#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
AADAT	51166	genome.wustl.edu	37	4	170990361	170990361	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:170990361A>C	ENST00000337664.4	-	7	1017	c.741T>G	c.(739-741)ctT>ctG	p.L247L	AADAT_ENST00000515480.1_Silent_p.L247L|AADAT_ENST00000353187.2_Silent_p.L247L|AADAT_ENST00000509167.1_Silent_p.L251L	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	247					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		CATCCATGGAAAGAAATGTTG	0.368																																																	0													68.0	66.0	66.0					4																	170990361		2203	4300	6503	SO:0001819	synonymous_variant	51166			AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.741T>G	4.37:g.170990361A>C			B3KP84|Q9UL02	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L251	ENST00000337664.4	37	c.753	CCDS3814.1	4																																																																																			AADAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.368	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	AADAT	HGNC	protein_coding	OTTHUMT00000362952.1	A	NM_016228		170990361	-1	no_errors	ENST00000509167	ensembl	human	known	70_37	silent	SNP	0.994	C
AARS	16	genome.wustl.edu	37	16	70302241	70302241	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:70302241G>A	ENST00000261772.8	-	8	1147	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V		NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CTTTTCATGGGCGTATCGGAC	0.507																																																	0													115.0	100.0	105.0					16																	70302241		2198	4300	6498	SO:0001583	missense	16			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1004C>T	16.37:g.70302241G>A	ENSP00000261772:p.Ala335Val			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc	p.A335V	ENST00000261772.8	37	c.1004	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917074	0.73098	.	.	ENSG00000090861	ENST00000261772	T	0.73047	-0.71	5.77	5.77	0.91146	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.203421	0.53938	D	0.000052	T	0.80253	0.4589	M	0.74467	2.265	0.47214	D	0.999352	B;B	0.27656	0.184;0.177	B;P	0.44518	0.239;0.452	T	0.77073	-0.2723	10	0.41790	T	0.15	-7.6595	17.5526	0.87880	0.0:0.0:1.0:0.0	.	343;335	E7ETK8;P49588	.;SYAC_HUMAN	V	335	ENSP00000261772:A335V	ENSP00000261772:A335V	A	-	2	0	AARS	68859742	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	9.827000	0.99397	2.732000	0.93576	0.650000	0.86243	GCC	AARS	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc		0.507	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	G	NM_001605		70302241	-1	no_errors	ENST00000261772	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCA10	10349	genome.wustl.edu	37	17	67187321	67187321	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:67187321A>T	ENST00000269081.4	-	18	2916	c.2007T>A	c.(2005-2007)ttT>ttA	p.F669L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	669					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGTTACCTGGAAATTTGTTCG	0.343																																																	0													104.0	92.0	96.0					17																	67187321		2201	4299	6500	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2007T>A	17.37:g.67187321A>T	ENSP00000269081:p.Phe669Leu		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F669L	ENST00000269081.4	37	c.2007	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926535	0.73327	.	.	ENSG00000154263	ENST00000269081	D	0.89939	-2.59	2.99	2.99	0.34606	.	0.000000	0.34906	U	0.003581	D	0.92325	0.7565	M	0.73598	2.24	0.80722	D	1	D;P	0.61080	0.989;0.73	D;P	0.74348	0.983;0.865	D	0.91620	0.5310	10	0.87932	D	0	.	7.1538	0.25626	0.8729:0.0:0.1271:0.0	.	669;669	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	L	669	ENSP00000269081:F669L	ENSP00000269081:F669L	F	-	3	2	ABCA10	64698916	0.939000	0.31865	0.864000	0.33941	0.113000	0.19764	2.015000	0.40961	1.361000	0.45981	0.460000	0.39030	TTT	ABCA10	-	NULL		0.343	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	A	NM_080282		67187321	-1	no_errors	ENST00000269081	ensembl	human	known	70_37	missense	SNP	1.000	T
AATK	9625	genome.wustl.edu	37	17	79102290	79102290	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:79102290C>T	ENST00000326724.4	-	4	418	c.394G>A	c.(394-396)Ggc>Agc	p.G132S	AATK_ENST00000572339.1_5'UTR|MIR338_ENST00000390137.2_RNA|AATK_ENST00000417379.1_Missense_Mutation_p.G29S	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAGCCACGGCCGATTTCCTTC	0.647																																																	0													32.0	40.0	37.0					17																	79102290		1756	3545	5301	SO:0001583	missense	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.394G>A	17.37:g.79102290C>T	ENSP00000324196:p.Gly132Ser		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G132S	ENST00000326724.4	37	c.394	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861758	0.71949	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	D;D	0.94862	-3.54;-3.54	4.07	4.07	0.47477	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97907	0.9312	H	0.94423	3.535	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.99271	1.0893	10	0.87932	D	0	.	15.045	0.71822	0.0:1.0:0.0:0.0	.	132	Q6ZMQ8	LMTK1_HUMAN	S	132	ENSP00000324196:G132S;ENSP00000363924:G132S	ENSP00000324196:G132S	G	-	1	0	AATK	76716885	1.000000	0.71417	0.919000	0.36401	0.098000	0.18820	5.581000	0.67471	1.820000	0.53075	0.453000	0.30009	GGC	AATK	-	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,pfscan_Prot_kinase_cat_dom		0.647	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	C	NM_004920		79102290	-1	no_errors	ENST00000326724	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF721	170960	genome.wustl.edu	37	4	419621	419621	+	IGR	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:419621C>T	ENST00000506646.1	-	0	935				ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721						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(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CATTTCCCAGCGCCTGCTCTT	0.413																																																	0																																										SO:0001628	intergenic_variant	79963			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20			4.37:g.419621C>T			Q69YG7	RNA	SNP	-	NULL	ENST00000506646.1	37	NULL		4																																																																																			ABCA11P	-	-		0.413	ZNF721-003	PUTATIVE	basic	protein_coding	ABCA11P	HGNC	protein_coding	OTTHUMT00000357869.2	C	NM_133474		419621	-1	no_errors	ENST00000451020	ensembl	human	known	70_37	rna	SNP	0.029	T
ABCA12	26154	genome.wustl.edu	37	2	215914364	215914364	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:215914364T>C	ENST00000272895.7	-	6	898	c.679A>G	c.(679-681)Aaa>Gaa	p.K227E		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	227					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGAACTGTTTGTTTAGTTCT	0.393																																					Ovarian(66;664 1488 5121 34295)												0													78.0	76.0	77.0					2																	215914364		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.679A>G	2.37:g.215914364T>C	ENSP00000272895:p.Lys227Glu		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K227E	ENST00000272895.7	37	c.679	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	T	8.440	0.850734	0.17034	.	.	ENSG00000144452	ENST00000272895	D	0.87887	-2.31	5.75	0.651	0.17817	.	0.477437	0.21153	N	0.079281	T	0.68622	0.3021	N	0.08118	0	0.21105	N	0.99978	B	0.02656	0.0	B	0.01281	0.0	T	0.55780	-0.8087	10	0.36615	T	0.2	.	4.3897	0.11334	0.1421:0.2146:0.0:0.6433	.	227	Q86UK0	ABCAC_HUMAN	E	227	ENSP00000272895:K227E	ENSP00000272895:K227E	K	-	1	0	ABCA12	215622609	1.000000	0.71417	0.006000	0.13384	0.804000	0.45430	1.268000	0.33062	-0.045000	0.13468	0.533000	0.62120	AAA	ABCA12	-	NULL		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	T	NM_173076		215914364	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	0.260	C
ABCA13	154664	genome.wustl.edu	37	7	48285128	48285128	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:48285128G>A	ENST00000435803.1	+	12	1434	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	470					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGCCTGGAGACATCAGCTA	0.343																																																	0													144.0	142.0	142.0					7																	48285128		1828	4084	5912	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1410G>A	7.37:g.48285128G>A			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E470	ENST00000435803.1	37	c.1410	CCDS47584.1	7																																																																																			ABCA13	-	NULL		0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	G	NM_152701		48285128	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	silent	SNP	0.677	A
ABCA13	154664	genome.wustl.edu	37	7	48312174	48312174	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:48312174T>C	ENST00000435803.1	+	17	2935	c.2911T>C	c.(2911-2913)Tat>Cat	p.Y971H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	971					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTTTACCGATATATTTATGA	0.289																																																	0													50.0	49.0	49.0					7																	48312174		1805	4069	5874	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2911T>C	7.37:g.48312174T>C	ENSP00000411096:p.Tyr971His		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y971H	ENST00000435803.1	37	c.2911	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	4.454	0.084149	0.08583	.	.	ENSG00000179869	ENST00000435803	D	0.86030	-2.06	5.67	-11.3	0.00108	.	0.898792	0.09293	N	0.822036	T	0.63426	0.2510	N	0.17474	0.49	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.48714	-0.9011	10	0.44086	T	0.13	.	3.8122	0.08801	0.3063:0.4698:0.0806:0.1432	.	971	Q86UQ4	ABCAD_HUMAN	H	971	ENSP00000411096:Y971H	ENSP00000411096:Y971H	Y	+	1	0	ABCA13	48282720	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.543000	0.06084	-1.930000	0.01056	0.533000	0.62120	TAT	ABCA13	-	NULL		0.289	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	T	NM_152701		48312174	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.000	C
ABCA13	154664	genome.wustl.edu	37	7	48315852	48315852	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:48315852A>C	ENST00000435803.1	+	17	6613	c.6589A>C	c.(6589-6591)Aat>Cat	p.N2197H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2197					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAGCTGACTAATTTCTCAGT	0.353																																																	0													29.0	26.0	27.0					7																	48315852		1797	4068	5865	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6589A>C	7.37:g.48315852A>C	ENSP00000411096:p.Asn2197His		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.N2197H	ENST00000435803.1	37	c.6589	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	A	11.08	1.532756	0.27387	.	.	ENSG00000179869	ENST00000435803	T	0.21031	2.03	5.17	-0.307	0.12777	.	0.404364	0.20983	N	0.082174	T	0.26666	0.0652	L	0.60455	1.87	0.09310	N	1	D	0.61697	0.99	P	0.54664	0.758	T	0.07986	-1.0744	9	.	.	.	.	5.496	0.16804	0.5137:0.1453:0.3411:0.0	.	2197	Q86UQ4	ABCAD_HUMAN	H	2197	ENSP00000411096:N2197H	.	N	+	1	0	ABCA13	48286398	0.001000	0.12720	0.002000	0.10522	0.182000	0.23217	0.210000	0.17455	0.006000	0.14734	0.397000	0.26171	AAT	ABCA13	-	NULL		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	A	NM_152701		48315852	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.000	C
ABCA13	154664	genome.wustl.edu	37	7	48318505	48318505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:48318505G>T	ENST00000435803.1	+	18	7738	c.7714G>T	c.(7714-7716)Gaa>Taa	p.E2572*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2572					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTGTGAAAGAAATAGCTAC	0.313																																																	0													64.0	68.0	67.0					7																	48318505		1809	4050	5859	SO:0001587	stop_gained	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7714G>T	7.37:g.48318505G>T	ENSP00000411096:p.Glu2572*		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E2572*	ENST00000435803.1	37	c.7714	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	47	13.177868	0.99725	.	.	ENSG00000179869	ENST00000435803	.	.	.	4.93	-0.304	0.12788	.	0.756267	0.11593	N	0.548509	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.0967	0.03669	0.1745:0.2905:0.3949:0.1401	.	.	.	.	X	2572	.	ENSP00000411096:E2572X	E	+	1	0	ABCA13	48289051	0.008000	0.16893	0.001000	0.08648	0.100000	0.18952	0.419000	0.21247	-0.096000	0.12329	-0.868000	0.02995	GAA	ABCA13	-	NULL		0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	G	NM_152701		48318505	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	nonsense	SNP	0.001	T
ABCA2	20	genome.wustl.edu	37	9	139915905	139915905	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:139915905C>T	ENST00000371605.3	-	7	980	c.833G>A	c.(832-834)cGc>cAc	p.R278H	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.R279H|ABCA2_ENST00000265662.5_Missense_Mutation_p.R279H			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	278					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCAGAGAAGCGCCTGGCACG	0.682																																																	0													23.0	31.0	28.0					9																	139915905		2188	4291	6479	SO:0001583	missense	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.833G>A	9.37:g.139915905C>T	ENSP00000360666:p.Arg278His		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R279H	ENST00000371605.3	37	c.836		9	.	.	.	.	.	.	.	.	.	.	c	9.022	0.985097	0.18889	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.88741	-2.42;-2.42;-2.42	3.94	3.01	0.34805	.	1931.850000	0.00166	U	0.000003	D	0.83778	0.5328	L	0.29908	0.895	0.37784	D	0.927102	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.66408	-0.5931	10	0.35671	T	0.21	.	6.7741	0.23611	0.0:0.6789:0.1462:0.175	.	278;308;309	Q9BZC7;E7EU84;E7ETC3	ABCA2_HUMAN;.;.	H	279;278;309;279	ENSP00000265662:R279H;ENSP00000360666:R278H;ENSP00000344155:R279H	ENSP00000265662:R279H	R	-	2	0	ABCA2	139035726	0.989000	0.36119	0.240000	0.24138	0.087000	0.18053	0.271000	0.18626	0.597000	0.29811	0.197000	0.17608	CGC	ABCA2	-	NULL		0.682	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		C	NM_001606		139915905	-1	no_errors	ENST00000265662	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCA6	23460	genome.wustl.edu	37	17	67101716	67101716	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:67101716T>G	ENST00000284425.2	-	20	2801	c.2627A>C	c.(2626-2628)tAt>tCt	p.Y876S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	876				MY -> IH (in Ref. 4; BAC04994). {ECO:0000305}.	transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAACATAGCATACATTATATT	0.323																																																	0													50.0	45.0	47.0					17																	67101716		2202	4300	6502	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2627A>C	17.37:g.67101716T>G	ENSP00000284425:p.Tyr876Ser		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y876S	ENST00000284425.2	37	c.2627	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	8.035	0.762558	0.15914	.	.	ENSG00000154262	ENST00000284425	D	0.85702	-2.02	4.97	-4.15	0.03881	.	2.838520	0.01097	N	0.005282	T	0.81118	0.4756	L	0.60455	1.87	0.09310	N	1	B	0.18741	0.03	B	0.19666	0.026	T	0.61327	-0.7085	10	0.20046	T	0.44	.	9.2055	0.37287	0.699:0.0:0.1109:0.1901	.	876	Q8N139	ABCA6_HUMAN	S	876	ENSP00000284425:Y876S	ENSP00000284425:Y876S	Y	-	2	0	ABCA6	64613311	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.645000	0.05409	-0.504000	0.06577	-0.468000	0.05107	TAT	ABCA6	-	NULL		0.323	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	T	NM_080284		67101716	-1	no_errors	ENST00000284425	ensembl	human	known	70_37	missense	SNP	0.000	G
ABCA5	23461	genome.wustl.edu	37	17	67310553	67310553	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:67310553A>G	ENST00000392676.3	-	2	68	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P	ABCA5_ENST00000589609.1_5'Flank|ABCA5_ENST00000588877.1_Missense_Mutation_p.S2P|ABCA5_ENST00000392677.2_Missense_Mutation_p.S2P			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	2					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATTGCAGTGGACATGTTTTCT	0.378																																																	0													102.0	104.0	103.0					17																	67310553		2203	4300	6503	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4T>C	17.37:g.67310553A>G	ENSP00000376443:p.Ser2Pro		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S2P	ENST00000392676.3	37	c.4	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	A	15.32	2.799944	0.50208	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.46451	0.87;0.87	5.76	4.79	0.61399	.	0.227351	0.30949	N	0.008545	T	0.22627	0.0546	N	0.04508	-0.205	0.22968	N	0.998499	B;B	0.21606	0.039;0.058	B;B	0.24974	0.046;0.057	T	0.14364	-1.0475	9	.	.	.	.	14.1108	0.65120	0.2837:0.7163:0.0:0.0	.	2;2	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	P	2	ENSP00000376444:S2P;ENSP00000376443:S2P	.	S	-	1	0	ABCA5	64822148	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.357000	0.34090	1.411000	0.46957	-0.452000	0.05504	TCC	ABCA5	-	NULL		0.378	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	A	NM_018672		67310553	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCB10	23456	genome.wustl.edu	37	1	229653815	229653815	+	3'UTR	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:229653815T>C	ENST00000344517.4	-	0	2370				ABCB10_ENST00000498158.1_5'UTR	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AAAAAATAGGTATTTTTCAAA	0.264																																																	0																																										SO:0001624	3_prime_UTR_variant	23456			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.*111A>G	1.37:g.229653815T>C			Q13040|Q6P1Q8|Q9H3V0	RNA	SNP	-	NULL	ENST00000344517.4	37	NULL	CCDS1580.1	1																																																																																			ABCB10	-	-		0.264	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1	T	NM_012089		229653815	-1	no_errors	ENST00000498158	ensembl	human	known	70_37	rna	SNP	0.133	C
ABCB5	340273	genome.wustl.edu	37	7	20738062	20738062	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:20738062T>G	ENST00000404938.2	+	17	2695	c.2043T>G	c.(2041-2043)atT>atG	p.I681M	ABCB5_ENST00000258738.6_Missense_Mutation_p.I236M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	681					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TATTAAAAATTTTAAAGTTAA	0.348																																																	0													55.0	57.0	57.0					7																	20738062		2202	4296	6498	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2043T>G	7.37:g.20738062T>G	ENSP00000384881:p.Ile681Met		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.I236M	ENST00000404938.2	37	c.708	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	T	14.37	2.516532	0.44763	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.81415	-1.49;-1.49	5.55	-0.0831	0.13695	ABC transporter, transmembrane domain, type 1 (1);	0.088468	0.44902	D	0.000409	T	0.82144	0.4973	L	0.58354	1.805	0.34381	D	0.693069	P;D	0.58268	0.941;0.982	P;D	0.66196	0.715;0.942	T	0.81099	-0.1086	10	0.66056	D	0.02	.	3.6988	0.08375	0.2778:0.1824:0.0:0.5398	.	681;236	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	M	681;236	ENSP00000384881:I681M;ENSP00000258738:I236M	ENSP00000258738:I236M	I	+	3	3	ABCB5	20704587	0.997000	0.39634	0.997000	0.53966	0.463000	0.32649	0.643000	0.24750	0.108000	0.17862	0.482000	0.46254	ATT	ABCB5	-	superfamily_ABC_transptrTM_dom_typ1		0.348	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	T	NM_178559		20738062	+1	no_errors	ENST00000258738	ensembl	human	known	70_37	missense	SNP	0.998	G
ABCC2	1244	genome.wustl.edu	37	10	101611285	101611285	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:101611285T>G	ENST00000370449.4	+	32	4648	c.4535T>G	c.(4534-4536)aTt>aGt	p.I1512S		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1512	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AACGGGAAGATTATAGAGTGC	0.413																																																	0													112.0	113.0	113.0					10																	101611285		2203	4300	6503	SO:0001583	missense	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4535T>G	10.37:g.101611285T>G	ENSP00000359478:p.Ile1512Ser		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.I1512S	ENST00000370449.4	37	c.4535	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336334	0.60963	.	.	ENSG00000023839	ENST00000370449	T	0.81247	-1.47	4.58	3.45	0.39498	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.90551	0.4509	10	0.87932	D	0	-15.4826	9.7236	0.40317	0.0:0.083:0.0:0.917	.	1512	Q92887	MRP2_HUMAN	S	1512	ENSP00000359478:I1512S	ENSP00000359478:I1512S	I	+	2	0	ABCC2	101601275	1.000000	0.71417	0.925000	0.36789	0.572000	0.35998	7.464000	0.80887	0.784000	0.33661	0.459000	0.35465	ATT	ABCC2	-	pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.413	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	T	NM_000392		101611285	+1	no_errors	ENST00000370449	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCC4	10257	genome.wustl.edu	37	13	95899248	95899248	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:95899248C>T	ENST00000376887.4	-	3	401	c.287G>A	c.(286-288)gGa>gAa	p.G96E	ABCC4_ENST00000412704.1_Missense_Mutation_p.G96E|ABCC4_ENST00000536256.1_Missense_Mutation_p.G96E|ABCC4_ENST00000431522.1_Missense_Mutation_p.G96E|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	96	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CGTAAAAATTCCCAAAACTAA	0.353																																																	0													124.0	135.0	131.0					13																	95899248		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.287G>A	13.37:g.95899248C>T	ENSP00000366084:p.Gly96Glu		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.G96E	ENST00000376887.4	37	c.287	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945379	0.73672	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.68	5.68	0.88126	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.099352	0.64402	D	0.000002	T	0.76997	0.4066	H	0.96333	3.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.992;0.986;0.998;0.988	D;D;P;D;D	0.91635	0.999;0.977;0.891;0.986;0.934	D	0.84359	0.0537	10	0.87932	D	0	.	18.5638	0.91110	0.0:1.0:0.0:0.0	.	96;96;96;96;96	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	E	96	ENSP00000388657:G96E;ENSP00000366084:G96E;ENSP00000442024:G96E;ENSP00000398562:G96E	ENSP00000366084:G96E	G	-	2	0	ABCC4	94697249	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	7.026000	0.76455	2.660000	0.90430	0.650000	0.86243	GGA	ABCC4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM		0.353	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	C	NM_005845		95899248	-1	no_errors	ENST00000376887	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCD4	5826	genome.wustl.edu	37	14	74764640	74764640	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:74764640C>T	ENST00000356924.4	-	4	561	c.418G>A	c.(418-420)Gat>Aat	p.D140N	ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Missense_Mutation_p.D53N|ABCD4_ENST00000557588.1_Missense_Mutation_p.D140N	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	140	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TACGGGTTATCGATGTCATCC	0.582																																																	0													104.0	88.0	93.0					14																	74764640		2203	4300	6503	SO:0001583	missense	5826			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.418G>A	14.37:g.74764640C>T	ENSP00000349396:p.Asp140Asn		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.D140N	ENST00000356924.4	37	c.418	CCDS9828.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.776022	0.96922	.	.	ENSG00000119688	ENST00000356924;ENST00000298816;ENST00000557588	D;D;D	0.94457	-3.43;-3.43;-3.43	5.5	5.5	0.81552	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97887	1.0295	10	0.51188	T	0.08	.	19.3878	0.94565	0.0:1.0:0.0:0.0	.	53;140	F8W7M4;O14678	.;ABCD4_HUMAN	N	140;53;140	ENSP00000349396:D140N;ENSP00000298816:D53N;ENSP00000451993:D140N	ENSP00000298816:D53N	D	-	1	0	ABCD4	73834393	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.723000	0.84788	2.573000	0.86826	0.561000	0.74099	GAT	ABCD4	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.582	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	HGNC	protein_coding	OTTHUMT00000314382.1	C	NM_005050		74764640	-1	no_errors	ENST00000356924	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCE1	6059	genome.wustl.edu	37	4	146044714	146044714	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:146044714T>G	ENST00000296577.4	+	16	2117	c.1602T>G	c.(1600-1602)gtT>gtG	p.V534V	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	534	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GCGTCATCGTTTTTGATGGTG	0.338																																																	0													65.0	59.0	61.0					4																	146044714		2203	4300	6503	SO:0001819	synonymous_variant	6059			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1602T>G	4.37:g.146044714T>G			O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Silent	SNP	pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.V534	ENST00000296577.4	37	c.1602	CCDS34071.1	4																																																																																			ABCE1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.338	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	HGNC	protein_coding	OTTHUMT00000365104.1	T	NM_002940		146044714	+1	no_errors	ENST00000296577	ensembl	human	known	70_37	silent	SNP	0.998	G
ABCG4	64137	genome.wustl.edu	37	11	119020789	119020789	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:119020789G>T	ENST00000449422.2	+	2	302	c.114G>T	c.(112-114)aaG>aaT	p.K38N	ABCG4_ENST00000531739.1_Missense_Mutation_p.K38N|ABCG4_ENST00000307417.3_Missense_Mutation_p.K38N	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	38					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CGCACCTGAAGAAGGTGGAGA	0.662																																																	0													66.0	70.0	69.0					11																	119020789		2200	4295	6495	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.114G>T	11.37:g.119020789G>T	ENSP00000406874:p.Lys38Asn		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K38N	ENST00000449422.2	37	c.114	CCDS8415.1	11	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366680	0.61513	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	4.62	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	L	0.51422	1.61	0.52501	D	0.999958	D	0.89917	1.0	D	0.83275	0.996	T	0.00512	-1.1696	10	0.44086	T	0.13	-25.1223	12.6344	0.56675	0.0804:0.0:0.9196:0.0	.	38	Q9H172	ABCG4_HUMAN	N	38	ENSP00000304111:K38N;ENSP00000431915:K38N;ENSP00000406874:K38N;ENSP00000434318:K38N	ENSP00000304111:K38N	K	+	3	2	ABCG4	118525999	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.413000	0.73308	1.161000	0.42604	0.650000	0.86243	AAG	ABCG4	-	NULL		0.662	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	G	NM_022169		119020789	+1	no_errors	ENST00000307417	ensembl	human	known	70_37	missense	SNP	1.000	T
ABI3BP	25890	genome.wustl.edu	37	3	100511564	100511564	+	Missense_Mutation	SNP	C	C	T	rs373865185		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:100511564C>T	ENST00000284322.5	-	23	2046	c.1937G>A	c.(1936-1938)cGa>cAa	p.R646Q	ABI3BP_ENST00000383691.4_Missense_Mutation_p.R600Q|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1323Q	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	646	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTCAGTTGTTCGTGGAATCTT	0.343																																																	0								C	GLN/ARG	0,3680		0,0,1840	253.0	239.0	243.0		1937	0.1	1.0	3		243	1,8167		0,1,4083	no	missense	ABI3BP	NM_015429.3	43	0,1,5923	TT,TC,CC		0.0122,0.0,0.0084	benign	646/1076	100511564	1,11847	1840	4084	5924	SO:0001583	missense	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1937G>A	3.37:g.100511564C>T	ENSP00000284322:p.Arg646Gln		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R646Q	ENST00000284322.5	37	c.1937	CCDS46880.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.61|10.61	1.397748|1.397748	0.25205|0.25205	0.0|0.0	1.22E-4|1.22E-4	ENSG00000154175|ENSG00000154175	ENST00000495591;ENST00000471901|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	.|T;T;T	.|0.55234	.|2.18;0.53;1.73	5.94|5.94	0.062|0.062	0.14343|0.14343	.|.	.|1.772070	.|0.02614	.|N	.|0.102506	T|T	0.34803|0.34803	0.0910|0.0910	L|L	0.50333|0.50333	1.59|1.59	0.25032|0.25032	N|N	0.991263|0.991263	.|B;B;P;B	.|0.41313	.|0.174;0.057;0.745;0.209	.|B;B;B;B	.|0.22753	.|0.007;0.007;0.041;0.019	T|T	0.18178|0.18178	-1.0345|-1.0345	5|10	.|0.18276	.|T	.|0.48	0.3421|0.3421	1.5577|1.5577	0.02588|0.02588	0.1353:0.433:0.1312:0.3005|0.1353:0.433:0.1312:0.3005	.|.	.|600;646;1323;330	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	K|Q	702;226|1323;646;330;32;600	.|ENSP00000420524:R1323Q;ENSP00000284322:R646Q;ENSP00000373189:R600Q	.|ENSP00000284322:R646Q	E|R	-|-	1|2	0|0	ABI3BP|ABI3BP	101994254|101994254	0.660000|0.660000	0.27420|0.27420	0.951000|0.951000	0.38953|0.38953	0.073000|0.073000	0.16967|0.16967	-0.336000|-0.336000	0.07863|0.07863	-0.281000|-0.281000	0.09141|0.09141	-0.350000|-0.350000	0.07774|0.07774	GAA|CGA	ABI3BP	-	NULL		0.343	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	C			100511564	-1	no_errors	ENST00000284322	ensembl	human	known	70_37	missense	SNP	0.973	T
ABI3BP	25890	genome.wustl.edu	37	3	100605128	100605128	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:100605128C>A	ENST00000284322.5	-	5	631	c.522G>T	c.(520-522)aaG>aaT	p.K174N	ABI3BP_ENST00000471714.1_Missense_Mutation_p.K174N|ABI3BP_ENST00000495063.1_Missense_Mutation_p.K174N	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	174	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AAATCCACTTCTTTTCTTTAT	0.338																																																	0													84.0	71.0	75.0					3																	100605128		1801	4068	5869	SO:0001583	missense	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.522G>T	3.37:g.100605128C>A	ENSP00000284322:p.Lys174Asn		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.K174N	ENST00000284322.5	37	c.522	CCDS46880.1	3	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422644	0.62733	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063;ENST00000527258;ENST00000530539	T;T;T;T;T	0.57273	1.1;1.1;1.1;0.41;2.5	5.71	2.95	0.34219	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.131205	0.64402	D	0.000001	T	0.61476	0.2350	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.995	T	0.61182	-0.7114	10	0.62326	D	0.03	-11.3437	9.8984	0.41334	0.0:0.7856:0.0:0.2144	.	167;174;174	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	N	174;174;174;93;114	ENSP00000420524:K174N;ENSP00000284322:K174N;ENSP00000433993:K174N;ENSP00000435319:K93N;ENSP00000436918:K114N	ENSP00000284322:K174N	K	-	3	2	ABI3BP	102087818	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.938000	0.28965	0.777000	0.33496	0.555000	0.69702	AAG	ABI3BP	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.338	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	C			100605128	-1	no_errors	ENST00000284322	ensembl	human	known	70_37	missense	SNP	1.000	A
ABL1	25	genome.wustl.edu	37	9	133729510	133729510	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:133729510C>T	ENST00000318560.5	+	2	520	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	47	CAP.		R -> G (in a lung large cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.R47G(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGAAGCCGCTCGTTGGAACTC	0.493			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Substitution - Missense(1)	lung(1)											120.0	122.0	121.0					9																	133729510		2203	4300	6503	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.139C>T	9.37:g.133729510C>T	ENSP00000323315:p.Arg47Cys		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R66C	ENST00000318560.5	37	c.196	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.685126	0.96784	.	.	ENSG00000097007	ENST00000372348;ENST00000438426;ENST00000318560	T;T	0.54479	0.57;0.57	5.73	5.73	0.89815	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.969	T	0.67011	-0.5778	10	0.87932	D	0	.	18.9599	0.92674	0.0:1.0:0.0:0.0	.	47;84	P00519;Q59FK4	ABL1_HUMAN;.	C	66;93;47	ENSP00000361423:R66C;ENSP00000323315:R47C	ENSP00000323315:R47C	R	+	1	0	ABL1	132719331	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.874000	0.63064	2.714000	0.92807	0.638000	0.83543	CGT	ABL1	-	superfamily_SH3_domain		0.493	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	C	NM_007313		133729510	+1	no_errors	ENST00000372348	ensembl	human	known	70_37	missense	SNP	1.000	T
ABR	29	genome.wustl.edu	37	17	915136	915136	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:915136A>C	ENST00000302538.5	-	19	2197	c.2051T>G	c.(2050-2052)aTa>aGa	p.I684R	ABR_ENST00000543210.2_Missense_Mutation_p.I135R|ABR_ENST00000544583.2_Missense_Mutation_p.I638R|ABR_ENST00000291107.2_Missense_Mutation_p.I647R|ABR_ENST00000572441.1_Intron|ABR_ENST00000536794.2_Missense_Mutation_p.I466R|ABR_ENST00000574437.1_Missense_Mutation_p.I638R	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	684	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CACGCCCGATATCCTGTAGAT	0.652																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)												0													215.0	158.0	177.0					17																	915136		2203	4300	6503	SO:0001583	missense	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2051T>G	17.37:g.915136A>C	ENSP00000303909:p.Ile684Arg		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.I684R	ENST00000302538.5	37	c.2051	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537474	0.65085	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210;ENST00000382259	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	6.07	6.07	0.98685	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.105667	0.64402	D	0.000007	T	0.37625	0.1010	L	0.58354	1.805	0.58432	D	0.999998	P;D;B;P;P;P	0.60160	0.834;0.987;0.002;0.899;0.73;0.73	P;P;B;P;P;P	0.55391	0.703;0.775;0.003;0.667;0.707;0.616	T	0.10428	-1.0630	10	0.87932	D	0	.	15.5208	0.75866	1.0:0.0:0.0:0.0	.	466;135;292;647;594;684	B7Z683;F5H3S2;Q6ZT60;Q12979-2;B7Z2X0;Q12979	.;.;.;.;.;ABR_HUMAN	R	684;638;647;466;135;293	ENSP00000303909:I684R;ENSP00000442048:I638R;ENSP00000291107:I647R;ENSP00000437429:I466R;ENSP00000445198:I135R	ENSP00000291107:I647R	I	-	2	0	ABR	861886	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.339000	0.96797	2.340000	0.79590	0.529000	0.55759	ATA	ABR	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.652	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	A			915136	-1	no_errors	ENST00000302538	ensembl	human	known	70_37	missense	SNP	1.000	C
ABR	29	genome.wustl.edu	37	17	1012271	1012271	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:1012271T>G	ENST00000302538.5	-	3	393				ABR_ENST00000544583.2_Intron|ABR_ENST00000291107.2_Missense_Mutation_p.K13T|ABR_ENST00000574437.1_Intron	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTCCAGAACCTTGTCCAGCAA	0.672																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)												0													47.0	36.0	39.0					17																	1012271		2202	4300	6502	SO:0001627	intron_variant	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.247-8296A>C	17.37:g.1012271T>G			B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.K13T	ENST00000302538.5	37	c.38	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	t	20.7	4.028976	0.75504	.	.	ENSG00000159842	ENST00000291107	T	0.21361	2.01	5.16	4.09	0.47781	.	.	.	.	.	T	0.17831	0.0428	.	.	.	0.80722	D	1	B	0.29301	0.241	B	0.31812	0.136	T	0.05225	-1.0898	8	0.51188	T	0.08	.	7.9676	0.30109	0.0:0.0942:0.0:0.9058	.	13	Q12979-2	.	T	13	ENSP00000291107:K13T	ENSP00000291107:K13T	K	-	2	0	ABR	959021	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.671000	0.37513	1.956000	0.56807	0.398000	0.26397	AAG	ABR	-	NULL		0.672	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	T			1012271	-1	no_errors	ENST00000291107	ensembl	human	known	70_37	missense	SNP	1.000	G
ACADL	33	genome.wustl.edu	37	2	211053739	211053739	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:211053739A>G	ENST00000233710.3	-	11	1466	c.1239T>C	c.(1237-1239)ggT>ggC	p.G413G	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	413					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TTTCATTTGTACCACCATAGA	0.353																																																	0													143.0	143.0	143.0					2																	211053739		2203	4300	6503	SO:0001819	synonymous_variant	33			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.1239T>C	2.37:g.211053739A>G			B2R8T3|Q8IUN8	Silent	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.G413	ENST00000233710.3	37	c.1239	CCDS2389.1	2																																																																																			ACADL	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.353	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADL	HGNC	protein_coding	OTTHUMT00000256561.2	A	NM_001608		211053739	-1	no_errors	ENST00000233710	ensembl	human	known	70_37	silent	SNP	0.875	G
ACCSL	390110	genome.wustl.edu	37	11	44074225	44074225	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:44074225C>T	ENST00000378832.1	+	6	842	c.786C>T	c.(784-786)gtC>gtT	p.V262V		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	262					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CCTTCCTGGTCCCTGCTCCCT	0.542																																																	0													300.0	292.0	295.0					11																	44074225		1934	4133	6067	SO:0001819	synonymous_variant	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.786C>T	11.37:g.44074225C>T				Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.V262	ENST00000378832.1	37	c.786	CCDS41636.1	11																																																																																			ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.542	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	C	NM_001031854		44074225	+1	no_errors	ENST00000378832	ensembl	human	known	70_37	silent	SNP	0.995	T
ACAT1	38	genome.wustl.edu	37	11	108016992	108016992	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:108016992A>T	ENST00000265838.4	+	11	1160	c.1069A>T	c.(1069-1071)Agt>Tgt	p.S357C		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	357					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TGAAGCCTTTAGTCTGGTTGT	0.343																																																	0													143.0	165.0	157.0					11																	108016992		2201	4298	6499	SO:0001583	missense	38			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1069A>T	11.37:g.108016992A>T	ENSP00000265838:p.Ser357Cys		B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.S357C	ENST00000265838.4	37	c.1069	CCDS8339.1	11	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796766	0.90453	.	.	ENSG00000075239	ENST00000265838	D	0.93659	-3.26	5.86	5.86	0.93980	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96846	0.8970	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97417	1.0006	10	0.87932	D	0	-4.1885	16.2644	0.82568	1.0:0.0:0.0:0.0	.	357	P24752	THIL_HUMAN	C	357	ENSP00000265838:S357C	ENSP00000265838:S357C	S	+	1	0	ACAT1	107522202	1.000000	0.71417	0.987000	0.45799	0.950000	0.60333	9.056000	0.93881	2.244000	0.73946	0.528000	0.53228	AGT	ACAT1	-	pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase		0.343	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	HGNC	protein_coding	OTTHUMT00000389474.1	A	NM_000019		108016992	+1	no_errors	ENST00000265838	ensembl	human	known	70_37	missense	SNP	1.000	T
ACRC	93953	genome.wustl.edu	37	X	70824092	70824092	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:70824092C>T	ENST00000373695.1	+	7	1502	c.965C>T	c.(964-966)tCg>tTg	p.S322L	ACRC_ENST00000373696.3_Missense_Mutation_p.S322L			Q96QF7	ACRC_HUMAN	acidic repeat containing	322	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGTGATGATTCGGATGTTCCC	0.463																																																	0													202.0	167.0	179.0					X																	70824092		2203	4300	6503	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.965C>T	X.37:g.70824092C>T	ENSP00000362799:p.Ser322Leu		B9EG62	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.S322L	ENST00000373695.1	37	c.965	CCDS35326.1	X	.	.	.	.	.	.	.	.	.	.	C	0.524	-0.860893	0.02610	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.34072	1.38;1.38	0.597	-1.19	0.09585	.	.	.	.	.	T	0.12178	0.0296	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13072	-1.0523	9	0.21540	T	0.41	.	1.0859	0.01652	0.2001:0.4016:0.2003:0.198	.	322	Q96QF7	ACRC_HUMAN	L	322	ENSP00000362800:S322L;ENSP00000362799:S322L	ENSP00000362799:S322L	S	+	2	0	ACRC	70740817	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.562000	0.00430	-2.687000	0.00405	-2.231000	0.00291	TCG	ACRC	-	NULL		0.463	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	C			70824092	+1	no_errors	ENST00000373695	ensembl	human	known	70_37	missense	SNP	0.002	T
ACSBG2	81616	genome.wustl.edu	37	19	6156561	6156561	+	Splice_Site	SNP	C	C	T	rs375355306		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:6156561C>T	ENST00000586696.1	+	5	782	c.506C>T	c.(505-507)tCg>tTg	p.S169L	ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000252669.5_Splice_Site_p.S169L|ACSBG2_ENST00000588304.1_Splice_Site_p.S119L|ACSBG2_ENST00000591403.1_Splice_Site_p.S169L			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	169					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.S169L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAATCCTTTCGGTAAACCCC	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		18017	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	central_nervous_system(1)						C	LEU/SER	0,4406		0,0,2203	124.0	116.0	119.0		506	0.9	1.0	19		119	2,8598	2.2+/-6.3	0,2,4298	no	missense-near-splice	ACSBG2	NM_030924.3	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	169/667	6156561	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	81616				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.507+1C>T	19.37:g.6156561C>T			B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S169L	ENST00000586696.1	37	c.506	CCDS12159.1	19	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676284	0.47886	0.0	2.33E-4	ENSG00000130377	ENST00000252669	T	0.42900	0.96	5.76	0.898	0.19264	AMP-dependent synthetase/ligase (1);	0.494033	0.15292	N	0.270093	T	0.41604	0.1166	M	0.77103	2.36	0.46654	D	0.999146	B;B	0.24920	0.114;0.105	B;B	0.30572	0.117;0.035	T	0.34104	-0.9842	10	0.51188	T	0.08	-8.0429	5.0179	0.14347	0.4221:0.4084:0.0:0.1695	.	169;169	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	L	169	ENSP00000252669:S169L	ENSP00000252669:S169L	S	+	2	0	ACSBG2	6107561	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	3.171000	0.50824	0.340000	0.23745	-0.266000	0.10368	TCG	ACSBG2	-	pfam_AMP-dep_Synth/Lig		0.463	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1	C	NM_030924	Missense_Mutation	6156561	+1	no_errors	ENST00000252669	ensembl	human	known	70_37	missense	SNP	0.990	T
ACSL4	2182	genome.wustl.edu	37	X	108904801	108904801	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:108904801C>A	ENST00000469796.2	-	14	2175	c.1779G>T	c.(1777-1779)aaG>aaT	p.K593N	ACSL4_ENST00000348502.6_Missense_Mutation_p.K552N|ACSL4_ENST00000340800.2_Missense_Mutation_p.K593N			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	593					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	GTGGACAATTCTTCAGTGCAG	0.333																																					Pancreas(188;358 2127 38547 41466 45492)												0													184.0	157.0	166.0					X																	108904801		2203	4299	6502	SO:0001583	missense	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1779G>T	X.37:g.108904801C>A	ENSP00000419171:p.Lys593Asn		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K593N	ENST00000469796.2	37	c.1779	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009598	0.75046	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.10477	2.87;2.87;2.87	5.12	4.26	0.50523	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02075	-1.1218	10	0.22109	T	0.4	-13.8778	13.1633	0.59557	0.0:0.92:0.0:0.08	.	593	O60488	ACSL4_HUMAN	N	552;593;593	ENSP00000262835:K552N;ENSP00000419171:K593N;ENSP00000339787:K593N	ENSP00000339787:K593N	K	-	3	2	ACSL4	108791457	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.631000	0.46502	1.062000	0.40625	0.506000	0.49869	AAG	ACSL4	-	pfam_AMP-dep_Synth/Lig		0.333	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	C	NM_004458		108904801	-1	no_errors	ENST00000340800	ensembl	human	known	70_37	missense	SNP	1.000	A
ACSL4	2182	genome.wustl.edu	37	X	108906587	108906587	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:108906587C>T	ENST00000469796.2	-	13	1954	c.1558G>A	c.(1558-1560)Gta>Ata	p.V520I	ACSL4_ENST00000348502.6_Missense_Mutation_p.V479I|ACSL4_ENST00000340800.2_Missense_Mutation_p.V520I			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	520					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.V520I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CCACCAATTACGATTTCACCT	0.338																																					Pancreas(188;358 2127 38547 41466 45492)												1	Substitution - Missense(1)	ovary(1)											219.0	227.0	225.0					X																	108906587		2203	4300	6503	SO:0001583	missense	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1558G>A	X.37:g.108906587C>T	ENSP00000419171:p.Val520Ile		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V520I	ENST00000469796.2	37	c.1558	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204131	0.38905	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.44881	0.91;0.91;0.91	5.52	4.6	0.57074	AMP-dependent synthetase/ligase (1);	0.194977	0.40818	N	0.001018	T	0.37517	0.1006	M	0.74546	2.27	0.32172	N	0.581489	B	0.13145	0.007	B	0.12837	0.008	T	0.48502	-0.9030	10	0.42905	T	0.14	-16.4217	2.8619	0.05590	0.239:0.5335:0.0:0.2276	.	520	O60488	ACSL4_HUMAN	I	479;520;520	ENSP00000262835:V479I;ENSP00000419171:V520I;ENSP00000339787:V520I	ENSP00000339787:V520I	V	-	1	0	ACSL4	108793243	0.620000	0.27068	0.960000	0.40013	0.841000	0.47740	0.969000	0.29370	2.307000	0.77673	0.600000	0.82982	GTA	ACSL4	-	pfam_AMP-dep_Synth/Lig		0.338	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	C	NM_004458		108906587	-1	no_errors	ENST00000340800	ensembl	human	known	70_37	missense	SNP	0.760	T
ACSL5	51703	genome.wustl.edu	37	10	114169418	114169418	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:114169418A>C	ENST00000393081.1	+	7	993	c.686A>C	c.(685-687)gAg>gCg	p.E229A	ACSL5_ENST00000433418.1_Missense_Mutation_p.E229A|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000354273.4_Missense_Mutation_p.E229A|ACSL5_ENST00000356116.1_Missense_Mutation_p.E285A|RP11-324O2.3_ENST00000449782.2_RNA|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000369410.3_5'UTR|RP11-324O2.3_ENST00000598447.1_RNA|ACSL5_ENST00000354655.4_Missense_Mutation_p.E229A	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	229					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGTGGAATTGAGATCTTATCC	0.468																																																	0													177.0	157.0	163.0					10																	114169418		2203	4300	6503	SO:0001583	missense	51703			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.686A>C	10.37:g.114169418A>C	ENSP00000376796:p.Glu229Ala		A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E285A	ENST00000393081.1	37	c.854	CCDS7573.1	10	.	.	.	.	.	.	.	.	.	.	A	19.65	3.866920	0.72065	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273	T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86	5.8	5.8	0.92144	AMP-dependent synthetase/ligase (1);	0.149573	0.64402	D	0.000015	T	0.25158	0.0611	L	0.58669	1.825	0.80722	D	1	P;P;P	0.52170	0.951;0.57;0.585	P;B;P	0.58660	0.843;0.211;0.507	T	0.00500	-1.1703	10	0.33141	T	0.24	-17.4514	15.1191	0.72429	1.0:0.0:0.0:0.0	.	229;285;229	A6GV77;Q9ULC5-3;Q9ULC5	.;.;ACSL5_HUMAN	A	229;229;285;229;229	ENSP00000346680:E229A;ENSP00000376796:E229A;ENSP00000348429:E285A;ENSP00000403647:E229A;ENSP00000346223:E229A	ENSP00000346223:E229A	E	+	2	0	ACSL5	114159408	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	8.927000	0.92846	2.214000	0.71695	0.482000	0.46254	GAG	ACSL5	-	pfam_AMP-dep_Synth/Lig		0.468	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	A	NM_016234		114169418	+1	no_errors	ENST00000356116	ensembl	human	known	70_37	missense	SNP	1.000	C
C1orf146	388649	genome.wustl.edu	37	1	92694442	92694442	+	Intron	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:92694442A>G	ENST00000370375.3	+	2	109				AL451010.1_ENST00000581900.1_RNA|ACTBP12_ENST00000594933.1_RNA|C1orf146_ENST00000370373.2_Intron	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		AGCTTCAAGGACAATTTCTTT	0.378																																																	0																																										SO:0001627	intron_variant	100462767				CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.-39-2497A>G	1.37:g.92694442A>G			Q5VVC4	RNA	SNP	-	NULL	ENST00000370375.3	37	NULL	CCDS30772.1	1																																																																																			ACTBP12	-	-		0.378	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBP12	HGNC	protein_coding	OTTHUMT00000028364.1	A	NM_001012425		92694442	-1	no_errors	ENST00000594933	ensembl	human	known	70_37	rna	SNP	0.113	G
ACTC1	70	genome.wustl.edu	37	15	35086895	35086895	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:35086895G>A	ENST00000290378.4	-	2	770	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	39					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGCCGCGGGCGGCCCACGATG	0.677																																																	0													20.0	24.0	23.0					15																	35086895		2190	4286	6476	SO:0001583	missense	70			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.115C>T	15.37:g.35086895G>A	ENSP00000290378:p.Arg39Cys		P04270	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R39C	ENST00000290378.4	37	c.115	CCDS10041.1	15	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378011	0.61735	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.92149	-2.98	4.21	4.21	0.49690	.	0.000000	0.53938	U	0.000043	D	0.96420	0.8832	M	0.88640	2.97	0.80722	D	1	D	0.62365	0.991	D	0.68483	0.958	D	0.97496	1.0057	10	0.87932	D	0	.	16.9537	0.86252	0.0:0.0:1.0:0.0	.	39	P68032	ACTC_HUMAN	C	39	ENSP00000290378:R39C	ENSP00000290378:R39C	R	-	1	0	ACTC1	32874187	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.855000	0.99526	2.064000	0.61679	0.561000	0.74099	CGC	ACTC1	-	pfam_Actin-like,smart_Actin-like		0.677	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTC1	HGNC	protein_coding	OTTHUMT00000251876.3	G	NM_005159		35086895	-1	no_errors	ENST00000290378	ensembl	human	known	70_37	missense	SNP	1.000	A
ACTL7B	10880	genome.wustl.edu	37	9	111617835	111617835	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:111617835C>T	ENST00000374667.3	-	1	1404	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	126						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATGTCCTGCACGCAGTCCCAG	0.627																																																	0													70.0	54.0	59.0					9																	111617835		2203	4300	6503	SO:0001583	missense	10880			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.376G>A	9.37:g.111617835C>T	ENSP00000363799:p.Val126Met		B2R9Q2|Q5JSV1	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.V126M	ENST00000374667.3	37	c.376	CCDS6771.1	9	.	.	.	.	.	.	.	.	.	.	C	5.822	0.335922	0.11013	.	.	ENSG00000148156	ENST00000374667	D	0.96774	-4.12	4.17	2.28	0.28536	.	0.243552	0.21019	N	0.081549	D	0.87067	0.6085	N	0.02403	-0.565	0.28010	N	0.934943	B	0.23128	0.08	B	0.24974	0.057	T	0.81366	-0.0965	10	0.87932	D	0	.	5.8483	0.18679	0.0:0.6569:0.0:0.3431	.	126	Q9Y614	ACL7B_HUMAN	M	126	ENSP00000363799:V126M	ENSP00000363799:V126M	V	-	1	0	ACTL7B	110657656	0.617000	0.27043	0.994000	0.49952	0.992000	0.81027	0.917000	0.28665	0.493000	0.27837	0.655000	0.94253	GTG	ACTL7B	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like		0.627	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7B	HGNC	protein_coding	OTTHUMT00000053571.1	C	NM_006686		111617835	-1	no_errors	ENST00000374667	ensembl	human	known	70_37	missense	SNP	1.000	T
ACTL8	81569	genome.wustl.edu	37	1	18153014	18153014	+	Nonstop_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:18153014A>G	ENST00000375406.1	+	3	1317	c.1101A>G	c.(1099-1101)tgA>tgG	p.*367W		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	0					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		TGAGGATGTGACCCTACTGGC	0.532											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													45.0	47.0	46.0					1																	18153014		2155	4254	6409	SO:0001578	stop_lost	81569			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.1101A>G	1.37:g.18153014A>G	ENSP00000364555:p.*367Trpext*30	723	Q13104|Q96M75	Nonstop_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.*367W	ENST00000375406.1	37	c.1101	CCDS183.1	1	.	.	.	.	.	.	.	.	.	.	A	8.023	0.759990	0.15846	.	.	ENSG00000117148	ENST00000375406	.	.	.	4.74	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2391	0.10640	0.7234:0.0:0.0994:0.1771	.	.	.	.	W	367	.	.	X	+	3	0	ACTL8	18025601	0.111000	0.22076	0.012000	0.15200	0.078000	0.17371	1.094000	0.30951	0.326000	0.23384	0.533000	0.62120	TGA	ACTL8	-	NULL		0.532	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL8	HGNC	protein_coding	OTTHUMT00000007143.1	A	NM_030812		18153014	+1	no_errors	ENST00000375406	ensembl	human	known	70_37	nonstop	SNP	0.022	G
ACVR2A	92	genome.wustl.edu	37	2	148654009	148654009	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:148654009G>T	ENST00000241416.7	+	2	831	c.195G>T	c.(193-195)aaG>aaT	p.K65N	ACVR2A_ENST00000404590.1_Missense_Mutation_p.K65N|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_5'UTR	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	65					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CTACCTGGAAGAATATTTCTG	0.368																																																	0													165.0	162.0	163.0					2																	148654009		2203	4300	6503	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.195G>T	2.37:g.148654009G>T	ENSP00000241416:p.Lys65Asn		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.K65N	ENST00000241416.7	37	c.195	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816974	0.50633	.	.	ENSG00000121989	ENST00000241416;ENST00000404590	D;D	0.97710	-4.5;-4.5	5.58	3.37	0.38596	TGF-beta receptor/activin receptor, type I/II (1);	0.049541	0.85682	D	0.000000	D	0.93644	0.7970	L	0.28608	0.87	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	D	0.89757	0.3944	10	0.12430	T	0.62	.	12.3789	0.55295	0.2156:0.0:0.7844:0.0	.	65	P27037	AVR2A_HUMAN	N	65	ENSP00000241416:K65N;ENSP00000384338:K65N	ENSP00000241416:K65N	K	+	3	2	ACVR2A	148370479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.859000	0.39418	1.296000	0.44742	0.655000	0.94253	AAG	ACVR2A	-	pfam_Activin_rcpt		0.368	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	G	NM_001616		148654009	+1	no_errors	ENST00000241416	ensembl	human	known	70_37	missense	SNP	1.000	T
ACVR2A	92	genome.wustl.edu	37	2	148674879	148674879	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:148674879G>A	ENST00000241416.7	+	6	1336	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	ACVR2A_ENST00000404590.1_Missense_Mutation_p.E234K|ACVR2A_ENST00000535787.1_Missense_Mutation_p.E126K	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AAATGAATACGAAGTCTACAG	0.383																																																	0													94.0	79.0	84.0					2																	148674879		2202	4300	6502	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.700G>A	2.37:g.148674879G>A	ENSP00000241416:p.Glu234Lys		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.E234K	ENST00000241416.7	37	c.700	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.698260	0.96802	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.84873	-1.91;-1.91;-1.91	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044155	0.85682	D	0.000000	D	0.90515	0.7028	M	0.84948	2.725	0.80722	D	1	D	0.56035	0.974	P	0.49421	0.61	D	0.91862	0.5500	10	0.87932	D	0	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	234	P27037	AVR2A_HUMAN	K	234;126;234	ENSP00000241416:E234K;ENSP00000439988:E126K;ENSP00000384338:E234K	ENSP00000241416:E234K	E	+	1	0	ACVR2A	148391349	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.841000	0.99482	2.702000	0.92279	0.655000	0.94253	GAA	ACVR2A	-	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		0.383	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	G	NM_001616		148674879	+1	no_errors	ENST00000241416	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAM19	8728	genome.wustl.edu	37	5	156997957	156997957	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:156997957C>A	ENST00000517905.1	-	2	170	c.126G>T	c.(124-126)caG>caT	p.Q42H	ADAM19_ENST00000394020.1_Missense_Mutation_p.Q44H|ADAM19_ENST00000257527.4_Missense_Mutation_p.Q42H|ADAM19_ENST00000430702.2_5'UTR|AC106801.1_ENST00000518054.1_RNA			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	42					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAGTTCATGCTGCAGCTTGG	0.483																																																	0													119.0	115.0	116.0					5																	156997957		2203	4300	6503	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.126G>T	5.37:g.156997957C>A	ENSP00000428654:p.Gln42His		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.Q44H	ENST00000517905.1	37	c.132		5	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467163	0.43839	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.01538	4.8;4.82;4.79	5.03	4.15	0.48705	.	0.000000	0.52532	D	0.000077	T	0.02012	0.0063	L	0.41356	1.27	0.35063	D	0.761775	B	0.09022	0.002	B	0.12156	0.007	T	0.42832	-0.9428	10	0.23891	T	0.37	.	10.1207	0.42618	0.0:0.9045:0.0:0.0955	.	42	Q9H013-2	.	H	42;44;42	ENSP00000257527:Q42H;ENSP00000377588:Q44H;ENSP00000428654:Q42H	ENSP00000257527:Q42H	Q	-	3	2	ADAM19	156930535	0.997000	0.39634	0.999000	0.59377	0.824000	0.46624	0.428000	0.21395	1.206000	0.43276	0.655000	0.94253	CAG	ADAM19	-	pfam_Peptidase_M12B_N		0.483	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	C	NM_033274		156997957	-1	no_errors	ENST00000394020	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAM2	2515	genome.wustl.edu	37	8	39613390	39613390	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:39613390T>G	ENST00000265708.4	-	16	1757	c.1654A>C	c.(1654-1656)Aaa>Caa	p.K552Q	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.K533Q|AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	552	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AATAAAAATTTACCTACATAT	0.299																																																	0													59.0	63.0	62.0					8																	39613390		2202	4298	6500	SO:0001583	missense	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1654A>C	8.37:g.39613390T>G	ENSP00000265708:p.Lys552Gln		P78326|Q9UQQ8	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.K552Q	ENST00000265708.4	37	c.1654	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	T	4.000	-0.002684	0.07819	.	.	ENSG00000104755	ENST00000347580;ENST00000265708	T;T	0.22743	1.94;1.94	4.57	-9.14	0.00701	ADAM, cysteine-rich (2);	.	.	.	.	T	0.12817	0.0311	N	0.25245	0.725	0.09310	N	1	B;B	0.15719	0.012;0.014	B;B	0.25506	0.061;0.043	T	0.39354	-0.9618	8	.	.	.	.	14.9828	0.71324	0.0855:0.0967:0.0:0.8178	.	533;552	Q99965-2;Q99965	.;ADAM2_HUMAN	Q	533;552	ENSP00000343854:K533Q;ENSP00000265708:K552Q	.	K	-	1	0	ADAM2	39732547	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.275000	0.00530	-3.554000	0.00142	-2.021000	0.00431	AAA	ADAM2	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.299	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	HGNC	protein_coding	OTTHUMT00000376926.1	T	NM_001464		39613390	-1	no_errors	ENST00000265708	ensembl	human	known	70_37	missense	SNP	0.000	G
ADAM21	8747	genome.wustl.edu	37	14	70924354	70924354	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:70924354G>T	ENST00000603540.1	+	2	396	c.138G>T	c.(136-138)ttG>ttT	p.L46F	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.L46F	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	46					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGATCCCCTTGAAGGTGATCA	0.542																																																	0													90.0	95.0	93.0					14																	70924354		2203	4300	6503	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.138G>T	14.37:g.70924354G>T	ENSP00000474385:p.Leu46Phe		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L46F	ENST00000603540.1	37	c.138	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598420	0.28445	.	.	ENSG00000139985	ENST00000267499	T	0.06068	3.35	3.77	1.73	0.24493	Peptidase M12B, propeptide (1);	0.246452	0.19741	U	0.107108	T	0.16896	0.0406	M	0.86953	2.85	0.09310	N	1	B	0.31931	0.347	P	0.45794	0.493	T	0.06789	-1.0807	10	0.62326	D	0.03	.	6.3104	0.21161	0.1886:0.1539:0.6576:0.0	.	46	Q9UKJ8	ADA21_HUMAN	F	46	ENSP00000267499:L46F	ENSP00000267499:L46F	L	+	3	2	ADAM21	69994107	0.104000	0.21937	0.978000	0.43139	0.590000	0.36582	0.669000	0.25142	0.922000	0.37019	0.563000	0.77884	TTG	ADAM21	-	pfam_Peptidase_M12B_N		0.542	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	G			70924354	+1	no_errors	ENST00000267499	ensembl	human	known	70_37	missense	SNP	0.032	T
ADAM21P1	145241	genome.wustl.edu	37	14	70714445	70714445	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:70714445C>A	ENST00000530196.1	-	0	73					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CACTGCTGGTCTGGCTTCTCC	0.512																																																	0																																												145241					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714445C>A				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-		0.512	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	C	NG_002467		70714445	-1	no_errors	ENST00000530196	ensembl	human	known	70_37	rna	SNP	0.016	A
ADAM21	8747	genome.wustl.edu	37	14	70924619	70924619	+	Missense_Mutation	SNP	G	G	T	rs201084163		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:70924619G>T	ENST00000603540.1	+	2	661	c.403G>T	c.(403-405)Gta>Tta	p.V135L	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.V135L	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	135					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTTTCGAGGAGTATTAAAAAT	0.433																																																	0													69.0	79.0	76.0					14																	70924619		2202	4300	6502	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.403G>T	14.37:g.70924619G>T	ENSP00000474385:p.Val135Leu		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.V135L	ENST00000603540.1	37	c.403	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033658	0.02029	.	.	ENSG00000139985	ENST00000267499	T	0.05258	3.47	3.76	-3.48	0.04739	Peptidase M12B, propeptide (1);	0.453466	0.17708	U	0.164677	T	0.02494	0.0076	N	0.11892	0.195	0.09310	N	1	B	0.13594	0.008	B	0.18871	0.023	T	0.45498	-0.9257	10	0.10636	T	0.68	.	5.9378	0.19175	0.5346:0.0:0.3447:0.1207	.	135	Q9UKJ8	ADA21_HUMAN	L	135	ENSP00000267499:V135L	ENSP00000267499:V135L	V	+	1	0	ADAM21	69994372	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.539000	0.06113	-0.637000	0.05516	-0.321000	0.08615	GTA	ADAM21	-	pfam_Peptidase_M12B_N		0.433	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	G			70924619	+1	no_errors	ENST00000267499	ensembl	human	known	70_37	missense	SNP	0.000	T
ADAM22	53616	genome.wustl.edu	37	7	87810903	87810903	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:87810903G>A	ENST00000265727.7	+	28	2571	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	ADAM22_ENST00000398209.3_Missense_Mutation_p.R795Q|ADAM22_ENST00000398204.4_Missense_Mutation_p.R795Q|ADAM22_ENST00000315984.7_Missense_Mutation_p.R795Q|ADAM22_ENST00000398201.4_Missense_Mutation_p.R831Q			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	831					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCGACCTCGAAGTAACTCT	0.403																																																	0													79.0	71.0	73.0					7																	87810903		1854	4099	5953	SO:0001583	missense	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2492G>A	7.37:g.87810903G>A	ENSP00000265727:p.Arg831Gln		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R831Q	ENST00000265727.7	37	c.2492	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804167	0.90623	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.52295	4.35;4.23;4.21;4.02;4.04;3.95;0.67	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	L	0.47716	1.5	0.44136	D	0.996926	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.996;0.998	T	0.63198	-0.6691	10	0.52906	T	0.07	.	20.004	0.97428	0.0:0.0:1.0:0.0	.	883;795;831;795	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	Q	795;831;831;795;795;798;189	ENSP00000381262:R795Q;ENSP00000381260:R831Q;ENSP00000265727:R831Q;ENSP00000315900:R795Q;ENSP00000381267:R795Q;ENSP00000381261:R798Q;ENSP00000396233:R189Q	ENSP00000265727:R831Q	R	+	2	0	ADAM22	87648839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.728000	0.93425	0.655000	0.94253	CGA	ADAM22	-	NULL		0.403	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	G	NM_021723		87810903	+1	no_errors	ENST00000265727	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAM23	8745	genome.wustl.edu	37	2	207435488	207435488	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:207435488A>C	ENST00000264377.3	+	16	1847	c.1519A>C	c.(1519-1521)Aat>Cat	p.N507H	ADAM23_ENST00000374416.1_Missense_Mutation_p.N507H|ADAM23_ENST00000374415.3_Missense_Mutation_p.N507H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	507	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGAATGTGGAAATGGATACGT	0.418																																					Melanoma(194;1127 2130 19620 24042 27855)												0													210.0	191.0	197.0					2																	207435488		2203	4300	6503	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1519A>C	2.37:g.207435488A>C	ENSP00000264377:p.Asn507His		A2RU59	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.N507H	ENST00000264377.3	37	c.1519	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384205	0.82792	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.03607	3.88;3.87;3.87	5.91	5.91	0.95273	Blood coagulation inhibitor, Disintegrin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000006	T	0.38161	0.1030	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66284	-0.5962	10	0.87932	D	0	.	16.004	0.80344	1.0:0.0:0.0:0.0	.	507	O75077	ADA23_HUMAN	H	507;507;401;507	ENSP00000264377:N507H;ENSP00000363537:N507H;ENSP00000363536:N507H	ENSP00000264377:N507H	N	+	1	0	ADAM23	207143733	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.778000	0.85637	2.263000	0.75096	0.379000	0.24179	AAT	ADAM23	-	pfscan_Blood-coag_inhib_Disintegrin		0.418	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	A	NM_003812		207435488	+1	no_errors	ENST00000264377	ensembl	human	known	70_37	missense	SNP	1.000	C
ADAM32	203102	genome.wustl.edu	37	8	39007329	39007329	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:39007329G>A	ENST00000379907.4	+	5	423	c.296G>A	c.(295-297)gGa>gAa	p.G99E	ADAM32_ENST00000437682.2_Missense_Mutation_p.G106E|ADAM32_ENST00000519315.1_Missense_Mutation_p.G99E	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	99						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TACTATCAAGGAAATATTGAA	0.348																																																	0													125.0	116.0	119.0					8																	39007329		1878	4109	5987	SO:0001583	missense	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.296G>A	8.37:g.39007329G>A	ENSP00000369238:p.Gly99Glu		Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.G99E	ENST00000379907.4	37	c.296	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953796	0.73902	.	.	ENSG00000197140	ENST00000523400;ENST00000399831;ENST00000437682;ENST00000519315;ENST00000379907;ENST00000522506;ENST00000521741;ENST00000399826	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.16	5.16	0.70880	Peptidase M12B, propeptide (1);	0.000000	0.32703	N	0.005759	T	0.79353	0.4431	H	0.97315	3.98	0.38385	D	0.94523	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87360	0.2343	10	0.87932	D	0	.	14.4877	0.67629	0.0:0.0:1.0:0.0	.	106;99;99	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	E	130;99;106;99;99;99;25;100	ENSP00000427735:G130E;ENSP00000382727:G99E;ENSP00000405978:G106E;ENSP00000429422:G99E;ENSP00000369238:G99E;ENSP00000429066:G99E;ENSP00000431050:G25E	ENSP00000369238:G99E	G	+	2	0	ADAM32	39126486	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.672000	0.61597	2.577000	0.86979	0.655000	0.94253	GGA	ADAM32	-	pfam_Peptidase_M12B_N		0.348	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	G	NM_145004		39007329	+1	no_errors	ENST00000379907	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS10	81794	genome.wustl.edu	37	19	8670176	8670176	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:8670176T>C	ENST00000597188.1	-	4	426	c.156A>G	c.(154-156)gcA>gcG	p.A52A	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Silent_p.A52A	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	52						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGGCCAGCAGTGCCCCGTTGT	0.687																																																	0													27.0	23.0	24.0					19																	8670176		2203	4299	6502	SO:0001819	synonymous_variant	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.156A>G	19.37:g.8670176T>C			M0QZE4	Silent	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A52	ENST00000597188.1	37	c.156	CCDS12206.1	19																																																																																			ADAMTS10	-	pfam_Peptidase_M12B_N		0.687	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	T	NM_030957		8670176	-1	no_errors	ENST00000270328	ensembl	human	known	70_37	silent	SNP	0.628	C
ADAMTS17	170691	genome.wustl.edu	37	15	100594175	100594175	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:100594175A>G	ENST00000268070.4	-	16	2327	c.2222T>C	c.(2221-2223)gTt>gCt	p.V741A		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	741	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CACATAGCGAACAGTTGTGCC	0.522																																																	0													231.0	223.0	226.0					15																	100594175		2203	4300	6503	SO:0001583	missense	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2222T>C	15.37:g.100594175A>G	ENSP00000268070:p.Val741Ala		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V741A	ENST00000268070.4	37	c.2222	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	A	28.1	4.894827	0.91962	.	.	ENSG00000140470	ENST00000268070	T	0.52754	0.65	5.9	5.9	0.94986	ADAM-TS Spacer 1 (1);	0.164682	0.38837	N	0.001541	T	0.57504	0.2058	M	0.63428	1.95	0.58432	D	0.999997	P	0.50819	0.939	P	0.50590	0.645	T	0.59064	-0.7524	10	0.49607	T	0.09	.	16.315	0.82915	1.0:0.0:0.0:0.0	.	741	Q8TE56	ATS17_HUMAN	A	741	ENSP00000268070:V741A	ENSP00000268070:V741A	V	-	2	0	ADAMTS17	98411698	1.000000	0.71417	0.976000	0.42696	0.786000	0.44442	8.743000	0.91592	2.250000	0.74265	0.533000	0.62120	GTT	ADAMTS17	-	pfam_ADAM_spacer1		0.522	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	A	NM_139057		100594175	-1	no_errors	ENST00000268070	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAMTS18	170692	genome.wustl.edu	37	16	77325241	77325241	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:77325241C>T	ENST00000282849.5	-	21	3742	c.3324G>A	c.(3322-3324)gaG>gaA	p.E1108E	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1108	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGTTGCAGGTCTCTTCCAAGT	0.527																																																	0													170.0	169.0	169.0					16																	77325241		2198	4300	6498	SO:0001819	synonymous_variant	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3324G>A	16.37:g.77325241C>T			Q6P4R5|Q6ZWJ9	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1108	ENST00000282849.5	37	c.3324	CCDS10926.1	16																																																																																			ADAMTS18	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.527	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	C			77325241	-1	no_errors	ENST00000282849	ensembl	human	known	70_37	silent	SNP	0.314	T
ADAMTS2	9509	genome.wustl.edu	37	5	178540923	178540923	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:178540923C>A	ENST00000251582.7	-	22	3682	c.3581G>T	c.(3580-3582)aGa>aTa	p.R1194I		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1194					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTCTTGGATTCTTTGGTTTCT	0.438																																																	0													164.0	165.0	165.0					5																	178540923		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3581G>T	5.37:g.178540923C>A	ENSP00000251582:p.Arg1194Ile			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.R1194I	ENST00000251582.7	37	c.3581	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656634	0.88154	.	.	ENSG00000087116	ENST00000251582	T	0.66638	-0.22	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000022	T	0.74997	0.3790	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.78125	-0.2326	10	0.87932	D	0	.	17.7749	0.88504	0.0:1.0:0.0:0.0	.	1194	O95450	ATS2_HUMAN	I	1194	ENSP00000251582:R1194I	ENSP00000251582:R1194I	R	-	2	0	ADAMTS2	178473529	1.000000	0.71417	0.843000	0.33291	0.979000	0.70002	6.237000	0.72345	2.417000	0.82017	0.561000	0.74099	AGA	ADAMTS2	-	NULL		0.438	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	C	NM_014244		178540923	-1	no_errors	ENST00000251582	ensembl	human	known	70_37	missense	SNP	0.983	A
ADAMTS20	80070	genome.wustl.edu	37	12	43771257	43771257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:43771257C>A	ENST00000389420.3	-	32	4905	c.4906G>T	c.(4906-4908)Gaa>Taa	p.E1636*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1636	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACAGGGCATTCTTGATAAACT	0.433																																																	0													131.0	119.0	123.0					12																	43771257		2203	4300	6503	SO:0001587	stop_gained	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4906G>T	12.37:g.43771257C>A	ENSP00000374071:p.Glu1636*		A6NNC9|J3QT00	Nonsense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1636*	ENST00000389420.3	37	c.4906	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	40	8.241230	0.98722	.	.	ENSG00000173157	ENST00000389420	.	.	.	5.08	4.18	0.49190	.	0.243646	0.28021	N	0.016918	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	10.0295	0.42092	0.0:0.7873:0.1391:0.0736	.	.	.	.	X	1636	.	ENSP00000374071:E1636X	E	-	1	0	ADAMTS20	42057524	0.989000	0.36119	0.975000	0.42487	0.126000	0.20510	1.476000	0.35420	1.440000	0.47531	0.655000	0.94253	GAA	ADAMTS20	-	superfamily_Thrombospondin_1_rpt		0.433	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43771257	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	nonsense	SNP	0.999	A
ADAMTS3	9508	genome.wustl.edu	37	4	73148890	73148890	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:73148890T>C	ENST00000286657.4	-	22	3617	c.3581A>G	c.(3580-3582)aAc>aGc	p.N1194S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1194					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CGGACGTCTGTTGTCAATGAT	0.448																																					NSCLC(168;1941 2048 2918 13048 43078)												0													155.0	142.0	147.0					4																	73148890		2203	4300	6503	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3581A>G	4.37:g.73148890T>C	ENSP00000286657:p.Asn1194Ser		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.N1194S	ENST00000286657.4	37	c.3581	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	T	2.762	-0.257578	0.05791	.	.	ENSG00000156140	ENST00000286657	T	0.60424	0.19	5.42	0.442	0.16582	.	0.462231	0.19808	N	0.105586	T	0.30541	0.0768	N	0.08118	0	0.20873	N	0.999839	B	0.06786	0.001	B	0.06405	0.002	T	0.18241	-1.0343	10	0.15952	T	0.53	.	9.4766	0.38875	0.0:0.3701:0.0:0.6299	.	1194	O15072	ATS3_HUMAN	S	1194	ENSP00000286657:N1194S	ENSP00000286657:N1194S	N	-	2	0	ADAMTS3	73367754	0.973000	0.33851	0.359000	0.25824	0.015000	0.08874	0.400000	0.20932	0.072000	0.16694	-0.376000	0.06991	AAC	ADAMTS3	-	NULL		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	T			73148890	-1	no_errors	ENST00000286657	ensembl	human	known	70_37	missense	SNP	0.928	C
ADAMTS9	56999	genome.wustl.edu	37	3	64644459	64644459	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:64644459T>G	ENST00000498707.1	-	4	1030	c.688A>C	c.(688-690)Aat>Cat	p.N230H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.N230H|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.N230H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	230					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGTGCCTATTTTTGTGTTCT	0.363																																																	0													150.0	143.0	145.0					3																	64644459		2202	4300	6502	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.688A>C	3.37:g.64644459T>G	ENSP00000418735:p.Asn230His		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.N230H	ENST00000498707.1	37	c.688	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	T	0.106	-1.145520	0.01714	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.61742	0.26;0.28;0.08	6.01	2.12	0.27331	.	0.614226	0.17317	N	0.178677	T	0.30696	0.0773	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.17228	-1.0376	10	0.14656	T	0.56	.	7.7277	0.28769	0.0:0.1511:0.1572:0.6916	.	230;230;230;230	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	H	230	ENSP00000295903:N230H;ENSP00000418735:N230H;ENSP00000419217:N230H	ENSP00000295903:N230H	N	-	1	0	ADAMTS9	64619499	0.055000	0.20627	0.003000	0.11579	0.185000	0.23345	1.278000	0.33179	0.533000	0.28675	0.528000	0.53228	AAT	ADAMTS9	-	NULL		0.363	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	T			64644459	-1	no_errors	ENST00000498707	ensembl	human	known	70_37	missense	SNP	0.001	G
ADAMTSL1	92949	genome.wustl.edu	37	9	18574115	18574115	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:18574115C>T	ENST00000380548.4	+	4	664	c.325C>T	c.(325-327)Ctt>Ttt	p.L109F	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.L109F|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.L109F|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L109F|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.L109F|MIR3152_ENST00000579801.1_RNA|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.L109F	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	109						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTATGAATGGCTTCCTGTGTC	0.478																																																	0													165.0	147.0	153.0					9																	18574115		2203	4300	6503	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.325C>T	9.37:g.18574115C>T	ENSP00000369921:p.Leu109Phe		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.L109F	ENST00000380548.4	37	c.325	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562759	0.86335	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.03607	3.87;7.34;7.34;7.34;7.34;7.34	5.25	5.25	0.73442	.	.	.	.	.	T	0.14743	0.0356	L	0.53729	1.69	0.80722	D	1	D;D	0.76494	0.999;0.957	D;P	0.68765	0.96;0.779	T	0.00708	-1.1600	9	0.39692	T	0.17	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	109;109	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	F	109	ENSP00000369921:L109F;ENSP00000327887:L109F;ENSP00000401157:L109F;ENSP00000369944:L109F;ENSP00000369940:L109F;ENSP00000276935:L109F	ENSP00000276935:L109F	L	+	1	0	ADAMTSL1	18564115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.551000	0.60740	2.620000	0.88729	0.643000	0.83706	CTT	ADAMTSL1	-	NULL		0.478	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	C			18574115	+1	no_errors	ENST00000327883	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTSL1	92949	genome.wustl.edu	37	9	18622252	18622252	+	Silent	SNP	C	C	T	rs374475613		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:18622252C>T	ENST00000380548.4	+	5	825	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	162						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512																																																	0								C	,	0,4406		0,0,2203	103.0	92.0	96.0		486,486	-7.9	0.8	9		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADAMTSL1	NM_001040272.5,NM_052866.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	162/1763,162/526	18622252	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.486C>T	9.37:g.18622252C>T			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.C162	ENST00000380548.4	37	c.486	CCDS47954.1	9																																																																																			ADAMTSL1	-	prints_Peptidase_M12B_ADAM-TS		0.512	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	C			18622252	+1	no_errors	ENST00000327883	ensembl	human	known	70_37	silent	SNP	0.970	T
ADAMTSL3	57188	genome.wustl.edu	37	15	84568399	84568399	+	Splice_Site	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:84568399A>G	ENST00000286744.5	+	15	1840	c.1616A>G	c.(1615-1617)gAa>gGa	p.E539G	ADAMTSL3_ENST00000567476.1_Splice_Site_p.E539G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	539						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTTTCTTAGAAAAAAGTCCA	0.368																																																	0													71.0	65.0	67.0					15																	84568399		2203	4300	6503	SO:0001630	splice_region_variant	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1616-1A>G	15.37:g.84568399A>G			A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.E539G	ENST00000286744.5	37	c.1616	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	A	16.09	3.025402	0.54683	.	.	ENSG00000156218	ENST00000286744	T	0.66995	-0.24	5.26	5.26	0.73747	.	0.055338	0.64402	D	0.000001	T	0.54111	0.1838	L	0.32530	0.975	0.58432	D	0.999997	B;B	0.15473	0.013;0.001	B;B	0.14578	0.011;0.0	T	0.49588	-0.8924	9	.	.	.	.	12.9268	0.58264	1.0:0.0:0.0:0.0	.	539;539	P82987-2;P82987	.;ATL3_HUMAN	G	539	ENSP00000286744:E539G	.	E	+	2	0	ADAMTSL3	82359403	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.720000	0.84759	1.989000	0.58080	0.523000	0.50628	GAA	ADAMTSL3	-	NULL		0.368	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	A	NM_207517	Missense_Mutation	84568399	+1	no_errors	ENST00000286744	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAP2	55803	genome.wustl.edu	37	17	29250063	29250063	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:29250063A>T	ENST00000330889.3	+	2	535	c.200A>T	c.(199-201)gAc>gTc	p.D67V	ADAP2_ENST00000580525.1_Missense_Mutation_p.D67V	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	67	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GTGCGACTTGACTTCTGGGAC	0.567																																																	1	Unknown(1)	central_nervous_system(1)											157.0	155.0	155.0					17																	29250063		2203	4300	6503	SO:0001583	missense	55803			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.200A>T	17.37:g.29250063A>T	ENSP00000329468:p.Asp67Val		Q8N4Q6|Q96SD5	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.D67V	ENST00000330889.3	37	c.200	CCDS11261.1	17	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661469	0.47572	.	.	ENSG00000184060	ENST00000330889	T	0.60040	0.22	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	H	0.99464	4.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.997;0.998	D	0.91731	0.5396	10	0.87932	D	0	.	13.6973	0.62587	1.0:0.0:0.0:0.0	.	67;67;67	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	V	67	ENSP00000329468:D67V	ENSP00000329468:D67V	D	+	2	0	ADAP2	26274189	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.864000	0.75494	2.129000	0.65627	0.459000	0.35465	GAC	ADAP2	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.567	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAP2	HGNC	protein_coding	OTTHUMT00000256346.1	A	NM_018404		29250063	+1	no_errors	ENST00000330889	ensembl	human	known	70_37	missense	SNP	1.000	T
ADARB2	105	genome.wustl.edu	37	10	1246192	1246192	+	Intron	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:1246192A>G	ENST00000381312.1	-	8	2008				ADARB2_ENST00000381310.3_Silent_p.D35D|ADARB2_ENST00000381305.1_Intron	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CAGTCTTCCCATCGTGCGGAC	0.682																																																	0																																										SO:0001627	intron_variant	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1683-105T>C	10.37:g.1246192A>G			B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	p.D35	ENST00000381312.1	37	c.105	CCDS7058.1	10																																																																																			ADARB2	-	smart_A_deamin		0.682	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	HGNC	protein_coding	OTTHUMT00000046426.1	A	NM_018702		1246192	-1	no_errors	ENST00000381310	ensembl	human	known	70_37	silent	SNP	0.000	G
ADARB2	105	genome.wustl.edu	37	10	1262869	1262869	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:1262869G>A	ENST00000381312.1	-	7	2008				ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CAACATCCTCGAGAGGAAGCC	0.667																																																	0													34.0	31.0	32.0					10																	1262869		2203	4300	6503	SO:0001627	intron_variant	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1682+21C>T	10.37:g.1262869G>A			B2RPJ5|Q5VUT6|Q5VW42	RNA	SNP	-	NULL	ENST00000381312.1	37	NULL	CCDS7058.1	10																																																																																			ADARB2	-	-		0.667	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	HGNC	protein_coding	OTTHUMT00000046426.1	G	NM_018702		1262869	-1	no_errors	ENST00000469464	ensembl	human	known	70_37	rna	SNP	0.000	A
ADCY10	55811	genome.wustl.edu	37	1	167829121	167829121	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:167829121G>T	ENST00000367851.4	-	16	2004	c.1820C>A	c.(1819-1821)tCt>tAt	p.S607Y	ADCY10_ENST00000367848.1_Missense_Mutation_p.S515Y|ADCY10_ENST00000545172.1_Missense_Mutation_p.S454Y	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	607					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AATCTCCCGAGAAATAGGGAA	0.373																																																	0													111.0	118.0	115.0					1																	167829121		2203	4300	6503	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1820C>A	1.37:g.167829121G>T	ENSP00000356825:p.Ser607Tyr		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.S607Y	ENST00000367851.4	37	c.1820	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820529	0.32145	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.62788	0.0;0.0;0.0	5.61	5.61	0.85477	.	0.114632	0.38217	N	0.001775	T	0.71962	0.3402	M	0.68952	2.095	0.32980	D	0.523586	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.69479	0.964;0.964;0.921	T	0.74509	-0.3642	9	0.66056	D	0.02	-10.5861	15.4922	0.75615	0.0:0.0:1.0:0.0	.	454;515;607	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	Y	454;607;515	ENSP00000441992:S454Y;ENSP00000356825:S607Y;ENSP00000356822:S515Y	ENSP00000356822:S515Y	S	-	2	0	ADCY10	166095745	0.982000	0.34865	0.042000	0.18584	0.002000	0.02628	4.573000	0.60893	2.793000	0.96121	0.655000	0.94253	TCT	ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.373	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	G	NM_018417		167829121	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	missense	SNP	0.062	T
ADCY5	111	genome.wustl.edu	37	3	123051434	123051434	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:123051434C>T	ENST00000462833.1	-	4	2707	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T	ADCY5_ENST00000491190.1_Missense_Mutation_p.A132T|ADCY5_ENST00000309879.5_Missense_Mutation_p.A149T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	499	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)		TCAAAGCGGGCGAAGAGCTCG	0.637																																																	0													43.0	39.0	40.0					3																	123051434		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.1495G>A	3.37:g.123051434C>T	ENSP00000419361:p.Ala499Thr		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.A499T	ENST00000462833.1	37	c.1495	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.742268	0.96873	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617;ENST00000483566	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	4.77	4.77	0.60923	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.89171	0.6639	L	0.37800	1.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.90556	0.4512	10	0.87932	D	0	.	17.9877	0.89159	0.0:1.0:0.0:0.0	.	499;132	O95622;B3KWA8	ADCY5_HUMAN;.	T	499;132;149;58;58	ENSP00000419361:A499T;ENSP00000418537:A132T;ENSP00000308685:A149T;ENSP00000420082:A58T;ENSP00000420252:A58T	ENSP00000308685:A149T	A	-	1	0	ADCY5	124534124	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.651000	0.83577	2.485000	0.83878	0.484000	0.47621	GCC	ADCY5	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.637	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	C	XM_171048		123051434	-1	no_errors	ENST00000462833	ensembl	human	known	70_37	missense	SNP	1.000	T
ADCY9	115	genome.wustl.edu	37	16	4015835	4015835	+	Missense_Mutation	SNP	C	C	T	rs374081146		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:4015835C>T	ENST00000294016.3	-	11	4541	c.4003G>A	c.(4003-4005)Gaa>Aaa	p.E1335K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1335					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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATTCCTGTTTCGTCACAGTCG	0.552																																																	0								C	LYS/GLU	1,4393	2.1+/-5.4	0,1,2196	197.0	183.0	187.0		4003	5.5	0.5	16		187	0,8600		0,0,4300	no	missense	ADCY9	NM_001116.3	56	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	1335/1354	4015835	1,12993	2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.4003G>A	16.37:g.4015835C>T	ENSP00000294016:p.Glu1335Lys		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E1335K	ENST00000294016.3	37	c.4003	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993856	0.35131	2.28E-4	0.0	ENSG00000162104	ENST00000294016	D	0.83506	-1.73	5.53	5.53	0.82687	.	0.526339	0.19609	N	0.110188	T	0.73133	0.3548	L	0.27053	0.805	0.40897	D	0.984128	P	0.36483	0.555	B	0.23716	0.048	T	0.73649	-0.3916	10	0.36615	T	0.2	.	19.8218	0.96599	0.0:1.0:0.0:0.0	.	1335	O60503	ADCY9_HUMAN	K	1335	ENSP00000294016:E1335K	ENSP00000294016:E1335K	E	-	1	0	ADCY9	3955836	0.899000	0.30636	0.472000	0.27241	0.021000	0.10359	3.381000	0.52455	2.769000	0.95229	0.655000	0.94253	GAA	ADCY9	-	NULL		0.552	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	C			4015835	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	0.947	T
ADIPOQ	9370	genome.wustl.edu	37	3	186570919	186570919	+	Silent	SNP	G	G	A	rs201945112		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:186570919G>A	ENST00000412955.2	+	2	213	c.72G>A	c.(70-72)ggG>ggA	p.G24G	ADIPOQ_ENST00000444204.2_Silent_p.G24G|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Silent_p.G24G			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	24					adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CGACTCAAGGGCCCGGAGTCC	0.627																																																	0													71.0	69.0	69.0					3																	186570919		2203	4300	6503	SO:0001819	synonymous_variant	9370			D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.72G>A	3.37:g.186570919G>A			Q58EX9	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G24	ENST00000412955.2	37	c.72	CCDS3284.1	3																																																																																			ADIPOQ	-	NULL		0.627	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOQ	HGNC	protein_coding	OTTHUMT00000344490.2	G	NM_004797		186570919	+1	no_errors	ENST00000320741	ensembl	human	known	70_37	silent	SNP	0.000	A
ADNP	23394	genome.wustl.edu	37	20	49510335	49510335	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:49510335G>A	ENST00000396029.3	-	5	1483	c.916C>T	c.(916-918)Cga>Tga	p.R306*	ADNP_ENST00000371602.4_Nonsense_Mutation_p.R306*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.R306*|ADNP_ENST00000396032.3_Nonsense_Mutation_p.R306*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	306					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATTGAGAGTCGATTCACCATC	0.463																																																	0													148.0	126.0	133.0					20																	49510335		2203	4300	6503	SO:0001587	stop_gained	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.916C>T	20.37:g.49510335G>A	ENSP00000379346:p.Arg306*		E1P5Y2|O94881|Q5BKU2|Q9UG34	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R306*	ENST00000396029.3	37	c.916	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	G	40	8.055594	0.98632	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.91	3.94	0.45596	.	0.121052	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-23.4126	9.5947	0.39567	0.0677:0.0:0.6655:0.2668	.	.	.	.	X	306	.	ENSP00000342905:R306X	R	-	1	2	ADNP	48943742	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.982000	0.40638	0.821000	0.34540	0.655000	0.94253	CGA	ADNP	-	NULL		0.463	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	G	NM_181442		49510335	-1	no_errors	ENST00000349014	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ADNP2	22850	genome.wustl.edu	37	18	77896353	77896353	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:77896353A>G	ENST00000262198.4	+	4	3512	c.3057A>G	c.(3055-3057)agA>agG	p.R1019R		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1019					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTTTTAAAAGACAAAGGAATG	0.493																																																	0													48.0	54.0	52.0					18																	77896353		2202	4300	6502	SO:0001819	synonymous_variant	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3057A>G	18.37:g.77896353A>G			A8K951|O94943|Q9H9P3	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.R1019	ENST00000262198.4	37	c.3057	CCDS32853.1	18																																																																																			ADNP2	-	NULL		0.493	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	A	NM_014913		77896353	+1	no_errors	ENST00000262198	ensembl	human	known	70_37	silent	SNP	0.998	G
ADORA1	134	genome.wustl.edu	37	1	203134602	203134602	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:203134602C>A	ENST00000367236.4	+	3	1476	c.555C>A	c.(553-555)ttC>ttA	p.F185L	ADORA1_ENST00000337894.4_Missense_Mutation_p.F185L|ADORA1_ENST00000309502.3_Missense_Mutation_p.F185L|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	185					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.F185L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	ACTTCAACTTCTTTGTGTGGG	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											173.0	176.0	175.0					1																	203134602		2203	4300	6503	SO:0001583	missense	134			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.555C>A	1.37:g.203134602C>A	ENSP00000356205:p.Phe185Leu		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.F185L	ENST00000367236.4	37	c.555	CCDS1434.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361112	0.82353	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.69926	-0.44;-0.44;-0.44	5.18	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.932;0.999;0.988	T	0.67373	-0.5687	10	0.24483	T	0.36	-45.826	11.1022	0.48182	0.0:0.8525:0.0:0.1475	.	218;117;185	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	L	185	ENSP00000308549:F185L;ENSP00000356205:F185L;ENSP00000338435:F185L	ENSP00000308549:F185L	F	+	3	2	ADORA1	201401225	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.571000	0.45990	2.586000	0.87340	0.561000	0.74099	TTC	ADORA1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.572	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	HGNC	protein_coding	OTTHUMT00000100273.1	C	NM_000674		203134602	+1	no_errors	ENST00000309502	ensembl	human	known	70_37	missense	SNP	1.000	A
AFF2	2334	genome.wustl.edu	37	X	147743667	147743667	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:147743667C>A	ENST00000370460.2	+	3	898	c.419C>A	c.(418-420)tCt>tAt	p.S140Y	AFF2_ENST00000342251.3_Missense_Mutation_p.S136Y|AFF2_ENST00000370457.5_Missense_Mutation_p.S136Y|AFF2_ENST00000370458.1_Missense_Mutation_p.S136Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	140					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCACCTTCTGTTGTGATA	0.413																																																	0													223.0	218.0	220.0					X																	147743667		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.419C>A	X.37:g.147743667C>A	ENSP00000359489:p.Ser140Tyr		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S140Y	ENST00000370460.2	37	c.419	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484041	0.63962	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.63	5.63	0.86233	.	0.116813	0.64402	D	0.000015	T	0.75170	0.3813	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998;0.996	D;D;D;D;D;D	0.83275	0.935;0.935;0.935;0.992;0.996;0.914	T	0.78244	-0.2279	10	0.87932	D	0	.	18.7174	0.91680	0.0:1.0:0.0:0.0	.	140;136;136;136;140;136	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	Y	140;136;136;136	ENSP00000359489:S140Y;ENSP00000359486:S136Y;ENSP00000345459:S136Y;ENSP00000359487:S136Y	ENSP00000345459:S136Y	S	+	2	0	AFF2	147551359	1.000000	0.71417	0.935000	0.37517	0.993000	0.82548	6.223000	0.72257	2.365000	0.80145	0.600000	0.82982	TCT	AFF2	-	pfam_TF_AF4/FMR2		0.413	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	C	NM_002025		147743667	+1	no_errors	ENST00000370460	ensembl	human	known	70_37	missense	SNP	0.934	A
AFF3	3899	genome.wustl.edu	37	2	100185376	100185376	+	Splice_Site	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:100185376G>A	ENST00000409236.2	-	17	3032	c.2920C>T	c.(2920-2922)Cct>Tct	p.P974S	AFF3_ENST00000409579.1_Splice_Site_p.P999S|AFF3_ENST00000317233.4_Splice_Site_p.P974S|AFF3_ENST00000356421.2_Splice_Site_p.P999S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	974					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCACTGCGAGGCCTACAAGGA	0.363																																																	0													158.0	145.0	150.0					2																	100185376		2203	4300	6503	SO:0001630	splice_region_variant	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2919-1C>T	2.37:g.100185376G>A			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.P999S	ENST00000409236.2	37	c.2995	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230177	0.58777	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.87	5.87	0.94306	.	0.060252	0.64402	D	0.000002	T	0.73946	0.3652	L	0.54908	1.71	0.58432	D	0.999996	B;D	0.76494	0.382;0.999	B;D	0.70016	0.345;0.967	T	0.64028	-0.6503	10	0.09338	T	0.73	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	974;999	P51826;P51826-2	AFF3_HUMAN;.	S	974;999;999;974;16	ENSP00000317421:P974S;ENSP00000348793:P999S;ENSP00000386834:P999S;ENSP00000387207:P974S;ENSP00000416685:P16S	ENSP00000317421:P974S	P	-	1	0	AFF3	99551808	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.153000	0.58118	2.941000	0.99782	0.655000	0.94253	CCT	AFF3	-	pfam_TF_AF4/FMR2		0.363	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	G	NM_002285	Missense_Mutation	100185376	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	1.000	A
AFF3	3899	genome.wustl.edu	37	2	100209829	100209829	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:100209829G>T	ENST00000409236.2	-	13	2406	c.2294C>A	c.(2293-2295)tCt>tAt	p.S765Y	AFF3_ENST00000409579.1_Missense_Mutation_p.S790Y|AFF3_ENST00000317233.4_Missense_Mutation_p.S765Y|AFF3_ENST00000356421.2_Missense_Mutation_p.S790Y			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	765					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GACCCAGAGAGACCTGATCTC	0.577																																																	0													70.0	65.0	67.0					2																	100209829		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2294C>A	2.37:g.100209829G>T	ENSP00000387207:p.Ser765Tyr		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S790Y	ENST00000409236.2	37	c.2369	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444362	0.83993	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.5	5.5	0.81552	.	0.165435	0.39341	N	0.001391	D	0.82412	0.5031	M	0.78456	2.415	0.53005	D	0.999969	D;B;D	0.69078	0.997;0.283;0.993	D;B;D	0.69479	0.964;0.324;0.912	D	0.83580	0.0117	10	0.59425	D	0.04	.	19.3822	0.94542	0.0:0.0:1.0:0.0	.	918;765;790	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	Y	765;790;790;765;765;918	ENSP00000317421:S765Y;ENSP00000348793:S790Y;ENSP00000386834:S790Y;ENSP00000387207:S765Y	ENSP00000317421:S765Y	S	-	2	0	AFF3	99576261	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	8.801000	0.91905	2.596000	0.87737	0.561000	0.74099	TCT	AFF3	-	pfam_TF_AF4/FMR2		0.577	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	G	NM_002285		100209829	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	0.969	T
AGAP6	414189	genome.wustl.edu	37	10	51768631	51768631	+	Missense_Mutation	SNP	G	G	A	rs199714140	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:51768631G>A	ENST00000374056.4	+	7	1075	c.677G>A	c.(676-678)cGc>cAc	p.R226H	AGAP6_ENST00000412531.3_Missense_Mutation_p.R249H			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	226					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CGGTCCATGCGCTGGTCCAAC	0.577													.|||	17	0.00339457	0.0	0.0058	5008	,	,		17221	0.0		0.0099	False		,,,				2504	0.0031																0																																										SO:0001583	missense	414189				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.677G>A	10.37:g.51768631G>A	ENSP00000363168:p.Arg226His			Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R249H	ENST00000374056.4	37	c.746		10	.	.	.	.	.	.	.	.	.	.	.	12.93	2.086396	0.36855	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.065932	0.64402	D	0.000008	T	0.48429	0.1499	M	0.66939	2.045	0.46317	D	0.998981	P	0.46064	0.872	P	0.44732	0.459	T	0.46582	-0.9181	9	0.87932	D	0	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	249	C9IYN2	.	H	249;226	.	ENSP00000363168:R249H	R	+	2	0	AGAP6	51438637	1.000000	0.71417	0.146000	0.22360	0.148000	0.21650	6.204000	0.72143	0.132000	0.18615	0.134000	0.15878	CGC	AGAP6	-	NULL		0.577	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	AGAP6	HGNC	protein_coding		G	NM_001077665		51768631	+1	no_errors	ENST00000374056	ensembl	human	known	70_37	missense	SNP	1.000	A
AGAP11	119385	genome.wustl.edu	37	10	88760446	88760446	+	RNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:88760446A>C	ENST00000444431.1	+	0	1576				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AAGCCCTTGGACTGTGCATCG	0.388																																																	0																																												119385					10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88760446A>C			B9EIP7|D3DWE4	RNA	SNP	-	NULL	ENST00000444431.1	37	NULL		10																																																																																			AGAP11	-	-		0.388	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	AGAP11	HGNC	processed_transcript	OTTHUMT00000049193.1	A	NM_133447		88760446	+1	no_errors	ENST00000444431	ensembl	human	known	70_37	rna	SNP	0.003	C
AGBL4	84871	genome.wustl.edu	37	1	49100248	49100248	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:49100248G>A	ENST00000371839.1	-	9	984	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	AGBL4_ENST00000371838.1_Missense_Mutation_p.R290C|AGBL4_ENST00000334103.7_Missense_Mutation_p.R23C	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	290					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		AGCCAGTGACGATTCAGATCA	0.463																																																	0													84.0	85.0	85.0					1																	49100248		1971	4155	6126	SO:0001583	missense	84871			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.868C>T	1.37:g.49100248G>A	ENSP00000360905:p.Arg290Cys		B3KT26|B4DG37	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14	p.R290C	ENST00000371839.1	37	c.868	CCDS44137.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923207	0.92319	.	.	ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000334103;ENST00000371838	T;T;T	0.24908	1.83;1.83;1.83	5.6	5.6	0.85130	Peptidase M14, carboxypeptidase A (1);	0.193068	0.56097	D	0.000029	T	0.64875	0.2638	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.978;0.978;0.988;0.999;1.0	T	0.75906	-0.3152	9	.	.	.	-18.2076	17.0797	0.86595	0.0:0.0:1.0:0.0	.	105;302;23;135;290	A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57	.;.;.;.;CBPC6_HUMAN	C	290;284;23;290	ENSP00000360905:R290C;ENSP00000335516:R23C;ENSP00000360904:R290C	.	R	-	1	0	AGBL4	48872835	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.608000	0.90895	2.636000	0.89361	0.462000	0.41574	CGT	AGBL4	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.463	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4	G	NM_032785		49100248	-1	no_errors	ENST00000371839	ensembl	human	known	70_37	missense	SNP	1.000	A
AGPAT4	56895	genome.wustl.edu	37	6	161587300	161587300	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:161587300C>T	ENST00000320285.4	-	3	540	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366908.5_Missense_Mutation_p.E110K|AGPAT4_ENST00000366906.5_Missense_Mutation_p.E48K|AGPAT4_ENST00000366905.3_Missense_Mutation_p.E110K|AGPAT4_ENST00000366911.5_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	110					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCAAAGCGTTCGGACAGGCTC	0.527																																																	0													66.0	56.0	59.0					6																	161587300		2203	4300	6503	SO:0001583	missense	56895			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.328G>A	6.37:g.161587300C>T	ENSP00000314036:p.Glu110Lys		B4DSF9|Q5TEF0	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E110K	ENST00000320285.4	37	c.328	CCDS5280.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606847	0.87157	.	.	ENSG00000026652	ENST00000320285;ENST00000366908;ENST00000366906;ENST00000366905	D;D	0.91180	-2.8;-2.8	4.74	4.74	0.60224	Phospholipid/glycerol acyltransferase (2);	0.180212	0.49916	D	0.000136	D	0.92567	0.7639	M	0.87900	2.915	0.80722	D	1	D;D	0.57571	0.98;0.967	P;P	0.48795	0.59;0.536	D	0.93973	0.7251	10	0.87932	D	0	-13.2101	17.9347	0.89009	0.0:1.0:0.0:0.0	.	110;110	B4DHC0;Q9NRZ5	.;PLCD_HUMAN	K	110;110;48;110	ENSP00000314036:E110K;ENSP00000355873:E48K	ENSP00000314036:E110K	E	-	1	0	AGPAT4	161507290	1.000000	0.71417	0.610000	0.28997	0.548000	0.35241	7.500000	0.81588	2.466000	0.83321	0.650000	0.86243	GAA	AGPAT4	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase		0.527	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT4	HGNC	protein_coding	OTTHUMT00000042983.1	C	NM_020133		161587300	-1	no_errors	ENST00000320285	ensembl	human	known	70_37	missense	SNP	0.733	T
AGRN	375790	genome.wustl.edu	37	1	979321	979321	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:979321C>T	ENST00000379370.2	+	10	1967	c.1917C>T	c.(1915-1917)taC>taT	p.Y639Y		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	639	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGTCACCTACGGCAGTGCCT	0.706																																																	0													14.0	18.0	17.0					1																	979321		2189	4288	6477	SO:0001819	synonymous_variant	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1917C>T	1.37:g.979321C>T			Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA	p.Y639	ENST00000379370.2	37	c.1917	CCDS30551.1	1																																																																																			AGRN	-	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_FacI_MAC,smart_Prot_inh_Kazal		0.706	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	C	NM_198576		979321	+1	no_errors	ENST00000379370	ensembl	human	known	70_37	silent	SNP	0.300	T
AGTR1	185	genome.wustl.edu	37	3	148458860	148458860	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:148458860G>T	ENST00000497524.1	+	2	429	c.38G>T	c.(37-39)aGa>aTa	p.R13I	AGTR1_ENST00000402260.1_Missense_Mutation_p.R13I|AGTR1_ENST00000404754.2_Missense_Mutation_p.R13I|AGTR1_ENST00000349243.3_Missense_Mutation_p.R13I|AGTR1_ENST00000474935.1_Missense_Mutation_p.R13I|AGTR1_ENST00000475347.1_Missense_Mutation_p.R13I|AGTR1_ENST00000418473.2_Missense_Mutation_p.R13I|AGTR1_ENST00000542281.1_Missense_Mutation_p.R13I|AGTR1_ENST00000461609.1_Missense_Mutation_p.R13I	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	13					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGTATTAAAAGAATCCAAGAT	0.343																																																	0													71.0	72.0	71.0					3																	148458860		2203	4300	6503	SO:0001583	missense	185			M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.38G>T	3.37:g.148458860G>T	ENSP00000419422:p.Arg13Ile		Q13725|Q8TBK4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Frt_met_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor	p.R13I	ENST00000497524.1	37	c.38	CCDS3137.1	3	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727184	0.48833	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.33	5.33	0.75918	.	0.342982	0.30732	N	0.008991	T	0.44561	0.1299	L	0.27053	0.805	0.53688	D	0.999977	B	0.31519	0.327	B	0.21708	0.036	T	0.37842	-0.9688	10	0.38643	T	0.18	-17.0666	17.3758	0.87391	0.0:0.0:1.0:0.0	.	13	P30556	AGTR1_HUMAN	I	13	ENSP00000419422:R13I;ENSP00000273430:R13I;ENSP00000443186:R13I;ENSP00000398832:R13I;ENSP00000385612:R13I;ENSP00000419783:R13I;ENSP00000418084:R13I;ENSP00000418851:R13I;ENSP00000385641:R13I	ENSP00000273430:R13I	R	+	2	0	AGTR1	149941550	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.633000	0.74286	2.766000	0.95052	0.650000	0.86243	AGA	AGTR1	-	prints_ATII_AT1_rcpt		0.343	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGTR1	HGNC	protein_coding	OTTHUMT00000355807.1	G			148458860	+1	no_errors	ENST00000349243	ensembl	human	known	70_37	missense	SNP	1.000	T
ETNPPL	64850	genome.wustl.edu	37	4	109667588	109667588	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:109667588A>G	ENST00000296486.3	-	11	1424	c.1270T>C	c.(1270-1272)Ttc>Ctc	p.F424L	ETNPPL_ENST00000510706.1_Missense_Mutation_p.F384L|ETNPPL_ENST00000411864.2_Missense_Mutation_p.F418L|ETNPPL_ENST00000512646.1_Missense_Mutation_p.F366L	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	424						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TCCACCATGAACTTTGCATCT	0.438																																																	0													120.0	107.0	111.0					4																	109667588		2203	4300	6503	SO:0001583	missense	64850			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1270T>C	4.37:g.109667588A>G	ENSP00000296486:p.Phe424Leu		B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.F424L	ENST00000296486.3	37	c.1270	CCDS3682.1	4	.	.	.	.	.	.	.	.	.	.	A	3.148	-0.174770	0.06421	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.03	3.85	0.44370	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.379771	0.29814	N	0.011140	T	0.29914	0.0748	L	0.41124	1.26	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.17531	-1.0366	9	.	.	.	-4.2998	7.1921	0.25831	0.7381:0.0:0.2619:0.0	.	366;418;424	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	L	424;418;366;384	ENSP00000296486:F424L;ENSP00000392269:F418L;ENSP00000427065:F366L;ENSP00000423240:F384L	.	F	-	1	0	AGXT2L1	109887037	1.000000	0.71417	0.064000	0.19789	0.673000	0.39480	3.481000	0.53179	0.765000	0.33221	0.528000	0.53228	TTC	AGXT2L1	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.438	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGXT2L1	HGNC	protein_coding	OTTHUMT00000363508.1	A	NM_031279		109667588	-1	no_errors	ENST00000296486	ensembl	human	known	70_37	missense	SNP	0.040	G
AHNAK	79026	genome.wustl.edu	37	11	62289755	62289755	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:62289755T>C	ENST00000378024.4	-	5	12408	c.12134A>G	c.(12133-12135)gAt>gGt	p.D4045G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4045					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTGGGGCATCAATGTCCAC	0.512																																																	0													185.0	196.0	192.0					11																	62289755		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12134A>G	11.37:g.62289755T>C	ENSP00000367263:p.Asp4045Gly		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D4045G	ENST00000378024.4	37	c.12134	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	-	3.162	-0.171956	0.06421	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	4.24	3.09	0.35607	.	0.552811	0.16666	N	0.204579	T	0.07143	0.0181	L	0.54323	1.7	0.27797	N	0.942626	B	0.33612	0.419	B	0.33690	0.168	T	0.15492	-1.0435	10	0.30078	T	0.28	.	8.1641	0.31215	0.0:0.1485:0.0:0.8515	.	4045	Q09666	AHNK_HUMAN	G	4045	ENSP00000367263:D4045G	ENSP00000367263:D4045G	D	-	2	0	AHNAK	62046331	0.838000	0.29461	0.233000	0.24025	0.027000	0.11550	1.829000	0.39121	1.559000	0.49555	0.148000	0.16107	GAT	AHNAK	-	NULL		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	T	NM_024060		62289755	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	0.649	C
AHNAK2	113146	genome.wustl.edu	37	14	105412935	105412935	+	Silent	SNP	C	C	T	rs548525077	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:105412935C>T	ENST00000333244.5	-	7	8972	c.8853G>A	c.(8851-8853)ccG>ccA	p.P2951P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2951						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTTTGCTCTCGGGGCCTCGA	0.622													.|||	3	0.000599042	0.0015	0.0	5008	,	,		18819	0.0		0.0	False		,,,				2504	0.001																0													168.0	181.0	177.0					14																	105412935		2002	4175	6177	SO:0001819	synonymous_variant	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.8853G>A	14.37:g.105412935C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P2951	ENST00000333244.5	37	c.8853	CCDS45177.1	14																																																																																			AHNAK2	-	NULL		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105412935	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	silent	SNP	0.000	T
AHR	196	genome.wustl.edu	37	7	17379822	17379822	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:17379822A>G	ENST00000242057.4	+	10	3016	c.2373A>G	c.(2371-2373)gtA>gtG	p.V791V		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	791					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ACAATCCAGTACTGCCAGGCC	0.428																																																	0													56.0	58.0	57.0					7																	17379822		2176	4291	6467	SO:0001819	synonymous_variant	196			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2373A>G	7.37:g.17379822A>G			A4D130|Q13728|Q13803|Q13804	Silent	SNP	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	p.V791	ENST00000242057.4	37	c.2373	CCDS5366.1	7																																																																																			AHR	-	NULL		0.428	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHR	HGNC	protein_coding	OTTHUMT00000314620.2	A	NM_001621		17379822	+1	no_errors	ENST00000242057	ensembl	human	known	70_37	silent	SNP	0.000	G
USP34	9736	genome.wustl.edu	37	2	61413945	61413945	+	IGR	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:61413945A>G	ENST00000398571.2	-	0	11357				AHSA2_ENST00000410073.1_3'UTR|AHSA2_ENST00000357022.2_3'UTR|AHSA2_ENST00000394457.3_3'UTR|AHSA2_ENST00000489653.1_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATAAGGCATTACTTTTTGTAA	0.318																																																	0													22.0	24.0	23.0					2																	61413945		2186	4287	6473	SO:0001628	intergenic_variant	130872			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265		2.37:g.61413945A>G			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	RNA	SNP	-	NULL	ENST00000398571.2	37	NULL	CCDS42686.1	2																																																																																			AHSA2	-	-		0.318	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSA2	HGNC	protein_coding	OTTHUMT00000325650.4	A			61413945	+1	no_errors	ENST00000489653	ensembl	human	known	70_37	rna	SNP	0.974	G
AIP	9049	genome.wustl.edu	37	11	67250681	67250681	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:67250681A>C	ENST00000279146.3	+	1	170	c.52A>C	c.(52-54)Ata>Cta	p.I18L		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	18					negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)	p.I18V(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AAAACGTGTGATACAGGAAGG	0.607									Familial Isolated Pituitary Adenoma																																								1	Substitution - Missense(1)	large_intestine(1)											134.0	127.0	129.0					11																	67250681		2200	4295	6495	SO:0001583	missense	9049	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.52A>C	11.37:g.67250681A>C	ENSP00000279146:p.Ile18Leu		A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.I18L	ENST00000279146.3	37	c.52	CCDS8168.1	11	.	.	.	.	.	.	.	.	.	.	A	10.50	1.366429	0.24771	.	.	ENSG00000110711	ENST00000528641;ENST00000279146;ENST00000529797	D;D;D	0.90676	-2.71;-2.71;-2.71	5.69	1.88	0.25563	.	0.352800	0.30365	N	0.009781	T	0.71022	0.3291	N	0.04768	-0.165	0.49051	D	0.999743	B	0.06786	0.001	B	0.09377	0.004	T	0.62520	-0.6837	10	0.02654	T	1	-12.3057	3.5951	0.08003	0.5969:0.1971:0.206:0.0	.	18	O00170	AIP_HUMAN	L	18	ENSP00000434982:I18L;ENSP00000279146:I18L;ENSP00000434580:I18L	ENSP00000279146:I18L	I	+	1	0	AIP	67007257	0.958000	0.32768	1.000000	0.80357	0.575000	0.36095	0.885000	0.28227	0.989000	0.38761	-0.464000	0.05259	ATA	AIP	-	NULL		0.607	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIP	HGNC	protein_coding	OTTHUMT00000395516.1	A			67250681	+1	no_errors	ENST00000279146	ensembl	human	known	70_37	missense	SNP	1.000	C
AKAP13	11214	genome.wustl.edu	37	15	86123367	86123367	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:86123367T>C	ENST00000394518.2	+	7	2163	c.2068T>C	c.(2068-2070)Tcc>Ccc	p.S690P	AKAP13_ENST00000361243.2_Missense_Mutation_p.S690P|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	690					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTTAGCGAGTCCGAAAGCAC	0.498																																					Melanoma(94;603 1453 3280 32295 32951)												0													111.0	96.0	101.0					15																	86123367		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2068T>C	15.37:g.86123367T>C	ENSP00000378026:p.Ser690Pro		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.S690P	ENST00000394518.2	37	c.2068	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	9.940	1.217168	0.22373	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.08370	3.1;3.1	5.38	2.21	0.28008	.	.	.	.	.	T	0.02193	0.0068	N	0.01352	-0.895	0.19300	N	0.999973	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45483	-0.9258	9	0.02654	T	1	.	6.14	0.20255	0.0:0.5402:0.2891:0.1707	.	690;690	Q12802;Q12802-2	AKP13_HUMAN;.	P	690;690;689;689	ENSP00000354718:S690P;ENSP00000378026:S690P	ENSP00000354718:S690P	S	+	1	0	AKAP13	83924371	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.066000	0.11598	0.318000	0.23185	-0.119000	0.15052	TCC	AKAP13	-	NULL		0.498	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	T	NM_007200		86123367	+1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	0.001	C
AKAP3	10566	genome.wustl.edu	37	12	4736535	4736535	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:4736535C>A	ENST00000545990.2	-	5	2057	c.1533G>T	c.(1531-1533)gaG>gaT	p.E511D	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.E511D	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	511					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCTCAGGTTTCTCTGGAGGAT	0.488																																																	0													55.0	55.0	55.0					12																	4736535		2203	4300	6503	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1533G>T	12.37:g.4736535C>A	ENSP00000440994:p.Glu511Asp		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.E511D	ENST00000545990.2	37	c.1533	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640662	0.29157	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.12984	2.63;2.63	5.65	1.62	0.23740	A-kinase anchor 110kDa, C-terminal (1);	0.088147	0.49305	D	0.000151	T	0.28134	0.0694	M	0.75264	2.295	0.19945	N	0.999942	D	0.71674	0.998	D	0.70227	0.968	T	0.03034	-1.1080	10	0.59425	D	0.04	-19.1692	3.9128	0.09210	0.0:0.4945:0.1735:0.3319	.	511	O75969	AKAP3_HUMAN	D	511	ENSP00000228850:E511D;ENSP00000440994:E511D	ENSP00000228850:E511D	E	-	3	2	AKAP3	4606796	0.051000	0.20477	0.599000	0.28851	0.257000	0.26127	0.276000	0.18716	0.867000	0.35654	0.655000	0.94253	GAG	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110		0.488	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	C	NM_006422		4736535	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	missense	SNP	0.267	A
AK9	221264	genome.wustl.edu	37	6	109819063	109819063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:109819063G>A	ENST00000424296.2	-	37	5228	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1718					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTAGGGAATCGACTCTTCAGC	0.498																																																	0													150.0	140.0	144.0					6																	109819063		2203	4300	6503	SO:0001587	stop_gained	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5152C>T	6.37:g.109819063G>A	ENSP00000410186:p.Arg1718*		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Nonsense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.R1718*	ENST00000424296.2	37	c.5152	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.456642|10.456642	0.99408|0.99408	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000490722	.|.	.|.	.|.	5.55|5.55	2.51|2.51	0.30379|0.30379	.|.	0.171581|.	0.48767|.	D|.	0.000174|.	.|T	.|0.15046	.|0.0363	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.21280	.|-1.0250	.|4	.|.	.|.	.|.	.|.	6.5554|6.5554	0.22458|0.22458	0.0974:0.0:0.2943:0.6083|0.0974:0.0:0.2943:0.6083	.|.	.|.	.|.	.|.	X|L	1718|118	.|.	.|.	R|S	-|-	1|2	2|0	AKD1|AKD1	109925756|109925756	0.004000|0.004000	0.15560|0.15560	0.009000|0.009000	0.14445|0.14445	0.921000|0.921000	0.55340|0.55340	1.297000|1.297000	0.33400|0.33400	0.639000|0.639000	0.30564|0.30564	0.561000|0.561000	0.74099|0.74099	CGA|TCG	AKD1	-	NULL		0.498	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		G	NM_001145128		109819063	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	nonsense	SNP	0.000	A
AKAP7	9465	genome.wustl.edu	37	6	131481239	131481239	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:131481239A>C	ENST00000431975.2	+	3	290	c.192A>C	c.(190-192)gaA>gaC	p.E64D	AKAP7_ENST00000541650.1_Missense_Mutation_p.E63D|AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000368123.4_Missense_Mutation_p.E42D	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	64						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)	p.E42D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GAAGTCAAGAAAATGAATGGG	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											52.0	51.0	51.0					6																	131481239		2203	4296	6499	SO:0001583	missense	9465			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.192A>C	6.37:g.131481239A>C	ENSP00000405252:p.Glu64Asp		B4DUC3|Q9HCZ8	Missense_Mutation	SNP	pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase	p.E42D	ENST00000431975.2	37	c.126	CCDS5142.2	6	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383596	0.25031	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.33865	1.41;1.39;1.42	5.32	4.14	0.48551	RNA ligase/cyclic nucleotide phosphodiesterase (1);Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.352423	0.29572	N	0.011763	T	0.16642	0.0400	L	0.57536	1.79	0.27318	N	0.957121	B	0.13145	0.007	B	0.12156	0.007	T	0.15694	-1.0428	10	0.46703	T	0.11	-9.5975	9.6537	0.39912	0.8249:0.1751:0.0:0.0	.	64	Q9P0M2	AKA7G_HUMAN	D	64;63;42	ENSP00000405252:E64D;ENSP00000441048:E63D;ENSP00000357105:E42D	ENSP00000357105:E42D	E	+	3	2	AKAP7	131522932	1.000000	0.71417	0.958000	0.39756	0.242000	0.25591	2.627000	0.46469	0.950000	0.37743	0.528000	0.53228	GAA	AKAP7	-	pfam_Kinase-A_anchor_nucl_local_sig		0.328	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AKAP7	HGNC	protein_coding	OTTHUMT00000042209.2	A	NM_004842		131481239	+1	no_errors	ENST00000368123	ensembl	human	known	70_37	missense	SNP	0.993	C
AKNA	80709	genome.wustl.edu	37	9	117120224	117120224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:117120224G>A	ENST00000307564.4	-	12	2877	c.2716C>T	c.(2716-2718)Cga>Tga	p.R906*	AKNA_ENST00000374088.3_Nonsense_Mutation_p.R906*|AKNA_ENST00000374075.5_Nonsense_Mutation_p.R825*|AKNA_ENST00000223791.3_Nonsense_Mutation_p.R366*	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	906					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCACCGCCTCGGTGCAAAGGC	0.602																																																	0													55.0	54.0	55.0					9																	117120224		2203	4300	6503	SO:0001587	stop_gained	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2716C>T	9.37:g.117120224G>A	ENSP00000303769:p.Arg906*		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Nonsense_Mutation	SNP	pfam_TF_AT-hook	p.R906*	ENST00000307564.4	37	c.2716	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.707505	0.98444	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000223791;ENST00000374075	.	.	.	3.79	3.79	0.43588	.	1.145020	0.06533	N	0.741865	.	.	.	.	.	.	0.38437	D	0.946607	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9054	11.4453	0.50120	0.0:0.0:1.0:0.0	.	.	.	.	X	906;906;366;825	.	ENSP00000223791:R366X	R	-	1	2	AKNA	116160045	0.143000	0.22626	0.004000	0.12327	0.033000	0.12548	4.394000	0.59671	2.420000	0.82092	0.442000	0.29010	CGA	AKNA	-	NULL		0.602	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	G	NM_030767		117120224	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	nonsense	SNP	0.004	A
AKNAD1	254268	genome.wustl.edu	37	1	109391560	109391560	+	Nonsense_Mutation	SNP	C	C	A	rs201193242		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:109391560C>A	ENST00000370001.3	-	4	1424	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	AKNAD1_ENST00000357393.4_Nonsense_Mutation_p.E93*|AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.E386*|AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.E386*	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	386						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCAGTCTGTTCTTTCAACTTC	0.343																																																	0													88.0	93.0	91.0					1																	109391560		2203	4300	6503	SO:0001587	stop_gained	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1156G>T	1.37:g.109391560C>A	ENSP00000359018:p.Glu386*		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Nonsense_Mutation	SNP	pfam_TF_AT-hook	p.E386*	ENST00000370001.3	37	c.1156	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	C	36	5.858188	0.97036	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	.	.	.	5.45	5.45	0.79879	.	0.222920	0.39834	N	0.001258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-21.472	12.6185	0.56590	0.0:0.923:0.0:0.077	.	.	.	.	X	386;93;386;386	.	ENSP00000349968:E93X	E	-	1	0	AKNAD1	109193083	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	3.262000	0.51538	2.716000	0.92895	0.655000	0.94253	GAA	AKNAD1	-	pfam_TF_AT-hook		0.343	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	C	NM_152763		109391560	-1	no_errors	ENST00000370001	ensembl	human	known	70_37	nonsense	SNP	1.000	A
AKR1C4	1109	genome.wustl.edu	37	10	5242299	5242299	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:5242299C>A	ENST00000380448.1	+	4	493	c.240C>A	c.(238-240)ttC>ttA	p.F80L	AKR1C4_ENST00000263126.1_Missense_Mutation_p.F80L|AKR1CL1_ENST00000445191.1_Intron			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	80					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						AAGACATATTCTACACTTCAA	0.418																																																	0													170.0	130.0	144.0					10																	5242299		2203	4300	6503	SO:0001583	missense	1109			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.240C>A	10.37:g.5242299C>A	ENSP00000369814:p.Phe80Leu		Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.F80L	ENST00000380448.1	37	c.240	CCDS7064.1	10	.	.	.	.	.	.	.	.	.	.	c	17.30	3.353652	0.61293	.	.	ENSG00000198610	ENST00000380448;ENST00000263126;ENST00000397357	T;T	0.25085	1.82;1.82	3.32	0.171	0.15026	NADP-dependent oxidoreductase domain (3);	0.000000	0.56097	U	0.000022	T	0.52917	0.1764	M	0.92784	3.345	0.34919	D	0.748242	D	0.89917	1.0	D	0.85130	0.997	T	0.62877	-0.6761	10	0.87932	D	0	.	7.4775	0.27385	0.0:0.6471:0.0:0.3529	.	80	P17516	AK1C4_HUMAN	L	80	ENSP00000369814:F80L;ENSP00000263126:F80L	ENSP00000263126:F80L	F	+	3	2	AKR1C4	5232299	0.998000	0.40836	0.993000	0.49108	0.900000	0.52787	0.422000	0.21296	0.066000	0.16515	0.591000	0.81541	TTC	AKR1C4	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.418	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	HGNC	protein_coding	OTTHUMT00000046543.2	C	NM_001818		5242299	+1	no_errors	ENST00000263126	ensembl	human	known	70_37	missense	SNP	0.995	A
ALDH1A3	220	genome.wustl.edu	37	15	101447381	101447381	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:101447381A>C	ENST00000329841.5	+	11	1821	c.1289A>C	c.(1288-1290)aAa>aCa	p.K430T	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K323T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	430					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	GAAGTGATAAAAAGAGCGAAT	0.443																																																	0													142.0	125.0	131.0					15																	101447381		2203	4300	6503	SO:0001583	missense	220			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1289A>C	15.37:g.101447381A>C	ENSP00000332256:p.Lys430Thr		Q6NT64	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.K430T	ENST00000329841.5	37	c.1289	CCDS10389.1	15	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022617	0.35701	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.16196	2.36	4.27	1.89	0.25635	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.489271	0.23496	N	0.047554	T	0.16342	0.0393	L	0.28115	0.83	0.20703	N	0.999861	P;B	0.35575	0.51;0.2	P;B	0.46076	0.503;0.169	T	0.14420	-1.0473	10	0.48119	T	0.1	.	8.076	0.30716	0.7267:0.0:0.2733:0.0	.	334;430	Q7Z3A2;P47895	.;AL1A3_HUMAN	T	430;334	ENSP00000332256:K430T	ENSP00000332256:K430T	K	+	2	0	ALDH1A3	99264904	0.878000	0.30173	0.710000	0.30468	0.775000	0.43874	1.971000	0.40530	0.141000	0.18875	-0.297000	0.09499	AAA	ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.443	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2	A			101447381	+1	no_errors	ENST00000329841	ensembl	human	known	70_37	missense	SNP	0.305	C
ALKBH1	8846	genome.wustl.edu	37	14	78140375	78140375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:78140375G>T	ENST00000216489.3	-	6	965	c.950C>A	c.(949-951)tCa>tAa	p.S317*		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	317	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTCTACCATTGAATCTCTCGG	0.567																																																	0													69.0	66.0	67.0					14																	78140375		2203	4300	6503	SO:0001587	stop_gained	8846			X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.950C>A	14.37:g.78140375G>T	ENSP00000216489:p.Ser317*		Q8TAU1|Q9ULA7	Nonsense_Mutation	SNP	tigrfam_Alkb	p.S317*	ENST00000216489.3	37	c.950	CCDS32127.1	14	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826650	0.71143	.	.	ENSG00000100601	ENST00000216489	.	.	.	5.95	5.95	0.96441	.	0.417330	0.26665	N	0.023140	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3192	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	317	.	ENSP00000216489:S317X	S	-	2	0	ALKBH1	77210128	0.875000	0.30112	0.090000	0.20809	0.773000	0.43773	3.842000	0.55858	2.824000	0.97209	0.655000	0.94253	TCA	ALKBH1	-	NULL		0.567	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH1	HGNC	protein_coding	OTTHUMT00000414037.1	G	NM_006020		78140375	-1	no_errors	ENST00000216489	ensembl	human	known	70_37	nonsense	SNP	0.328	T
ALMS1	7840	genome.wustl.edu	37	2	73680465	73680465	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:73680465A>C	ENST00000264448.6	+	8	6919	c.6808A>C	c.(6808-6810)Aat>Cat	p.N2270H	ALMS1_ENST00000377715.1_Missense_Mutation_p.N2270H|ALMS1_ENST00000409009.1_Missense_Mutation_p.N2228H	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2270					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGAGGCAGAAAATATGGCACT	0.388																																																	0													69.0	67.0	68.0					2																	73680465		1849	4090	5939	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6808A>C	2.37:g.73680465A>C	ENSP00000264448:p.Asn2270His		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.N2270H	ENST00000264448.6	37	c.6808	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	A	17.51	3.406526	0.62399	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.19250	3.09;3.09;2.16	5.82	4.68	0.58851	.	0.115539	0.39615	N	0.001303	T	0.36963	0.0986	L	0.54323	1.7	0.31869	N	0.619958	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.986;0.99;0.99	T	0.45614	-0.9249	10	0.87932	D	0	.	7.7949	0.29141	0.9096:0.0:0.0904:0.0	.	2270;2228;2270	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	H	2228;2270;2270	ENSP00000386627:N2228H;ENSP00000264448:N2270H;ENSP00000366944:N2270H	ENSP00000264448:N2270H	N	+	1	0	ALMS1	73533973	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.102000	0.41796	2.222000	0.72286	0.533000	0.62120	AAT	ALMS1	-	NULL		0.388	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	A	NM_015120		73680465	+1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	1.000	C
ALPK1	80216	genome.wustl.edu	37	4	113352584	113352584	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:113352584G>T	ENST00000458497.1	+	11	2160	c.1881G>T	c.(1879-1881)gaG>gaT	p.E627D	ALPK1_ENST00000177648.9_Missense_Mutation_p.E627D|ALPK1_ENST00000504176.2_Missense_Mutation_p.E549D	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	627							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCTTGTCTGAGGAGCTAGAGA	0.483																																																	0													86.0	81.0	83.0					4																	113352584		2203	4300	6503	SO:0001583	missense	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1881G>T	4.37:g.113352584G>T	ENSP00000398048:p.Glu627Asp		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.E627D	ENST00000458497.1	37	c.1881	CCDS3697.1	4	.	.	.	.	.	.	.	.	.	.	G	3.802	-0.041442	0.07452	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02863	4.21;4.21;4.13	5.2	0.666	0.17901	.	0.391600	0.27402	N	0.019539	T	0.02193	0.0068	L	0.41824	1.3	0.09310	N	1	B;B;B	0.14012	0.009;0.005;0.005	B;B;B	0.16722	0.016;0.007;0.005	T	0.44590	-0.9318	10	0.38643	T	0.18	-12.9133	0.3856	0.00402	0.2107:0.1638:0.2624:0.3631	.	549;549;627	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	D	627;627;549	ENSP00000398048:E627D;ENSP00000177648:E627D;ENSP00000426044:E549D	ENSP00000177648:E627D	E	+	3	2	ALPK1	113572033	0.997000	0.39634	0.015000	0.15790	0.075000	0.17131	0.777000	0.26718	-0.123000	0.11745	0.655000	0.94253	GAG	ALPK1	-	NULL		0.483	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	G	NM_025144		113352584	+1	no_errors	ENST00000177648	ensembl	human	known	70_37	missense	SNP	0.014	T
ALS2CL	259173	genome.wustl.edu	37	3	46716116	46716116	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:46716116C>A	ENST00000318962.4	-	21	2452	c.2369G>T	c.(2368-2370)gGc>gTc	p.G790V	ALS2CL_ENST00000415953.1_Missense_Mutation_p.G790V|ALS2CL_ENST00000383742.3_Missense_Mutation_p.G137V	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	790					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTTGGCAATGCCCTGGCTGTA	0.567																																																	0													169.0	151.0	157.0					3																	46716116		2203	4300	6503	SO:0001583	missense	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2369G>T	3.37:g.46716116C>A	ENSP00000313670:p.Gly790Val		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.G790V	ENST00000318962.4	37	c.2369	CCDS2743.1	3	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922877	0.73213	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.28454	1.61;1.61;1.61	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000003	T	0.53012	0.1770	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46442	-0.9191	10	0.52906	T	0.07	.	17.0466	0.86505	0.0:1.0:0.0:0.0	.	790	Q60I27	AL2CL_HUMAN	V	790;790;137	ENSP00000313670:G790V;ENSP00000413223:G790V;ENSP00000373248:G137V	ENSP00000313670:G790V	G	-	2	0	ALS2CL	46691120	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	6.396000	0.73234	2.894000	0.99253	0.655000	0.94253	GGC	ALS2CL	-	NULL		0.567	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	C	NM_147129		46716116	-1	no_errors	ENST00000318962	ensembl	human	known	70_37	missense	SNP	1.000	A
ALS2CR11	151254	genome.wustl.edu	37	2	202356819	202356819	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:202356819C>A	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.K1415N	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GAAAATATTTCTTTTCTTTCT	0.289																																																	0													97.0	81.0	86.0					2																	202356819		692	1589	2281	SO:0001627	intron_variant	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+3798G>T	2.37:g.202356819C>A			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.K1415N	ENST00000286195.3	37	c.4245	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	3.895	-0.023249	0.07634	.	.	ENSG00000155754	ENST00000439140	T	0.57107	0.42	5.07	-3.82	0.04281	.	.	.	.	.	T	0.22781	0.0550	N	0.11255	0.115	0.09310	N	0.999995	B	0.14012	0.009	B	0.12156	0.007	T	0.14090	-1.0485	9	0.22109	T	0.4	.	0.0517	0.00012	0.3238:0.1787:0.2124:0.2851	.	1415	E9PGG4	.	N	1415	ENSP00000409937:K1415N	ENSP00000409937:K1415N	K	-	3	2	ALS2CR11	202065064	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.411000	0.01040	-1.178000	0.02741	-1.176000	0.01726	AAG	ALS2CR11	-	NULL		0.289	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	C	NM_152525		202356819	-1	no_errors	ENST00000439140	ensembl	human	novel	70_37	missense	SNP	0.000	A
AMTN	401138	genome.wustl.edu	37	4	71394916	71394916	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:71394916T>C	ENST00000339336.4	+	7	476	c.346T>C	c.(346-348)Tca>Cca	p.S116P	AMTN_ENST00000504451.1_Missense_Mutation_p.S115P	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	116					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TATCCTAAGCTCAGAGGAATT	0.264																																																	0													36.0	39.0	38.0					4																	71394916		2187	4275	6462	SO:0001583	missense	401138			AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.346T>C	4.37:g.71394916T>C	ENSP00000341013:p.Ser116Pro		Q0P503|Q0P506	Missense_Mutation	SNP	NULL	p.S116P	ENST00000339336.4	37	c.346	CCDS3542.1	4	.	.	.	.	.	.	.	.	.	.	T	17.91	3.503925	0.64410	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.64618	-0.11;-0.11	5.31	5.31	0.75309	.	0.000000	0.47093	D	0.000256	T	0.69052	0.3068	L	0.32530	0.975	0.34939	D	0.750133	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78250	-0.2277	10	0.87932	D	0	-22.9192	11.9392	0.52890	0.0:0.0:0.0:1.0	.	115;116	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	P	116;115	ENSP00000341013:S116P;ENSP00000422452:S115P	ENSP00000341013:S116P	S	+	1	0	AMTN	71429505	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.807000	0.55591	2.135000	0.66039	0.383000	0.25322	TCA	AMTN	-	NULL		0.264	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMTN	HGNC	protein_coding	OTTHUMT00000252157.1	T	NM_212557		71394916	+1	no_errors	ENST00000339336	ensembl	human	known	70_37	missense	SNP	1.000	C
AMY2A	279	genome.wustl.edu	37	1	104160634	104160634	+	Missense_Mutation	SNP	G	G	T	rs371720173		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:104160634G>T	ENST00000414303.2	+	2	291	c.227G>T	c.(226-228)aGa>aTa	p.R76I		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	76					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TGGTGGGAAAGATACCAACCA	0.353																																																	0													170.0	155.0	160.0					1																	104160634		2201	4279	6480	SO:0001583	missense	279			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.227G>T	1.37:g.104160634G>T	ENSP00000397582:p.Arg76Ile		B9EJG1|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R76I	ENST00000414303.2	37	c.227	CCDS783.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.0|22.0	4.230811|4.230811	0.79688|0.79688	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|D	.|0.98437	.|-4.93	3.47|3.47	3.47|3.47	0.39725|0.39725	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99080|0.99080	0.9684|0.9684	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.99285|0.99285	1.0897|1.0897	5|10	.|0.87932	.|D	.|0	.|.	15.0729|15.0729	0.72053|0.72053	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|76;76	.|B9EJG1;P04746	.|.;AMYP_HUMAN	N|I	74|76	.|ENSP00000397582:R76I	.|ENSP00000377509:R76I	K|R	+|+	3|2	2|0	AMY2A|AMY2A	103962157|103962157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	9.276000|9.276000	0.95745|0.95745	1.927000|1.927000	0.55829|0.55829	0.455000|0.455000	0.32223|0.32223	AAG|AGA	AMY2A	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase		0.353	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2A	HGNC	protein_coding	OTTHUMT00000030315.1	G	NM_000699		104160634	+1	no_errors	ENST00000414303	ensembl	human	known	70_37	missense	SNP	1.000	T
ANK3	288	genome.wustl.edu	37	10	61832013	61832013	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:61832013G>T	ENST00000280772.2	-	37	8817	c.8626C>A	c.(8626-8628)Cat>Aat	p.H2876N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2876					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTACATCATGAACAAGTACA	0.393																																																	0													83.0	86.0	85.0					10																	61832013		2203	4299	6502	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8626C>A	10.37:g.61832013G>T	ENSP00000280772:p.His2876Asn		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.H2876N	ENST00000280772.2	37	c.8626	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571758	0.65765	.	.	ENSG00000151150	ENST00000280772	T	0.62639	0.01	5.73	5.73	0.89815	.	0.000000	0.43260	D	0.000584	T	0.48295	0.1492	N	0.19112	0.55	0.80722	D	1	B	0.30482	0.281	B	0.24848	0.056	T	0.40421	-0.9564	10	0.18710	T	0.47	.	19.8881	0.96917	0.0:0.0:1.0:0.0	.	2876	Q12955	ANK3_HUMAN	N	2876	ENSP00000280772:H2876N	ENSP00000280772:H2876N	H	-	1	0	ANK3	61502019	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.140000	0.58031	2.708000	0.92522	0.555000	0.69702	CAT	ANK3	-	NULL		0.393	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	G	NM_020987		61832013	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKFY1	51479	genome.wustl.edu	37	17	4072504	4072504	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:4072504C>T	ENST00000341657.4	-	24	3400	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.R1123H|ANKFY1_ENST00000570535.1_Missense_Mutation_p.R1164H	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1122					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTGGTGTTTGCGAGTGGTGAC	0.607																																																	0													29.0	33.0	31.0					17																	4072504		2143	4167	6310	SO:0001583	missense	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3365G>A	17.37:g.4072504C>T	ENSP00000343362:p.Arg1122His		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.R1164H	ENST00000341657.4	37	c.3491		17	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043932	0.93685	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.55	5.55	0.83447	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.91102	0.7199	H	0.98849	4.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.996	D	0.94031	0.7301	9	0.56958	D	0.05	-17.0537	18.4941	0.90858	0.0:1.0:0.0:0.0	.	1064;1122;1123;1164	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	H	1123;1064	.	ENSP00000343362:R1123H	R	-	2	0	ANKFY1	4019253	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.818000	0.86416	2.611000	0.88343	0.563000	0.77884	CGC	ANKFY1	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.607	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	C	NM_016376		4072504	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKHD1	54882	genome.wustl.edu	37	5	139892498	139892498	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:139892498T>G	ENST00000360839.2	+	23	4344	c.4190T>G	c.(4189-4191)aTt>aGt	p.I1397S	ANKHD1_ENST00000297183.6_Missense_Mutation_p.I1397S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.I1397S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1397						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAGCAACAATTACAGATAAG	0.318																																																	0													110.0	114.0	113.0					5																	139892498		2202	4300	6502	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4190T>G	5.37:g.139892498T>G	ENSP00000354085:p.Ile1397Ser		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.I1397S	ENST00000360839.2	37	c.4190	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.48|18.48	3.632635|3.632635	0.67015|0.67015	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000431508;ENST00000532219|ENST00000246149	T;T;T;T;T;T|.	0.69306|.	-0.36;-0.39;-0.26;-0.29;1.42;-0.39|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.052621|.	0.64402|.	D|.	0.000001|.	T|T	0.73321|0.73321	0.3572|0.3572	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	P;P;P;B;D;P|.	0.60575|.	0.951;0.791;0.947;0.129;0.988;0.917|.	P;B;P;B;P;B|.	0.55161|.	0.593;0.392;0.77;0.027;0.676;0.446|.	T|T	0.73662|0.73662	-0.3912|-0.3912	10|5	0.66056|.	D|.	0.02|.	.|.	15.4127|15.4127	0.74941|0.74941	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1397;608;1397;1416;1397;1397|.	E9PF56;E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3|.	.;.;.;.;.;ANKH1_HUMAN|.	S|V	1397;1430;1397;1397;931;608;1416;550;53;1397|623	ENSP00000354085:I1397S;ENSP00000297183:I1397S;ENSP00000394489:I1416S;ENSP00000405602:I550S;ENSP00000393204:I53S;ENSP00000432016:I1397S|.	ENSP00000432016:I1397S|.	I|L	+|+	2|1	0|2	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139872682|139872682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.997000|7.997000	0.88414|0.88414	2.106000|2.106000	0.64143|0.64143	0.456000|0.456000	0.33151|0.33151	ATT|TTA	ANKHD1	-	NULL		0.318	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	T	NM_017747		139892498	+1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	G
ANKRD13C	81573	genome.wustl.edu	37	1	70801747	70801747	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:70801747T>G	ENST00000370944.4	-	2	779	c.466A>C	c.(466-468)Aat>Cat	p.N156H	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.N156H	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	156					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TAACCTTTATTTCCTAACATC	0.199																																																	0													4.0	4.0	4.0					1																	70801747		1674	3560	5234	SO:0001583	missense	81573				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.466A>C	1.37:g.70801747T>G	ENSP00000359982:p.Asn156His		B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N156H	ENST00000370944.4	37	c.466	CCDS648.2	1	.	.	.	.	.	.	.	.	.	.	T	1.757	-0.487770	0.04352	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.64618	-0.11;1.44	5.28	5.28	0.74379	Ankyrin repeat-containing domain (4);	0.177545	0.64402	D	0.000012	T	0.14614	0.0353	N	0.03084	-0.415	0.32226	N	0.574617	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.08493	-1.0719	10	0.07644	T	0.81	.	9.4541	0.38745	0.0:0.0:0.1784:0.8216	.	156;156	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	H	156	ENSP00000359982:N156H;ENSP00000262346:N156H	ENSP00000262346:N156H	N	-	1	0	ANKRD13C	70574335	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.313000	0.51935	1.988000	0.58038	0.379000	0.24179	AAT	ANKRD13C	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.199	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13C	HGNC	protein_coding	OTTHUMT00000025903.1	T	NM_030816		70801747	-1	no_errors	ENST00000370944	ensembl	human	known	70_37	missense	SNP	1.000	G
ANKRD18B	441459	genome.wustl.edu	37	9	33550477	33550477	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:33550477T>G	ENST00000290943.6	+	10	2027	c.1931T>G	c.(1930-1932)tTt>tGt	p.F644C		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	644										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						CTTAAAAAATTTTCAATGTCA	0.294																																																	0																																										SO:0001583	missense	441459					9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.1931T>G	9.37:g.33550477T>G	ENSP00000290943:p.Phe644Cys			Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F644C	ENST00000290943.6	37	c.1931		9	.	.	.	.	.	.	.	.	.	.	t	5.156	0.214415	0.09810	.	.	ENSG00000230453	ENST00000290943;ENST00000357927	T;T	0.27256	1.68;3.06	1.5	0.246	0.15516	.	.	.	.	.	T	0.25044	0.0608	.	.	.	0.24980	N	0.991603	.	.	.	.	.	.	T	0.33727	-0.9857	5	0.59425	D	0.04	.	4.5158	0.11934	0.4083:0.0:0.0:0.5917	.	.	.	.	C	644;25	ENSP00000290943:F644C;ENSP00000350607:F25C	ENSP00000290943:F644C	F	+	2	0	ANKRD18B	33540477	0.010000	0.17322	0.001000	0.08648	0.001000	0.01503	2.253000	0.43205	0.042000	0.15717	0.254000	0.18369	TTT	ANKRD18B	-	NULL		0.294	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	ANKRD18B	HGNC	protein_coding	OTTHUMT00000313729.2	T	XM_001718334		33550477	+1	no_errors	ENST00000290943	ensembl	human	known	70_37	missense	SNP	0.053	G
ANKRD18CP	100287922	genome.wustl.edu	37	9	99942941	99942941	+	IGR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:99942941A>C								RP11-520B13.4 (98714 upstream) : RNU6-798P (12263 downstream)																							TCAGCCTTGAATTCTCAGCTT	0.363																																																	0																																										SO:0001628	intergenic_variant	100287922																															9.37:g.99942941A>C				RNA	SNP	-	NULL		37	NULL		9																																																																																			ANKRD18CP	-	-	0	0.363					ANKRD18CP	HGNC			A			99942941	-1	no_errors	ENST00000354752	ensembl	human	known	70_37	rna	SNP	0.997	C
ANKRD20A5P	440482	genome.wustl.edu	37	18	14225642	14225642	+	IGR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:14225642A>C								RNU6-316P (34837 upstream) : RP11-757O6.1 (18981 downstream)																							aaacattaaaaaaaaaaGATA	0.368																																																	0																																										SO:0001628	intergenic_variant	440482																															18.37:g.14225642A>C				RNA	SNP	-	NULL		37	NULL		18																																																																																			ANKRD20A5P	-	-	0	0.368					ANKRD20A5P	HGNC			A			14225642	+1	no_errors	ENST00000577614	ensembl	human	known	70_37	rna	SNP	0.180	C
ANKRD20A8P	729171	genome.wustl.edu	37	2	95488761	95488761	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:95488761C>A	ENST00000432432.2	-	0	1252					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		GTGGTTGCTTCTTTTCACTTC	0.348																																																	0																																												729171					2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95488761C>A			A6NC18	RNA	SNP	-	NULL	ENST00000432432.2	37	NULL		2																																																																																			ANKRD20A8P	-	-		0.348	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	ANKRD20A8P	HGNC	pseudogene	OTTHUMT00000451404.1	C			95488761	-1	no_errors	ENST00000432432	ensembl	human	known	70_37	rna	SNP	0.004	A
ANKRD26	22852	genome.wustl.edu	37	10	27335392	27335392	+	Silent	SNP	C	C	T	rs539828112	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:27335392C>T	ENST00000376087.4	-	18	2040	c.1875G>A	c.(1873-1875)tcG>tcA	p.S625S	ANKRD26_ENST00000436985.2_Silent_p.S641S|ANKRD26_ENST00000376070.3_Silent_p.S182S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	624					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CAGATTCTTTCGAGGTCCGTT	0.403													c|||	3	0.000599042	0.0	0.0	5008	,	,		15858	0.001		0.0	False		,,,				2504	0.002																0													132.0	124.0	127.0					10																	27335392		1828	4095	5923	SO:0001819	synonymous_variant	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1875G>A	10.37:g.27335392C>T			A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S641	ENST00000376087.4	37	c.1923	CCDS41499.1	10																																																																																			ANKRD26	-	NULL		0.403	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	C			27335392	-1	no_errors	ENST00000436985	ensembl	human	known	70_37	silent	SNP	0.000	T
ANKRD30B	374860	genome.wustl.edu	37	18	14828278	14828278	+	Splice_Site	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:14828278G>T	ENST00000358984.4	+	27	2568	c.2388G>T	c.(2386-2388)gaG>gaT	p.E796D	MIR3156-2_ENST00000581101.1_RNA	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	796										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTTTAATAGAGGATGTGAGTT	0.299																																																	0													46.0	35.0	38.0					18																	14828278		692	1589	2281	SO:0001630	splice_region_variant	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2387-1G>T	18.37:g.14828278G>T			B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E796D	ENST00000358984.4	37	c.2388	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	g	1.606	-0.525337	0.04141	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.05649	3.41	2.03	2.03	0.26663	.	.	.	.	.	T	0.03564	0.0102	L	0.31926	0.97	0.19300	N	0.999978	P	0.45594	0.862	B	0.31751	0.135	T	0.35226	-0.9797	9	0.13853	T	0.58	.	7.6624	0.28410	0.0:0.0:1.0:0.0	.	796	F8WAG3	.	D	796;190;216	ENSP00000351875:E796D	ENSP00000277669:E216D	E	+	3	2	ANKRD30B	14818278	0.002000	0.14202	0.002000	0.10522	0.044000	0.14063	0.128000	0.15810	1.477000	0.48234	0.289000	0.19496	GAG	ANKRD30B	-	NULL		0.299	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	G	NM_001145029	Missense_Mutation	14828278	+1	no_errors	ENST00000358984	ensembl	human	known	70_37	missense	SNP	0.002	T
ANKRD30BL	554226	genome.wustl.edu	37	2	132914714	132914714	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:132914714C>T	ENST00000409867.1	-	3	588	c.339G>A	c.(337-339)ctG>ctA	p.L113L	ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	113										endometrium(1)|kidney(3)	4						TCTGGCATTGCAGAGCCTGTC	0.338																																																	0																																										SO:0001819	synonymous_variant	554226					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.339G>A	2.37:g.132914714C>T			B8ZZL7	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L113	ENST00000409867.1	37	c.339		2																																																																																			ANKRD30BL	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.338	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331353.2	C	NR_027019		132914714	-1	no_errors	ENST00000295181	ensembl	human	known	70_37	silent	SNP	0.998	T
ANKRD31	256006	genome.wustl.edu	37	5	74442211	74442211	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:74442211A>G	ENST00000274361.3	-	14	3216	c.3025T>C	c.(3025-3027)Tcc>Ccc	p.S1009P	ANKRD31_ENST00000506364.2_Missense_Mutation_p.S1009P|ANKRD31_ENST00000504022.1_Intron	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	1009										endometrium(1)|kidney(4)	5						CAAGCCAGGGAATTTTGCTCA	0.373																																																	0													88.0	77.0	80.0					5																	74442211		692	1591	2283	SO:0001583	missense	256006			AK097510	CCDS47233.1	5q13.3	2013-01-10			ENSG00000145700	ENSG00000145700		"""Ankyrin repeat domain containing"""	26853	protein-coding gene	gene with protein product							Standard	NM_001164443		Approved	FLJ40191	uc003kdo.2	Q8N7Z5	OTTHUMG00000162649	ENST00000274361.3:c.3025T>C	5.37:g.74442211A>G	ENSP00000274361:p.Ser1009Pro			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.S1009P	ENST00000274361.3	37	c.3025		5	.	.	.	.	.	.	.	.	.	.	A	8.461	0.855291	0.17106	.	.	ENSG00000145700	ENST00000274361	T	0.65364	-0.15	4.94	2.24	0.28232	.	.	.	.	.	T	0.43700	0.1259	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.29088	-1.0023	7	0.27082	T	0.32	.	5.1249	0.14878	0.7147:0.0:0.2853:0.0	.	.	.	.	P	1009	ENSP00000274361:S1009P	ENSP00000274361:S1009P	S	-	1	0	ANKRD31	74477967	0.019000	0.18553	0.024000	0.17045	0.106000	0.19336	1.546000	0.36179	0.836000	0.34901	0.378000	0.23410	TCC	ANKRD31	-	superfamily_Ankyrin_rpt-contain_dom		0.373	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	ANKRD31	HGNC	protein_coding		A	NM_001164443		74442211	-1	no_errors	ENST00000274361	ensembl	human	known	70_37	missense	SNP	0.044	G
ANKRD34B	340120	genome.wustl.edu	37	5	79854475	79854475	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:79854475T>C	ENST00000338682.3	-	5	2036	c.1364A>G	c.(1363-1365)aAt>aGt	p.N455S		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	455						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AGGGTGAGAATTTACATTTAA	0.423																																																	0													156.0	161.0	159.0					5																	79854475		2203	4300	6503	SO:0001583	missense	340120				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1364A>G	5.37:g.79854475T>C	ENSP00000339802:p.Asn455Ser		B2RPH1|Q68D79	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N455S	ENST00000338682.3	37	c.1364	CCDS34194.1	5	.	.	.	.	.	.	.	.	.	.	T	8.652	0.898407	0.17686	.	.	ENSG00000189127	ENST00000338682	T	0.22539	1.95	6.04	-1.68	0.08212	.	0.193731	0.33364	N	0.004983	T	0.12475	0.0303	L	0.37630	1.12	0.43766	D	0.99628	B	0.13145	0.007	B	0.09377	0.004	T	0.13953	-1.0490	10	0.25751	T	0.34	-7.9713	7.4964	0.27492	0.0:0.4206:0.1381:0.4413	.	455	A5PLL1	AN34B_HUMAN	S	455	ENSP00000339802:N455S	ENSP00000339802:N455S	N	-	2	0	ANKRD34B	79890231	0.999000	0.42202	0.026000	0.17262	0.781000	0.44180	1.842000	0.39250	-0.262000	0.09392	-0.371000	0.07208	AAT	ANKRD34B	-	NULL		0.423	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34B	HGNC	protein_coding	OTTHUMT00000369475.1	T	NM_001004441		79854475	-1	no_errors	ENST00000338682	ensembl	human	known	70_37	missense	SNP	0.945	C
ANKRD36BP2	645784	genome.wustl.edu	37	2	89103871	89103871	+	RNA	DEL	T	T	-			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:89103871delT	ENST00000393525.3	+	0	4345									ankyrin repeat domain 36B pseudogene 2																		ctaaatGTAATTTTTTTTAAT	0.269																																																	0																																												645784					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89103871delT				RNA	DEL	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			ANKRD36BP2	-	-		0.269	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1	T			89103871	+1	no_errors	ENST00000393525	ensembl	human	known	70_37	rna	DEL	0.032	-
ANKRD36C	400986	genome.wustl.edu	37	2	96525724	96525724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:96525724G>A	ENST00000456556.1	-	61	3865	c.3781C>T	c.(3781-3783)Cga>Tga	p.R1261*	ANKRD36C_ENST00000419039.2_Nonsense_Mutation_p.R288*|ANKRD36C_ENST00000420871.2_Nonsense_Mutation_p.R512*			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1261							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCAGTTTTCGAATTTTTACT	0.279																																																	0																																										SO:0001587	stop_gained	400986			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3781C>T	2.37:g.96525724G>A	ENSP00000403302:p.Arg1261*		C9JZ08|Q15694|Q53S06|Q658V2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R1261*	ENST00000456556.1	37	c.3781		2	.	.	.	.	.	.	.	.	.	.	g	50	16.146836	0.99855	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	.	.	.	1.85	0.66	0.17868	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	6.0718	0.19893	0.0:0.0:0.2837:0.7163	.	.	.	.	X	512;1261;288	.	ENSP00000407838:R288X	R	-	1	2	AC073995.2	95889451	1.000000	0.71417	0.656000	0.29637	0.019000	0.09904	2.556000	0.45862	0.182000	0.20032	0.297000	0.19635	CGA	ANKRD36C	-	NULL		0.279	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	G	NM_001010914		96525724	-1	no_errors	ENST00000456556	ensembl	human	known	70_37	nonsense	SNP	0.998	A
ANKRD36C	400986	genome.wustl.edu	37	2	96583646	96583646	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:96583646C>T	ENST00000456556.1	-	36	2388	c.2304G>A	c.(2302-2304)tcG>tcA	p.S768S	ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	768							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TGGCTATAATCGAAACAGAAT	0.318																																																	0																																										SO:0001819	synonymous_variant	400986			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.2304G>A	2.37:g.96583646C>T			C9JZ08|Q15694|Q53S06|Q658V2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S768	ENST00000456556.1	37	c.2304		2																																																																																			ANKRD36C	-	NULL		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	C	NM_001010914		96583646	-1	no_errors	ENST00000456556	ensembl	human	known	70_37	silent	SNP	0.001	T
ANKRD36C	400986	genome.wustl.edu	37	2	96652917	96652917	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:96652917C>T	ENST00000456556.1	-	2	319	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K				Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	79							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TGTACCATTTCCGGTTGGCCA	0.453																																																	0																																										SO:0001583	missense	400986			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.235G>A	2.37:g.96652917C>T	ENSP00000403302:p.Glu79Lys		C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E79K	ENST00000456556.1	37	c.235		2	.	.	.	.	.	.	.	.	.	.	c	16.67	3.187769	0.57909	.	.	ENSG00000174501	ENST00000456556	T	0.64803	-0.12	1.58	1.58	0.23477	.	0.948053	0.08701	N	0.906361	T	0.67249	0.2873	M	0.75777	2.31	0.18873	N	0.999986	.	.	.	.	.	.	T	0.58847	-0.7564	8	0.54805	T	0.06	.	6.5857	0.22620	0.0:1.0:0.0:0.0	.	.	.	.	K	79	ENSP00000403302:E79K	ENSP00000403302:E79K	E	-	1	0	AC073995.2	96016644	0.003000	0.15002	0.051000	0.19133	0.088000	0.18126	1.401000	0.34589	1.188000	0.43014	0.195000	0.17529	GAA	ANKRD36C	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.453	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	C	NM_001010914		96652917	-1	no_errors	ENST00000456556	ensembl	human	known	70_37	missense	SNP	0.466	T
ANO5	203859	genome.wustl.edu	37	11	22294416	22294416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:22294416C>T	ENST00000324559.8	+	19	2433	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	706					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTAGAGATTCGAGTGGATGC	0.388																																																	0													139.0	127.0	131.0					11																	22294416		2203	4300	6503	SO:0001587	stop_gained	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2116C>T	11.37:g.22294416C>T	ENSP00000315371:p.Arg706*			Nonsense_Mutation	SNP	pfam_Anoctamin	p.R706*	ENST00000324559.8	37	c.2116	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	c	43	10.116441	0.99339	.	.	ENSG00000171714	ENST00000324559	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7169	0.69275	0.1449:0.8551:0.0:0.0	.	.	.	.	X	706	.	ENSP00000315371:R706X	R	+	1	2	ANO5	22250992	0.996000	0.38824	0.996000	0.52242	0.995000	0.86356	3.387000	0.52501	2.776000	0.95493	0.651000	0.88453	CGA	ANO5	-	pfam_Anoctamin		0.388	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	C	NM_213599		22294416	+1	no_errors	ENST00000324559	ensembl	human	known	70_37	nonsense	SNP	0.989	T
ANO1	55107	genome.wustl.edu	37	11	69962588	69962588	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:69962588G>A	ENST00000355303.5	+	8	1185	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ANO1_ENST00000531349.1_Missense_Mutation_p.E29K|ANO1_ENST00000538023.1_Missense_Mutation_p.E294K|ANO1_ENST00000530676.1_Missense_Mutation_p.E178K|ANO1_ENST00000398543.2_Missense_Mutation_p.E178K|ANO1_ENST00000316296.5_Missense_Mutation_p.E266K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	294					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TGAAAACGTCGAGTTCAACGA	0.522																																																	0													56.0	54.0	54.0					11																	69962588		1965	4131	6096	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.880G>A	11.37:g.69962588G>A	ENSP00000347454:p.Glu294Lys		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.E294K	ENST00000355303.5	37	c.880	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	G	8.436	0.849677	0.17034	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.22	4.43	4.43	0.53597	.	0.327734	0.28754	N	0.014258	T	0.53384	0.1793	L	0.39898	1.24	0.48395	D	0.999644	B;P;B	0.43578	0.033;0.811;0.355	B;B;B	0.34138	0.007;0.176;0.064	T	0.56517	-0.7966	9	.	.	.	.	14.5754	0.68243	0.0:0.0:1.0:0.0	.	29;266;294	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	K	294;294;178;78;266;178;29	ENSP00000347454:E294K;ENSP00000444689:E294K;ENSP00000381551:E178K;ENSP00000319477:E266K;ENSP00000435797:E178K;ENSP00000432843:E29K	.	E	+	1	0	ANO1	69640236	1.000000	0.71417	0.635000	0.29338	0.054000	0.15201	5.659000	0.68010	2.178000	0.69098	0.462000	0.41574	GAG	ANO1	-	NULL		0.522	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	G	NM_018043		69962588	+1	no_errors	ENST00000355303	ensembl	human	known	70_37	missense	SNP	0.988	A
ANO8	57719	genome.wustl.edu	37	19	17441687	17441687	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:17441687T>C	ENST00000159087.4	-	8	1101	c.943A>G	c.(943-945)Acg>Gcg	p.T315A		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	315					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GAGTCCAGCGTCCCCCACTTA	0.587																																																	0													132.0	126.0	128.0					19																	17441687		2203	4300	6503	SO:0001583	missense	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.943A>G	19.37:g.17441687T>C	ENSP00000159087:p.Thr315Ala		A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.T315A	ENST00000159087.4	37	c.943	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	t	23.5	4.427350	0.83667	.	.	ENSG00000074855	ENST00000159087	T	0.66460	-0.21	4.59	4.59	0.56863	.	0.224854	0.42294	D	0.000731	T	0.80132	0.4567	M	0.77103	2.36	0.46798	D	0.999204	D	0.76494	0.999	D	0.80764	0.994	T	0.81252	-0.1017	10	0.49607	T	0.09	.	11.8981	0.52667	0.0:0.0:0.0:1.0	.	315	Q9HCE9	ANO8_HUMAN	A	315	ENSP00000159087:T315A	ENSP00000159087:T315A	T	-	1	0	ANO8	17302687	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.922000	0.87538	1.711000	0.51337	0.255000	0.18592	ACG	ANO8	-	pfam_Anoctamin		0.587	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	T	XM_050644		17441687	-1	no_errors	ENST00000159087	ensembl	human	known	70_37	missense	SNP	1.000	C
ANXA13	312	genome.wustl.edu	37	8	124707747	124707747	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:124707747G>A	ENST00000419625.1	-	6	538	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	ANXA13_ENST00000262219.6_Silent_p.L197L	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	156					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTACCTGCAGCAGAGACACC	0.408																																																	0													138.0	135.0	136.0					8																	124707747		2203	4300	6503	SO:0001819	synonymous_variant	312			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.466C>T	8.37:g.124707747G>A			Q9BQR5	Silent	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII	p.L197	ENST00000419625.1	37	c.589	CCDS47917.1	8																																																																																			ANXA13	-	superfamily_Annexin		0.408	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA13	HGNC	protein_coding	OTTHUMT00000381308.1	G	NM_004306		124707747	-1	no_errors	ENST00000262219	ensembl	human	known	70_37	silent	SNP	0.994	A
AOC4P	90586	genome.wustl.edu	37	17	41019795	41019795	+	RNA	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:41019795G>A	ENST00000585538.1	+	0	634					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		CCCTATCACCGACGCCCCATG	0.597																																																	0																																												90586					17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41019795G>A				RNA	SNP	-	NULL	ENST00000585538.1	37	NULL		17																																																																																			AOC4	-	-		0.597	AOC4P-006	KNOWN	basic	processed_transcript	AOC4	Clone_based_vega_gene	pseudogene	OTTHUMT00000452449.1	G			41019795	+1	no_errors	ENST00000562301	ensembl	human	known	70_37	rna	SNP	0.427	A
AOX1	316	genome.wustl.edu	37	2	201485959	201485959	+	Missense_Mutation	SNP	C	C	T	rs146370823		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:201485959C>T	ENST00000374700.2	+	18	2232	c.1991C>T	c.(1990-1992)gCg>gTg	p.A664V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	664					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAATTTCTGGCGACAGATAAG	0.403													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18544	0.0		0.0	False		,,,				2504	0.0																0								C	VAL/ALA	0,4406		0,0,2203	140.0	135.0	137.0		1991	-0.5	0.0	2	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	missense	AOX1	NM_001159.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	664/1339	201485959	1,13005	2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1991C>T	2.37:g.201485959C>T	ENSP00000363832:p.Ala664Val		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.A664V	ENST00000374700.2	37	c.1991	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	13.34	2.206491	0.39003	0.0	1.16E-4	ENSG00000138356	ENST00000374700	T	0.22945	1.93	5.49	-0.516	0.11950	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.598136	0.17812	N	0.161182	T	0.26919	0.0659	M	0.80508	2.5	0.40610	D	0.981669	P	0.34977	0.478	B	0.37780	0.258	T	0.04961	-1.0915	10	0.46703	T	0.11	-13.7543	3.4468	0.07483	0.1938:0.5594:0.1025:0.1443	.	664	Q06278	ADO_HUMAN	V	664	ENSP00000363832:A664V	ENSP00000363832:A664V	A	+	2	0	AOX1	201194204	0.384000	0.25164	0.011000	0.14972	0.050000	0.14768	0.788000	0.26872	-0.334000	0.08463	-0.128000	0.14901	GCG	AOX1	-	pfam_Ald_Oxase/Xan_DH_a/b,superfamily_Ald_Oxase/Xan_DH_a/b,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase		0.403	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	C	NM_001159		201485959	+1	no_errors	ENST00000374700	ensembl	human	known	70_37	missense	SNP	0.240	T
AP1M1	8907	genome.wustl.edu	37	19	16314297	16314297	+	Missense_Mutation	SNP	G	G	A	rs200460904		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:16314297G>A	ENST00000291439.3	+	2	519	c.70G>A	c.(70-72)Gac>Aac	p.D24N	AP1M1_ENST00000429941.2_Missense_Mutation_p.D24N|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.D24N|AP1M1_ENST00000590756.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	24					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)		p.D24N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CTACCGTGGCGACGTGGACAT	0.597																																																	1	Substitution - Missense(1)	endometrium(1)											97.0	80.0	86.0					19																	16314297		2203	4300	6503	SO:0001583	missense	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.70G>A	19.37:g.16314297G>A	ENSP00000291439:p.Asp24Asn		Q4TTY5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.D24N	ENST00000291439.3	37	c.70	CCDS12342.1	19	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352558	0.82132	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000429941	T;T;T	0.67523	0.31;0.32;-0.27	4.45	4.45	0.53987	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.73217	2.22	0.80722	D	1	B;B;B	0.33266	0.404;0.35;0.232	B;B;B	0.34301	0.179;0.127;0.127	T	0.73104	-0.4088	10	0.66056	D	0.02	-31.8085	16.0817	0.81010	0.0:0.0:1.0:0.0	.	24;24;24	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	N	24	ENSP00000388996:D24N;ENSP00000291439:D24N;ENSP00000411498:D24N	ENSP00000291439:D24N	D	+	1	0	AP1M1	16175297	1.000000	0.71417	0.927000	0.36925	0.956000	0.61745	9.520000	0.98027	2.040000	0.60383	0.561000	0.74099	GAC	AP1M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu		0.597	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	G	NM_032493		16314297	+1	no_errors	ENST00000444449	ensembl	human	known	70_37	missense	SNP	1.000	A
AP1M1	8907	genome.wustl.edu	37	19	16337342	16337342	+	Silent	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:16337342C>A	ENST00000291439.3	+	6	1106	c.657C>A	c.(655-657)ctC>ctA	p.L219L	AP1M1_ENST00000429941.2_Silent_p.L219L|AP1M1_ENST00000541844.1_Silent_p.L147L|AP1M1_ENST00000444449.2_Silent_p.L231L|AP1M1_ENST00000590756.1_Silent_p.L147L	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	219	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						ACAAGGTCCTCTTTGACAACA	0.627																																																	0													51.0	36.0	41.0					19																	16337342		2203	4298	6501	SO:0001819	synonymous_variant	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.657C>A	19.37:g.16337342C>A			Q4TTY5	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.L231	ENST00000291439.3	37	c.693	CCDS12342.1	19																																																																																			AP1M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C		0.627	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	C	NM_032493		16337342	+1	no_errors	ENST00000444449	ensembl	human	known	70_37	silent	SNP	1.000	A
AP2B1	163	genome.wustl.edu	37	17	33968959	33968959	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:33968959G>A	ENST00000262325.7	+	12	2054	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	AP2B1_ENST00000312678.8_Missense_Mutation_p.E501K|AP2B1_ENST00000592545.1_Missense_Mutation_p.E463K|AP2B1_ENST00000589344.1_Missense_Mutation_p.E501K|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.E501K|AP2B1_ENST00000538556.1_Missense_Mutation_p.E444K	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	501					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGAAACACAGGAGCTAGTCCA	0.393																																																	0													91.0	84.0	86.0					17																	33968959		2203	4300	6503	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1501G>A	17.37:g.33968959G>A	ENSP00000262325:p.Glu501Lys		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.E501K	ENST00000262325.7	37	c.1501	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691876	0.88735	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.52	5.52	0.82312	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	L	0.27053	0.805	0.80722	D	1	P;B;B;B	0.41498	0.752;0.11;0.107;0.053	B;B;B;B	0.35971	0.149;0.215;0.026;0.017	T	0.03684	-1.1013	10	0.51188	T	0.08	-8.8676	18.7923	0.91978	0.0:0.0:1.0:0.0	.	238;463;501;501	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	K	501;501;444;501;238	ENSP00000262325:E501K;ENSP00000314414:E501K;ENSP00000440563:E444K;ENSP00000437413:E501K	ENSP00000262325:E501K	E	+	1	0	AP2B1	30993072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.545000	0.98095	2.754000	0.94517	0.650000	0.86243	GAG	AP2B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.393	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	G			33968959	+1	no_errors	ENST00000312678	ensembl	human	known	70_37	missense	SNP	1.000	A
APBB1	322	genome.wustl.edu	37	11	6422892	6422892	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:6422892T>G	ENST00000609360.1	-	10	1514	c.1415A>C	c.(1414-1416)aAg>aCg	p.K472T	APBB1_ENST00000311051.3_Missense_Mutation_p.K470T|APBB1_ENST00000389906.2_Missense_Mutation_p.K472T|APBB1_ENST00000608655.1_Missense_Mutation_p.K252T|APBB1_ENST00000608704.1_Missense_Mutation_p.K213T|APBB1_ENST00000609331.1_Missense_Mutation_p.K237T|APBB1_ENST00000299402.6_Missense_Mutation_p.K470T|APBB1_ENST00000608645.1_Missense_Mutation_p.K213T|APBB1_ENST00000530885.1_Missense_Mutation_p.K250T|APBB1_ENST00000608394.1_Missense_Mutation_p.K213T|APBB1_ENST00000529519.1_5'UTR	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	472	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTGGGTCAGCTTATCACGAGC	0.602																																					GBM(147;1810 2556 5672 39622)												0													178.0	123.0	142.0					11																	6422892		2201	4296	6497	SO:0001583	missense	322			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1415A>C	11.37:g.6422892T>G	ENSP00000477213:p.Lys472Thr		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.K472T	ENST00000609360.1	37	c.1415		11	.	.	.	.	.	.	.	.	.	.	T	15.59	2.878969	0.51801	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	4.15	4.15	0.48705	.	0.067539	0.56097	D	0.000022	T	0.33000	0.0848	M	0.68593	2.085	0.53005	D	0.999967	D;B;B	0.76494	0.999;0.035;0.09	D;B;B	0.83275	0.996;0.047;0.121	T	0.04347	-1.0958	10	0.59425	D	0.04	-10.8672	11.1511	0.48460	0.0:0.0:0.0:1.0	.	75;250;470	B7Z4M4;B7Z2Y0;O00213-2	.;.;.	T	470;470;472;321;213;237;250;211	ENSP00000299402:K470T;ENSP00000311912:K470T;ENSP00000374556:K472T;ENSP00000433338:K250T;ENSP00000437114:K211T	ENSP00000299402:K470T	K	-	2	0	APBB1	6379468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.637000	0.46553	1.735000	0.51646	0.482000	0.46254	AAG	APBB1	-	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.602	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	T	NM_001164		6422892	-1	no_errors	ENST00000389906	ensembl	human	known	70_37	missense	SNP	1.000	G
APC	324	genome.wustl.edu	37	5	112177389	112177389	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:112177389A>G	ENST00000457016.1	+	16	6478	c.6098A>G	c.(6097-6099)gAc>gGc	p.D2033G	APC_ENST00000257430.4_Missense_Mutation_p.D2033G|APC_ENST00000508376.2_Missense_Mutation_p.D2033G|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2033	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|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 apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTTAGTATTGACTCTGAAGAT	0.393		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											91.0	92.0	92.0					5																	112177389		2202	4298	6500	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6098A>G	5.37:g.112177389A>G	ENSP00000413133:p.Asp2033Gly		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D2033G	ENST00000457016.1	37	c.6098	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246599	0.59103	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.91295	-2.82;-2.82;-2.82	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	L	0.40543	1.245	0.58432	D	0.999995	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.989	D	0.92153	0.5730	9	.	.	.	-21.0732	15.7465	0.77949	1.0:0.0:0.0:0.0	.	2035;2033	Q4LE70;P25054	.;APC_HUMAN	G	2033	ENSP00000413133:D2033G;ENSP00000257430:D2033G;ENSP00000427089:D2033G	.	D	+	2	0	APC	112205288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.957000	0.93082	2.103000	0.63969	0.528000	0.53228	GAC	APC	-	NULL		0.393	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	A	NM_000038		112177389	+1	no_errors	ENST00000257430	ensembl	human	known	70_37	missense	SNP	1.000	G
APC2	10297	genome.wustl.edu	37	19	1462028	1462028	+	Missense_Mutation	SNP	G	G	A	rs373536854		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:1462028G>A	ENST00000535453.1	+	13	3418	c.1705G>A	c.(1705-1707)Gcg>Acg	p.A569T	APC2_ENST00000233607.2_Missense_Mutation_p.A569T|APC2_ENST00000238483.4_Missense_Mutation_p.A295T|C19orf25_ENST00000588427.1_Intron|CTB-25B13.12_ENST00000588225.1_RNA			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		AGAGAACAAGGCGGCCATCTG	0.657																																																	0								G	THR/ALA	0,4406		0,0,2203	61.0	52.0	55.0		1705	4.6	1.0	19		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	APC2	NM_005883.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	569/2304	1462028	1,13005	2203	4300	6503	SO:0001583	missense	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1705G>A	19.37:g.1462028G>A	ENSP00000442954:p.Ala569Thr		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo	p.A569T	ENST00000535453.1	37	c.1705	CCDS12068.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.134939	0.94517	0.0	1.16E-4	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.64438	-0.1;0.78;-0.1	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.069490	0.64402	D	0.000019	T	0.71609	0.3360	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.63283	0.913;0.821	T	0.75416	-0.3325	10	0.72032	D	0.01	-34.4913	15.9544	0.79871	0.0:0.0:1.0:0.0	.	568;569	O95996-3;O95996	.;APC2_HUMAN	T	569;295;569	ENSP00000233607:A569T;ENSP00000238483:A295T;ENSP00000442954:A569T	ENSP00000233607:A569T	A	+	1	0	APC2	1413028	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.225000	0.95219	2.093000	0.63338	0.561000	0.74099	GCG	APC2	-	superfamily_ARM-type_fold,smart_Armadillo		0.657	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	APC2	HGNC	protein_coding	OTTHUMT00000449539.2	G	NM_005883		1462028	+1	no_errors	ENST00000233607	ensembl	human	known	70_37	missense	SNP	1.000	A
APH1B	83464	genome.wustl.edu	37	15	63597826	63597826	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:63597826C>A	ENST00000261879.5	+	6	690	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	APH1B_ENST00000380343.4_Missense_Mutation_p.S166Y|APH1B_ENST00000560716.1_3'UTR	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	207					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						TTCATAAGTTCTTATTATGGA	0.423																																																	0													64.0	67.0	66.0					15																	63597826		2203	4300	6503	SO:0001583	missense	83464			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.620C>A	15.37:g.63597826C>A	ENSP00000261879:p.Ser207Tyr		A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	pfam_Aph-1	p.S207Y	ENST00000261879.5	37	c.620	CCDS10184.1	15	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734308	0.30774	.	.	ENSG00000138613	ENST00000380343;ENST00000261879	T;T	0.45276	0.9;0.9	5.07	4.15	0.48705	.	0.121963	0.56097	D	0.000029	T	0.36386	0.0965	L	0.42245	1.32	0.28246	N	0.925472	P;P	0.42941	0.794;0.794	B;B	0.42282	0.382;0.382	T	0.29971	-0.9994	10	0.59425	D	0.04	-4.6969	9.2924	0.37795	0.0:0.9004:0.0:0.0996	.	166;207	Q564N3;Q8WW43	.;APH1B_HUMAN	Y	166;207	ENSP00000369700:S166Y;ENSP00000261879:S207Y	ENSP00000261879:S207Y	S	+	2	0	APH1B	61384879	0.999000	0.42202	0.086000	0.20670	0.384000	0.30261	4.508000	0.60441	1.136000	0.42199	0.455000	0.32223	TCT	APH1B	-	pfam_Aph-1		0.423	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APH1B	HGNC	protein_coding	OTTHUMT00000256337.1	C	NM_031301		63597826	+1	no_errors	ENST00000261879	ensembl	human	known	70_37	missense	SNP	0.983	A
APLP1	333	genome.wustl.edu	37	19	36365650	36365650	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:36365650G>A	ENST00000221891.4	+	10	1415	c.1223G>A	c.(1222-1224)cGt>cAt	p.R408H	APLP1_ENST00000586861.1_Missense_Mutation_p.R402H|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.R369H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	408					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)	p.R408H(1)		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)			CAGGCGGAGCGTGTCCTGTTG	0.677																																																	1	Substitution - Missense(1)	large_intestine(1)											57.0	40.0	46.0					19																	36365650		2203	4299	6502	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.1223G>A	19.37:g.36365650G>A	ENSP00000221891:p.Arg408His		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.R408H	ENST00000221891.4	37	c.1223	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011231	0.54361	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.48836	0.8;0.8	4.27	4.27	0.50696	Amyloidogenic glycoprotein, E2 domain (2);	0.153019	0.30771	N	0.008908	T	0.49508	0.1561	L	0.43923	1.385	0.44956	D	0.997978	D;B;P;P	0.67145	0.996;0.095;0.917;0.932	P;B;B;B	0.53266	0.722;0.008;0.104;0.167	T	0.38351	-0.9665	10	0.20046	T	0.44	-8.9873	14.5322	0.67934	0.0:0.0:1.0:0.0	.	402;369;408;408	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	H	369;408	ENSP00000441501:R369H;ENSP00000221891:R408H	ENSP00000221891:R408H	R	+	2	0	APLP1	41057490	1.000000	0.71417	0.942000	0.38095	0.805000	0.45488	4.841000	0.62824	2.092000	0.63282	0.555000	0.69702	CGT	APLP1	-	superfamily_Amyloid_glyco_E2_domain		0.677	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1	G	NM_001024807		36365650	+1	no_errors	ENST00000221891	ensembl	human	known	70_37	missense	SNP	0.992	A
APLP2	334	genome.wustl.edu	37	11	129980540	129980540	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:129980540A>C	ENST00000263574.5	+	3	459	c.387A>C	c.(385-387)acA>acC	p.T129T	APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Silent_p.T139T|APLP2_ENST00000338167.5_Silent_p.T129T|APLP2_ENST00000543137.1_Silent_p.T36T|APLP2_ENST00000345598.5_Silent_p.T129T|APLP2_ENST00000528499.1_Silent_p.T129T	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	129					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GCTTTGTTACACCTTTCAAGT	0.443																																																	0													153.0	130.0	138.0					11																	129980540		2201	4297	6498	SO:0001819	synonymous_variant	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.387A>C	11.37:g.129980540A>C			B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.T129	ENST00000263574.5	37	c.387	CCDS8486.1	11																																																																																			APLP2	-	pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_heparin-bd,smart_Amyloid_glyco_extra		0.443	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	HGNC	protein_coding	OTTHUMT00000386109.1	A	NM_001642		129980540	+1	no_errors	ENST00000263574	ensembl	human	known	70_37	silent	SNP	0.910	C
APOB	338	genome.wustl.edu	37	2	21232739	21232739	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:21232739A>C	ENST00000233242.1	-	26	7128	c.7001T>G	c.(7000-7002)aTc>aGc	p.I2334S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2334					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGCATTGATTTTCTCAGC	0.353																																																	0													101.0	101.0	101.0					2																	21232739		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7001T>G	2.37:g.21232739A>C	ENSP00000233242:p.Ile2334Ser		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.I2334S	ENST00000233242.1	37	c.7001	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	10.85	1.467252	0.26335	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01221	5.15	5.76	5.76	0.90799	.	0.193810	0.35772	N	0.002983	T	0.05731	0.0150	M	0.75447	2.3	0.80722	D	1	D	0.54397	0.966	P	0.52159	0.691	T	0.05699	-1.0869	10	0.87932	D	0	.	16.0668	0.80887	1.0:0.0:0.0:0.0	.	2334	P04114	APOB_HUMAN	S	2334	ENSP00000233242:I2334S	ENSP00000233242:I2334S	I	-	2	0	APOB	21086244	1.000000	0.71417	0.577000	0.28562	0.050000	0.14768	8.923000	0.92808	2.192000	0.70111	0.459000	0.35465	ATC	APOB	-	superfamily_ARM-type_fold		0.353	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	A			21232739	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.875	C
APOB	338	genome.wustl.edu	37	2	21233079	21233079	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:21233079T>G	ENST00000233242.1	-	26	6788	c.6661A>C	c.(6661-6663)Aat>Cat	p.N2221H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2221				N -> I (in Ref. 5; CAA28420). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTACTAAATTTACACGGATA	0.264																																																	0													33.0	35.0	34.0					2																	21233079		2201	4291	6492	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6661A>C	2.37:g.21233079T>G	ENSP00000233242:p.Asn2221His		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.N2221H	ENST00000233242.1	37	c.6661	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287345	0.23478	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00724	5.78	5.76	0.291	0.15732	.	0.739617	0.12766	N	0.440914	T	0.01254	0.0041	M	0.72479	2.2	0.09310	N	0.999999	B	0.12630	0.006	B	0.08055	0.003	T	0.35798	-0.9774	10	0.31617	T	0.26	.	10.6931	0.45884	0.098:0.0:0.4323:0.4697	.	2221	P04114	APOB_HUMAN	H	2221	ENSP00000233242:N2221H	ENSP00000233242:N2221H	N	-	1	0	APOB	21086584	0.015000	0.18098	0.086000	0.20670	0.785000	0.44390	2.030000	0.41108	0.426000	0.26116	0.459000	0.35465	AAT	APOB	-	superfamily_ARM-type_fold		0.264	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	T			21233079	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.000	G
APOBEC3D	140564	genome.wustl.edu	37	22	39421629	39421629	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:39421629C>T	ENST00000216099.8	+	4	965	c.558C>T	c.(556-558)ttC>ttT	p.F186F	APOBEC3D_ENST00000381568.4_Silent_p.F186F|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	186					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.F186F(1)|p.F255F(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					GGTACAAATTCGATGACAATT	0.512																																																	2	Substitution - coding silent(2)	large_intestine(2)											333.0	289.0	304.0					22																	39421629		2203	4300	6503	SO:0001819	synonymous_variant	140564			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.558C>T	22.37:g.39421629C>T			Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.F186	ENST00000216099.8	37	c.558	CCDS46709.1	22																																																																																			APOBEC3D	-	pfam_APOBEC_C,superfamily_Cytidine_deaminase-like		0.512	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3D	HGNC	protein_coding	OTTHUMT00000321232.2	C	NM_152426		39421629	+1	no_errors	ENST00000216099	ensembl	human	known	70_37	silent	SNP	0.000	T
AQP10	89872	genome.wustl.edu	37	1	154296309	154296309	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154296309G>A	ENST00000324978.3	+	5	747				AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.G245D|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10						response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGGTGCTGGCCTCCACTCA	0.582																																																	0													23.0	22.0	22.0					1																	154296309		2202	4300	6502	SO:0001627	intron_variant	89872			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.707+27G>A	1.37:g.154296309G>A			Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3	p.G245D	ENST00000324978.3	37	c.734	CCDS1065.1	1	.	.	.	.	.	.	.	.	.	.	G	5.453	0.268626	0.10349	.	.	ENSG00000143595	ENST00000484864	D	0.84298	-1.83	3.94	1.47	0.22746	.	.	.	.	.	T	0.54919	0.1888	.	.	.	0.09310	N	1	B	0.23735	0.09	B	0.20577	0.03	T	0.43653	-0.9378	8	0.33141	T	0.24	.	4.3319	0.11067	0.1925:0.0:0.223:0.5845	.	245	Q96PS8-2	.	D	245	ENSP00000420341:G245D	ENSP00000420341:G245D	G	+	2	0	AQP10	152562933	.	.	0.000000	0.03702	0.016000	0.09150	.	.	0.172000	0.19760	-0.410000	0.06199	GGC	AQP10	-	NULL		0.582	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	G	NM_080429		154296309	+1	no_errors	ENST00000484864	ensembl	human	known	70_37	missense	SNP	0.000	A
AQP2	359	genome.wustl.edu	37	12	50348075	50348075	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:50348075C>A	ENST00000199280.3	+	2	583	c.498C>A	c.(496-498)ttC>ttA	p.F166L	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	166					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CCATAGGCTTCTCTGTGGCCC	0.622																																																	0													33.0	39.0	37.0					12																	50348075		2203	4300	6503	SO:0001583	missense	359				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.498C>A	12.37:g.50348075C>A	ENSP00000199280:p.Phe166Leu		Q9UD68	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.F166L	ENST00000199280.3	37	c.498	CCDS8792.1	12	.	.	.	.	.	.	.	.	.	.	C	3.458	-0.110669	0.06924	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;D	0.84370	-1.84;-1.84	4.72	1.72	0.24424	Aquaporin-like (2);	0.336382	0.26023	N	0.026816	T	0.53690	0.1812	N	0.01235	-0.94	0.35163	D	0.770866	B	0.02656	0.0	B	0.01281	0.0	T	0.55237	-0.8172	10	0.02654	T	1	-19.533	5.8259	0.18554	0.0:0.5169:0.3015:0.1817	.	166	P41181	AQP2_HUMAN	L	166	ENSP00000199280:F166L;ENSP00000450022:F166L	ENSP00000199280:F166L	F	+	3	2	AQP2	48634342	0.993000	0.37304	0.812000	0.32479	0.825000	0.46686	0.418000	0.21230	0.499000	0.27970	0.491000	0.48974	TTC	AQP2	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP		0.622	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP2	HGNC	protein_coding	OTTHUMT00000405540.1	C	NM_000486		50348075	+1	no_errors	ENST00000199280	ensembl	human	known	70_37	missense	SNP	1.000	A
LVRN	206338	genome.wustl.edu	37	5	115350168	115350168	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:115350168C>T	ENST00000357872.4	+	16	2518	c.2394C>T	c.(2392-2394)gaC>gaT	p.D798D	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		798						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GCCTTGAAGACTGCCTTCAGC	0.353																																																	0													122.0	116.0	118.0					5																	115350168		2202	4300	6502	SO:0001819	synonymous_variant	206338																														ENST00000357872.4:c.2394C>T	5.37:g.115350168C>T			A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.D798	ENST00000357872.4	37	c.2394	CCDS4124.1	5																																																																																			AQPEP	-	NULL		0.353	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	C			115350168	+1	no_errors	ENST00000357872	ensembl	human	known	70_37	silent	SNP	1.000	T
AQR	9716	genome.wustl.edu	37	15	35176741	35176741	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:35176741G>T	ENST00000156471.5	-	26	3237	c.3012C>A	c.(3010-3012)atC>atA	p.I1004I		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1004					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GCTGCGTAAAGATTTTCTTAA	0.313																																																	0													68.0	64.0	65.0					15																	35176741		1825	4085	5910	SO:0001819	synonymous_variant	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3012C>A	15.37:g.35176741G>T			A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	NULL	p.I1004	ENST00000156471.5	37	c.3012	CCDS42013.1	15																																																																																			AQR	-	NULL		0.313	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	G	NM_014691		35176741	-1	no_errors	ENST00000156471	ensembl	human	known	70_37	silent	SNP	1.000	T
ARAP1	116985	genome.wustl.edu	37	11	72408650	72408650	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:72408650G>A	ENST00000393609.3	-	20	2984	c.2782C>T	c.(2782-2784)Cga>Tga	p.R928*	ARAP1_ENST00000426523.1_Nonsense_Mutation_p.R683*|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.R928*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.R622*|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Nonsense_Mutation_p.R928*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.R683*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.R688*	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	928					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACCTCCTTCGCTCCACCAGC	0.637																																					Ovarian(102;1198 1520 13195 17913 37529)												0													105.0	93.0	97.0					11																	72408650		2200	4293	6493	SO:0001587	stop_gained	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2782C>T	11.37:g.72408650G>A	ENSP00000377233:p.Arg928*		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.R928*	ENST00000393609.3	37	c.2782	CCDS41687.1	11	.	.	.	.	.	.	.	.	.	.	G	45	11.951432	0.99621	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383	.	.	.	4.93	2.89	0.33648	.	0.123108	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	13.0747	0.59081	0.0:0.0:0.6443:0.3557	.	.	.	.	X	928;928;688;683;928;683;622;216;216	.	ENSP00000335506:R683X	R	-	1	2	ARAP1	72086298	0.423000	0.25482	1.000000	0.80357	0.946000	0.59487	0.691000	0.25467	1.166000	0.42689	0.563000	0.77884	CGA	ARAP1	-	smart_Pleckstrin_homology		0.637	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	G	NM_001040118		72408650	-1	no_errors	ENST00000393609	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ARAP2	116984	genome.wustl.edu	37	4	36212106	36212106	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:36212106C>T	ENST00000303965.4	-	6	1882	c.1393G>A	c.(1393-1395)Gtt>Att	p.V465I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	465					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGTGAAGAAACGGCTGATGAA	0.428																																																	0													124.0	124.0	124.0					4																	36212106		2203	4300	6503	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1393G>A	4.37:g.36212106C>T	ENSP00000302895:p.Val465Ile		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.V465I	ENST00000303965.4	37	c.1393	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.687724	0.00738	.	.	ENSG00000047365	ENST00000303965	T	0.12672	2.66	5.51	-10.5	0.00291	.	1.834890	0.02306	N	0.071660	T	0.03915	0.0110	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32640	-0.9899	10	0.17369	T	0.5	.	6.4111	0.21692	0.2155:0.3599:0.0:0.4245	.	395;465	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	I	465	ENSP00000302895:V465I	ENSP00000302895:V465I	V	-	1	0	ARAP2	35888501	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.443000	0.01013	-1.248000	0.02503	-1.419000	0.01111	GTT	ARAP2	-	NULL		0.428	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	C	NM_015230		36212106	-1	no_errors	ENST00000303965	ensembl	human	known	70_37	missense	SNP	0.000	T
ARCN1	372	genome.wustl.edu	37	11	118473592	118473592	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:118473592T>G	ENST00000264028.4	+	0	3794				ARCN1_ENST00000534182.2_3'UTR|ARCN1_ENST00000359415.4_3'UTR	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AACATTCCAGTGTATACAAAG	0.294																																																	0																																										SO:0001624	3_prime_UTR_variant	372			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.*2163T>G	11.37:g.118473592T>G			B4E1X2|E9PEU4|Q52M80	RNA	SNP	-	NULL	ENST00000264028.4	37	NULL	CCDS8400.1	11																																																																																			ARCN1	-	-		0.294	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1	T			118473592	+1	no_errors	ENST00000533452	ensembl	human	known	70_37	rna	SNP	1.000	G
ARHGAP11A	9824	genome.wustl.edu	37	15	32929146	32929146	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:32929146G>T	ENST00000361627.3	+	12	2894	c.2172G>T	c.(2170-2172)aaG>aaT	p.K724N	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.K535N|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.K535N	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	724					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AAGAAATAAAGAAACAGCAGT	0.338																																					Colon(45;757 1134 30003 36652)												0													27.0	30.0	29.0					15																	32929146		2201	4292	6493	SO:0001583	missense	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2172G>T	15.37:g.32929146G>T	ENSP00000355090:p.Lys724Asn		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K724N	ENST00000361627.3	37	c.2172	CCDS10028.1	15	.	.	.	.	.	.	.	.	.	.	.	1.469	-0.560383	0.03939	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.09630	2.96	5.01	1.65	0.23941	.	0.774053	0.11887	N	0.519987	T	0.07908	0.0198	L	0.39633	1.23	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.40924	-0.9537	10	0.17832	T	0.49	.	5.7493	0.18138	0.2586:0.0:0.5967:0.1447	.	724	Q6P4F7	RHGBA_HUMAN	N	724;535	ENSP00000355090:K724N	ENSP00000355090:K724N	K	+	3	2	ARHGAP11A	30716438	0.000000	0.05858	0.001000	0.08648	0.538000	0.34931	0.301000	0.19174	0.599000	0.29845	0.650000	0.86243	AAG	ARHGAP11A	-	NULL		0.338	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11A	HGNC	protein_coding	OTTHUMT00000251417.1	G	NM_014783		32929146	+1	no_errors	ENST00000361627	ensembl	human	known	70_37	missense	SNP	0.003	T
ARHGAP20	57569	genome.wustl.edu	37	11	110451001	110451001	+	Missense_Mutation	SNP	G	G	T	rs371299206		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:110451001G>T	ENST00000260283.4	-	16	2953	c.2669C>A	c.(2668-2670)tCt>tAt	p.S890Y	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S433Y|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S854Y|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S864Y|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S854Y|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S867Y|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S864Y	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	890					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CATTTGCAAAGACTTATGCCG	0.433																																																	0													158.0	156.0	156.0					11																	110451001		2201	4298	6499	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2669C>A	11.37:g.110451001G>T	ENSP00000260283:p.Ser890Tyr		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.S890Y	ENST00000260283.4	37	c.2669	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072231	0.55646	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.10477	2.87;2.87;2.91;2.87;2.88;2.87;2.88	5.67	4.75	0.60458	.	0.380726	0.24544	N	0.037616	T	0.29914	0.0748	M	0.65975	2.015	0.27792	N	0.942789	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.996	T	0.07158	-1.0787	10	0.87932	D	0	.	11.6644	0.51366	0.0:0.1341:0.7263:0.1396	.	864;890;867	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	Y	890;864;433;867;854;864;854	ENSP00000260283:S890Y;ENSP00000349660:S864Y;ENSP00000437905:S433Y;ENSP00000432076:S867Y;ENSP00000436319:S854Y;ENSP00000436522:S864Y;ENSP00000431399:S854Y	ENSP00000260283:S890Y	S	-	2	0	ARHGAP20	109956211	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.398000	0.52579	1.392000	0.46585	-0.165000	0.13383	TCT	ARHGAP20	-	NULL		0.433	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	G	NM_020809		110451001	-1	no_errors	ENST00000260283	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP25	9938	genome.wustl.edu	37	2	69040466	69040466	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:69040466G>A	ENST00000295381.3	+	6	1138	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R241Q|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R233Q|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R201Q|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R215Q|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R234Q|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R234Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	240	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTCTACCTCCGAGACCTCCCA	0.507																																																	0													99.0	91.0	94.0					2																	69040466		2203	4300	6503	SO:0001583	missense	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.719G>A	2.37:g.69040466G>A	ENSP00000295381:p.Arg240Gln		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R241Q	ENST00000295381.3	37	c.722		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.018581|6.018581	0.97205|0.97205	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000497259|ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	.|T;T;T;T;T;T;T	.|0.27402	.|1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68933|0.68933	0.3055|0.3055	H|H	0.95712|0.95712	3.71|3.71	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.987;1.0;1.0;1.0;1.0;0.998	.|D;P;D;D;D;D;D	.|0.97110	.|1.0;0.894;0.999;0.999;0.999;0.996;0.968	T|T	0.76572|0.76572	-0.2910|-0.2910	5|10	.|0.49607	.|T	.|0.09	.|.	18.4629|18.4629	0.90746|0.90746	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|201;215;241;234;233;234;240	.|E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.|.;.;.;.;.;.;RHG25_HUMAN	K|Q	100|215;240;241;201;233;234;234;234;225	.|ENSP00000439917:R215Q;ENSP00000295381:R240Q;ENSP00000386911:R241Q;ENSP00000420583:R201Q;ENSP00000386863:R233Q;ENSP00000386241:R234Q;ENSP00000417139:R234Q	.|ENSP00000295381:R240Q	E|R	+|+	1|2	0|0	ARHGAP25|ARHGAP25	68893970|68893970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.869000|9.869000	0.99810|0.99810	2.708000|2.708000	0.92522|0.92522	0.655000|0.655000	0.94253|0.94253	GAG|CGA	ARHGAP25	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.507	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP25	HGNC	protein_coding		G	NM_014882		69040466	+1	no_errors	ENST00000409202	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGAP31	57514	genome.wustl.edu	37	3	119120696	119120696	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:119120696G>A	ENST00000264245.4	+	10	1629	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	366					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.R366Q(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AATTTCAATCGAACAGTTACC	0.512																																					Pancreas(7;176 297 5394 51128 51241)												1	Substitution - Missense(1)	large_intestine(1)											29.0	32.0	31.0					3																	119120696		1923	4132	6055	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1097G>A	3.37:g.119120696G>A	ENSP00000264245:p.Arg366Gln		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R366Q	ENST00000264245.4	37	c.1097	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288097	0.80803	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.09255	3.0	5.48	5.48	0.80851	.	0.212247	0.32785	N	0.005649	T	0.17023	0.0409	M	0.64997	1.995	0.40145	D	0.97688	D	0.53745	0.962	B	0.42319	0.383	T	0.01188	-1.1424	10	0.87932	D	0	.	18.5258	0.90971	0.0:0.0:1.0:0.0	.	366	Q2M1Z3	RHG31_HUMAN	Q	366	ENSP00000264245:R366Q	ENSP00000264245:R366Q	R	+	2	0	ARHGAP31	120603386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.895000	0.48648	2.850000	0.98022	0.655000	0.94253	CGA	ARHGAP31	-	NULL		0.512	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	G			119120696	+1	no_errors	ENST00000264245	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGAP32	9743	genome.wustl.edu	37	11	128936741	128936741	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:128936741C>A	ENST00000310343.9	-	6	511	c.512G>T	c.(511-513)aGa>aTa	p.R171I	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R97I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	171	PX; atypical.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTCATAACTTCTTTTAACAAT	0.353																																																	0													57.0	54.0	55.0					11																	128936741		1566	3578	5144	SO:0001583	missense	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.512G>T	11.37:g.128936741C>A	ENSP00000310561:p.Arg171Ile		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R171I	ENST00000310343.9	37	c.512	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948258	0.92593	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000525234	T;T;T	0.62788	-0.0;-0.0;-0.0	5.04	5.04	0.67666	Phox homologous domain (3);	.	.	.	.	T	0.81592	0.4855	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.959	D	0.84616	0.0681	9	0.87932	D	0	.	17.3125	0.87213	0.0:1.0:0.0:0.0	.	105;171	Q86T64;A7KAX9	.;RHG32_HUMAN	I	171;97;105;145	ENSP00000310561:R171I;ENSP00000432468:R97I;ENSP00000432303:R145I	ENSP00000310561:R171I	R	-	2	0	ARHGAP32	128441951	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.148000	0.77389	2.627000	0.88993	0.557000	0.71058	AGA	ARHGAP32	-	pfam_Phox,superfamily_Phox		0.353	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	C	NM_014715		128936741	-1	no_errors	ENST00000310343	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGAP6	395	genome.wustl.edu	37	X	11204524	11204524	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:11204524C>T	ENST00000337414.4	-	5	1977	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.D166N|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.D401N|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.D166N|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.D369N|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.D194N|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.D178N	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	369					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCATCAAGATCGGTGATAGAA	0.453																																																	0													124.0	114.0	118.0					X																	11204524		2203	4300	6503	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1105G>A	X.37:g.11204524C>T	ENSP00000338967:p.Asp369Asn		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D369N	ENST00000337414.4	37	c.1105	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.271033	0.95429	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.24723	1.85;1.84;1.84;1.84;1.85;1.84;1.91;1.94	5.51	5.51	0.81932	.	0.000000	0.56097	D	0.000033	T	0.46814	0.1412	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.979;1.0;1.0;1.0	D;P;D;D;D	0.79784	0.945;0.638;0.992;0.988;0.993	T	0.24476	-1.0159	10	0.37606	T	0.19	.	18.5172	0.90939	0.0:1.0:0.0:0.0	.	178;166;369;369;369	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	N	194;166;166;369;205;369;178;401	ENSP00000438135:D194N;ENSP00000370112:D166N;ENSP00000302312:D166N;ENSP00000338967:D369N;ENSP00000370093:D205N;ENSP00000370094:D369N;ENSP00000389394:D178N;ENSP00000370108:D401N	ENSP00000302312:D166N	D	-	1	0	ARHGAP6	11114445	1.000000	0.71417	0.951000	0.38953	0.939000	0.58152	7.287000	0.78681	2.315000	0.78130	0.600000	0.82982	GAT	ARHGAP6	-	NULL		0.453	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	C	NM_013427		11204524	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGEF12	23365	genome.wustl.edu	37	11	120327884	120327884	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:120327884G>A	ENST00000397843.2	+	23	2280	c.2114G>A	c.(2113-2115)cGt>cAt	p.R705H	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R686H|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R602H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	705					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R705H(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGCACACCTCGTACTCTCAAT	0.418			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	1	Substitution - Missense(1)	endometrium(1)											137.0	128.0	131.0					11																	120327884		1936	4154	6090	SO:0001583	missense	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2114G>A	11.37:g.120327884G>A	ENSP00000380942:p.Arg705His		O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R686H	ENST00000397843.2	37	c.2057	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.532721	0.96446	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68903	-0.25;-0.36;-0.24	5.97	5.97	0.96955	.	0.000000	0.45867	D	0.000324	T	0.77745	0.4176	M	0.63428	1.95	0.43222	D	0.995109	D;D;D	0.71674	0.998;0.998;0.997	P;D;P	0.65573	0.752;0.936;0.864	T	0.70389	-0.4885	10	0.13108	T	0.6	-13.4745	18.6044	0.91261	0.0:0.0:1.0:0.0	.	602;686;705	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	H	705;686;602	ENSP00000380942:R705H;ENSP00000349056:R686H;ENSP00000432984:R602H	ENSP00000349056:R686H	R	+	2	0	ARHGEF12	119833094	1.000000	0.71417	0.950000	0.38849	0.992000	0.81027	6.394000	0.73223	2.828000	0.97474	0.655000	0.94253	CGT	ARHGEF12	-	NULL		0.418	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	G	NM_015313		120327884	+1	no_errors	ENST00000356641	ensembl	human	known	70_37	missense	SNP	0.997	A
ARHGEF28	64283	genome.wustl.edu	37	5	73183492	73183492	+	Silent	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:73183492C>A	ENST00000426542.2	+	25	3395	c.3375C>A	c.(3373-3375)atC>atA	p.I1125I	ARHGEF28_ENST00000287898.5_Silent_p.I1125I|ARHGEF28_ENST00000545377.1_Silent_p.I1125I|ARHGEF28_ENST00000437974.1_Silent_p.I1125I|ARHGEF28_ENST00000512883.1_Silent_p.I89I|ARHGEF28_ENST00000296794.6_Silent_p.I1125I|ARHGEF28_ENST00000296799.4_Silent_p.I812I|ARHGEF28_ENST00000513042.2_Silent_p.I1125I			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1125	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										AGAAATACATCTTTGCAGCCG	0.294																																																	0													72.0	65.0	67.0					5																	73183492		1805	4076	5881	SO:0001819	synonymous_variant	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3375C>A	5.37:g.73183492C>A			B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.I1125	ENST00000426542.2	37	c.3375	CCDS54870.1	5																																																																																			ARHGEF28	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.294	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	C			73183492	+1	no_errors	ENST00000545377	ensembl	human	known	70_37	silent	SNP	0.998	A
ARHGEF33	100271715	genome.wustl.edu	37	2	39156914	39156914	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:39156914A>C	ENST00000536934.1	+	4	390	c.305A>C	c.(304-306)cAg>cCg	p.Q102P	ARHGEF33_ENST00000398800.4_Missense_Mutation_p.Q102P|ARHGEF33_ENST00000409978.1_Missense_Mutation_p.Q102P			A8MVX0	ARG33_HUMAN	Rho guanine nucleotide exchange factor (GEF) 33	102							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|pancreas(1)|prostate(1)	5						GAAATGCAACAGAAAATCGAG	0.393																																																	0													132.0	111.0	117.0					2																	39156914		692	1591	2283	SO:0001583	missense	100271715				CCDS46263.1, CCDS46263.2	2p22.1	2012-07-24			ENSG00000214694	ENSG00000214694		"""Rho guanine nucleotide exchange factors"""	37252	protein-coding gene	gene with protein product							Standard	NM_001145451		Approved		uc021vgd.1	A8MVX0	OTTHUMG00000153540	ENST00000536934.1:c.305A>C	2.37:g.39156914A>C	ENSP00000445586:p.Gln102Pro		J3KPX2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_Prefoldin,smart_DH-domain,pfscan_DH-domain	p.Q102P	ENST00000536934.1	37	c.305		2	.	.	.	.	.	.	.	.	.	.	A	19.39	3.818926	0.71028	.	.	ENSG00000214694	ENST00000409978;ENST00000398800;ENST00000536934	T;T;T	0.51574	0.71;0.71;0.7	5.49	4.34	0.51931	.	0.274240	0.26126	U	0.026194	T	0.47451	0.1446	L	0.27053	0.805	0.35703	D	0.815798	D	0.61080	0.989	P	0.56278	0.795	T	0.55885	-0.8070	10	0.40728	T	0.16	-7.0E-4	11.4168	0.49956	0.9294:0.0:0.0706:0.0	.	102	A8MVX0	ARG33_HUMAN	P	102	ENSP00000387020:Q102P;ENSP00000381780:Q102P;ENSP00000445586:Q102P	ENSP00000381780:Q102P	Q	+	2	0	ARHGEF33	39010418	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.380000	0.73158	0.917000	0.36895	0.459000	0.35465	CAG	ARHGEF33	-	superfamily_Prefoldin		0.393	ARHGEF33-202	KNOWN	basic	protein_coding	ARHGEF33	HGNC	protein_coding		A	NM_001145451		39156914	+1	no_errors	ENST00000398800	ensembl	human	known	70_37	missense	SNP	1.000	C
ARID1A	8289	genome.wustl.edu	37	1	27106354	27106354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:27106354C>T	ENST00000324856.7	+	20	6336	c.5965C>T	c.(5965-5967)Cga>Tga	p.R1989*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1772*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1606*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R317*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1989					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.R1989*(8)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAATACCATTCGAAGCCTGTC	0.552			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	8	Substitution - Nonsense(8)	ovary(2)|large_intestine(2)|endometrium(2)|pancreas(2)											116.0	98.0	104.0					1																	27106354		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5965C>T	1.37:g.27106354C>T	ENSP00000320485:p.Arg1989*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R1989*	ENST00000324856.7	37	c.5965	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.391795|10.391795	0.99396|0.99396	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65091	.|0.2658	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62291	.|-0.6885	.|4	0.02654|.	T|.	1|.	-1.0676|-1.0676	13.6179|13.6179	0.62120|0.62120	0.1916:0.8084:0.0:0.0|0.1916:0.8084:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1989;1772;1606;317|885	.|.	ENSP00000320485:R1989X|.	R|S	+|+	1|2	2|0	ARID1A|ARID1A	26978941|26978941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.555000|4.555000	0.60767|0.60767	2.760000|2.760000	0.94817|0.94817	0.478000|0.478000	0.44815|0.44815	CGA|TCG	ARID1A	-	pfam_DUF3518		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27106354	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27106364	27106364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:27106364C>A	ENST00000324856.7	+	20	6346	c.5975C>A	c.(5974-5976)tCa>tAa	p.S1992*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S1775*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S1609*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.S320*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1992					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S1992*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CGAAGCCTGTCATTTGTGCCA	0.552			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	urinary_tract(1)											112.0	96.0	101.0					1																	27106364		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5975C>A	1.37:g.27106364C>A	ENSP00000320485:p.Ser1992*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S1992*	ENST00000324856.7	37	c.5975	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	44	10.597515	0.99434	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8875	18.8459	0.92205	0.0:1.0:0.0:0.0	.	.	.	.	X	1992;1775;1609;320	.	ENSP00000320485:S1992X	S	+	2	0	ARID1A	26978951	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.457000	0.80775	2.760000	0.94817	0.478000	0.44815	TCA	ARID1A	-	pfam_DUF3518		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27106364	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ARID1B	57492	genome.wustl.edu	37	6	157519969	157519969	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:157519969T>G	ENST00000350026.5	+	16	4000	c.3999T>G	c.(3997-3999)taT>taG	p.Y1333*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Y1328*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Y1386*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Y1346*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1333					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCAGCAGTATCCAGGCCAAG	0.547																																																	0													23.0	26.0	25.0					6																	157519969		2203	4296	6499	SO:0001587	stop_gained	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3999T>G	6.37:g.157519969T>G	ENSP00000055163:p.Tyr1333*		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Y1386*	ENST00000350026.5	37	c.4158	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	T	42	9.812925	0.99270	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.84	-1.08	0.09936	.	0.060133	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5112	0.44864	0.0:0.5062:0.0:0.4938	.	.	.	.	X	1346;1333;1386;1328;855	.	ENSP00000275248:Y1328X	Y	+	3	2	ARID1B	157561661	0.982000	0.34865	0.990000	0.47175	0.998000	0.95712	0.130000	0.15850	-0.386000	0.07821	0.533000	0.62120	TAT	ARID1B	-	NULL		0.547	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	T	NM_020732		157519969	+1	no_errors	ENST00000367148	ensembl	human	known	70_37	nonsense	SNP	1.000	G
ARID4A	5926	genome.wustl.edu	37	14	58817869	58817869	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:58817869G>T	ENST00000355431.3	+	16	1856	c.1483G>T	c.(1483-1485)Gat>Tat	p.D495Y	ARID4A_ENST00000395168.3_Missense_Mutation_p.D495Y|ARID4A_ENST00000431317.2_Missense_Mutation_p.D495Y|ARID4A_ENST00000348476.3_Missense_Mutation_p.D495Y	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	495					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAAATTAAAAGATAATGATAC	0.328																																																	0													58.0	64.0	62.0					14																	58817869		2202	4281	6483	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1483G>T	14.37:g.58817869G>T	ENSP00000347602:p.Asp495Tyr		Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.D495Y	ENST00000355431.3	37	c.1483	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055973	0.36277	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.44482	0.92;2.4;2.41;2.4;2.39	5.62	4.72	0.59763	.	0.641504	0.16629	N	0.206142	T	0.39937	0.1097	N	0.24115	0.695	0.42742	D	0.993741	P;B;P	0.48016	0.904;0.198;0.755	P;B;B	0.47251	0.542;0.224;0.444	T	0.40232	-0.9574	10	0.66056	D	0.02	-3.9104	16.4509	0.83990	0.0:0.1313:0.8687:0.0	.	495;495;495	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	Y	495;495;495;495;173	ENSP00000347602:D495Y;ENSP00000344556:D495Y;ENSP00000378597:D495Y;ENSP00000397368:D495Y;ENSP00000416053:D173Y	ENSP00000344556:D495Y	D	+	1	0	ARID4A	57887622	1.000000	0.71417	0.897000	0.35233	0.972000	0.66771	4.019000	0.57181	1.340000	0.45581	0.655000	0.94253	GAT	ARID4A	-	NULL		0.328	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	G	NM_023001		58817869	+1	no_errors	ENST00000355431	ensembl	human	known	70_37	missense	SNP	0.999	T
ARL5B	221079	genome.wustl.edu	37	10	18961608	18961608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:18961608G>T	ENST00000377275.3	+	4	546	c.313G>T	c.(313-315)Gaa>Taa	p.E105*		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	105					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						TACAAAAGAAGAATTATACAG	0.313																																																	0													91.0	99.0	96.0					10																	18961608		2203	4294	6497	SO:0001587	stop_gained	221079			AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	23052	protein-coding gene	gene with protein product		608909	"""ADP-ribosylation factor-like 8"""	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.313G>T	10.37:g.18961608G>T	ENSP00000366487:p.Glu105*			Nonsense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E105*	ENST00000377275.3	37	c.313	CCDS7131.1	10	.	.	.	.	.	.	.	.	.	.	G	38	7.149272	0.98096	.	.	ENSG00000165997	ENST00000377275	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.6377	20.2927	0.98543	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000366487:E105X	E	+	1	0	ARL5B	19001614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.403000	0.97302	2.809000	0.96659	0.579000	0.79373	GAA	ARL5B	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,tigrfam_Small_GTP-bd_dom		0.313	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL5B	HGNC	protein_coding	OTTHUMT00000047078.1	G	NM_178815		18961608	+1	no_errors	ENST00000377275	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARMC4	55130	genome.wustl.edu	37	10	28283975	28283975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:28283975C>A	ENST00000305242.5	-	2	189	c.97G>T	c.(97-99)Gaa>Taa	p.E33*		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	33					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAATAATTTCTTTCAATATC	0.438																																																	0													80.0	76.0	77.0					10																	28283975		2203	4300	6503	SO:0001587	stop_gained	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.97G>T	10.37:g.28283975C>A	ENSP00000306410:p.Glu33*		A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.E33*	ENST00000305242.5	37	c.97	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284994	0.80803	.	.	ENSG00000169126	ENST00000305242	.	.	.	4.98	4.98	0.66077	.	0.181696	0.45606	D	0.000347	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.0447	14.92	0.70829	0.0:0.8458:0.1542:0.0	.	.	.	.	X	33	.	ENSP00000306410:E33X	E	-	1	0	ARMC4	28323981	0.999000	0.42202	0.214000	0.23707	0.878000	0.50629	3.963000	0.56773	2.293000	0.77203	0.585000	0.79938	GAA	ARMC4	-	NULL		0.438	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	C	NM_018076		28283975	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	nonsense	SNP	0.967	A
ARID5B	84159	genome.wustl.edu	37	10	63845627	63845627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:63845627G>T	ENST00000279873.7	+	9	1776	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	ARID5B_ENST00000309334.5_Nonsense_Mutation_p.E213*	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	456					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GAAAGAAAAAGAAAATGCCCC	0.448																																																	0													112.0	120.0	117.0					10																	63845627		2203	4300	6503	SO:0001587	stop_gained	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1366G>T	10.37:g.63845627G>T	ENSP00000279873:p.Glu456*		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Nonsense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E456*	ENST00000279873.7	37	c.1366	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	G	42	9.692527	0.99240	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	.	.	.	5.77	5.77	0.91146	.	0.481200	0.24604	N	0.037116	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-27.28	18.5274	0.90978	0.0:0.0:1.0:0.0	.	.	.	.	X	456;213	.	ENSP00000279873:E456X	E	+	1	0	ARID5B	63515633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.498000	0.81546	2.884000	0.98904	0.655000	0.94253	GAA	ARID5B	-	NULL		0.448	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	G	XM_084482		63845627	+1	no_errors	ENST00000279873	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARMC5	79798	genome.wustl.edu	37	16	31474058	31474058	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:31474058T>G	ENST00000563544.1	+	4	1736	c.1190T>G	c.(1189-1191)tTt>tGt	p.F397C	ARMC5_ENST00000457010.2_Missense_Mutation_p.F397C|ARMC5_ENST00000408912.3_Missense_Mutation_p.F492C|ARMC5_ENST00000268314.4_Missense_Mutation_p.F397C|ARMC5_ENST00000538189.1_Missense_Mutation_p.F429C|ARMC5_ENST00000412665.2_Intron			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	397										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTTGTGGGGTTTCTGTATGAC	0.637																																																	0													47.0	53.0	51.0					16																	31474058		1975	4175	6150	SO:0001583	missense	79798			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1190T>G	16.37:g.31474058T>G	ENSP00000456877:p.Phe397Cys		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.F492C	ENST00000563544.1	37	c.1475	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	t	18.16	3.562939	0.65538	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.47528	1.57;1.59;1.6;0.84	4.87	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.65421	-0.6172	10	0.56958	D	0.05	-5.2877	12.4239	0.55536	0.0:0.0:0.0:1.0	.	429;492;397;397	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	C	492;429;397;397	ENSP00000386125:F492C;ENSP00000443995:F429C;ENSP00000268314:F397C;ENSP00000399561:F397C	ENSP00000268314:F397C	F	+	2	0	ARMC5	31381559	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	6.389000	0.73199	1.826000	0.53198	0.375000	0.23000	TTT	ARMC5	-	superfamily_ARM-type_fold,smart_Armadillo		0.637	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1	T	NM_024742		31474058	+1	no_errors	ENST00000408912	ensembl	human	known	70_37	missense	SNP	1.000	G
ARMC8	25852	genome.wustl.edu	37	3	137960643	137960643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:137960643C>T	ENST00000469044.1	+	11	1127	c.856C>T	c.(856-858)Cga>Tga	p.R286*	ARMC8_ENST00000489213.1_Nonsense_Mutation_p.R244*|ARMC8_ENST00000485396.1_Nonsense_Mutation_p.R213*|ARMC8_ENST00000470821.1_Nonsense_Mutation_p.R286*|ARMC8_ENST00000471453.1_Nonsense_Mutation_p.R272*|ARMC8_ENST00000393058.3_Nonsense_Mutation_p.R276*|ARMC8_ENST00000491704.1_Nonsense_Mutation_p.R244*|ARMC8_ENST00000538260.1_Nonsense_Mutation_p.R255*|ARMC8_ENST00000358441.2_Nonsense_Mutation_p.R272*|ARMC8_ENST00000481646.1_Nonsense_Mutation_p.R272*|ARMC8_ENST00000461822.1_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	286										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TTGTTTGGTTCGAATGTGCAG	0.388																																																	0													121.0	110.0	114.0					3																	137960643		2203	4300	6503	SO:0001587	stop_gained	25852				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.856C>T	3.37:g.137960643C>T	ENSP00000419413:p.Arg286*		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R286*	ENST00000469044.1	37	c.856		3	.	.	.	.	.	.	.	.	.	.	C	40	8.405219	0.98796	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.206	17.546	0.87861	0.0:1.0:0.0:0.0	.	.	.	.	X	272;286;244;272;244;213;272;286;255;276;180;143	.	ENSP00000351221:R272X	R	+	1	2	ARMC8	139443333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.973000	0.70456	2.737000	0.93849	0.563000	0.77884	CGA	ARMC8	-	superfamily_ARM-type_fold		0.388	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	C	NM_015396		137960643	+1	no_errors	ENST00000469044	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARMCX2	9823	genome.wustl.edu	37	X	100911003	100911003	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100911003G>T	ENST00000328766.5	-	5	2025	c.1572C>A	c.(1570-1572)atC>atA	p.I524I	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.I524I|ARMCX2_ENST00000356824.4_Silent_p.I524I	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	524						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCTCAACCTTGATTTTTCCAC	0.373																																																	0													94.0	94.0	94.0					X																	100911003		2203	4300	6503	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1572C>A	X.37:g.100911003G>T			O60267|Q5H9D9	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.I524	ENST00000328766.5	37	c.1572	CCDS14490.1	X																																																																																			ARMCX2	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.373	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	G	NM_014782		100911003	-1	no_errors	ENST00000328766	ensembl	human	known	70_37	silent	SNP	1.000	T
ARMCX4	100131755	genome.wustl.edu	37	X	100743067	100743067	+	5'UTR	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100743067A>G	ENST00000423738.3	+	0	37					NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4							integral component of membrane (GO:0016021)				lung(1)	1						AGAGGAGGGAACTGCCTCGGA	0.493																																																	0																																										SO:0001623	5_prime_UTR_variant	100131755			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.-166A>G	X.37:g.100743067A>G			A8K928|B3KXA4|Q5H9K8|Q8N8D6	Silent	SNP	NULL	p.E49	ENST00000423738.3	37	c.147	CCDS59170.1	X																																																																																			ARMCX4	-	NULL		0.493	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	A	NM_001256155		100743067	+1	no_errors	ENST00000433011	ensembl	human	known	70_37	silent	SNP	0.015	G
ARMCX2	9823	genome.wustl.edu	37	X	100912263	100912263	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100912263G>A	ENST00000328766.5	-	5	765	c.312C>T	c.(310-312)agC>agT	p.S104S	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.S104S|ARMCX2_ENST00000356824.4_Silent_p.S104S	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	104	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GAGCCTCAGCGCTGGATGCAG	0.637																																																	0													43.0	42.0	42.0					X																	100912263		2203	4300	6503	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.312C>T	X.37:g.100912263G>A			O60267|Q5H9D9	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.S104	ENST00000328766.5	37	c.312	CCDS14490.1	X																																																																																			ARMCX2	-	NULL		0.637	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	G	NM_014782		100912263	-1	no_errors	ENST00000328766	ensembl	human	known	70_37	silent	SNP	0.002	A
ARPP21	10777	genome.wustl.edu	37	3	35785388	35785388	+	Missense_Mutation	SNP	C	C	T	rs375827523		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:35785388C>T	ENST00000187397.4	+	18	2419	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W	ARPP21_ENST00000458225.1_Missense_Mutation_p.R656W|ARPP21_ENST00000417925.1_Missense_Mutation_p.R656W|ARPP21_ENST00000337271.5_Missense_Mutation_p.R636W|MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000444190.1_Missense_Mutation_p.R636W	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	655	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.R655W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCAACAGTACCGGCCCATGGC	0.493																																																	1	Substitution - Missense(1)	prostate(1)						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	122.0	116.0	118.0		1963	4.9	1.0	3		118	0,8600		0,0,4300	no	missense	ARPP21	NM_016300.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	655/813	35785388	1,13005	2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1963C>T	3.37:g.35785388C>T	ENSP00000187397:p.Arg655Trp		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.R656W	ENST00000187397.4	37	c.1966	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344605	0.82022	2.27E-4	0.0	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.82	4.9	0.64082	.	0.000000	0.64402	D	0.000013	T	0.71039	0.3293	M	0.78637	2.42	0.41741	D	0.989616	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.999	T	0.74340	-0.3697	10	0.87932	D	0	-27.7839	11.8217	0.52242	0.269:0.731:0.0:0.0	.	656;178;655;636	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	W	656;636;636;655;656	ENSP00000414351:R656W;ENSP00000337792:R636W;ENSP00000405276:R636W;ENSP00000187397:R655W;ENSP00000412326:R656W	ENSP00000187397:R655W	R	+	1	2	ARPP21	35760392	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.218000	0.42889	2.740000	0.93945	0.655000	0.94253	CGG	ARPP21	-	NULL		0.493	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	C	NM_198399		35785388	+1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	1.000	T
ART5	116969	genome.wustl.edu	37	11	3661163	3661163	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:3661163G>A	ENST00000397068.3	-	2	888	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	ART5_ENST00000397067.3_Missense_Mutation_p.R166C|TRPC2_ENST00000526541.1_RNA|ART5_ENST00000359918.4_Missense_Mutation_p.R166C	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	166					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTCAAAGCGAAGGCTGCCC	0.627																																																	0													53.0	53.0	53.0					11																	3661163		2201	4298	6499	SO:0001583	missense	116969			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.496C>T	11.37:g.3661163G>A	ENSP00000380258:p.Arg166Cys		C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	pfam_ART,prints_ART	p.R166C	ENST00000397068.3	37	c.496	CCDS7743.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.19|15.19	2.761152|2.761152	0.49468|0.49468	.|.	.|.	ENSG00000167311|ENSG00000167311	ENST00000397068;ENST00000397067;ENST00000359918|ENST00000453353	T;T;T|.	0.10288|.	2.89;2.89;2.89|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	1.062470|.	0.07060|.	N|.	0.833539|.	T|T	0.81211|0.81211	0.4775|0.4775	M|M	0.88775|0.88775	2.98|2.98	0.37842|0.37842	D|D	0.929101|0.929101	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.65140|.	0.931;0.932|.	D|D	0.85146|0.85146	0.0983|0.0983	10|5	0.49607|.	T|.	0.09|.	-4.0632|-4.0632	16.0793|16.0793	0.80989|0.80989	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	166;166|.	Q96L15-2;Q96L15|.	.;NAR5_HUMAN|.	C|L	166|122	ENSP00000380258:R166C;ENSP00000380257:R166C;ENSP00000352992:R166C|.	ENSP00000352992:R166C|.	R|S	-|-	1|2	0|0	ART5|ART5	3617739|3617739	0.174000|0.174000	0.23070|0.23070	0.887000|0.887000	0.34795|0.34795	0.221000|0.221000	0.24807|0.24807	3.183000|3.183000	0.50918|0.50918	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CGC|TCG	ART5	-	pfam_ART		0.627	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART5	HGNC	protein_coding	OTTHUMT00000032760.2	G	NM_053017		3661163	-1	no_errors	ENST00000359918	ensembl	human	known	70_37	missense	SNP	0.887	A
ARRB1	408	genome.wustl.edu	37	11	74977311	74977311	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:74977311C>T	ENST00000420843.2	-	16	1250	c.1153G>A	c.(1153-1155)Gac>Aac	p.D385N	ARRB1_ENST00000393505.4_Missense_Mutation_p.D385N|CTD-2562J17.9_ENST00000529304.1_RNA|ARRB1_ENST00000360025.3_Missense_Mutation_p.D377N	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	385	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						AATACAATGTCGTCATCACTG	0.527																																																	0													153.0	118.0	130.0					11																	74977311		2200	4293	6493	SO:0001583	missense	408			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1153G>A	11.37:g.74977311C>T	ENSP00000409581:p.Asp385Asn		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.D385N	ENST00000420843.2	37	c.1153	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587826	0.86851	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532447	T;T;T	0.13538	2.58;2.58;2.58	4.97	4.97	0.65823	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.32466	0.0830	L	0.58354	1.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.972;0.992	T	0.01416	-1.1360	10	0.29301	T	0.29	-19.0269	15.7228	0.77728	0.0:1.0:0.0:0.0	.	377;385	P49407-2;P49407	.;ARRB1_HUMAN	N	385;385;377;184	ENSP00000409581:D385N;ENSP00000377141:D385N;ENSP00000353124:D377N	ENSP00000353124:D377N	D	-	1	0	ARRB1	74654959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.080000	0.76837	2.314000	0.78098	0.563000	0.77884	GAC	ARRB1	-	superfamily_Ig_E-set,prints_Arrestin		0.527	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	C	NM_004041		74977311	-1	no_errors	ENST00000393505	ensembl	human	known	70_37	missense	SNP	1.000	T
ASAP3	55616	genome.wustl.edu	37	1	23765253	23765253	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:23765253G>A	ENST00000336689.3	-	12	1133	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	ASAP3_ENST00000437606.2_Silent_p.F354F|ASAP3_ENST00000495646.1_5'Flank	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	363	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TCACCAGGTCGAAGCACTTTT	0.612																																																	0													96.0	94.0	95.0					1																	23765253		2203	4300	6503	SO:0001819	synonymous_variant	55616			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1089C>T	1.37:g.23765253G>A			B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.F363	ENST00000336689.3	37	c.1089	CCDS235.1	1																																																																																			ASAP3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.612	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	HGNC	protein_coding	OTTHUMT00000008916.2	G	NM_017707		23765253	-1	no_errors	ENST00000336689	ensembl	human	known	70_37	silent	SNP	0.995	A
ASB16	92591	genome.wustl.edu	37	17	42248408	42248408	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:42248408A>G	ENST00000293414.1	+	1	335	c.251A>G	c.(250-252)aAc>aGc	p.N84S		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	84					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GAGGCCGCCAACATGATTGTG	0.607																																																	0													38.0	39.0	38.0					17																	42248408		2203	4300	6503	SO:0001583	missense	92591			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.251A>G	17.37:g.42248408A>G	ENSP00000293414:p.Asn84Ser		B2RBC0|Q8WXK0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.N84S	ENST00000293414.1	37	c.251	CCDS11478.1	17	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871064	0.91587	.	.	ENSG00000161664	ENST00000293414	T	0.54866	0.55	5.36	5.36	0.76844	Ankyrin repeat-containing domain (2);	0.043881	0.85682	D	0.000000	T	0.65780	0.2724	L	0.51914	1.62	0.53688	D	0.999979	D	0.71674	0.998	D	0.71870	0.975	T	0.65471	-0.6160	10	0.45353	T	0.12	-25.0159	14.4831	0.67597	1.0:0.0:0.0:0.0	.	84	Q96NS5	ASB16_HUMAN	S	84	ENSP00000293414:N84S	ENSP00000293414:N84S	N	+	2	0	ASB16	39603934	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.057000	0.89457	2.254000	0.74563	0.459000	0.35465	AAC	ASB16	-	superfamily_Ankyrin_rpt-contain_dom		0.607	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB16	HGNC	protein_coding	OTTHUMT00000457703.1	A			42248408	+1	no_errors	ENST00000293414	ensembl	human	known	70_37	missense	SNP	1.000	G
ASCC3	10973	genome.wustl.edu	37	6	101248365	101248365	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:101248365A>T	ENST00000369162.2	-	6	1282	c.938T>A	c.(937-939)aTt>aAt	p.I313N	ASCC3_ENST00000522650.1_Missense_Mutation_p.I313N	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	313					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.I313N(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTCTCCTAAAATTTTTTTACA	0.303																																																	1	Substitution - Missense(1)	large_intestine(1)											46.0	44.0	45.0					6																	101248365		2200	4298	6498	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.938T>A	6.37:g.101248365A>T	ENSP00000358159:p.Ile313Asn		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I313N	ENST00000369162.2	37	c.938	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457177	0.26161	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.49139	0.79;0.79	5.51	5.51	0.81932	.	0.467407	0.22701	N	0.056693	T	0.14270	0.0345	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09840	-1.0656	10	0.17369	T	0.5	.	15.6243	0.76840	1.0:0.0:0.0:0.0	.	313;313	E7EW23;Q8N3C0	.;HELC1_HUMAN	N	313	ENSP00000358159:I313N;ENSP00000430769:I313N	ENSP00000358159:I313N	I	-	2	0	ASCC3	101355086	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.640000	0.54350	2.091000	0.63221	0.459000	0.35465	ATT	ASCC3	-	NULL		0.303	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	A	NM_006828		101248365	-1	no_errors	ENST00000369162	ensembl	human	known	70_37	missense	SNP	1.000	T
ASH1L	55870	genome.wustl.edu	37	1	155330125	155330125	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:155330125A>C	ENST00000368346.3	-	13	7416	c.6777T>G	c.(6775-6777)gaT>gaG	p.D2259E	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2254E|RNU6-106P_ENST00000384405.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2259	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAAAGTTATAATCATAAGTGA	0.363																																																	0													103.0	102.0	103.0					1																	155330125		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6777T>G	1.37:g.155330125A>C	ENSP00000357330:p.Asp2259Glu		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.D2259E	ENST00000368346.3	37	c.6777		1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.878278	0.91664	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.84589	-1.87;-1.87	5.09	3.95	0.45737	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	H	0.94385	3.53	0.80722	D	1	D;D	0.76494	0.999;0.985	D;D	0.81914	0.995;0.979	D	0.91298	0.5064	10	0.87932	D	0	.	3.7837	0.08690	0.7146:0.0:0.2854:0.0	.	2259;2254	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	E	2259;2254	ENSP00000357330:D2259E;ENSP00000376204:D2254E	ENSP00000357330:D2259E	D	-	3	2	ASH1L	153596749	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.561000	0.53770	2.133000	0.65898	0.533000	0.62120	GAT	ASH1L	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.363	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	A	NM_018489		155330125	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	1.000	C
ASH1L	55870	genome.wustl.edu	37	1	155408777	155408777	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:155408777T>G	ENST00000368346.3	-	5	5808	c.5169A>C	c.(5167-5169)caA>caC	p.Q1723H	ASH1L_ENST00000392403.3_Missense_Mutation_p.Q1723H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1723	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGTCCTCATTTTGTACCATCC	0.493																																																	0													64.0	60.0	61.0					1																	155408777		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5169A>C	1.37:g.155408777T>G	ENSP00000357330:p.Gln1723His		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.Q1723H	ENST00000368346.3	37	c.5169		1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109180	0.37242	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88975	-2.45;-2.45	5.2	-3.08	0.05347	.	0.360811	0.27522	N	0.018996	T	0.50017	0.1591	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17167	-1.0378	10	0.22109	T	0.4	.	2.3835	0.04360	0.2389:0.4015:0.1225:0.2372	.	1723;1723	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	1723	ENSP00000357330:Q1723H;ENSP00000376204:Q1723H	ENSP00000357330:Q1723H	Q	-	3	2	ASH1L	153675401	0.821000	0.29204	0.855000	0.33649	0.985000	0.73830	-0.445000	0.06845	-0.778000	0.04566	0.460000	0.39030	CAA	ASH1L	-	NULL		0.493	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	T	NM_018489		155408777	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	0.896	G
ASH1L	55870	genome.wustl.edu	37	1	155491127	155491127	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:155491127T>C	ENST00000368346.3	-	2	823	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	ASH1L_ENST00000548830.1_Missense_Mutation_p.K62E|ASH1L_ENST00000392403.3_Missense_Mutation_p.K62E			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	62					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCATCATCTTTCCCAGCTTCG	0.408																																																	0													289.0	292.0	291.0					1																	155491127		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.184A>G	1.37:g.155491127T>C	ENSP00000357330:p.Lys62Glu		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.K62E	ENST00000368346.3	37	c.184		1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883022	0.72410	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.88975	-2.45;-2.45	5.92	4.8	0.61643	.	0.206924	0.40144	N	0.001169	T	0.64757	0.2627	N	0.08118	0	0.32104	N	0.590216	B;B	0.29590	0.162;0.25	B;B	0.27608	0.037;0.081	T	0.64550	-0.6381	10	0.46703	T	0.11	.	9.8655	0.41140	0.0:0.0774:0.0:0.9226	.	62;62	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	E	62	ENSP00000357330:K62E;ENSP00000376204:K62E	ENSP00000357330:K62E	K	-	1	0	ASH1L	153757751	0.891000	0.30450	0.886000	0.34754	0.612000	0.37316	2.109000	0.41863	2.266000	0.75297	0.455000	0.32223	AAA	ASH1L	-	NULL		0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	T	NM_018489		155491127	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	0.992	C
ASPH	444	genome.wustl.edu	37	8	62546284	62546284	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:62546284C>A	ENST00000379454.4	-	13	1079	c.892G>T	c.(892-894)Gta>Tta	p.V298L	ASPH_ENST00000517903.1_Missense_Mutation_p.V283L|ASPH_ENST00000356457.5_Missense_Mutation_p.V298L|ASPH_ENST00000517847.2_Missense_Mutation_p.V284L|ASPH_ENST00000445642.3_Missense_Mutation_p.V284L|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000518068.1_Missense_Mutation_p.V255L|ASPH_ENST00000541428.1_Missense_Mutation_p.V269L|RN7SKP97_ENST00000410966.1_RNA|ASPH_ENST00000522835.1_Missense_Mutation_p.V241L|ASPH_ENST00000522919.1_Missense_Mutation_p.V111L	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	298	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AAAATGCTTACTTCTAAAATA	0.294																																																	0													46.0	50.0	48.0					8																	62546284		2201	4291	6492	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.892G>T	8.37:g.62546284C>A	ENSP00000368767:p.Val298Leu		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V298L	ENST00000379454.4	37	c.892	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420089	0.42918	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835	T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.21	0.0451	0.14228	Aspartyl beta-hydroxylase/Triadin domain (1);	1.196350	0.06046	N	0.655820	T	0.37679	0.1012	L	0.29908	0.895	0.09310	N	1	B;P;P;P;B;B;P;B;P;B	0.50369	0.37;0.888;0.67;0.67;0.021;0.017;0.934;0.002;0.813;0.27	B;P;B;P;B;B;P;B;P;B	0.46825	0.073;0.528;0.411;0.447;0.024;0.012;0.528;0.003;0.528;0.034	T	0.20472	-1.0274	10	0.56958	D	0.05	-1.6033	1.8829	0.03231	0.1407:0.4774:0.1368:0.2452	.	279;241;283;264;269;279;255;298;284;298	B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;ASPH_HUMAN	L	279;269;298;111;298;312;255;283;284;284;241	ENSP00000437864:V269L;ENSP00000368767:V298L;ENSP00000430516:V111L;ENSP00000348841:V298L;ENSP00000427823:V312L;ENSP00000429286:V255L;ENSP00000430245:V283L;ENSP00000394013:V284L;ENSP00000429954:V284L;ENSP00000429160:V241L	ENSP00000348841:V298L	V	-	1	0	ASPH	62708838	0.006000	0.16342	0.003000	0.11579	0.024000	0.10985	-0.150000	0.10189	-0.220000	0.09988	0.563000	0.77884	GTA	ASPH	-	pfam_Asp-B-hydro/Triadin_dom		0.294	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	C	NM_004318		62546284	-1	no_errors	ENST00000379454	ensembl	human	known	70_37	missense	SNP	0.036	A
ASPHD2	57168	genome.wustl.edu	37	22	26829794	26829794	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:26829794C>T	ENST00000215906.5	+	2	651	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	71					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TGGTCCTCTTCGTGTGGTACT	0.647																																																	0													95.0	80.0	85.0					22																	26829794		2203	4300	6503	SO:0001819	synonymous_variant	57168			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.213C>T	22.37:g.26829794C>T			B2RCH3|Q7L0W3|Q9NSN3	Silent	SNP	pfam_Asp_Arg_b-Hydrxlase	p.F71	ENST00000215906.5	37	c.213	CCDS13834.2	22																																																																																			ASPHD2	-	NULL		0.647	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	HGNC	protein_coding	OTTHUMT00000320422.1	C	NM_020437		26829794	+1	no_errors	ENST00000215906	ensembl	human	known	70_37	silent	SNP	0.982	T
ASXL2	55252	genome.wustl.edu	37	2	25965734	25965734	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:25965734C>T	ENST00000435504.4	-	13	3765	c.3472G>A	c.(3472-3474)Gcc>Acc	p.A1158T	ASXL2_ENST00000336112.4_Missense_Mutation_p.A1130T|ASXL2_ENST00000272341.4_Missense_Mutation_p.A641T|ASXL2_ENST00000404843.1_Missense_Mutation_p.A641T			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1158					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTTCAAGGCTTCAGTGGGG	0.458																																																	0													100.0	99.0	99.0					2																	25965734		1914	4133	6047	SO:0001583	missense	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3472G>A	2.37:g.25965734C>T	ENSP00000391447:p.Ala1158Thr		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.A1158T	ENST00000435504.4	37	c.3472		2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861966	0.32884	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18810	2.2;2.2;2.19;2.19	6.02	5.12	0.69794	.	0.555090	0.20989	N	0.082061	T	0.18467	0.0443	L	0.35723	1.085	0.21822	N	0.999528	B;B	0.33637	0.42;0.024	B;B	0.32289	0.143;0.01	T	0.09818	-1.0657	10	0.24483	T	0.36	-1.9545	15.8158	0.78597	0.0:0.8637:0.1363:0.0	.	641;1158	Q76L83-2;Q76L83	.;ASXL2_HUMAN	T	1158;1130;641;641	ENSP00000391447:A1158T;ENSP00000337250:A1130T;ENSP00000383920:A641T;ENSP00000272341:A641T	ENSP00000272341:A641T	A	-	1	0	ASXL2	25819238	0.010000	0.17322	0.998000	0.56505	0.994000	0.84299	1.094000	0.30951	1.500000	0.48636	0.655000	0.94253	GCC	ASXL2	-	NULL		0.458	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	C	NM_018263		25965734	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	missense	SNP	1.000	T
ATM	472	genome.wustl.edu	37	11	108129735	108129735	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:108129735C>T	ENST00000452508.2	+	17	2588	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	ATM_ENST00000278616.4_Missense_Mutation_p.S800F			Q13315	ATM_HUMAN	ATM serine/threonine kinase	800					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGATTGCATCTGGCTTTTTC	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													129.0	123.0	125.0					11																	108129735		2200	4298	6498	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2399C>T	11.37:g.108129735C>T	ENSP00000388058:p.Ser800Phe		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S800F	ENST00000452508.2	37	c.2399	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704176	0.68615	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.75154	-0.91;-0.91;-0.91	5.8	5.8	0.92144	Armadillo-type fold (1);	0.172575	0.53938	D	0.000058	D	0.83663	0.5303	M	0.67953	2.075	0.42414	D	0.99261	D	0.63880	0.993	P	0.57548	0.823	D	0.84739	0.0750	10	0.72032	D	0.01	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	800	Q13315	ATM_HUMAN	F	800	ENSP00000435747:S800F;ENSP00000278616:S800F;ENSP00000388058:S800F	ENSP00000278616:S800F	S	+	2	0	ATM	107634945	1.000000	0.71417	0.995000	0.50966	0.260000	0.26232	5.335000	0.65929	2.744000	0.94065	0.655000	0.94253	TCT	ATM	-	superfamily_ARM-type_fold		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	C	NM_000051		108129735	+1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP10A	57194	genome.wustl.edu	37	15	25924953	25924953	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:25924953C>A	ENST00000356865.6	-	21	4146	c.4035G>T	c.(4033-4035)aaG>aaT	p.K1345N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1345					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCACAGAGGTCTTGACTGTCC	0.632																																																	0													71.0	68.0	69.0					15																	25924953		2203	4300	6503	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4035G>T	15.37:g.25924953C>A	ENSP00000349325:p.Lys1345Asn		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.K1345N	ENST00000356865.6	37	c.4035	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	2.073	-0.412519	0.04799	.	.	ENSG00000206190	ENST00000356865	T	0.39592	1.07	5.14	-10.3	0.00346	.	6.408110	0.00166	N	0.000001	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19844	-1.0293	10	0.17832	T	0.49	2.5288	1.9812	0.03426	0.3113:0.3406:0.0769:0.2712	.	1345	O60312	AT10A_HUMAN	N	1345	ENSP00000349325:K1345N	ENSP00000349325:K1345N	K	-	3	2	ATP10A	23476046	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-4.444000	0.00048	-0.238000	0.12139	AAG	ATP10A	-	NULL		0.632	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	C	NM_024490		25924953	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	missense	SNP	0.000	A
ATP11A	23250	genome.wustl.edu	37	13	113536242	113536242	+	3'UTR	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:113536242C>T	ENST00000487903.1	+	0	3618				ATP11A_ENST00000375645.3_3'UTR|ATP11A_ENST00000375630.2_Missense_Mutation_p.S1147F			P98196	AT11A_HUMAN	ATPase, class VI, type 11A						phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGCTCCCACTCTCAGCAGGTG	0.642																																																	0													106.0	105.0	105.0					13																	113536242		2203	4300	6503	SO:0001624	3_prime_UTR_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.*125C>T	13.37:g.113536242C>T			Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S1147F	ENST00000487903.1	37	c.3440	CCDS32011.1	13	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902609	0.33628	.	.	ENSG00000068650	ENST00000375630;ENST00000419631	T;T	0.46451	0.87;1.9	4.22	4.22	0.49857	.	4.452450	0.01409	N	0.013913	T	0.37919	0.1021	N	0.19112	0.55	0.35328	D	0.785363	B	0.02656	0.0	B	0.01281	0.0	T	0.09751	-1.0660	10	0.59425	D	0.04	.	14.7883	0.69819	0.0:1.0:0.0:0.0	.	1147	E9PEJ6	.	F	1147;139	ENSP00000364781:S1147F;ENSP00000410824:S139F	ENSP00000364781:S1147F	S	+	2	0	ATP11A	112584243	0.044000	0.20184	0.002000	0.10522	0.009000	0.06853	2.278000	0.43426	1.897000	0.54924	0.491000	0.48974	TCT	ATP11A	-	NULL		0.642	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	C	NM_015205		113536242	+1	no_errors	ENST00000375630	ensembl	human	known	70_37	missense	SNP	0.007	T
ATP11B	23200	genome.wustl.edu	37	3	182575668	182575668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:182575668C>A	ENST00000323116.5	+	11	1114	c.854C>A	c.(853-855)tCa>tAa	p.S285*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	285					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCCTTAAGGTCAATGAATACA	0.274																																																	0													43.0	47.0	45.0					3																	182575668		2200	4296	6496	SO:0001587	stop_gained	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.854C>A	3.37:g.182575668C>A	ENSP00000321195:p.Ser285*		Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S285*	ENST00000323116.5	37	c.854	CCDS33896.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.522116|5.522116	0.96416|0.96416	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.74906|.	0.3778|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71580|.	-0.4550|.	4|.	.|0.35671	.|T	.|0.21	.|.	19.6183|19.6183	0.95645|0.95645	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	86|285	.|.	.|ENSP00000321195:S285X	Q|S	+|+	1|2	0|0	ATP11B|ATP11B	184058362|184058362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.009000|0.009000	0.06853|0.06853	5.681000|5.681000	0.68175|0.68175	2.653000|2.653000	0.90120|0.90120	0.650000|0.650000	0.86243|0.86243	CAA|TCA	ATP11B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.274	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	C	NM_014616		182575668	+1	no_errors	ENST00000323116	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ATP12A	479	genome.wustl.edu	37	13	25283926	25283926	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:25283926A>G	ENST00000381946.3	+	19	2890	c.2723A>G	c.(2722-2724)gAc>gGc	p.D908G	ATP12A_ENST00000218548.6_Missense_Mutation_p.D914G			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	908					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TGGGAGAAGGACTACGTGAAT	0.542																																					Pancreas(156;1582 1935 18898 22665 26498)												0													125.0	122.0	123.0					13																	25283926		2203	4300	6503	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2723A>G	13.37:g.25283926A>G	ENSP00000371372:p.Asp908Gly		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	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,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.D914G	ENST00000381946.3	37	c.2741	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	A	6.936	0.542465	0.13250	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.88664	-2.41;-2.41	5.79	2.01	0.26516	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.700209	0.14212	N	0.333967	T	0.81221	0.4777	L	0.39020	1.185	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.69884	-0.5024	10	0.66056	D	0.02	.	4.6956	0.12802	0.5936:0.1526:0.2539:0.0	.	914;908	P54707-2;P54707	.;AT12A_HUMAN	G	914;908	ENSP00000218548:D914G;ENSP00000371372:D908G	ENSP00000218548:D914G	D	+	2	0	ATP12A	24181926	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.509000	0.22707	0.120000	0.18254	0.533000	0.62120	GAC	ATP12A	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk		0.542	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	A	NM_001676		25283926	+1	no_errors	ENST00000218548	ensembl	human	known	70_37	missense	SNP	0.000	G
ATP13A5	344905	genome.wustl.edu	37	3	193081925	193081925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:193081925C>A	ENST00000342358.4	-	2	325	c.208G>T	c.(208-210)Gaa>Taa	p.E70*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	70						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGTCTGCTTCTTGCAAGGGG	0.527																																																	0													163.0	154.0	157.0					3																	193081925		2203	4300	6503	SO:0001587	stop_gained	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.208G>T	3.37:g.193081925C>A	ENSP00000341942:p.Glu70*		Q6UWS4|Q6ZWL0	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.E70*	ENST00000342358.4	37	c.208	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962074	0.92791	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-19.7537	17.4913	0.87704	0.0:1.0:0.0:0.0	.	.	.	.	X	70;92	.	ENSP00000341942:E70X	E	-	1	0	ATP13A5	194564619	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	5.054000	0.64275	2.822000	0.97130	0.650000	0.86243	GAA	ATP13A5	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.527	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	C	NM_198505		193081925	-1	no_errors	ENST00000342358	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ATP13A4	84239	genome.wustl.edu	37	3	193171950	193171950	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:193171950C>T	ENST00000342695.4	-	17	2289	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	ATP13A4_ENST00000392443.3_Missense_Mutation_p.R637Q	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	656						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGCTATGACTCGGAAGCCCTG	0.433																																																	0													147.0	125.0	133.0					3																	193171950		2203	4300	6503	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1967G>A	3.37:g.193171950C>T	ENSP00000339182:p.Arg656Gln		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.R656Q	ENST00000342695.4	37	c.1967	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	C	35	5.454441	0.96223	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	D;D	0.87256	-2.23;-2.23	6.17	6.17	0.99709	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000005	D	0.96978	0.9013	H	0.99682	4.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.994;0.989;0.995	D	0.98208	1.0471	10	0.87932	D	0	-22.6714	18.3732	0.90420	0.0:1.0:0.0:0.0	.	637;656;656	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	Q	637;656	ENSP00000376238:R637Q;ENSP00000339182:R656Q	ENSP00000339182:R656Q	R	-	2	0	ATP13A4	194654644	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.617000	0.67716	2.941000	0.99782	0.655000	0.94253	CGA	ATP13A4	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr		0.433	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	C	NM_032279		193171950	-1	no_errors	ENST00000342695	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP2B1	490	genome.wustl.edu	37	12	90005126	90005126	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:90005126A>C	ENST00000428670.3	-	13	2547	c.2091T>G	c.(2089-2091)tgT>tgG	p.C697W	ATP2B1_ENST00000393164.2_Missense_Mutation_p.C440W|ATP2B1_ENST00000359142.3_Missense_Mutation_p.C697W|ATP2B1_ENST00000261173.2_Missense_Mutation_p.C697W|ATP2B1_ENST00000348959.3_Missense_Mutation_p.C697W			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	697					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CAGCCCTCTGACACTTTTTAA	0.363																																																	0													147.0	154.0	152.0					12																	90005126		2203	4300	6503	SO:0001583	missense	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2091T>G	12.37:g.90005126A>C	ENSP00000392043:p.Cys697Trp		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.C697W	ENST00000428670.3	37	c.2091	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	A	17.75	3.465918	0.63625	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95	5.88	1.84	0.25277	.	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.99705	4.715	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.91635	0.88;0.996;0.999	D	0.97354	0.9965	10	0.87932	D	0	-30.3882	9.3884	0.38359	0.6584:0.0:0.3416:0.0	.	697;697;697	P20020-3;P20020-2;P20020-6	.;.;.	W	697;697;697;697;440	ENSP00000261173:C697W;ENSP00000343599:C697W;ENSP00000352054:C697W;ENSP00000392043:C697W;ENSP00000376869:C440W	ENSP00000261173:C697W	C	-	3	2	ATP2B1	88529257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.304000	0.33482	0.400000	0.25396	0.533000	0.62120	TGT	ATP2B1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA		0.363	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	A	NM_001682		90005126	-1	no_errors	ENST00000261173	ensembl	human	known	70_37	missense	SNP	1.000	C
ATP2B2	491	genome.wustl.edu	37	3	10443974	10443974	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:10443974G>A	ENST00000352432.4	-	3	525	c.456C>T	c.(454-456)atC>atT	p.I152I	ATP2B2_ENST00000360273.2_Silent_p.I152I|ATP2B2_ENST00000343816.4_Silent_p.I152I|ATP2B2_ENST00000383800.4_Silent_p.I152I|ATP2B2_ENST00000397077.1_Silent_p.I152I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	152					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.I152I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGCCCCCTCGATCCAACCTG	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)												1	Substitution - coding silent(1)	large_intestine(1)											75.0	85.0	82.0					3																	10443974		2203	4300	6503	SO:0001819	synonymous_variant	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.456C>T	3.37:g.10443974G>A			O00766|Q12994|Q16818	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.I152	ENST00000352432.4	37	c.456	CCDS33701.1	3																																																																																			ATP2B2	-	NULL		0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	G	NM_001683		10443974	-1	no_errors	ENST00000352432	ensembl	human	known	70_37	silent	SNP	0.998	A
ATP5G3	518	genome.wustl.edu	37	2	176043891	176043891	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:176043891C>A	ENST00000284727.4	-	4	3232	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	ATP5G3_ENST00000409194.1_Missense_Mutation_p.D70Y|ATP5G3_ENST00000392541.3_Missense_Mutation_p.D70Y|Y_RNA_ENST00000363251.1_RNA	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	70					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GCAGCAGTATCAATGTCTCTG	0.473																																					GBM(30;387 605 18606 28805 47989)												0													111.0	100.0	104.0					2																	176043891		2203	4300	6503	SO:0001583	missense	518			BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.208G>T	2.37:g.176043891C>A	ENSP00000284727:p.Asp70Tyr		B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_F0-cplx_csu	p.D70Y	ENST00000284727.4	37	c.208	CCDS2263.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.263620	0.95399	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.40476	1.03;1.03;1.03	5.92	5.92	0.95590	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76806	-0.2823	10	0.44086	T	0.13	-8.4725	20.3343	0.98733	0.0:1.0:0.0:0.0	.	70	P48201	AT5G3_HUMAN	Y	70	ENSP00000284727:D70Y;ENSP00000387317:D70Y;ENSP00000376324:D70Y	ENSP00000284727:D70Y	D	-	1	0	ATP5G3	175752137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.822000	0.97130	0.650000	0.86243	GAT	ATP5G3	-	superfamily_ATPase_F0/V0-cplx_csu		0.473	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5G3	HGNC	protein_coding	OTTHUMT00000255563.1	C	NM_001689		176043891	-1	no_errors	ENST00000284727	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP5H	10476	genome.wustl.edu	37	17	73035359	73035359	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:73035359G>T	ENST00000301587.4	-	5	346	c.299C>A	c.(298-300)tCt>tAt	p.S100Y	ATP5H_ENST00000344546.4_Missense_Mutation_p.S76Y|RN7SL573P_ENST00000485340.2_RNA|KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	100					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2	all_lung(278;0.226)					CTCAGCACAAGATTTCACCTT	0.473																																																	0													114.0	105.0	108.0					17																	73035359		2203	4300	6503	SO:0001583	missense	10476			AF087135	CCDS11712.1, CCDS32727.1	17q25	2014-01-24	2010-06-11		ENSG00000167863	ENSG00000167863		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	845	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d"""			11042152	Standard	NM_006356		Approved	ATPQ, ATP5JD	uc002jmn.1	O75947	OTTHUMG00000179219	ENST00000301587.4:c.299C>A	17.37:g.73035359G>T	ENSP00000301587:p.Ser100Tyr		B2R5L6|Q9H3J4	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_dsu_mt,pirsf_ATPase_F0-cplx_dsu_mt	p.S100Y	ENST00000301587.4	37	c.299	CCDS11712.1	17	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632394	0.29068	.	.	ENSG00000167863	ENST00000301587;ENST00000344546	.	.	.	5.72	-6.85	0.01681	.	0.744268	0.14360	N	0.324511	T	0.41696	0.1170	M	0.77103	2.36	0.09310	N	0.999994	P;P	0.51240	0.543;0.943	B;P	0.50860	0.149;0.652	T	0.29488	-1.0010	9	0.66056	D	0.02	.	2.9729	0.05928	0.1669:0.3585:0.3006:0.1741	.	76;100	O75947-2;O75947	.;ATP5H_HUMAN	Y	100;76	.	ENSP00000301587:S100Y	S	-	2	0	ATP5H	70546954	0.006000	0.16342	0.001000	0.08648	0.522000	0.34438	-0.617000	0.05584	-0.786000	0.04516	-0.305000	0.09177	TCT	ATP5H	-	pfam_ATPase_F0-cplx_dsu_mt,pirsf_ATPase_F0-cplx_dsu_mt		0.473	ATP5H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5H	HGNC	protein_coding	OTTHUMT00000445318.1	G	NM_006356		73035359	-1	no_errors	ENST00000301587	ensembl	human	known	70_37	missense	SNP	0.001	T
ATP6AP2	10159	genome.wustl.edu	37	X	40464971	40464971	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:40464971T>G	ENST00000378438.4	+	9	1175	c.1017T>G	c.(1015-1017)atT>atG	p.I339M	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.I307M|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.I261M|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.I263M	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	339					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						ATAGCATCATTTATAGGATGA	0.368																																																	0													99.0	84.0	89.0					X																	40464971		2203	4300	6503	SO:0001583	missense	10159			AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.1017T>G	X.37:g.40464971T>G	ENSP00000367697:p.Ile339Met		B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	pfam_Renin_rcpt	p.I339M	ENST00000378438.4	37	c.1017	CCDS14252.1	X	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328979	0.60743	.	.	ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000544975;ENST00000535777	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.65	1.73	0.24493	.	0.088650	0.85682	D	0.000000	T	0.72220	0.3433	M	0.86268	2.805	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;0.991;1.0;1.0	D;P;D;D	0.81914	0.995;0.906;0.986;0.991	T	0.67488	-0.5658	10	0.49607	T	0.09	-26.5536	5.7998	0.18408	0.1259:0.1408:0.0:0.7333	.	261;307;263;339	B7Z1I9;B7Z9I3;B7Z413;O75787	.;.;.;RENR_HUMAN	M	307;339;263;261	ENSP00000438415:I307M;ENSP00000367697:I339M;ENSP00000440459:I263M;ENSP00000441536:I261M	ENSP00000367697:I339M	I	+	3	3	ATP6AP2	40349915	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.998000	0.40796	-0.039000	0.13602	0.486000	0.48141	ATT	ATP6AP2	-	pfam_Renin_rcpt		0.368	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP2	HGNC	protein_coding	OTTHUMT00000060679.1	T	NM_005765		40464971	+1	no_errors	ENST00000378438	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP6V1B1	525	genome.wustl.edu	37	2	71187139	71187139	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:71187139C>T	ENST00000234396.4	+	6	589	c.516C>T	c.(514-516)gaC>gaT	p.D172D	ATP6V1B1_ENST00000412314.1_Silent_p.D172D|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	172					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CTCCTATTGACGTCATGAACA	0.617																																																	0													88.0	78.0	82.0					2																	71187139		2203	4300	6503	SO:0001819	synonymous_variant	525			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.516C>T	2.37:g.71187139C>T			Q53FY0|Q6P4H6	Silent	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.D172	ENST00000234396.4	37	c.516	CCDS1912.1	2																																																																																			ATP6V1B1	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_bsu		0.617	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B1	HGNC	protein_coding	OTTHUMT00000251920.2	C	NM_001692		71187139	+1	no_errors	ENST00000234396	ensembl	human	known	70_37	silent	SNP	0.726	T
ATP6V1B2	526	genome.wustl.edu	37	8	20070411	20070411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:20070411C>T	ENST00000276390.2	+	9	962	c.922C>T	c.(922-924)Cga>Tga	p.R308*		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	308					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	TGAAGCACTTCGAGAGGTAAG	0.373																																					Pancreas(119;1230 1726 3901 4036 31644)												0													140.0	126.0	131.0					8																	20070411		2203	4300	6503	SO:0001587	stop_gained	526			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.922C>T	8.37:g.20070411C>T	ENSP00000276390:p.Arg308*		B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Nonsense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.R308*	ENST00000276390.2	37	c.922	CCDS6014.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.756648	0.96898	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	.	.	.	4.9	4.9	0.64082	.	0.053125	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.4833	12.2844	0.54783	0.1696:0.8304:0.0:0.0	.	.	.	.	X	308;182	.	ENSP00000276390:R308X	R	+	1	2	ATP6V1B2	20114691	0.058000	0.20735	1.000000	0.80357	0.912000	0.54170	0.384000	0.20668	2.699000	0.92147	0.655000	0.94253	CGA	ATP6V1B2	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_bsu		0.373	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B2	HGNC	protein_coding	OTTHUMT00000253732.1	C	NM_001693		20070411	+1	no_errors	ENST00000276390	ensembl	human	known	70_37	nonsense	SNP	0.998	T
ATP6V1C2	245973	genome.wustl.edu	37	2	10914999	10914999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:10914999G>T	ENST00000272238.4	+	9	833	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	ATP6V1C2_ENST00000381661.3_Nonsense_Mutation_p.E242*	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	242					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CAAGGCCAAAGAAAACAAGTA	0.478																																					NSCLC(188;1042 2136 10807 16813 47705)												0													94.0	102.0	99.0					2																	10914999		2203	4300	6503	SO:0001587	stop_gained	245973			AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.724G>T	2.37:g.10914999G>T	ENSP00000272238:p.Glu242*		Q96EL8	Nonsense_Mutation	SNP	pfam_ATPase_V1-cplx_csu	p.E242*	ENST00000272238.4	37	c.724	CCDS42653.1	2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566990	0.86439	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	.	.	.	5.79	5.79	0.91817	.	0.052582	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-0.5936	20.0407	0.97588	0.0:0.0:1.0:0.0	.	.	.	.	X	242	.	ENSP00000272238:E242X	E	+	1	0	ATP6V1C2	10832450	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	7.876000	0.87215	2.746000	0.94184	0.561000	0.74099	GAA	ATP6V1C2	-	pfam_ATPase_V1-cplx_csu		0.478	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ATP6V1C2	HGNC	protein_coding	OTTHUMT00000323555.1	G	NM_144583		10914999	+1	no_errors	ENST00000272238	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ATP8B1	5205	genome.wustl.edu	37	18	55362544	55362544	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:55362544C>A	ENST00000283684.4	-	9	798	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Nonsense_Mutation_p.E267*|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000589147.1_5'Flank			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	267					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTATTGGGTTCTTCACATTCA	0.299																																																	0													73.0	72.0	73.0					18																	55362544		2203	4299	6502	SO:0001587	stop_gained	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.799G>T	18.37:g.55362544C>A	ENSP00000283684:p.Glu267*		Q9BTP8	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E267*	ENST00000283684.4	37	c.799	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	C	38	6.828956	0.97869	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	.	.	.	5.91	5.91	0.95273	.	0.096802	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.8936	0.96942	0.0:1.0:0.0:0.0	.	.	.	.	X	267	.	ENSP00000283684:E267X	E	-	1	0	ATP8B1	53513542	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.041000	0.70988	2.793000	0.96121	0.655000	0.94253	GAA	ATP8B1	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.299	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	C	NM_005603		55362544	-1	no_errors	ENST00000283684	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ATP8B2	57198	genome.wustl.edu	37	1	154319136	154319136	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154319136T>A	ENST00000368489.3	+	26	3164	c.3164T>A	c.(3163-3165)tTc>tAc	p.F1055Y		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1041					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCAACCACTTCTTCATCTGG	0.542																																																	0													223.0	156.0	179.0					1																	154319136		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3164T>A	1.37:g.154319136T>A	ENSP00000357475:p.Phe1055Tyr		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.F1055Y	ENST00000368489.3	37	c.3164	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852233	0.71719	.	.	ENSG00000143515	ENST00000368489	T	0.58797	0.31	4.85	4.85	0.62838	.	0.160117	0.44688	D	0.000432	T	0.71492	0.3346	M	0.92317	3.295	0.80722	D	1	D	0.55172	0.97	P	0.58172	0.834	T	0.77213	-0.2670	10	0.44086	T	0.13	.	13.4115	0.60946	0.0:0.0:0.0:1.0	.	1055	P98198-3	.	Y	1055	ENSP00000357475:F1055Y	ENSP00000357475:F1055Y	F	+	2	0	ATP8B2	152585760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.864000	0.87037	2.032000	0.59987	0.533000	0.62120	TTC	ATP8B2	-	tigrfam_ATPase_P-typ_Plipid-transl		0.542	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	T	NM_020452		154319136	+1	no_errors	ENST00000368489	ensembl	human	known	70_37	missense	SNP	1.000	A
ATRNL1	26033	genome.wustl.edu	37	10	117228760	117228760	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:117228760A>C	ENST00000355044.3	+	24	3701	c.3575A>C	c.(3574-3576)gAa>gCa	p.E1192A	ATRNL1_ENST00000423111.2_Missense_Mutation_p.E243A|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1192					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTTCCTATGAAAAATTTAAC	0.294																																																	0													39.0	43.0	42.0					10																	117228760		2191	4267	6458	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3575A>C	10.37:g.117228760A>C	ENSP00000347152:p.Glu1192Ala		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.E1192A	ENST00000355044.3	37	c.3575	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258354	0.59321	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.56444	0.46;0.46	5.47	5.47	0.80525	.	0.092232	0.64402	D	0.000001	T	0.63058	0.2479	L	0.39633	1.23	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.73380	0.874;0.98	T	0.59289	-0.7482	10	0.27785	T	0.31	-20.879	15.5548	0.76184	1.0:0.0:0.0:0.0	.	243;1192	B4DH41;Q5VV63	.;ATRN1_HUMAN	A	1192;243	ENSP00000347152:E1192A;ENSP00000409624:E243A	ENSP00000347152:E1192A	E	+	2	0	ATRNL1	117218750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.279000	0.95777	2.077000	0.62373	0.477000	0.44152	GAA	ATRNL1	-	NULL		0.294	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	A	XM_049349		117228760	+1	no_errors	ENST00000355044	ensembl	human	known	70_37	missense	SNP	1.000	C
ATXN3L	92552	genome.wustl.edu	37	X	13337013	13337013	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:13337013C>A	ENST00000380622.2	-	1	1505	c.1041G>T	c.(1039-1041)aaG>aaT	p.K347N	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	347					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTTTCAAATTCTTTCTCATAA	0.353																																																	0													115.0	104.0	108.0					X																	13337013		1568	3582	5150	SO:0001583	missense	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.1041G>T	X.37:g.13337013C>A	ENSP00000369996:p.Lys347Asn		B2RNY8	Missense_Mutation	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.K347N	ENST00000380622.2	37	c.1041	CCDS48080.1	X	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.416573	0.00013	.	.	ENSG00000123594	ENST00000380622	T	0.15256	2.44	0.793	-1.59	0.08453	.	0.448244	0.24141	N	0.041176	T	0.02970	0.0088	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24941	-1.0146	9	0.02654	T	1	.	.	.	.	.	347	Q9H3M9	ATX3L_HUMAN	N	347	ENSP00000369996:K347N	ENSP00000369996:K347N	K	-	3	2	ATXN3L	13246934	0.723000	0.28027	0.004000	0.12327	0.001000	0.01503	0.033000	0.13754	-1.593000	0.01617	-1.569000	0.00873	AAG	ATXN3L	-	NULL		0.353	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	C	NM_001135995		13337013	-1	no_errors	ENST00000380622	ensembl	human	known	70_37	missense	SNP	0.005	A
DQX1	165545	genome.wustl.edu	37	2	74755126	74755126	+	5'Flank	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:74755126G>A	ENST00000404568.3	-	0	0				DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.R227C	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.R227C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGAACAGGACGAAGCCACCTG	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)											108.0	111.0	110.0					2																	74755126		1976	4167	6143	SO:0001631	upstream_gene_variant	550			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74755126G>A	Exception_encountered		Q6B017|Q8NAM8	Missense_Mutation	SNP	pfam_CUE,smart_CUE,pfscan_CUE	p.R227C	ENST00000404568.3	37	c.679	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630767	0.46944	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	D	0.93488	-3.23	4.9	4.9	0.64082	.	0.552015	0.18698	N	0.133668	D	0.83830	0.5339	N	0.08118	0	0.25282	N	0.989427	P;P;P	0.46327	0.876;0.705;0.77	B;B;B	0.39152	0.183;0.01;0.292	T	0.78663	-0.2116	10	0.72032	D	0.01	1.282	9.0626	0.36444	0.0973:0.0:0.9027:0.0	.	284;293;227	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	C	227;291;229	ENSP00000366748:R227C	ENSP00000258081:R291C	R	-	1	0	AUP1	74608634	1.000000	0.71417	0.869000	0.34112	0.987000	0.75469	6.093000	0.71422	2.552000	0.86080	0.563000	0.77884	CGT	AUP1	-	NULL		0.577	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUP1	HGNC	protein_coding	OTTHUMT00000252230.3	G	NM_133637		74755126	-1	no_errors	ENST00000377526	ensembl	human	known	70_37	missense	SNP	0.764	A
AXL	558	genome.wustl.edu	37	19	41745213	41745213	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:41745213C>T	ENST00000301178.4	+	9	1469	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	AXL_ENST00000593513.1_Missense_Mutation_p.R159C|AXL_ENST00000359092.3_Missense_Mutation_p.R427C	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	427	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGGCCTGGCGCCCAGGTAA	0.592																																																	0													93.0	86.0	88.0					19																	41745213		2203	4299	6502	SO:0001583	missense	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1279C>T	19.37:g.41745213C>T	ENSP00000301178:p.Arg427Cys		Q8N5L2|Q9UD27	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R427C	ENST00000301178.4	37	c.1279	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	c	16.31	3.086560	0.55861	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75477	-0.94;-0.87	4.58	2.32	0.28847	Fibronectin, type III (2);	0.322180	0.27613	N	0.018598	T	0.67059	0.2853	L	0.40543	1.245	0.31049	N	0.715462	D;D	0.56287	0.975;0.958	P;B	0.48030	0.564;0.361	T	0.69566	-0.5111	10	0.56958	D	0.05	-3.1275	8.3142	0.32091	0.1782:0.6671:0.1547:0.0	.	427;427	P30530-2;P30530	.;UFO_HUMAN	C	427	ENSP00000301178:R427C;ENSP00000351995:R427C	ENSP00000301178:R427C	R	+	1	0	AXL	46437053	0.766000	0.28496	1.000000	0.80357	0.881000	0.50899	0.495000	0.22483	2.107000	0.64212	0.379000	0.24179	CGC	AXL	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.592	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	C			41745213	+1	no_errors	ENST00000301178	ensembl	human	known	70_37	missense	SNP	0.936	T
AXL	558	genome.wustl.edu	37	19	41765754	41765754	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:41765754C>A	ENST00000301178.4	+	20	2820	c.2630C>A	c.(2629-2631)gCt>gAt	p.A877D	HNRNPUL1_ENST00000595018.1_5'Flank|AXL_ENST00000593513.1_Missense_Mutation_p.A609D|AXL_ENST00000359092.3_Missense_Mutation_p.A868D|HNRNPUL1_ENST00000352456.3_5'Flank	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	877					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCTAGCCCCGCTCAGCCTGCT	0.622																																																	0													34.0	33.0	33.0					19																	41765754		2203	4300	6503	SO:0001583	missense	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2630C>A	19.37:g.41765754C>A	ENSP00000301178:p.Ala877Asp		Q8N5L2|Q9UD27	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A877D	ENST00000301178.4	37	c.2630	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	C	7.540	0.660554	0.14645	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75589	-0.95;-0.9	4.44	3.4	0.38934	.	1.262410	0.05603	N	0.576727	T	0.52484	0.1737	N	0.08118	0	0.09310	N	1	B;B	0.20459	0.045;0.026	B;B	0.17722	0.019;0.008	T	0.44937	-0.9295	10	0.12430	T	0.62	0.178	5.5037	0.16842	0.1958:0.7021:0.0:0.1021	.	868;877	P30530-2;P30530	.;UFO_HUMAN	D	877;868	ENSP00000301178:A877D;ENSP00000351995:A868D	ENSP00000301178:A877D	A	+	2	0	AXL	46457594	0.009000	0.17119	0.035000	0.18076	0.410000	0.31052	1.334000	0.33827	1.085000	0.41206	0.591000	0.81541	GCT	AXL	-	NULL		0.622	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	C			41765754	+1	no_errors	ENST00000301178	ensembl	human	known	70_37	missense	SNP	0.001	A
AZI2	64343	genome.wustl.edu	37	3	28378263	28378263	+	Missense_Mutation	SNP	C	C	T	rs201211825		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:28378263C>T	ENST00000479665.1	-	5	1084	c.553G>A	c.(553-555)Gat>Aat	p.D185N	AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Missense_Mutation_p.D185N|AZI2_ENST00000457172.1_Missense_Mutation_p.D185N|AZI2_ENST00000420543.2_Missense_Mutation_p.D185N	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	185	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						ATTTTGAGATCGCTACATTCT	0.358																																																	0													184.0	170.0	174.0					3																	28378263		2203	4300	6503	SO:0001583	missense	64343			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.553G>A	3.37:g.28378263C>T	ENSP00000419371:p.Asp185Asn		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	NULL	p.D185N	ENST00000479665.1	37	c.553	CCDS2647.1	3	.	.	.	.	.	.	.	.	.	.	C	8.679	0.904642	0.17760	.	.	ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162	.	.	.	5.92	-1.09	0.09904	.	0.572011	0.20016	N	0.101012	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12630	0.003;0.006;0.001;0.001	B;B;B;B	0.08055	0.0;0.003;0.002;0.001	T	0.20306	-1.0279	9	0.20519	T	0.43	-12.3849	5.572	0.17202	0.0:0.2249:0.2742:0.5009	.	185;185;185;185	Q9H6S1-3;C9JB40;C9JVK8;Q9H6S1	.;.;.;AZI2_HUMAN	N	185	.	ENSP00000335609:D185N	D	-	1	0	AZI2	28353267	0.005000	0.15991	0.100000	0.21137	0.897000	0.52465	0.042000	0.13949	0.108000	0.17862	0.650000	0.86243	GAT	AZI2	-	NULL		0.358	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000252998.2	C	NM_203326		28378263	-1	no_errors	ENST00000479665	ensembl	human	known	70_37	missense	SNP	0.001	T
B3GALNT2	148789	genome.wustl.edu	37	1	235613545	235613545	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:235613545A>C	ENST00000366600.3	-	12	1707	c.1479T>G	c.(1477-1479)gaT>gaG	p.D493E		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	493					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			ATCGACAAGGATCACCGCACC	0.498																																																	0													137.0	124.0	128.0					1																	235613545		2203	4300	6503	SO:0001583	missense	148789			BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.1479T>G	1.37:g.235613545A>C	ENSP00000355559:p.Asp493Glu		Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.D493E	ENST00000366600.3	37	c.1479	CCDS1606.1	1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.853193	0.71719	.	.	ENSG00000162885	ENST00000366600	T	0.58210	0.35	5.34	-4.45	0.03546	.	0.188457	0.56097	D	0.000034	T	0.45296	0.1335	L	0.56769	1.78	0.80722	D	1	P	0.48911	0.917	B	0.43575	0.424	T	0.52373	-0.8584	10	0.32370	T	0.25	-26.2828	14.3025	0.66362	0.7365:0.0:0.2635:0.0	.	493	Q8NCR0	B3GL2_HUMAN	E	493	ENSP00000355559:D493E	ENSP00000355559:D493E	D	-	3	2	B3GALNT2	233680168	0.228000	0.23718	0.094000	0.20943	0.078000	0.17371	-0.374000	0.07484	-0.830000	0.04262	-0.371000	0.07208	GAT	B3GALNT2	-	NULL		0.498	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALNT2	HGNC	protein_coding	OTTHUMT00000097376.1	A	NM_152490		235613545	-1	no_errors	ENST00000366600	ensembl	human	known	70_37	missense	SNP	0.953	C
B3GALTL	145173	genome.wustl.edu	37	13	31850910	31850910	+	Splice_Site	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:31850910T>C	ENST00000343307.4	+	10	999		c.e10+2		B3GALTL_ENST00000461652.2_Splice_Site	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like						fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GTGACAGAAGTATGTTTTGGG	0.303																																																	0													134.0	145.0	141.0					13																	31850910		2203	4300	6503	SO:0001630	splice_region_variant	145173			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.850+2T>C	13.37:g.31850910T>C			A8K5F8|Q5W0H2|Q6NUI3	Splice_Site	SNP	-	e10+2	ENST00000343307.4	37	c.850+2	CCDS9341.1	13	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063167	0.76187	.	.	ENSG00000187676	ENST00000343307	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3615	0.74478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	B3GALTL	30748910	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.033000	0.70925	2.268000	0.75426	0.455000	0.32223	.	B3GALTL	-	-		0.303	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALTL	HGNC	protein_coding	OTTHUMT00000044396.3	T	NM_194318	Intron	31850910	+1	no_errors	ENST00000343307	ensembl	human	known	70_37	splice_site	SNP	1.000	C
B3GNT3	10331	genome.wustl.edu	37	19	17919003	17919003	+	Silent	SNP	G	G	A	rs577972524	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:17919003G>A	ENST00000318683.6	+	2	534	c.387G>A	c.(385-387)acG>acA	p.T129T	B3GNT3_ENST00000595387.1_Silent_p.T129T	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	129					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TGCGGCGCACGTGGGGCCGCG	0.682																																																	0													20.0	23.0	22.0					19																	17919003		2197	4292	6489	SO:0001819	synonymous_variant	10331			AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.387G>A	19.37:g.17919003G>A			B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	pfam_Glyco_trans_31	p.T129	ENST00000318683.6	37	c.387	CCDS12364.1	19																																																																																			B3GNT3	-	pfam_Glyco_trans_31		0.682	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT3	HGNC	protein_coding	OTTHUMT00000466877.1	G	NM_014256		17919003	+1	no_errors	ENST00000318683	ensembl	human	known	70_37	silent	SNP	0.870	A
B4GALNT3	283358	genome.wustl.edu	37	12	667745	667745	+	Silent	SNP	G	G	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:667745G>C	ENST00000266383.5	+	18	2692	c.2679G>C	c.(2677-2679)cgG>cgC	p.R893R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	893					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATGCCATTCGGAAGCACTGTG	0.607																																																	0													169.0	134.0	146.0					12																	667745		2203	4300	6503	SO:0001819	synonymous_variant	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2679G>C	12.37:g.667745G>C			Q6ZNC1|Q8N7T6	Silent	SNP	pfam_PA14,pfam_Chond_GalNAc,smart_PA14	p.R893	ENST00000266383.5	37	c.2679	CCDS8504.1	12																																																																																			B4GALNT3	-	pfam_Chond_GalNAc		0.607	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	HGNC	protein_coding	OTTHUMT00000251406.2	G	NM_173593		667745	+1	no_errors	ENST00000266383	ensembl	human	known	70_37	silent	SNP	1.000	C
B4GALT6	9331	genome.wustl.edu	37	18	29218714	29218714	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:29218714G>T	ENST00000306851.5	-	5	777	c.481C>A	c.(481-483)Ctc>Atc	p.L161I	B4GALT6_ENST00000237019.7_Missense_Mutation_p.L122I|B4GALT6_ENST00000383131.3_Intron	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	161					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AAAGGAATGAGAACTGCCACC	0.358																																																	0													73.0	72.0	72.0					18																	29218714		2203	4300	6503	SO:0001583	missense	9331			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.481C>A	18.37:g.29218714G>T	ENSP00000306459:p.Leu161Ile		O60514|Q6NT09	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.L161I	ENST00000306851.5	37	c.481	CCDS11900.1	18	.	.	.	.	.	.	.	.	.	.	G	4.776	0.144339	0.09134	.	.	ENSG00000118276	ENST00000306851;ENST00000237019	T;T	0.22539	1.95;1.95	5.78	5.78	0.91487	.	0.084341	0.50627	D	0.000107	T	0.12987	0.0315	N	0.20881	0.62	0.80722	D	1	B;B	0.15141	0.01;0.012	B;B	0.27170	0.045;0.077	T	0.07083	-1.0791	10	0.02654	T	1	-0.8201	10.598	0.45349	0.0698:0.0:0.7961:0.1341	.	122;161	G3XA83;Q9UBX8	.;B4GT6_HUMAN	I	161;122	ENSP00000306459:L161I;ENSP00000237019:L122I	ENSP00000237019:L122I	L	-	1	0	B4GALT6	27472712	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.146000	0.58072	2.737000	0.93849	0.563000	0.77884	CTC	B4GALT6	-	pfam_Galactosyl_T_2_met		0.358	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT6	HGNC	protein_coding	OTTHUMT00000254942.2	G	NM_004775		29218714	-1	no_errors	ENST00000306851	ensembl	human	known	70_37	missense	SNP	1.000	T
BAI2	576	genome.wustl.edu	37	1	32207497	32207497	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:32207497G>A	ENST00000373658.3	-	9	1830	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C	BAI2_ENST00000398538.1_Missense_Mutation_p.R485C|BAI2_ENST00000527361.1_Missense_Mutation_p.R497C|BAI2_ENST00000440175.2_Missense_Mutation_p.R139C|BAI2_ENST00000398547.1_Missense_Mutation_p.R430C|BAI2_ENST00000373655.2_Missense_Mutation_p.R497C|BAI2_ENST00000398556.3_Missense_Mutation_p.R445C|BAI2_ENST00000257070.4_Missense_Mutation_p.R497C|BAI2_ENST00000398542.1_Missense_Mutation_p.R430C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	497	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGGAAGCGGCGCTGCCAGCCT	0.627																																																	0													59.0	61.0	61.0					1																	32207497		2203	4300	6503	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1489C>T	1.37:g.32207497G>A	ENSP00000362762:p.Arg497Cys		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R497C	ENST00000373658.3	37	c.1489	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282317	0.80692	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	4.95	4.95	0.65309	.	0.000000	0.39210	N	0.001429	T	0.70587	0.3241	M	0.85945	2.785	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.994;0.994;0.99;0.993;0.993;0.998;0.993	T	0.75611	-0.3258	10	0.87932	D	0	.	13.0323	0.58848	0.0:0.0:0.8381:0.1619	.	430;497;485;139;430;497;497	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	C	445;430;497;497;430;497;497;139;485;435;476	ENSP00000381564:R445C;ENSP00000381555:R430C;ENSP00000362762:R497C;ENSP00000362759:R497C;ENSP00000381550:R430C;ENSP00000257070:R497C;ENSP00000435397:R497C;ENSP00000391071:R139C;ENSP00000381548:R485C;ENSP00000410921:R435C;ENSP00000437219:R476C	ENSP00000257070:R497C	R	-	1	0	BAI2	31980084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.648000	0.54410	2.457000	0.83068	0.561000	0.74099	CGC	BAI2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.627	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	G	NM_001703		32207497	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	1.000	A
BAI3	577	genome.wustl.edu	37	6	69348868	69348868	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:69348868C>A	ENST00000370598.1	+	3	1122	c.301C>A	c.(301-303)Ctt>Att	p.L101I		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	101	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATAAAGGATCTTTTAAGAAA	0.308																																																	0													41.0	46.0	44.0					6																	69348868		2200	4297	6497	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.301C>A	6.37:g.69348868C>A	ENSP00000359630:p.Leu101Ile		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.L101I	ENST00000370598.1	37	c.301	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755347	0.49362	.	.	ENSG00000135298	ENST00000370598	T	0.51071	0.72	5.32	5.32	0.75619	CUB (1);	0.183972	0.34879	N	0.003601	T	0.53802	0.1819	L	0.40543	1.245	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.55412	-0.8145	10	0.62326	D	0.03	.	19.3677	0.94471	0.0:1.0:0.0:0.0	.	101	O60242	BAI3_HUMAN	I	101	ENSP00000359630:L101I	ENSP00000359630:L101I	L	+	1	0	BAI3	69405589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.538000	0.60650	2.634000	0.89283	0.655000	0.94253	CTT	BAI3	-	pfscan_CUB		0.308	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	C			69348868	+1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	A
BANK1	55024	genome.wustl.edu	37	4	102839164	102839164	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:102839164G>T	ENST00000322953.4	+	7	1298	c.1024G>T	c.(1024-1026)Gaa>Taa	p.E342*	BANK1_ENST00000508653.1_Nonsense_Mutation_p.E209*|BANK1_ENST00000504592.1_Nonsense_Mutation_p.E327*|BANK1_ENST00000428908.1_Nonsense_Mutation_p.E209*|BANK1_ENST00000444316.2_Nonsense_Mutation_p.E312*	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	342					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCATTTCAAAGAACTTCCAAC	0.363																																																	0													93.0	91.0	92.0					4																	102839164		2203	4300	6503	SO:0001587	stop_gained	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1024G>T	4.37:g.102839164G>T	ENSP00000320509:p.Glu342*		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Nonsense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.E342*	ENST00000322953.4	37	c.1024	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.036879	0.97226	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	.	.	.	4.65	4.65	0.58169	.	0.237376	0.32518	N	0.005994	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0899	0.72185	0.0:0.0:1.0:0.0	.	.	.	.	X	327;342;209;209;312	.	ENSP00000320509:E342X	E	+	1	0	BANK1	103058187	1.000000	0.71417	0.544000	0.28141	0.720000	0.41350	3.716000	0.54904	2.404000	0.81709	0.650000	0.86243	GAA	BANK1	-	NULL		0.363	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	G	NM_017935		102839164	+1	no_errors	ENST00000322953	ensembl	human	known	70_37	nonsense	SNP	0.964	T
BAZ2A	11176	genome.wustl.edu	37	12	57005692	57005692	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:57005692T>C	ENST00000551812.1	-	6	1673	c.1480A>G	c.(1480-1482)Aaa>Gaa	p.K494E	BAZ2A_ENST00000549884.1_Missense_Mutation_p.K492E|BAZ2A_ENST00000179765.5_Missense_Mutation_p.K462E|BAZ2A_ENST00000379441.3_Missense_Mutation_p.K464E	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	494					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K494Q(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGAGAGGCTTTTGGGGATGTC	0.542																																																	2	Substitution - Missense(2)	large_intestine(2)											49.0	52.0	51.0					12																	57005692		1944	4154	6098	SO:0001583	missense	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1480A>G	12.37:g.57005692T>C	ENSP00000446880:p.Lys494Glu		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.K494E	ENST00000551812.1	37	c.1480	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	T	11.28	1.590744	0.28357	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.64991	-0.12;-0.12;-0.13;-0.13	5.09	2.68	0.31781	.	0.750279	0.12806	N	0.437571	T	0.32041	0.0816	N	0.08118	0	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.22601	0.04;0.018	T	0.25187	-1.0139	10	0.07990	T	0.79	.	1.5553	0.02583	0.1607:0.0959:0.2651:0.4783	.	492;494	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	E	464;462;494;492	ENSP00000368754:K464E;ENSP00000179765:K462E;ENSP00000446880:K494E;ENSP00000447941:K492E	ENSP00000179765:K462E	K	-	1	0	BAZ2A	55291959	0.005000	0.15991	0.192000	0.23308	0.817000	0.46193	0.445000	0.21677	0.944000	0.37579	0.459000	0.35465	AAA	BAZ2A	-	NULL		0.542	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	T	NM_013449		57005692	-1	no_errors	ENST00000551812	ensembl	human	known	70_37	missense	SNP	0.022	C
BAZ2B	29994	genome.wustl.edu	37	2	160206467	160206467	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:160206467A>C	ENST00000392783.2	-	28	5110	c.4615T>G	c.(4615-4617)Ttc>Gtc	p.F1539V	BAZ2B_ENST00000343439.5_Missense_Mutation_p.F1439V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.F1505V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.F1503V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GGACTGTAGAACTTCCCTGGA	0.438																																																	0													157.0	152.0	153.0					2																	160206467		2020	4174	6194	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4615T>G	2.37:g.160206467A>C	ENSP00000376534:p.Phe1539Val		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.F1539V	ENST00000392783.2	37	c.4615	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556072	0.27827	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.56611	0.53;0.52;0.53;0.45	6.17	6.17	0.99709	.	0.000000	0.38436	U	0.001695	T	0.48840	0.1522	M	0.63428	1.95	0.45747	D	0.998647	B;B	0.33637	0.42;0.016	B;B	0.28465	0.09;0.004	T	0.45571	-0.9252	10	0.15952	T	0.53	-7.877	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1503;1539	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	V	1503;1539;1505;1439	ENSP00000376533:F1503V;ENSP00000376534:F1539V;ENSP00000348087:F1505V;ENSP00000339670:F1439V	ENSP00000339670:F1439V	F	-	1	0	BAZ2B	159914713	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.068000	0.64364	2.371000	0.80710	0.533000	0.62120	TTC	BAZ2B	-	NULL		0.438	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	A			160206467	-1	no_errors	ENST00000392783	ensembl	human	known	70_37	missense	SNP	1.000	C
BBS10	79738	genome.wustl.edu	37	12	76740306	76740306	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:76740306A>C	ENST00000393262.3	-	2	1542	c.1459T>G	c.(1459-1461)Tta>Gta	p.L487V		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	487					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TGTACTTTTAAATATGTTTGA	0.363									Bardet-Biedl syndrome																																								0													101.0	101.0	101.0					12																	76740306		2203	4300	6503	SO:0001583	missense	79738	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1459T>G	12.37:g.76740306A>C	ENSP00000376946:p.Leu487Val		Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.L487V	ENST00000393262.3	37	c.1459	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	A	7.116	0.577085	0.13686	.	.	ENSG00000179941	ENST00000393262	D	0.88201	-2.35	4.56	1.93	0.25924	.	0.234157	0.22091	N	0.064751	T	0.82268	0.5000	L	0.59436	1.845	0.09310	N	1	B	0.21225	0.053	B	0.22152	0.038	T	0.69124	-0.5228	10	0.38643	T	0.18	-1.5981	0.9077	0.01288	0.472:0.1776:0.1047:0.2456	.	487	Q8TAM1	BBS10_HUMAN	V	487	ENSP00000376946:L487V	ENSP00000376946:L487V	L	-	1	2	BBS10	75264437	0.189000	0.23263	0.220000	0.23810	0.488000	0.33401	2.717000	0.47227	0.249000	0.21456	0.459000	0.35465	TTA	BBS10	-	superfamily_Cpn60/TCP-1		0.363	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	A	NM_024685		76740306	-1	no_errors	ENST00000393262	ensembl	human	known	70_37	missense	SNP	0.044	C
BBS10	79738	genome.wustl.edu	37	12	76740961	76740961	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:76740961A>C	ENST00000393262.3	-	2	887	c.804T>G	c.(802-804)ttT>ttG	p.F268L		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	268					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CAGAAGTGGAAAAAAGAGGCT	0.383									Bardet-Biedl syndrome																																								0													61.0	53.0	56.0					12																	76740961		2203	4300	6503	SO:0001583	missense	79738	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.804T>G	12.37:g.76740961A>C	ENSP00000376946:p.Phe268Leu		Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.F268L	ENST00000393262.3	37	c.804	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	A	1.234	-0.623280	0.03636	.	.	ENSG00000179941	ENST00000393262	T	0.78246	-1.16	5.13	2.72	0.32119	.	0.260252	0.31872	N	0.006939	T	0.59293	0.2183	L	0.41415	1.275	0.09310	N	0.999999	B	0.12013	0.005	B	0.16289	0.015	T	0.42413	-0.9453	10	0.02654	T	1	-11.7139	4.3812	0.11295	0.4528:0.3189:0.2284:0.0	.	268	Q8TAM1	BBS10_HUMAN	L	268	ENSP00000376946:F268L	ENSP00000376946:F268L	F	-	3	2	BBS10	75265092	1.000000	0.71417	0.795000	0.32087	0.694000	0.40290	0.963000	0.29293	0.486000	0.27676	0.528000	0.53228	TTT	BBS10	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1		0.383	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	A	NM_024685		76740961	-1	no_errors	ENST00000393262	ensembl	human	known	70_37	missense	SNP	0.165	C
BBS12	166379	genome.wustl.edu	37	4	123664704	123664704	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:123664704C>A	ENST00000314218.3	+	2	1850	c.1657C>A	c.(1657-1659)Ctt>Att	p.L553I	BBS12_ENST00000542236.1_Missense_Mutation_p.L553I	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	553					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TCTTCATATTCTTGCAGAGCA	0.433									Bardet-Biedl syndrome																																								0													123.0	123.0	123.0					4																	123664704		2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1657C>A	4.37:g.123664704C>A	ENSP00000319062:p.Leu553Ile		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.L553I	ENST00000314218.3	37	c.1657	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	C	6.185	0.402354	0.11696	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.78595	-1.19;-1.19	5.71	3.87	0.44632	.	0.464641	0.23338	N	0.049274	T	0.76435	0.3987	M	0.66939	2.045	0.09310	N	1	B	0.21688	0.059	B	0.24541	0.054	T	0.70371	-0.4890	10	0.62326	D	0.03	-35.44	14.5432	0.68011	0.2903:0.7097:0.0:0.0	.	553	Q6ZW61	BBS12_HUMAN	I	553	ENSP00000319062:L553I;ENSP00000438273:L553I	ENSP00000319062:L553I	L	+	1	0	BBS12	123884154	1.000000	0.71417	0.008000	0.14137	0.012000	0.07955	3.193000	0.50997	1.348000	0.45733	0.591000	0.81541	CTT	BBS12	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1		0.433	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	C	NM_152618		123664704	+1	no_errors	ENST00000314218	ensembl	human	known	70_37	missense	SNP	0.041	A
BCHE	590	genome.wustl.edu	37	3	165548614	165548614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:165548614G>A	ENST00000264381.3	-	2	374	c.208C>T	c.(208-210)Cga>Tga	p.R70*	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	70					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTTTTGAATCGAAGTCTACCA	0.423																																																	0													107.0	104.0	105.0					3																	165548614		2203	4300	6503	SO:0001587	stop_gained	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.208C>T	3.37:g.165548614G>A	ENSP00000264381:p.Arg70*		A8K7P8	Nonsense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.R70*	ENST00000264381.3	37	c.208	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.889332	0.97068	.	.	ENSG00000114200	ENST00000264381	.	.	.	5.67	3.78	0.43462	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0748	0.59081	0.0:0.0:0.426:0.5739	.	.	.	.	X	70	.	ENSP00000264381:R70X	R	-	1	2	BCHE	167031308	0.081000	0.21417	1.000000	0.80357	0.976000	0.68499	0.285000	0.18883	0.663000	0.31027	0.655000	0.94253	CGA	BCHE	-	pfam_CarbesteraseB		0.423	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	G			165548614	-1	no_errors	ENST00000264381	ensembl	human	known	70_37	nonsense	SNP	0.995	A
BCOR	54880	genome.wustl.edu	37	X	39913549	39913549	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:39913549G>A	ENST00000378444.4	-	13	5007	c.4779C>T	c.(4777-4779)gaC>gaT	p.D1593D	BCOR_ENST00000397354.3_Silent_p.D1559D|BCOR_ENST00000378463.1_Silent_p.D436D|BCOR_ENST00000378455.4_Silent_p.D1541D|BCOR_ENST00000342274.4_Silent_p.D1559D	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1593					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGCCACTGGCGTCATCATCAT	0.423			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													59.0	50.0	53.0					X																	39913549		2202	4300	6502	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4779C>T	X.37:g.39913549G>A			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1593	ENST00000378444.4	37	c.4779	CCDS48093.1	X																																																																																			BCOR	-	NULL		0.423	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39913549	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	silent	SNP	0.996	A
BEGAIN	57596	genome.wustl.edu	37	14	101010247	101010247	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:101010247T>G	ENST00000355173.2	-	5	370	c.299A>C	c.(298-300)aAc>aCc	p.N100T	BEGAIN_ENST00000556751.1_Missense_Mutation_p.N36T|BEGAIN_ENST00000443071.2_Missense_Mutation_p.N100T|BEGAIN_ENST00000554747.1_5'Flank	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	100						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CAGATGGCTGTTGAGGGCAAC	0.617																																					NSCLC(159;1889 2010 9965 27479 40101)												0													167.0	94.0	118.0					14																	101010247		2203	4300	6503	SO:0001583	missense	57596			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.299A>C	14.37:g.101010247T>G	ENSP00000347301:p.Asn100Thr		Q9NPU3|Q9P282	Missense_Mutation	SNP	superfamily_Prefoldin	p.N100T	ENST00000355173.2	37	c.299	CCDS9962.1	14	.	.	.	.	.	.	.	.	.	.	t	5.003	0.186183	0.09495	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000554356;ENST00000557378;ENST00000554140	T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.25	4.25	0.50352	.	0.052686	0.85682	D	0.000000	T	0.50837	0.1639	L	0.31526	0.94	0.58432	D	0.999995	D	0.71674	0.998	D	0.81914	0.995	T	0.41431	-0.9509	10	0.07482	T	0.82	.	13.3575	0.60635	0.0:0.0:0.0:1.0	.	100	Q9BUH8	BEGIN_HUMAN	T	100;36;100;112;100;36;100;119	ENSP00000347301:N100T;ENSP00000451380:N36T;ENSP00000411124:N100T;ENSP00000451397:N112T;ENSP00000452157:N100T;ENSP00000452607:N36T;ENSP00000450722:N100T;ENSP00000451125:N119T	ENSP00000347301:N100T	N	-	2	0	BEGAIN	100080000	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	7.642000	0.83385	1.549000	0.49425	0.375000	0.23000	AAC	BEGAIN	-	NULL		0.617	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	HGNC	protein_coding	OTTHUMT00000414329.1	T	NM_020836		101010247	-1	no_errors	ENST00000355173	ensembl	human	known	70_37	missense	SNP	1.000	G
BEST2	54831	genome.wustl.edu	37	19	12865773	12865773	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:12865773C>A	ENST00000549706.1	+	5	888	c.564C>A	c.(562-564)ttC>ttA	p.F188L	BEST2_ENST00000553030.1_Missense_Mutation_p.F188L|BEST2_ENST00000042931.1_Missense_Mutation_p.F188L			Q8NFU1	BEST2_HUMAN	bestrophin 2	188					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCGTCTGGTTCTCCAACCTGG	0.592																																																	0													39.0	47.0	45.0					19																	12865773		2161	4279	6440	SO:0001583	missense	54831			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.564C>A	19.37:g.12865773C>A	ENSP00000448310:p.Phe188Leu		Q53YQ8|Q9NXP0	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.F188L	ENST00000549706.1	37	c.564	CCDS42506.1	19	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797047	0.70567	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98455	-4.94;-4.94;-4.94	3.53	-0.00512	0.14018	.	0.000000	0.64402	D	0.000001	D	0.98544	0.9514	M	0.87097	2.86	0.40824	D	0.983531	D	0.69078	0.997	D	0.74348	0.983	D	0.97855	1.0277	10	0.66056	D	0.02	-21.9322	8.0889	0.30788	0.0:0.5974:0.0:0.4026	.	188	Q8NFU1	BEST2_HUMAN	L	188	ENSP00000448310:F188L;ENSP00000447203:F188L;ENSP00000042931:F188L	ENSP00000042931:F188L	F	+	3	2	BEST2	12726773	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	2.577000	0.46042	0.137000	0.18759	0.313000	0.20887	TTC	BEST2	-	pfam_Bestrophin/UPF0187		0.592	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BEST2	HGNC	protein_coding	OTTHUMT00000403343.1	C	NM_017682		12865773	+1	no_errors	ENST00000042931	ensembl	human	known	70_37	missense	SNP	0.987	A
BIRC2	329	genome.wustl.edu	37	11	102220627	102220627	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:102220627G>A	ENST00000227758.2	+	2	1441	c.42G>A	c.(40-42)tcG>tcA	p.S14S	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Intron|BIRC2_ENST00000532672.1_5'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	14					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)		CAGGTCCCTCGTATCAAAACA	0.373																																																	0													105.0	103.0	104.0					11																	102220627		2203	4299	6502	SO:0001819	synonymous_variant	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.42G>A	11.37:g.102220627G>A			B4E026|Q16516|Q4TTG0	Silent	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.S14	ENST00000227758.2	37	c.42	CCDS8316.1	11																																																																																			BIRC2	-	NULL		0.373	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC2	HGNC	protein_coding	OTTHUMT00000394170.1	G	NM_001166		102220627	+1	no_errors	ENST00000227758	ensembl	human	known	70_37	silent	SNP	0.000	A
BIRC6	57448	genome.wustl.edu	37	2	32694554	32694554	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:32694554G>T	ENST00000421745.2	+	30	6353	c.6219G>T	c.(6217-6219)aaG>aaT	p.K2073N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2073					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAACCCCAAAGATACGGTTAC	0.443																																					Pancreas(94;175 1509 16028 18060 45422)												0													260.0	238.0	245.0					2																	32694554		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6219G>T	2.37:g.32694554G>T	ENSP00000393596:p.Lys2073Asn		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.K2073N	ENST00000421745.2	37	c.6219	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400425	0.62177	.	.	ENSG00000115760	ENST00000421745	T	0.75050	-0.9	5.26	5.26	0.73747	.	0.121588	0.53938	D	0.000045	T	0.74726	0.3754	L	0.47716	1.5	0.49915	D	0.999835	P	0.51791	0.948	P	0.49528	0.614	T	0.76793	-0.2828	10	0.56958	D	0.05	.	14.5744	0.68235	0.0727:0.0:0.9273:0.0	.	2073	Q9NR09	BIRC6_HUMAN	N	2073	ENSP00000393596:K2073N	ENSP00000393596:K2073N	K	+	3	2	BIRC6	32548058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.753000	0.47524	2.638000	0.89438	0.585000	0.79938	AAG	BIRC6	-	NULL		0.443	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	G	NM_016252		32694554	+1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	T
BLNK	29760	genome.wustl.edu	37	10	97956751	97956751	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:97956751G>T	ENST00000224337.5	-	16	1305	c.1164C>A	c.(1162-1164)ttC>ttA	p.F388L	BLNK_ENST00000427367.2_Intron|BLNK_ENST00000371176.2_Missense_Mutation_p.F365L|BLNK_ENST00000413476.2_Intron	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	388	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GCTTATTAAAGAATACAACTA	0.318																																																	0													84.0	87.0	86.0					10																	97956751		2203	4298	6501	SO:0001583	missense	29760			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.1164C>A	10.37:g.97956751G>T	ENSP00000224337:p.Phe388Leu		O75498|O75499|Q2MD49	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.F388L	ENST00000224337.5	37	c.1164	CCDS7446.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052057	0.75960	.	.	ENSG00000095585	ENST00000224337;ENST00000371176	T;T	0.61510	0.1;0.1	5.06	2.0	0.26442	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	N	0.20881	0.62	0.80722	D	1	P;D;P	0.69078	0.905;0.997;0.88	P;D;P	0.83275	0.836;0.996;0.89	T	0.49762	-0.8905	10	0.09590	T	0.72	-13.8309	7.7818	0.29070	0.3572:0.0:0.6428:0.0	.	365;365;388	Q8WV28-2;Q2MD52;Q8WV28	.;.;BLNK_HUMAN	L	388;365	ENSP00000224337:F388L;ENSP00000360218:F365L	ENSP00000224337:F388L	F	-	3	2	BLNK	97946741	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.481000	0.22260	0.555000	0.29079	0.655000	0.94253	TTC	BLNK	-	pfam_SH2,smart_SH2,pfscan_SH2		0.318	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	G	NM_013314		97956751	-1	no_errors	ENST00000224337	ensembl	human	known	70_37	missense	SNP	1.000	T
BMP5	653	genome.wustl.edu	37	6	55739287	55739287	+	Missense_Mutation	SNP	C	C	T	rs144615410		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:55739287C>T	ENST00000370830.3	-	1	1075	c.377G>A	c.(376-378)cGc>cAc	p.R126H	BMP5_ENST00000446683.2_Missense_Mutation_p.R126H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	126					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TAACTGTATGCGACGAGGATA	0.527																																																	0								C	HIS/ARG	0,4406		0,0,2203	138.0	120.0	126.0		377	5.1	0.9	6	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	BMP5	NM_021073.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	126/455	55739287	1,13005	2203	4300	6503	SO:0001583	missense	653				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.377G>A	6.37:g.55739287C>T	ENSP00000359866:p.Arg126His		B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.R126H	ENST00000370830.3	37	c.377	CCDS4958.1	6	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584433	0.46110	0.0	1.16E-4	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.72942	-0.7;-0.33	5.96	5.1	0.69264	Transforming growth factor-beta, N-terminal (1);	0.306471	0.34652	N	0.003797	T	0.33294	0.0858	N	0.08118	0	0.09310	N	0.999999	P;P	0.50272	0.933;0.864	B;B	0.40741	0.339;0.333	T	0.26608	-1.0098	10	0.59425	D	0.04	.	11.1045	0.48194	0.0:0.8599:0.0:0.1401	.	126;126	B4E0Y4;P22003	.;BMP5_HUMAN	H	126	ENSP00000359866:R126H;ENSP00000391818:R126H	ENSP00000359866:R126H	R	-	2	0	BMP5	55847246	0.917000	0.31117	0.877000	0.34402	0.983000	0.72400	1.713000	0.37951	1.533000	0.49186	0.650000	0.86243	CGC	BMP5	-	pfam_TGF-b_N		0.527	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	HGNC	protein_coding	OTTHUMT00000041000.1	C			55739287	-1	no_errors	ENST00000370830	ensembl	human	known	70_37	missense	SNP	0.078	T
BMPR2	659	genome.wustl.edu	37	2	203395585	203395585	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:203395585A>G	ENST00000374580.4	+	8	1575	c.1036A>G	c.(1036-1038)Acc>Gcc	p.T346A	BMPR2_ENST00000374574.2_Missense_Mutation_p.T346A	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AAATGATGGAACCTGTGTTAT	0.403																																																	0													91.0	92.0	92.0					2																	203395585		2203	4300	6503	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1036A>G	2.37:g.203395585A>G	ENSP00000363708:p.Thr346Ala		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T346A	ENST00000374580.4	37	c.1036	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108830	0.37242	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	T;T	0.65178	-0.14;-0.14	5.7	1.96	0.26148	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.248788	0.46442	N	0.000281	T	0.55065	0.1897	M	0.70275	2.135	0.43080	D	0.994733	B;B	0.13145	0.002;0.007	B;B	0.16289	0.003;0.015	T	0.52109	-0.8619	10	0.54805	T	0.06	.	5.1539	0.15025	0.7236:0.0:0.1436:0.1328	.	346;346	Q13161;Q13873	.;BMPR2_HUMAN	A	346	ENSP00000363708:T346A;ENSP00000363702:T346A	ENSP00000363702:T346A	T	+	1	0	BMPR2	203103830	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.527000	0.45615	0.394000	0.25230	-0.403000	0.06358	ACC	BMPR2	-	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		0.403	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	A	NM_001204		203395585	+1	no_errors	ENST00000374580	ensembl	human	known	70_37	missense	SNP	0.998	G
BNC2	54796	genome.wustl.edu	37	9	16552656	16552656	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:16552656C>T	ENST00000380672.4	-	5	598	c.541G>A	c.(541-543)Gca>Aca	p.A181T	BNC2_ENST00000545497.1_Missense_Mutation_p.A86T|BNC2_ENST00000380666.2_Missense_Mutation_p.A181T|BNC2_ENST00000380667.2_Missense_Mutation_p.A114T	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)		ACAGGCACTGCTTGTGTCCCA	0.567																																																	0													137.0	104.0	115.0					9																	16552656		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.541G>A	9.37:g.16552656C>T	ENSP00000370047:p.Ala181Thr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A181T	ENST00000380672.4	37	c.541	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647308	0.87958	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.03745	3.82;3.82;3.82;3.82;3.82	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.996;0.999;0.996;1.0;0.993;0.999	D;D;D;D;D;D;D	0.91635	0.998;0.938;0.994;0.993;0.999;0.977;0.969	T	0.00020	-1.2357	10	0.87932	D	0	-14.6429	20.4366	0.99092	0.0:1.0:0.0:0.0	.	86;114;218;181;7;139;181	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;Q5H9S4;Q6ZN30	.;.;.;.;.;.;BNC2_HUMAN	T	181;138;218;209;114;86;7;181;181	ENSP00000370047:A181T;ENSP00000408370:A138T;ENSP00000370042:A114T;ENSP00000444640:A86T;ENSP00000370041:A181T	ENSP00000370041:A181T	A	-	1	0	BNC2	16542656	1.000000	0.71417	0.935000	0.37517	0.135000	0.20990	7.818000	0.86416	2.837000	0.97791	0.591000	0.81541	GCA	BNC2	-	NULL		0.567	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	C	NM_017637		16552656	-1	no_errors	ENST00000380672	ensembl	human	known	70_37	missense	SNP	1.000	T
BPTF	2186	genome.wustl.edu	37	17	65907913	65907913	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:65907913G>T	ENST00000321892.4	+	13	4352	c.4291G>T	c.(4291-4293)Gat>Tat	p.D1431Y	BPTF_ENST00000335221.5_Missense_Mutation_p.D1431Y|BPTF_ENST00000306378.6_Missense_Mutation_p.D1305Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D1292Y			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1431					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGTGAAGAAGATATGATTGT	0.388																																																	0													102.0	100.0	101.0					17																	65907913		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4291G>T	17.37:g.65907913G>T	ENSP00000315454:p.Asp1431Tyr		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.D1431Y	ENST00000321892.4	37	c.4291		17	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486385	0.26686	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.65178	-0.14;-0.14;-0.14	5.48	4.5	0.54988	.	.	.	.	.	T	0.65719	0.2718	L	0.29908	0.895	0.46167	D	0.998905	D;D	0.71674	0.998;0.986	D;P	0.67382	0.951;0.8	T	0.67654	-0.5615	9	0.87932	D	0	-8.4005	10.3723	0.44062	0.2028:0.0:0.7972:0.0	.	1305;1431	Q12830-2;Q12830-4	.;.	Y	1305;1431;1431	ENSP00000307208:D1305Y;ENSP00000334351:D1431Y;ENSP00000315454:D1431Y	ENSP00000307208:D1305Y	D	+	1	0	BPTF	63338375	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.423000	0.34837	2.565000	0.86533	0.650000	0.86243	GAT	BPTF	-	NULL		0.388	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		G	NM_182641, NM_004459		65907913	+1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	1.000	T
BRCA2	675	genome.wustl.edu	37	13	32912309	32912309	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:32912309T>C	ENST00000380152.3	+	11	4050	c.3817T>C	c.(3817-3819)Ttt>Ctt	p.F1273L	BRCA2_ENST00000544455.1_Missense_Mutation_p.F1273L			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1273					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTTCAATGTTTAAGATAGA	0.274			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													24.0	25.0	24.0					13																	32912309		2201	4290	6491	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3817T>C	13.37:g.32912309T>C	ENSP00000369497:p.Phe1273Leu		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat	p.F1273L	ENST00000380152.3	37	c.3817	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	T	7.472	0.646946	0.14516	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.01165	5.24;5.24	5.51	1.61	0.23674	.	0.570428	0.18100	N	0.151740	T	0.01558	0.0050	M	0.68952	2.095	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.46665	-0.9175	10	0.21014	T	0.42	.	6.278	0.20991	0.2479:0.0675:0.0:0.6845	.	1273	P51587	BRCA2_HUMAN	L	1273	ENSP00000369497:F1273L;ENSP00000439902:F1273L	ENSP00000369497:F1273L	F	+	1	0	BRCA2	31810309	0.001000	0.12720	0.001000	0.08648	0.157000	0.22087	0.467000	0.22035	0.043000	0.15746	0.528000	0.53228	TTT	BRCA2	-	pirsf_BRCA2		0.274	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	T	NM_000059		32912309	+1	no_errors	ENST00000380152	ensembl	human	known	70_37	missense	SNP	0.022	C
BRD3	8019	genome.wustl.edu	37	9	136916715	136916715	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:136916715A>G	ENST00000303407.7	-	4	653	c.468T>C	c.(466-468)ggT>ggC	p.G156G	RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000371834.2_Silent_p.G156G|BRD3_ENST00000357885.2_Silent_p.G156G	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	156					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCGGCTTCCGACCTTTGCCCT	0.587			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													33.0	38.0	36.0					9																	136916715		2203	4300	6503	SO:0001819	synonymous_variant	8019				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.468T>C	9.37:g.136916715A>G			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G156	ENST00000303407.7	37	c.468	CCDS6980.1	9																																																																																			BRD3	-	NULL		0.587	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4	A	NM_007371		136916715	-1	no_errors	ENST00000303407	ensembl	human	known	70_37	silent	SNP	0.999	G
BRD7	29117	genome.wustl.edu	37	16	50353864	50353864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:50353864G>A	ENST00000394688.3	-	16	1993	c.1834C>T	c.(1834-1836)Cga>Tga	p.R612*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.R613*			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	612					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R612*(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATTGCTTTTCGAACTCCATAC	0.418																																																	1	Substitution - Nonsense(1)	large_intestine(1)											104.0	91.0	96.0					16																	50353864		2198	4300	6498	SO:0001587	stop_gained	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1834C>T	16.37:g.50353864G>A	ENSP00000378180:p.Arg612*		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Nonsense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R613*	ENST00000394688.3	37	c.1837	CCDS10742.1	16	.	.	.	.	.	.	.	.	.	.	G	42	9.258548	0.99117	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9653	20.3241	0.98686	0.0:0.0:1.0:0.0	.	.	.	.	X	612;613	.	ENSP00000378180:R612X	R	-	1	2	BRD7	48911365	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	4.385000	0.59613	2.798000	0.96311	0.557000	0.71058	CGA	BRD7	-	NULL		0.418	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3	G	NM_013263		50353864	-1	no_errors	ENST00000394689	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BRF1	2972	genome.wustl.edu	37	14	105693049	105693049	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:105693049C>A	ENST00000546474.1	-	8	15796	c.837G>T	c.(835-837)gaG>gaT	p.E279D	BRF1_ENST00000551787.1_Missense_Mutation_p.E75D|BRF1_ENST00000392557.4_Missense_Mutation_p.E75D|BRF1_ENST00000379937.2_Missense_Mutation_p.E252D|BRF1_ENST00000440513.3_Missense_Mutation_p.E164D|BRF1_ENST00000446501.2_Missense_Mutation_p.E41D|BRF1_ENST00000379932.4_Missense_Mutation_p.E75D|BRF1_ENST00000327359.3_Missense_Mutation_p.E164D	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	279					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCTTCATGAACTCATCAATGG	0.562																																																	0													74.0	71.0	72.0					14																	105693049		2203	4300	6503	SO:0001583	missense	2972			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.837G>T	14.37:g.105693049C>A	ENSP00000448323:p.Glu279Asp		B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB	p.E279D	ENST00000546474.1	37	c.837	CCDS10001.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.92|17.92	3.506293|3.506293	0.64410|0.64410	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000446501;ENST00000551787;ENST00000379932;ENST00000332890;ENST00000327359;ENST00000440513;ENST00000549655;ENST00000552127|ENST00000546417	.|.	.|.	.|.	5.07|5.07	2.89|2.89	0.33648|0.33648	Cyclin-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58892|0.58892	0.2154|0.2154	L|L	0.60845|0.60845	1.875|1.875	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D|.	0.71674|.	0.969;0.997;0.998|.	D;D;D|.	0.69824|.	0.943;0.966;0.925|.	T|T	0.55673|0.55673	-0.8104|-0.8104	9|5	0.72032|.	D|.	0.01|.	.|.	7.3089|7.3089	0.26463|0.26463	0.0:0.7024:0.0:0.2976|0.0:0.7024:0.0:0.2976	.|.	164;252;279|.	F5H5Z7;Q92994-5;Q92994|.	.;.;TF3B_HUMAN|.	D|F	75;252;279;41;75;75;75;164;164;75;75|133	.|.	ENSP00000329029:E164D|.	E|V	-|-	3|1	2|0	BRF1|BRF1	104764094|104764094	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.690000|0.690000	0.40134|0.40134	0.665000|0.665000	0.25083|0.25083	1.155000|1.155000	0.42497|0.42497	0.555000|0.555000	0.69702|0.69702	GAG|GTT	BRF1	-	superfamily_Cyclin-like		0.562	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF1	HGNC	protein_coding	OTTHUMT00000074548.4	C	NM_001519		105693049	-1	no_errors	ENST00000546474	ensembl	human	known	70_37	missense	SNP	1.000	A
BRIP1	83990	genome.wustl.edu	37	17	59934417	59934417	+	Splice_Site	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:59934417A>C	ENST00000259008.2	-	4	647		c.e4+1		BRIP1_ENST00000577598.1_Splice_Site	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1						DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AATATAAATTACCTTGACAAG	0.328			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													211.0	194.0	200.0					17																	59934417		2203	4300	6503	SO:0001630	splice_region_variant	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.379+1T>G	17.37:g.59934417A>C			Q3MJE2|Q8NCI5	Splice_Site	SNP	-	e3+2	ENST00000259008.2	37	c.379+2	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	A	11.51	1.661163	0.29515	.	.	ENSG00000136492	ENST00000259008	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8102	0.52179	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRIP1	57289199	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	4.652000	0.61454	2.101000	0.63845	0.528000	0.53228	.	BRIP1	-	-		0.328	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	A	NM_032043	Intron	59934417	-1	no_errors	ENST00000259008	ensembl	human	known	70_37	splice_site	SNP	1.000	C
BRSK2	9024	genome.wustl.edu	37	11	1459617	1459617	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:1459617T>G	ENST00000528841.1	+	3	652	c.268T>G	c.(268-270)Tat>Gat	p.Y90D	BRSK2_ENST00000308230.5_Missense_Mutation_p.Y90D|BRSK2_ENST00000526678.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000382179.1_Missense_Mutation_p.Y136D|BRSK2_ENST00000531197.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000308219.9_Missense_Mutation_p.Y90D|BRSK2_ENST00000528710.1_Missense_Mutation_p.Y30D			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AAACAAAAAATATTTGTAGGT	0.582																																																	0													84.0	94.0	91.0					11																	1459617		2130	4255	6385	SO:0001583	missense	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.268T>G	11.37:g.1459617T>G	ENSP00000432000:p.Tyr90Asp		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	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.Y136D	ENST00000528841.1	37	c.406	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552769	0.65425	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528596;ENST00000524702;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	2.57	2.57	0.30868	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	0.64402	U	0.000001	T	0.66247	0.2770	L	0.38531	1.155	0.80722	D	1	P;D;P;P;P	0.89917	0.745;1.0;0.534;0.728;0.682	P;D;B;P;P	0.85130	0.662;0.997;0.415;0.598;0.462	T	0.62765	-0.6785	10	0.34782	T	0.22	.	9.7527	0.40485	0.0:0.0:0.0:1.0	.	90;136;90;90;90	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	D	90;90;90;90;90;30;30;30;136	ENSP00000310697:Y90D;ENSP00000431152:Y90D;ENSP00000310805:Y90D;ENSP00000432000:Y90D;ENSP00000433370:Y90D;ENSP00000434075:Y30D;ENSP00000432672:Y30D;ENSP00000433235:Y30D;ENSP00000371614:Y136D	ENSP00000310697:Y90D	Y	+	1	0	BRSK2	1416193	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.575000	0.46025	1.193000	0.43086	0.260000	0.18958	TAT	BRSK2	-	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		0.582	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	T	NM_003957		1459617	+1	no_errors	ENST00000382179	ensembl	human	known	70_37	missense	SNP	1.000	G
BRWD3	254065	genome.wustl.edu	37	X	79991582	79991582	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:79991582A>G	ENST00000373275.4	-	9	1035	c.819T>C	c.(817-819)tgT>tgC	p.C273C		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	273					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						TAGTTGATGGACAAAACTTAA	0.313																																																	0													47.0	43.0	44.0					X																	79991582		2203	4297	6500	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.819T>C	X.37:g.79991582A>G			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.C273	ENST00000373275.4	37	c.819	CCDS14447.1	X																																																																																			BRWD3	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.313	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	A	NM_153252		79991582	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	silent	SNP	1.000	G
BSN	8927	genome.wustl.edu	37	3	49694005	49694005	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:49694005A>G	ENST00000296452.4	+	5	7130	c.7016A>G	c.(7015-7017)gAt>gGt	p.D2339G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2339					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCACCAGCAGATGCTGCTCCT	0.652																																																	0													9.0	10.0	10.0					3																	49694005		2183	4280	6463	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7016A>G	3.37:g.49694005A>G	ENSP00000296452:p.Asp2339Gly		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.D2339G	ENST00000296452.4	37	c.7016	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	A	3.462	-0.109771	0.06924	.	.	ENSG00000164061	ENST00000296452	T	0.17691	2.26	6.06	6.06	0.98353	.	0.960694	0.08730	N	0.902209	T	0.11580	0.0282	N	0.14661	0.345	0.27734	N	0.944714	B	0.02656	0.0	B	0.04013	0.001	T	0.13683	-1.0500	10	0.36615	T	0.2	-2.6094	8.0989	0.30846	0.7272:0.2034:0.0694:0.0	.	2339	Q9UPA5	BSN_HUMAN	G	2339	ENSP00000296452:D2339G	ENSP00000296452:D2339G	D	+	2	0	BSN	49669009	0.135000	0.22499	0.866000	0.34008	0.595000	0.36748	1.619000	0.36965	2.324000	0.78689	0.533000	0.62120	GAT	BSN	-	NULL		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	A	NM_003458		49694005	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.610	G
BSND	7809	genome.wustl.edu	37	1	55465030	55465030	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:55465030C>A	ENST00000371265.4	+	1	425	c.171C>A	c.(169-171)taC>taA	p.Y57*		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	57					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCCAGTGCTACCCCAAGGTAG	0.617																																					Ovarian(191;1657 2078 22894 42033 48899)												0													50.0	45.0	47.0					1																	55465030		2203	4300	6503	SO:0001587	stop_gained	7809			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.171C>A	1.37:g.55465030C>A	ENSP00000360312:p.Tyr57*		Q6NT28	Nonsense_Mutation	SNP	NULL	p.Y57*	ENST00000371265.4	37	c.171	CCDS602.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.133844	0.98085	.	.	ENSG00000162399	ENST00000371265	.	.	.	4.3	2.38	0.29361	.	0.000000	0.48767	D	0.000176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2491	9.2567	0.37588	0.0:0.8158:0.0:0.1842	.	.	.	.	X	57	.	ENSP00000360312:Y57X	Y	+	3	2	BSND	55237618	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.956000	0.40382	0.366000	0.24427	-0.362000	0.07510	TAC	BSND	-	NULL		0.617	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSND	HGNC	protein_coding	OTTHUMT00000022213.4	C	NM_057176		55465030	+1	no_errors	ENST00000371265	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BTBD18	643376	genome.wustl.edu	37	11	57511717	57511717	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:57511717C>A	ENST00000436147.3	-	2	2215	c.2028G>T	c.(2026-2028)gaG>gaT	p.E676D	RP11-691N7.6_ENST00000531074.1_Intron|BTBD18_ENST00000422652.1_Missense_Mutation_p.E676D|TMX2-CTNND1_ENST00000528395.1_Intron			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18	676	Poly-Glu.									endometrium(3)|kidney(1)	4						CCACATCAATCTCTTCCTCTT	0.522																																																	0													100.0	95.0	97.0					11																	57511717		692	1591	2283	SO:0001583	missense	643376				CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203	ENST00000436147.3:c.2028G>T	11.37:g.57511717C>A	ENSP00000397020:p.Glu676Asp			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E676D	ENST00000436147.3	37	c.2028	CCDS44603.1	11	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056114	0.36277	.	.	ENSG00000233436	ENST00000422652;ENST00000436147	D;D	0.84800	-1.9;-1.9	5.53	2.4	0.29515	.	.	.	.	.	T	0.75295	0.3830	L	0.27053	0.805	0.20926	N	0.999821	B	0.22080	0.064	B	0.23275	0.045	T	0.66460	-0.5918	9	0.87932	D	0	.	7.1213	0.25446	0.3021:0.617:0.0:0.0809	.	676	B2RXH4	BTBDI_HUMAN	D	676	ENSP00000394472:E676D;ENSP00000397020:E676D	ENSP00000394472:E676D	E	-	3	2	BTBD18	57268293	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.053000	0.30442	0.784000	0.33661	0.561000	0.74099	GAG	BTBD18	-	NULL		0.522	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD18	HGNC	protein_coding	OTTHUMT00000393718.2	C	NM_001145101		57511717	-1	no_errors	ENST00000422652	ensembl	human	known	70_37	missense	SNP	1.000	A
BTD	686	genome.wustl.edu	37	3	15672995	15672995	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:15672995T>G	ENST00000303498.5	+	2	153				BTD_ENST00000449107.1_Intron|BTD_ENST00000482824.1_Intron|BTD_ENST00000383778.4_Intron|BTD_ENST00000437172.1_Missense_Mutation_p.L15V	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase						biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GATGAATCATTTAGCAAGGTG	0.308																																																	0																																										SO:0001627	intron_variant	686			AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.45-3936T>G	3.37:g.15672995T>G			A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.L15V	ENST00000303498.5	37	c.43	CCDS2628.1	3	.	.	.	.	.	.	.	.	.	.	T	9.821	1.185845	0.21870	.	.	ENSG00000169814	ENST00000437172	D	0.89485	-2.52	3.12	0.495	0.16890	.	.	.	.	.	T	0.79776	0.4504	.	.	.	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.65368	-0.6185	8	0.42905	T	0.14	.	3.6845	0.08323	0.2226:0.0:0.2305:0.5468	.	15	A6NHF2	.	V	15	ENSP00000400995:L15V	ENSP00000400995:L15V	L	+	1	2	BTD	15647999	0.018000	0.18449	0.083000	0.20561	0.972000	0.66771	0.351000	0.20096	0.099000	0.17552	0.454000	0.30748	TTA	BTD	-	NULL		0.308	BTD-001	KNOWN	basic|CCDS	protein_coding	BTD	HGNC	protein_coding	OTTHUMT00000252103.2	T	NM_000060		15672995	+1	no_errors	ENST00000437172	ensembl	human	putative	70_37	missense	SNP	0.137	G
BTD	686	genome.wustl.edu	37	3	15686343	15686343	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:15686343A>C	ENST00000303498.5	+	4	1089	c.980A>C	c.(979-981)aAt>aCt	p.N327T	BTD_ENST00000449107.1_Missense_Mutation_p.N329T|BTD_ENST00000383778.4_Missense_Mutation_p.N307T|BTD_ENST00000437172.1_Missense_Mutation_p.N329T	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	327	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GACATGGAAAATCCCAAAAGT	0.493																																																	0													60.0	60.0	60.0					3																	15686343		2203	4300	6503	SO:0001583	missense	686			AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.980A>C	3.37:g.15686343A>C	ENSP00000306477:p.Asn327Thr		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.N327T	ENST00000303498.5	37	c.980	CCDS2628.1	3	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.835028	0.00579	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.82	-8.98	0.00754	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (2);	0.642456	0.18120	N	0.151085	T	0.57125	0.2032	N	0.00885	-1.115	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.54754	-0.8246	10	0.02654	T	1	-18.9306	18.5112	0.90917	0.1085:0.1013:0.7901:0.0	.	329;329;327	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	T	329;327;329;307	ENSP00000388212:N329T;ENSP00000306477:N327T;ENSP00000400995:N329T;ENSP00000373288:N307T	ENSP00000306477:N327T	N	+	2	0	BTD	15661347	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	0.404000	0.20999	-1.651000	0.01504	-0.441000	0.05720	AAT	BTD	-	superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase		0.493	BTD-001	KNOWN	basic|CCDS	protein_coding	BTD	HGNC	protein_coding	OTTHUMT00000252103.2	A	NM_000060		15686343	+1	no_errors	ENST00000303498	ensembl	human	known	70_37	missense	SNP	0.000	C
BTG4	54766	genome.wustl.edu	37	11	111367925	111367925	+	Intron	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:111367925A>G	ENST00000356018.2	-	4	710				BTG4_ENST00000525791.1_Missense_Mutation_p.V174A	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4						cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		AAGAACTGGAACACTCTTGAC	0.358																																																	0													97.0	97.0	97.0					11																	111367925		2201	4297	6498	SO:0001627	intron_variant	54766			AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.510+10T>C	11.37:g.111367925A>G			Q8NEH7	Missense_Mutation	SNP	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.V174A	ENST00000356018.2	37	c.521	CCDS8346.1	11	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318106	0.40996	.	.	ENSG00000137707	ENST00000525791	.	.	.	4.51	-2.9	0.05648	.	.	.	.	.	T	0.11793	0.0287	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.29181	-1.0020	7	0.07644	T	0.81	.	0.9353	0.01344	0.3494:0.2948:0.2117:0.1441	.	174	Q8NEH7	.	A	174	.	ENSP00000432018:V174A	V	-	2	0	BTG4	110873135	0.000000	0.05858	0.000000	0.03702	0.328000	0.28507	-0.754000	0.04787	-0.592000	0.05851	0.528000	0.53228	GTT	BTG4	-	NULL		0.358	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTG4	HGNC	protein_coding	OTTHUMT00000391177.1	A			111367925	-1	no_errors	ENST00000525791	ensembl	human	putative	70_37	missense	SNP	0.001	G
C10orf71	118461	genome.wustl.edu	37	10	50531905	50531905	+	Missense_Mutation	SNP	C	C	T	rs201896971		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:50531905C>T	ENST00000374144.3	+	3	1603	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	C10orf71_ENST00000323868.4_Missense_Mutation_p.P439S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	439										endometrium(1)	1						ACATTATGATCCCCCCTTTAA	0.527																																																	0													83.0	88.0	87.0					10																	50531905		2015	4186	6201	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1315C>T	10.37:g.50531905C>T	ENSP00000363259:p.Pro439Ser		A0AVL8	Missense_Mutation	SNP	NULL	p.P439S	ENST00000374144.3	37	c.1315	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	C	7.106	0.575098	0.13623	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.14766	2.48;3.59	5.48	4.56	0.56223	.	0.000000	0.37761	N	0.001956	T	0.08313	0.0207	N	0.25144	0.715	0.34336	D	0.688203	P	0.35628	0.513	B	0.32533	0.147	T	0.32188	-0.9916	10	0.27785	T	0.31	.	8.3164	0.32102	0.1278:0.7323:0.0:0.1399	.	439	Q711Q0-3	.	S	439	ENSP00000318713:P439S;ENSP00000363259:P439S	ENSP00000318713:P439S	P	+	1	0	C10orf71	50201911	0.957000	0.32711	0.267000	0.24556	0.161000	0.22273	2.215000	0.42862	1.288000	0.44600	0.644000	0.83932	CCC	C10orf71	-	NULL		0.527	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	C	NM_199459		50531905	+1	no_errors	ENST00000374144	ensembl	human	known	70_37	missense	SNP	0.903	T
C10orf2	56652	genome.wustl.edu	37	10	102748733	102748733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:102748733C>T	ENST00000311916.2	+	1	951	c.766C>T	c.(766-768)Cga>Tga	p.R256*	MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370234.4_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Nonsense_Mutation_p.R256*|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	256					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GATTAGTCGTCGAGATGCTGA	0.562																																																	0													115.0	102.0	106.0					10																	102748733		2203	4300	6503	SO:0001587	stop_gained	56652			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.766C>T	10.37:g.102748733C>T	ENSP00000309595:p.Arg256*		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Nonsense_Mutation	SNP	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	p.R256*	ENST00000311916.2	37	c.766	CCDS7506.1	10	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977483	0.74360	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	.	.	.	5.54	2.48	0.30137	.	0.246105	0.36167	N	0.002746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-24.9814	15.1495	0.72687	0.4712:0.5288:0.0:0.0	.	.	.	.	X	256	.	ENSP00000309595:R256X	R	+	1	2	C10orf2	102738723	0.030000	0.19436	0.712000	0.30502	0.571000	0.35966	0.316000	0.19469	0.274000	0.22072	-2.048000	0.00412	CGA	C10orf2	-	NULL		0.562	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1	C	NM_021830		102748733	+1	no_errors	ENST00000311916	ensembl	human	known	70_37	nonsense	SNP	0.407	T
LMNTD2	256329	genome.wustl.edu	37	11	556271	556271	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:556271T>G	ENST00000329451.3	-	10	1240	c.1178A>C	c.(1177-1179)aAg>aCg	p.K393T	RP11-496I9.1_ENST00000527113.1_RNA|RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		393	LTD.									NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACCAGCTGCTTCAGCACCAT	0.711																																																	0													7.0	9.0	8.0					11																	556271		1732	3223	4955	SO:0001583	missense	256329																														ENST00000329451.3:c.1178A>C	11.37:g.556271T>G	ENSP00000331167:p.Lys393Thr			Missense_Mutation	SNP	pfam_Lamin_tail_dom	p.K393T	ENST00000329451.3	37	c.1178	CCDS7701.1	11	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962768	0.34659	.	.	ENSG00000185522	ENST00000329451	D	0.98550	-4.99	3.9	-0.0233	0.13944	Intermediate filament, C-terminal (1);	0.676653	0.12171	N	0.493006	D	0.93546	0.7940	L	0.34521	1.04	0.22330	N	0.9992	P	0.38280	0.625	B	0.31390	0.129	D	0.88767	0.3261	10	0.72032	D	0.01	-18.1308	3.0311	0.06107	0.1911:0.3307:0.0:0.4783	.	393	Q8IXW0	CK035_HUMAN	T	393	ENSP00000331167:K393T	ENSP00000331167:K393T	K	-	2	0	C11orf35	546271	0.006000	0.16342	0.972000	0.41901	0.429000	0.31625	-0.520000	0.06252	-0.100000	0.12241	0.397000	0.26171	AAG	C11orf35	-	pfam_Lamin_tail_dom		0.711	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf35	HGNC	protein_coding	OTTHUMT00000254973.2	T			556271	-1	no_errors	ENST00000329451	ensembl	human	known	70_37	missense	SNP	0.976	G
MYRF	745	genome.wustl.edu	37	11	61546342	61546342	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:61546342G>A	ENST00000278836.5	+	14	2109				MYRF_ENST00000265460.5_Intron|TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000389602.4_Intron|MYRF_ENST00000327797.1_Missense_Mutation_p.A320T	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor						central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAGTCTGGGCGCCAAGGAGGC	0.527																																																	0																																										SO:0001627	intron_variant	745				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2013+381G>A	11.37:g.61546342G>A			O43582|Q9P1Q6	Missense_Mutation	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.A320T	ENST00000278836.5	37	c.958	CCDS44622.1	11	.	.	.	.	.	.	.	.	.	.	G	9.448	1.089704	0.20390	.	.	ENSG00000124920	ENST00000327797	T	0.44083	0.93	3.27	-6.55	0.01854	.	.	.	.	.	T	0.26593	0.0650	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26985	-1.0087	6	0.52906	T	0.07	.	0.925	0.01323	0.2333:0.2128:0.3203:0.2336	.	.	.	.	T	320	ENSP00000333261:A320T	ENSP00000333261:A320T	A	+	1	0	C11orf9	61302918	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-2.969000	0.00668	-2.267000	0.00686	-1.263000	0.01449	GCC	C11orf9	-	NULL		0.527	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf9	HGNC	protein_coding	OTTHUMT00000398519.2	G	NM_013279		61546342	+1	no_errors	ENST00000327797	ensembl	human	known	70_37	missense	SNP	0.000	A
COLCA2	120376	genome.wustl.edu	37	11	111179048	111179048	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:111179048C>T	ENST00000398035.2	+	5	1109	c.351C>T	c.(349-351)ctC>ctT	p.L117L	COLCA2_ENST00000526216.1_Silent_p.L117L	NM_001136105.2	NP_001129577.1	A8K830	COLC2_HUMAN	colorectal cancer associated 2	117						cytoplasm (GO:0005737)											TGGATGCTCTCCAGGCAGCAG	0.557																																																	0													96.0	84.0	87.0					11																	111179048		692	1591	2283	SO:0001819	synonymous_variant	120376			BC042557	CCDS44728.1, CCDS73378.1	11q23.1	2013-10-11	2013-08-22	2013-08-22	ENSG00000214290	ENSG00000214290			26978	protein-coding gene	gene with protein product	"""cancer susceptibility candidate 13"""	615694	"""chromosome 11 open reading frame 93"""	C11orf93		21071539	Standard	NM_001271457		Approved	CASC13	uc031qea.1	A8K830	OTTHUMG00000166657	ENST00000398035.2:c.351C>T	11.37:g.111179048C>T			E9PMJ8|Q2TBJ3|V5LD62|V5LDI3|V5LDV1|V5LE09|V5LEU3	Silent	SNP	NULL	p.L117	ENST00000398035.2	37	c.351	CCDS44728.1	11																																																																																			C11orf93	-	NULL		0.557	COLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf93	HGNC	protein_coding	OTTHUMT00000390991.1	C	NM_001136105		111179048	+1	no_errors	ENST00000398035	ensembl	human	known	70_37	silent	SNP	0.003	T
C12orf36	283422	genome.wustl.edu	37	12	13526193	13526193	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:13526193T>G	ENST00000318426.2	-	3	579	c.362A>C	c.(361-363)aAa>aCa	p.K121T	C12orf36_ENST00000531049.1_5'Flank|C12orf36_ENST00000527705.2_Missense_Mutation_p.K121T					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TTCCTCAATTTTCTGCTTCTT	0.423																																																	0													222.0	208.0	213.0					12																	13526193		2203	4300	6503	SO:0001583	missense	283422			AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.362A>C	12.37:g.13526193T>G	ENSP00000443007:p.Lys121Thr			Missense_Mutation	SNP	NULL	p.K121T	ENST00000318426.2	37	c.362		12	.	.	.	.	.	.	.	.	.	.	T	7.812	0.715997	0.15306	.	.	ENSG00000180861	ENST00000318426;ENST00000527705	T;T	0.30182	1.54;1.54	3.96	2.77	0.32553	.	.	.	.	.	T	0.44973	0.1319	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.20174	-1.0283	8	0.87932	D	0	.	6.3675	0.21463	0.2456:0.0:0.0:0.7544	.	121	Q495D7	CL036_HUMAN	T	121	ENSP00000443007:K121T;ENSP00000443346:K121T	ENSP00000443007:K121T	K	-	2	0	C12orf36	13417460	0.061000	0.20836	0.002000	0.10522	0.097000	0.18754	1.459000	0.35234	0.831000	0.34780	0.533000	0.62120	AAA	C12orf36	-	NULL		0.423	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	C12orf36	HGNC	protein_coding	OTTHUMT00000395025.2	T	NM_182558		13526193	-1	no_errors	ENST00000318426	ensembl	human	known	70_37	missense	SNP	0.003	G
C12orf4	57102	genome.wustl.edu	37	12	4627253	4627253	+	Missense_Mutation	SNP	C	C	T	rs532268400		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:4627253C>T	ENST00000261250.3	-	8	1091	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	C12orf4_ENST00000545746.1_Missense_Mutation_p.R335Q	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	335										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TGAATTAATTCGATTATCTAC	0.328													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15414	0.0		0.0	False		,,,				2504	0.0																0													89.0	96.0	93.0					12																	4627253		2203	4300	6503	SO:0001583	missense	57102			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1004G>A	12.37:g.4627253C>T	ENSP00000261250:p.Arg335Gln		D3DUQ8|Q6MZH5	Missense_Mutation	SNP	pfam_DUF2362	p.R335Q	ENST00000261250.3	37	c.1004	CCDS8528.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.377359	0.95945	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000541014	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.79209	0.4407	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.80489	-0.1360	9	0.59425	D	0.04	.	19.3523	0.94393	0.0:1.0:0.0:0.0	.	335	Q9NQ89	CL004_HUMAN	Q	335;335;162	.	ENSP00000261250:R335Q	R	-	2	0	C12orf4	4497514	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.742000	0.85008	2.635000	0.89317	0.650000	0.86243	CGA	C12orf4	-	pfam_DUF2362		0.328	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf4	HGNC	protein_coding	OTTHUMT00000398992.1	C	NM_020374		4627253	-1	no_errors	ENST00000261250	ensembl	human	known	70_37	missense	SNP	1.000	T
SPX	80763	genome.wustl.edu	37	12	21684079	21684079	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:21684079A>C	ENST00000256969.2	+	6	467	c.301A>C	c.(301-303)Aaa>Caa	p.K101Q	C12orf39_ENST00000543800.1_3'UTR	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		101					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGATGAAGAAAAAAACTTTGA	0.289																																																	0													51.0	51.0	51.0					12																	21684079		2201	4294	6495	SO:0001583	missense	80763																														ENST00000256969.2:c.301A>C	12.37:g.21684079A>C	ENSP00000256969:p.Lys101Gln		B3KND6	Missense_Mutation	SNP	NULL	p.K101Q	ENST00000256969.2	37	c.301	CCDS31757.1	12	.	.	.	.	.	.	.	.	.	.	a	11.44	1.638478	0.29157	.	.	ENSG00000134548	ENST00000256969	.	.	.	4.88	3.06	0.35304	.	0.699661	0.14121	N	0.340011	T	0.17450	0.0419	N	0.08118	0	0.19300	N	0.999976	B	0.27416	0.178	B	0.25140	0.058	T	0.21177	-1.0253	9	0.24483	T	0.36	-2.5708	8.078	0.30729	0.1924:0.0:0.8076:0.0	.	101	Q9BT56	SPXN_HUMAN	Q	101	.	ENSP00000256969:K101Q	K	+	1	0	C12orf39	21575346	1.000000	0.71417	0.923000	0.36655	0.812000	0.45895	3.525000	0.53502	0.650000	0.30769	-0.247000	0.11927	AAA	C12orf39	-	NULL		0.289	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf39	HGNC	protein_coding	OTTHUMT00000402389.1	A			21684079	+1	no_errors	ENST00000256969	ensembl	human	known	70_37	missense	SNP	0.837	C
C12orf66	144577	genome.wustl.edu	37	12	64609553	64609553	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:64609553G>T	ENST00000398055.3	-	2	479	c.426C>A	c.(424-426)ttC>ttA	p.F142L	C12orf66_ENST00000311915.8_Missense_Mutation_p.F142L|C12orf66_ENST00000544871.1_Missense_Mutation_p.F89L	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	142										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TCTTCTCATAGAAGTCTGCCA	0.512																																																	0													70.0	69.0	69.0					12																	64609553		1999	4186	6185	SO:0001583	missense	144577				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.426C>A	12.37:g.64609553G>T	ENSP00000381132:p.Phe142Leu		C9JX54|Q8IYA0	Missense_Mutation	SNP	pfam_DUF2003	p.F142L	ENST00000398055.3	37	c.426	CCDS41803.1	12	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669625	0.47677	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.36340	1.26;1.26;1.26	5.95	5.01	0.66863	.	0.098933	0.64402	D	0.000001	T	0.24044	0.0582	N	0.25789	0.76	0.51767	D	0.999938	B;B	0.16603	0.001;0.018	B;B	0.20184	0.002;0.028	T	0.05784	-1.0864	9	.	.	.	-24.1258	10.0498	0.42208	0.071:0.1387:0.7903:0.0	.	89;142	F5H2Q3;Q96MD2	.;CL066_HUMAN	L	142;89;142	ENSP00000311486:F142L;ENSP00000445481:F89L;ENSP00000381132:F142L	.	F	-	3	2	C12orf66	62895820	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.080000	0.57620	2.826000	0.97356	0.491000	0.48974	TTC	C12orf66	-	pfam_DUF2003		0.512	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	G	NM_152440		64609553	-1	no_errors	ENST00000398055	ensembl	human	known	70_37	missense	SNP	1.000	T
CFAP54	144535	genome.wustl.edu	37	12	97102431	97102431	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:97102431A>G	ENST00000524981.4	+	48	6597	c.6574A>G	c.(6574-6576)Aca>Gca	p.T2192A				Q96N23	CL055_HUMAN		0																	AGTTCTGGTTACAATTGGCCA	0.303																																																	0													79.0	81.0	80.0					12																	97102431		2203	4299	6502	SO:0001583	missense	144535																														ENST00000524981.4:c.6574A>G	12.37:g.97102431A>G	ENSP00000431759:p.Thr2192Ala			Missense_Mutation	SNP	NULL	p.T617A	ENST00000524981.4	37	c.1849		12	.	.	.	.	.	.	.	.	.	.	A	14.36	2.510816	0.44660	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.02	0.623	0.17654	.	0.623617	0.14346	N	0.325423	T	0.26521	0.0648	.	.	.	0.09310	N	1	B	0.21606	0.058	B	0.25291	0.059	T	0.17048	-1.0382	8	0.40728	T	0.16	-4.8926	4.6169	0.12432	0.3685:0.156:0.0:0.4755	.	617	Q6ZTY8	CL063_HUMAN	A	2192;617	.	ENSP00000345466:T617A	T	+	1	0	C12orf63	95626562	0.000000	0.05858	0.042000	0.18584	0.897000	0.52465	-0.145000	0.10265	0.723000	0.32274	0.374000	0.22700	ACA	C12orf55	-	NULL		0.303	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	A			97102431	+1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	0.003	G
CFAP54	144535	genome.wustl.edu	37	12	97112265	97112265	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:97112265A>C	ENST00000524981.4	+	49	6792	c.6769A>C	c.(6769-6771)Aaa>Caa	p.K2257Q				Q96N23	CL055_HUMAN		0																	TAATCTTACAAAACTTAAAGA	0.303																																																	0													65.0	68.0	67.0					12																	97112265		2201	4298	6499	SO:0001583	missense	144535																														ENST00000524981.4:c.6769A>C	12.37:g.97112265A>C	ENSP00000431759:p.Lys2257Gln			Missense_Mutation	SNP	NULL	p.K682Q	ENST00000524981.4	37	c.2044		12	.	.	.	.	.	.	.	.	.	.	A	11.71	1.719511	0.30503	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.63	2.1	0.27182	.	0.308893	0.27936	N	0.017246	T	0.29158	0.0725	.	.	.	0.09310	N	1	B	0.22909	0.077	B	0.20767	0.031	T	0.16660	-1.0395	8	0.42905	T	0.14	-6.0827	8.9356	0.35697	0.634:0.366:0.0:0.0	.	682	Q6ZTY8	CL063_HUMAN	Q	2257;682	.	ENSP00000345466:K682Q	K	+	1	0	C12orf63	95636396	0.038000	0.19896	0.001000	0.08648	0.192000	0.23643	1.385000	0.34408	0.197000	0.20387	0.172000	0.16884	AAA	C12orf55	-	NULL		0.303	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	A			97112265	+1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	0.003	C
CFAP54	144535	genome.wustl.edu	37	12	97180567	97180567	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:97180567T>G	ENST00000524981.4	+	62	8593	c.8570T>G	c.(8569-8571)tTc>tGc	p.F2857C				Q96N23	CL055_HUMAN		0																	CTTAAAAAATTCTTACAGCTG	0.353																																																	0																																										SO:0001583	missense	144535																														ENST00000524981.4:c.8570T>G	12.37:g.97180567T>G	ENSP00000431759:p.Phe2857Cys			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.F2857C	ENST00000524981.4	37	c.8570		12	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310405	0.40895	.	.	ENSG00000188596	ENST00000524981	.	.	.	5.93	3.49	0.39957	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	T	0.22347	-1.0219	5	0.38643	T	0.18	.	8.6159	0.33831	0.3066:0.0:0.0:0.6934	.	.	.	.	C	2857	.	ENSP00000431759:F2857C	F	+	2	0	C12orf63	95704698	0.017000	0.18338	0.097000	0.21041	0.796000	0.44982	0.702000	0.25631	0.448000	0.26722	0.482000	0.46254	TTC	C12orf55	-	NULL		0.353	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	T			97180567	+1	no_errors	ENST00000524981	ensembl	human	novel	70_37	missense	SNP	0.198	G
C12orf45	121053	genome.wustl.edu	37	12	105382013	105382013	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:105382013C>T	ENST00000552951.1	+	2	227	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	C12orf45_ENST00000280749.5_Missense_Mutation_p.R62W	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	62										large_intestine(1)|lung(2)	3						TCAAACAGTTCGGATAGAGAG	0.463																																																	0													94.0	86.0	89.0					12																	105382013		1882	4106	5988	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.184C>T	12.37:g.105382013C>T	ENSP00000447057:p.Arg62Trp			Missense_Mutation	SNP	NULL	p.R62W	ENST00000552951.1	37	c.184	CCDS41825.1	12	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554273	0.65425	.	.	ENSG00000151131	ENST00000552951;ENST00000280749	T;T	0.58797	0.98;0.31	4.81	2.99	0.34606	.	0.052532	0.64402	D	0.000001	T	0.72614	0.3482	M	0.80982	2.52	0.43724	D	0.996206	D	0.89917	1.0	D	0.78314	0.991	T	0.72852	-0.4167	10	0.87932	D	0	-27.7342	7.8585	0.29495	0.0:0.8045:0.0:0.1955	.	62	Q8N5I9	CL045_HUMAN	W	62	ENSP00000447057:R62W;ENSP00000280749:R62W	ENSP00000280749:R62W	R	+	1	2	C12orf45	103906143	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	1.351000	0.34022	0.714000	0.32081	0.655000	0.94253	CGG	C12orf45	-	NULL		0.463	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf45	HGNC	protein_coding	OTTHUMT00000406076.1	C	NM_152318		105382013	+1	no_errors	ENST00000552951	ensembl	human	known	70_37	missense	SNP	0.996	T
C14orf37	145407	genome.wustl.edu	37	14	58605625	58605625	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:58605625G>A	ENST00000267485.7	-	2	646	c.452C>T	c.(451-453)gCg>gTg	p.A151V	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	151						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGAAGGAGTCGCAGTGATAGC	0.458																																																	0													53.0	50.0	51.0					14																	58605625		2203	4300	6503	SO:0001583	missense	145407				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.452C>T	14.37:g.58605625G>A	ENSP00000267485:p.Ala151Val		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.A151V	ENST00000267485.7	37	c.452	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	g	11.43	1.636130	0.29068	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.23147	1.92	5.78	1.82	0.25136	.	0.835223	0.10850	N	0.627299	T	0.15392	0.0371	L	0.44542	1.39	0.09310	N	1	B;P;B;B	0.38078	0.36;0.617;0.36;0.36	B;B;B;B	0.26614	0.042;0.071;0.042;0.042	T	0.17107	-1.0380	10	0.31617	T	0.26	-1.4345	4.374	0.11262	0.2575:0.0:0.5891:0.1534	.	189;151;151;151	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	V	151;189	ENSP00000267485:A151V	ENSP00000267485:A151V	A	-	2	0	C14orf37	57675378	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.083000	0.14871	0.061000	0.16311	-0.713000	0.03633	GCG	C14orf37	-	NULL		0.458	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	G	NM_001001872		58605625	-1	no_errors	ENST00000267485	ensembl	human	known	70_37	missense	SNP	0.000	A
C15orf52	388115	genome.wustl.edu	37	15	40633048	40633048	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:40633048A>G	ENST00000559313.1	-	1	120	c.105T>C	c.(103-105)tcT>tcC	p.S35S	C15orf52_ENST00000557973.1_5'UTR|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	35							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		AGAGAATTCCAGAGCAGCCCC	0.672																																																	0													11.0	17.0	15.0					15																	40633048		1857	4105	5962	SO:0001819	synonymous_variant	388115			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.105T>C	15.37:g.40633048A>G			B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Silent	SNP	NULL	p.S35	ENST00000559313.1	37	c.105	CCDS10055.2	15																																																																																			C15orf52	-	NULL		0.672	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2	A	NM_207380		40633048	-1	no_errors	ENST00000559313	ensembl	human	known	70_37	silent	SNP	1.000	G
C15orf52	388115	genome.wustl.edu	37	15	40633088	40633088	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:40633088G>A	ENST00000559313.1	-	1	80	c.65C>T	c.(64-66)gCt>gTt	p.A22V	C15orf52_ENST00000557973.1_5'UTR|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	22							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GAAAGCTGGAGCCACCGGAGC	0.637																																																	0													10.0	15.0	14.0					15																	40633088		1853	4096	5949	SO:0001583	missense	388115			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.65C>T	15.37:g.40633088G>A	ENSP00000453969:p.Ala22Val		B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	NULL	p.A22V	ENST00000559313.1	37	c.65	CCDS10055.2	15	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482157	0.84747	.	.	ENSG00000188549	ENST00000382688	.	.	.	4.97	3.0	0.34707	.	1.037100	0.07719	N	0.943290	T	0.30324	0.0761	L	0.29908	0.895	0.27064	N	0.963488	B	0.27882	0.192	B	0.21708	0.036	T	0.26710	-1.0095	9	0.66056	D	0.02	-0.1697	6.0169	0.19608	0.1048:0.2088:0.6864:0.0	.	22	Q6ZUT6	CO052_HUMAN	V	22	.	ENSP00000372135:A22V	A	-	2	0	C15orf52	38420380	1.000000	0.71417	0.897000	0.35233	0.902000	0.53008	3.099000	0.50267	1.330000	0.45394	0.650000	0.86243	GCT	C15orf52	-	NULL		0.637	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2	G	NM_207380		40633088	-1	no_errors	ENST00000559313	ensembl	human	known	70_37	missense	SNP	0.927	A
C17orf99	100141515	genome.wustl.edu	37	17	76160781	76160781	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:76160781C>A	ENST00000340363.5	+	4	695				C17orf99_ENST00000451352.3_3'UTR	NM_001163075.1	NP_001156547.1	Q6UX52	CQ099_HUMAN	chromosome 17 open reading frame 99							extracellular region (GO:0005576)											GGAGGGAGAGCTGCTGATGGC	0.667																																																	0																																										SO:0001627	intron_variant	100141515			AY358510	CCDS54171.1	17q25.3	2012-10-23			ENSG00000187997	ENSG00000187997			34490	protein-coding gene	gene with protein product							Standard	NM_001163075		Approved	GLPG464, UNQ464	uc002jus.4	Q6UX52	OTTHUMG00000153871	ENST00000340363.5:c.640+336C>A	17.37:g.76160781C>A				RNA	SNP	-	NULL	ENST00000340363.5	37	NULL	CCDS54171.1	17																																																																																			C17orf99	-	-		0.667	C17orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf99	HGNC	protein_coding	OTTHUMT00000332775.1	C	NM_001163075		76160781	+1	no_errors	ENST00000451352	ensembl	human	known	70_37	rna	SNP	0.001	A
C19orf57	79173	genome.wustl.edu	37	19	14000075	14000075	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:14000075C>T	ENST00000586783.1	-	5	1593	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	C19orf57_ENST00000454313.1_Missense_Mutation_p.E532K|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.E532K			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	532					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AAGTCGAGTTCCACAGCTAAA	0.602																																																	0													47.0	49.0	48.0					19																	14000075		2203	4300	6503	SO:0001583	missense	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1594G>A	19.37:g.14000075C>T	ENSP00000465822:p.Glu532Lys		Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	NULL	p.E532K	ENST00000586783.1	37	c.1594		19	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958220	0.53400	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.56941	0.43;0.43	4.99	4.99	0.66335	.	0.152171	0.30732	N	0.008984	T	0.61974	0.2390	L	0.36672	1.1	0.30874	N	0.732127	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.64198	-0.6464	10	0.62326	D	0.03	-18.3245	13.6349	0.62217	0.0:1.0:0.0:0.0	.	532;532	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	K	532	ENSP00000404382:E532K;ENSP00000254336:E532K	ENSP00000254336:E532K	E	-	1	0	C19orf57	13861075	0.968000	0.33430	0.218000	0.23776	0.017000	0.09413	3.511000	0.53400	2.589000	0.87451	0.637000	0.83480	GAA	C19orf57	-	NULL		0.602	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	C	NM_024323		14000075	-1	no_errors	ENST00000454313	ensembl	human	known	70_37	missense	SNP	0.623	T
C1GALT1C1	29071	genome.wustl.edu	37	X	119760958	119760958	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:119760958T>C	ENST00000304661.5	-	2	302	c.64A>G	c.(64-66)Atc>Gtc	p.I22V	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.I22V	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	22					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						AGCATAGTGATCAAAGCACAG	0.368																																																	0													134.0	117.0	123.0					X																	119760958		2202	4299	6501	SO:0001583	missense	29071			AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.64A>G	X.37:g.119760958T>C	ENSP00000304364:p.Ile22Val		A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	NULL	p.I22V	ENST00000304661.5	37	c.64	CCDS14602.1	X	.	.	.	.	.	.	.	.	.	.	T	7.754	0.703899	0.15172	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.40756	1.02;1.02	5.52	4.39	0.52855	.	0.297467	0.37761	N	0.001952	T	0.17789	0.0427	N	0.04880	-0.145	0.33487	D	0.588251	B	0.02656	0.0	B	0.04013	0.001	T	0.17592	-1.0364	9	.	.	.	-9.2839	5.2194	0.15360	0.0:0.2146:0.0:0.7854	.	22	Q96EU7	C1GLC_HUMAN	V	22	ENSP00000304364:I22V;ENSP00000360363:I22V	.	I	-	1	0	C1GALT1C1	119644986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.537000	0.36083	1.835000	0.53391	0.441000	0.28932	ATC	C1GALT1C1	-	NULL		0.368	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1C1	HGNC	protein_coding	OTTHUMT00000058117.1	T	NM_152692		119760958	-1	no_errors	ENST00000304661	ensembl	human	known	70_37	missense	SNP	1.000	C
C1QTNF1	114897	genome.wustl.edu	37	17	77040139	77040139	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:77040139T>C	ENST00000339142.2	+	3	644	c.89T>C	c.(88-90)gTc>gCc	p.V30A	C1QTNF1_ENST00000581774.1_Missense_Mutation_p.V30A|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.V30A|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.V30A|C1QTNF1_ENST00000311661.4_Intron|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.V30A|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.V40A|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.V30A|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.V30A	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	30					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GTGCCCCATGTCCAGGGGGAA	0.657																																																	0													58.0	54.0	55.0					17																	77040139		2203	4300	6503	SO:0001583	missense	114897			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.89T>C	17.37:g.77040139T>C	ENSP00000340864:p.Val30Ala		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.V40A	ENST00000339142.2	37	c.119	CCDS11761.1	17	.	.	.	.	.	.	.	.	.	.	T	0	-2.603130	0.00123	.	.	ENSG00000173918	ENST00000339142;ENST00000354124;ENST00000392444;ENST00000392445	T;T	0.75260	-0.92;-0.92	3.58	-4.53	0.03462	.	1.847300	0.03192	N	0.173535	T	0.50939	0.1645	N	0.19112	0.55	0.09310	N	1	B;B;B	0.15930	0.015;0.001;0.0	B;B;B	0.12156	0.007;0.001;0.001	T	0.45775	-0.9238	10	0.06494	T	0.89	.	3.6919	0.08350	0.4321:0.0:0.2122:0.3557	.	40;40;30	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	A	30;40;30;40	ENSP00000340864:V30A;ENSP00000343230:V40A	ENSP00000340864:V30A	V	+	2	0	C1QTNF1	74551734	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.991000	0.03728	-0.833000	0.04245	-0.444000	0.05651	GTC	C1QTNF1	-	NULL		0.657	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF1	HGNC	protein_coding	OTTHUMT00000437388.2	T	NM_030968		77040139	+1	no_errors	ENST00000354124	ensembl	human	known	70_37	missense	SNP	0.000	C
MFRP	83552	genome.wustl.edu	37	11	119209810	119209810	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:119209810G>T	ENST00000530681.1	-	0	3743				C1QTNF5_ENST00000445041.2_3'UTR|RP11-334E6.10_ENST00000501918.2_RNA|MFRP_ENST00000555262.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR|C1QTNF5_ENST00000528368.1_3'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein						embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		TGCCAGCACAGCACACTCCTC	0.617											OREG0021403	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001624	3_prime_UTR_variant	114902			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.*1859C>A	11.37:g.119209810G>T		1494	B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	RNA	SNP	-	NULL	ENST00000530681.1	37	NULL	CCDS8421.1	11																																																																																			C1QTNF5	-	-		0.617	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C1QTNF5	HGNC	protein_coding	OTTHUMT00000415179.1	G	NM_031433		119209810	-1	no_errors	ENST00000525657	ensembl	human	known	70_37	rna	SNP	0.000	T
C1QTNF9	338872	genome.wustl.edu	37	13	24890012	24890012	+	Intron	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:24890012T>C	ENST00000382071.2	+	2	63				C1QTNF9-AS1_ENST00000449656.1_RNA|RP11-307N16.6_ENST00000382141.4_Intron|C1QTNF9_ENST00000332018.4_Intron			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9							collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CAGGTGTGGGTCTGGGGCAGG	0.527																																																	0																																										SO:0001627	intron_variant	100874232			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.-22-108T>C	13.37:g.24890012T>C			A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	RNA	SNP	-	NULL	ENST00000382071.2	37	NULL	CCDS9306.1	13																																																																																			C1QTNF9-AS1	-	-		0.527	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF9-AS1	HGNC	protein_coding	OTTHUMT00000044177.1	T	NM_178540		24890012	-1	no_errors	ENST00000449656	ensembl	human	putative	70_37	rna	SNP	0.003	C
C1orf101	257044	genome.wustl.edu	37	1	244643083	244643083	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:244643083T>G	ENST00000366534.4	+	5	377	c.323T>G	c.(322-324)gTt>gGt	p.V108G	C1orf101_ENST00000366531.3_5'UTR|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.V108G	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	108						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TACTATAGAGTTAGGTAAGTA	0.294																																																	0													134.0	135.0	134.0					1																	244643083		2202	4297	6499	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.323T>G	1.37:g.244643083T>G	ENSP00000355492:p.Val108Gly		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.V108G	ENST00000366534.4	37	c.323	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	t	12.01	1.809343	0.31961	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042	T;T;T	0.37235	1.25;1.25;1.21	4.27	0.727	0.18254	.	0.690815	0.12518	N	0.461930	T	0.38427	0.1040	L	0.47716	1.5	0.21416	N	0.999699	D;D;D	0.53462	0.96;0.96;0.96	P;P;P	0.52217	0.693;0.693;0.693	T	0.20438	-1.0275	10	0.72032	D	0.01	.	6.5302	0.22322	0.0:0.2712:0.0:0.7288	.	98;108;108	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	G	108;108;108;98	ENSP00000355492:V108G;ENSP00000355491:V108G;ENSP00000395796:V98G	ENSP00000355491:V108G	V	+	2	0	C1orf101	242709706	0.000000	0.05858	0.001000	0.08648	0.504000	0.33889	0.005000	0.13129	0.109000	0.17891	-0.349000	0.07799	GTT	C1orf101	-	NULL		0.294	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	T	NM_173807		244643083	+1	no_errors	ENST00000366534	ensembl	human	known	70_37	missense	SNP	0.001	G
CCDC181	57821	genome.wustl.edu	37	1	169394090	169394090	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:169394090A>C	ENST00000367806.3	-	2	228	c.76T>G	c.(76-78)Tta>Gta	p.L26V	CCDC181_ENST00000367805.3_Missense_Mutation_p.L26V|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Missense_Mutation_p.L26V	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	26						nucleus (GO:0005634)											TCATTAATTAACCACTCCAGG	0.294																																																	0													149.0	142.0	144.0					1																	169394090		2202	4296	6498	SO:0001583	missense	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.76T>G	1.37:g.169394090A>C	ENSP00000356780:p.Leu26Val		O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	NULL	p.L26V	ENST00000367806.3	37	c.76		1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.599037	0.66332	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.50001	0.76;0.77;0.76;0.84	5.46	-0.978	0.10279	.	0.077719	0.51477	D	0.000087	T	0.49592	0.1566	M	0.71581	2.175	0.40473	D	0.980363	D;D;D	0.76494	0.999;0.99;0.99	D;P;P	0.69654	0.965;0.861;0.861	T	0.57388	-0.7820	9	0.72032	D	0.01	-10.1714	11.2574	0.49063	0.5959:0.0:0.4041:0.0	.	26;26;26	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	V	26	ENSP00000356779:L26V;ENSP00000356780:L26V;ENSP00000442297:L26V;ENSP00000411000:L26V	ENSP00000356779:L26V	L	-	1	2	C1orf114	167660714	1.000000	0.71417	0.989000	0.46669	0.959000	0.62525	0.861000	0.27885	-0.447000	0.07138	-0.379000	0.06801	TTA	C1orf114	-	NULL		0.294	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf114	HGNC	protein_coding	OTTHUMT00000086099.1	A	NM_021179		169394090	-1	no_errors	ENST00000367806	ensembl	human	known	70_37	missense	SNP	0.991	C
GNPAT	8443	genome.wustl.edu	37	1	231374579	231374579	+	5'Flank	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:231374579T>C	ENST00000366647.4	+	0	0				C1orf131_ENST00000366651.3_Intron|C1orf131_ENST00000366649.2_Intron|C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000318906.2_Intron|GNPAT_ENST00000366646.3_5'Flank	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCACCACGTATATATAAGCTA	0.408																																																	0													82.0	83.0	83.0					1																	231374579		2203	4300	6503	SO:0001631	upstream_gene_variant	128061			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231374579T>C	Exception_encountered		B4DNM9|Q5TBH7|Q9BWC2	RNA	SNP	-	NULL	ENST00000366647.4	37	NULL	CCDS1592.1	1																																																																																			C1orf131	-	-		0.408	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf131	HGNC	protein_coding	OTTHUMT00000092871.1	T			231374579	-1	no_errors	ENST00000471936	ensembl	human	known	70_37	rna	SNP	0.000	C
C1orf101	257044	genome.wustl.edu	37	1	244736009	244736009	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:244736009A>C	ENST00000366534.4	+	11	1939	c.1885A>C	c.(1885-1887)Aaa>Caa	p.K629Q	C1orf101_ENST00000366531.3_Missense_Mutation_p.K478Q|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.K629Q	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	629						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTATGGCCCAAAAATATTACA	0.363																																																	0													46.0	47.0	47.0					1																	244736009		2202	4300	6502	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1885A>C	1.37:g.244736009A>C	ENSP00000355492:p.Lys629Gln		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.K629Q	ENST00000366534.4	37	c.1885	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	A	4.463	0.085858	0.08583	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.06	2.6	0.31112	.	0.898762	0.09425	N	0.803817	T	0.23727	0.0574	L	0.48642	1.525	0.09310	N	1	B;B;B;B	0.25312	0.123;0.041;0.041;0.017	B;B;B;B	0.23716	0.023;0.032;0.048;0.013	T	0.25363	-1.0134	10	0.31617	T	0.26	.	10.0262	0.42072	0.7202:0.2798:0.0:0.0	.	549;629;629;478	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	Q	629;629;629;549;478	ENSP00000355492:K629Q;ENSP00000355491:K629Q;ENSP00000395796:K549Q;ENSP00000355489:K478Q	ENSP00000355489:K478Q	K	+	1	0	C1orf101	242802632	0.677000	0.27577	0.003000	0.11579	0.017000	0.09413	0.348000	0.20031	0.277000	0.22141	0.455000	0.32223	AAA	C1orf101	-	NULL		0.363	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	A	NM_173807		244736009	+1	no_errors	ENST00000366534	ensembl	human	known	70_37	missense	SNP	0.279	C
NOL4L	140688	genome.wustl.edu	37	20	31108723	31108723	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:31108723G>A	ENST00000201961.2	-	3	417	c.198C>T	c.(196-198)atC>atT	p.I66I	C20orf112_ENST00000375678.3_Silent_p.I25I			Q96MY1	NOL4L_HUMAN		227						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						AGGTCTCTGCGATCTGGAGGA	0.562																																																	0																																										SO:0001819	synonymous_variant	140688																														ENST00000201961.2:c.198C>T	20.37:g.31108723G>A			Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Silent	SNP	NULL	p.I66	ENST00000201961.2	37	c.198		20																																																																																			C20orf112	-	NULL		0.562	C20orf112-002	KNOWN	basic|appris_candidate_longest	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078629.3	G			31108723	-1	no_errors	ENST00000201961	ensembl	human	known	70_37	silent	SNP	0.996	A
OSER1	51526	genome.wustl.edu	37	20	42825852	42825852	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:42825852G>A	ENST00000372970.2	-	6	899	c.719C>T	c.(718-720)tCg>tTg	p.S240L	OSER1_ENST00000255174.2_Missense_Mutation_p.S240L			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	240					cellular response to hydrogen peroxide (GO:0070301)												GGCGTGCAGCGACTGAGAGTA	0.527																																																	0													125.0	108.0	114.0					20																	42825852		2203	4300	6503	SO:0001583	missense	51526			AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.719C>T	20.37:g.42825852G>A	ENSP00000362061:p.Ser240Leu		B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	pfam_DUF776	p.S240L	ENST00000372970.2	37	c.719	CCDS13327.1	20	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133152	0.56828	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.50277	0.75;0.75	6.17	6.17	0.99709	.	0.184025	0.46758	D	0.000267	T	0.33818	0.0876	N	0.24115	0.695	0.41148	D	0.986005	P	0.41710	0.76	B	0.25614	0.062	T	0.35549	-0.9784	10	0.72032	D	0.01	-4.7149	20.8794	0.99867	0.0:0.0:1.0:0.0	.	240	Q9NX31	CT111_HUMAN	L	240	ENSP00000255174:S240L;ENSP00000362061:S240L	ENSP00000255174:S240L	S	-	2	0	C20orf111	42259266	0.999000	0.42202	0.998000	0.56505	0.814000	0.46013	2.825000	0.48096	2.941000	0.99782	0.655000	0.94253	TCG	C20orf111	-	NULL		0.527	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf111	HGNC	protein_coding	OTTHUMT00000079334.2	G	NM_016470		42825852	-1	no_errors	ENST00000255174	ensembl	human	known	70_37	missense	SNP	0.998	A
C20orf96	140680	genome.wustl.edu	37	20	257718	257718	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:257718C>A	ENST00000360321.2	-	8	930	c.792G>T	c.(790-792)aaG>aaT	p.K264N	C20orf96_ENST00000382369.5_Missense_Mutation_p.K229N|C20orf96_ENST00000400269.3_Missense_Mutation_p.K206N	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	264	Poly-Lys.									endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TTTTCTTCTTCTTCTGAATCT	0.557																																																	0													136.0	153.0	147.0					20																	257718		2203	4300	6503	SO:0001583	missense	140680			AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.792G>T	20.37:g.257718C>A	ENSP00000353470:p.Lys264Asn		A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	NULL	p.K264N	ENST00000360321.2	37	c.792	CCDS12994.1	20	.	.	.	.	.	.	.	.	.	.	C	6.992	0.553075	0.13374	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.42900	0.96;0.96;0.96	4.43	1.16	0.20824	.	1.846370	0.02329	N	0.073710	T	0.31104	0.0786	L	0.31926	0.97	0.09310	N	1	B;B;B;B	0.24258	0.1;0.1;0.052;0.1	B;B;B;B	0.18871	0.023;0.023;0.012;0.023	T	0.17289	-1.0374	10	0.41790	T	0.15	-1.6625	2.7354	0.05239	0.1969:0.5254:0.1733:0.1044	.	206;229;264;229	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	N	229;264;206	ENSP00000371806:K229N;ENSP00000353470:K264N;ENSP00000383128:K206N	ENSP00000353470:K264N	K	-	3	2	C20orf96	205718	0.491000	0.26019	0.037000	0.18230	0.081000	0.17604	0.740000	0.26188	0.484000	0.27630	0.313000	0.20887	AAG	C20orf96	-	NULL		0.557	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf96	HGNC	protein_coding	OTTHUMT00000077439.2	C	NM_153269		257718	-1	no_errors	ENST00000360321	ensembl	human	known	70_37	missense	SNP	0.016	A
C20orf195	79025	genome.wustl.edu	37	20	62187146	62187146	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:62187146C>T	ENST00000370098.3	+	2	222	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	C20orf195_ENST00000370097.1_Missense_Mutation_p.R44C	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	44						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTACACCGAGCGCCGCAATGC	0.622																																																	0													55.0	51.0	52.0					20																	62187146		2203	4300	6503	SO:0001583	missense	79025				CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.130C>T	20.37:g.62187146C>T	ENSP00000359116:p.Arg44Cys			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.R44C	ENST00000370098.3	37	c.130	CCDS13526.1	20	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127299	0.37533	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.26	4.25	0.50352	.	0.298356	0.22644	N	0.057410	T	0.46249	0.1383	L	0.29908	0.895	0.22719	N	0.998812	D	0.76494	0.999	P	0.61003	0.882	T	0.29397	-1.0013	9	0.87932	D	0	-14.8524	10.6985	0.45913	0.2941:0.7059:0.0:0.0	.	44	Q9BVV2	CT195_HUMAN	C	44	.	ENSP00000359115:R44C	R	+	1	0	C20orf195	61657590	0.028000	0.19301	0.226000	0.23910	0.003000	0.03518	1.674000	0.37544	2.444000	0.82710	0.655000	0.94253	CGC	C20orf195	-	NULL		0.622	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf195	HGNC	protein_coding	OTTHUMT00000080155.1	C	NM_024059		62187146	+1	no_errors	ENST00000370097	ensembl	human	known	70_37	missense	SNP	0.217	T
MAP3K7CL	56911	genome.wustl.edu	37	21	30547123	30547123	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:30547123G>T	ENST00000399947.2	+	9	916	c.639G>T	c.(637-639)gaG>gaT	p.E213D	MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.E113D|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.E113D|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.E113D|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.E107D|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.E113D|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.E213D|MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.E113D|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.E113D	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	213						cytosol (GO:0005829)|nucleus (GO:0005634)											TGACGGAGGAGAATCGGACGT	0.488																																																	0													120.0	111.0	114.0					21																	30547123		2203	4300	6503	SO:0001583	missense	56911			AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"""chromosome 21 open reading frame 7"""	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.639G>T	21.37:g.30547123G>T	ENSP00000382828:p.Glu213Asp		D3DSE0|Q8TCL9	Missense_Mutation	SNP	NULL	p.E213D	ENST00000399947.2	37	c.639	CCDS13584.1	21	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445198	0.83993	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925	T;T	0.55588	0.51;0.51	4.06	3.12	0.35913	.	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.73217	2.22	0.50171	D	0.999858	D;D	0.71674	0.99;0.998	D;D	0.77557	0.98;0.99	T	0.68519	-0.5387	10	0.46703	T	0.11	-20.6769	11.3427	0.49541	0.0968:0.0:0.9032:0.0	.	113;213	B0EVZ8;P57077	.;TAK1L_HUMAN	D	107;213;113;113;213;113;113;113;113	ENSP00000343212:E213D;ENSP00000382828:E213D	ENSP00000345777:E113D	E	+	3	2	C21orf7	29468994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.189000	0.72051	1.198000	0.43158	0.650000	0.86243	GAG	C21orf7	-	NULL		0.488	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	C21orf7	HGNC	protein_coding	OTTHUMT00000171865.2	G	NM_020152		30547123	+1	no_errors	ENST00000341618	ensembl	human	known	70_37	missense	SNP	1.000	T
C2orf43	60526	genome.wustl.edu	37	2	20901338	20901338	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:20901338A>C	ENST00000237822.3	-	6	857	c.778T>G	c.(778-780)Tta>Gta	p.L260V	C2orf43_ENST00000381090.3_Missense_Mutation_p.L260V|C2orf43_ENST00000541941.1_Missense_Mutation_p.L130V|C2orf43_ENST00000403006.2_Missense_Mutation_p.L130V|C2orf43_ENST00000435420.2_Missense_Mutation_p.L212V|C2orf43_ENST00000440866.2_3'UTR	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	260										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTACATAAATGCTCCTTT	0.398																																																	0													307.0	301.0	303.0					2																	20901338		2203	4300	6503	SO:0001583	missense	60526			AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.778T>G	2.37:g.20901338A>C	ENSP00000237822:p.Leu260Val		B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	pfam_DUF2305	p.L260V	ENST00000237822.3	37	c.778	CCDS1702.1	2	.	.	.	.	.	.	.	.	.	.	A	14.54	2.565452	0.45694	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947	T;T;T	0.41758	0.99;1.58;0.99	5.2	0.985	0.19779	.	0.305408	0.26631	N	0.023315	T	0.49440	0.1557	M	0.78049	2.395	0.21325	N	0.999724	D;P;P;P	0.58970	0.984;0.773;0.831;0.909	P;P;P;P	0.57244	0.597;0.453;0.694;0.816	T	0.33954	-0.9848	10	0.27082	T	0.32	-13.0206	3.8115	0.08799	0.5788:0.0:0.0917:0.3296	.	218;212;260;260	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	V	130;260;260;212;130;130	ENSP00000384267:L130V;ENSP00000388635:L212V;ENSP00000440570:L130V	ENSP00000237822:L260V	L	-	1	2	C2orf43	20764819	0.988000	0.35896	0.031000	0.17742	0.546000	0.35178	2.076000	0.41548	0.430000	0.26230	0.533000	0.62120	TTA	C2orf43	-	pfam_DUF2305		0.398	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf43	HGNC	protein_coding	OTTHUMT00000242861.1	A	NM_021925		20901338	-1	no_errors	ENST00000237822	ensembl	human	known	70_37	missense	SNP	0.063	C
C2orf73	129852	genome.wustl.edu	37	2	54587518	54587518	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:54587518C>A	ENST00000398634.2	+	5	725	c.683C>A	c.(682-684)tCt>tAt	p.S228Y	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	228										breast(2)	2						CAACAAAATTCTCAGGAGCTG	0.478																																																	0													35.0	34.0	34.0					2																	54587518		1894	4119	6013	SO:0001583	missense	129852			BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.683C>A	2.37:g.54587518C>A	ENSP00000381631:p.Ser228Tyr		A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	NULL	p.S228Y	ENST00000398634.2	37	c.683	CCDS46285.1	2	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690067	0.68271	.	.	ENSG00000177994	ENST00000398634;ENST00000447328	T;T	0.41758	0.99;0.99	5.14	4.26	0.50523	.	0.092630	0.46442	D	0.000292	T	0.60971	0.2310	M	0.69823	2.125	0.39692	D	0.971067	D;D	0.89917	1.0;1.0	D;D	0.68943	0.961;0.961	T	0.64685	-0.6349	9	.	.	.	-28.1132	13.666	0.62396	0.0:0.925:0.0:0.075	.	170;228	B7ZM12;Q8N5S3	.;CB073_HUMAN	Y	228;170	ENSP00000381631:S228Y;ENSP00000389570:S170Y	.	S	+	2	0	C2orf73	54441022	1.000000	0.71417	0.983000	0.44433	0.976000	0.68499	4.034000	0.57289	1.286000	0.44565	0.650000	0.86243	TCT	C2orf73	-	NULL		0.478	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf73	HGNC	protein_coding	OTTHUMT00000324075.2	C	NM_001100396		54587518	+1	no_errors	ENST00000398634	ensembl	human	known	70_37	missense	SNP	0.999	A
MRPL30	51263	genome.wustl.edu	37	2	99804685	99804685	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:99804685C>T	ENST00000338148.3	+	3	295	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	MRPL30_ENST00000410042.1_Missense_Mutation_p.R33C|C2orf15_ENST00000512183.2_Missense_Mutation_p.R33C|MRPL30_ENST00000465432.1_Intron|MRPL30_ENST00000409145.1_Missense_Mutation_p.R33C	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	33						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AGATTGGATTCGTCACAAATT	0.299																																																	0													58.0	59.0	59.0					2																	99804685		2203	4300	6503	SO:0001583	missense	150590			AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"""Mitochondrial ribosomal proteins / large subunits"""	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.97C>T	2.37:g.99804685C>T	ENSP00000338057:p.Arg33Cys		A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like	p.R63C	ENST00000338148.3	37	c.187	CCDS2041.1	2	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417789	0.62622	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000410042;ENST00000338148;ENST00000409145;ENST00000409841	T;T;T	0.62788	0.0;0.0;0.0	5.31	5.31	0.75309	.	0.131173	0.49305	D	0.000146	T	0.76969	0.4062	M	0.72894	2.215	0.58432	D	0.999999	B;D	0.89917	0.071;1.0	B;D	0.66196	0.01;0.942	T	0.77264	-0.2652	10	0.51188	T	0.08	-17.6709	16.5155	0.84299	0.0:1.0:0.0:0.0	.	33;33	Q8TCC3;Q8TCC3-3	RM30_HUMAN;.	C	33;46;33;33;33;33	ENSP00000420959:R33C;ENSP00000338057:R33C;ENSP00000386752:R33C	ENSP00000312464:R46C	R	+	1	0	C2orf15;MRPL30	99171117	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.224000	0.51238	2.759000	0.94783	0.643000	0.83706	CGT	C2orf15	-	NULL		0.299	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf15	HGNC	protein_coding	OTTHUMT00000253130.2	C			99804685	+1	no_errors	ENST00000424491	ensembl	human	known	70_37	missense	SNP	1.000	T
C3orf20	84077	genome.wustl.edu	37	3	14770064	14770064	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:14770064T>C	ENST00000253697.3	+	12	2261	c.1809T>C	c.(1807-1809)agT>agC	p.S603S	C3orf20_ENST00000435614.1_Silent_p.S481S|C3orf20_ENST00000412910.1_Silent_p.S481S	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	603						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGGAGAAAGTCTTTTACGAT	0.493																																																	0													85.0	80.0	82.0					3																	14770064		2203	4300	6503	SO:0001819	synonymous_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1809T>C	3.37:g.14770064T>C			Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	NULL	p.S603	ENST00000253697.3	37	c.1809	CCDS33706.1	3																																																																																			C3orf20	-	NULL		0.493	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	T	NM_032137		14770064	+1	no_errors	ENST00000253697	ensembl	human	known	70_37	silent	SNP	0.000	C
C3orf14	57415	genome.wustl.edu	37	3	62306187	62306187	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:62306187G>T	ENST00000494481.1	+	3	355	c.41G>T	c.(40-42)aGa>aTa	p.R14I	PTPRG-AS1_ENST00000498655.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|C3orf14_ENST00000232519.5_Missense_Mutation_p.R14I|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|C3orf14_ENST00000486169.1_3'UTR|C3orf14_ENST00000542214.1_Missense_Mutation_p.R14I|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R14I|PTPRG-AS1_ENST00000462497.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	14										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTTTCTAAAAGACATGAAGAA	0.299																																																	0													63.0	64.0	64.0					3																	62306187		2201	4295	6496	SO:0001583	missense	57415			AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.41G>T	3.37:g.62306187G>T	ENSP00000418086:p.Arg14Ile		B2R9U0	Missense_Mutation	SNP	NULL	p.R14I	ENST00000494481.1	37	c.41	CCDS2896.1	3	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608902	0.66558	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000465142;ENST00000494481;ENST00000542214	.	.	.	5.35	3.49	0.39957	.	0.083886	0.51477	D	0.000093	T	0.62792	0.2457	M	0.62723	1.935	0.48901	D	0.999728	D	0.57257	0.979	P	0.53722	0.733	T	0.63871	-0.6539	9	0.46703	T	0.11	-18.8968	10.1722	0.42917	0.0759:0.138:0.7862:0.0	.	14	Q9HBI5	CC014_HUMAN	I	14	.	ENSP00000232519:R14I	R	+	2	0	C3orf14	62281227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.410000	0.44592	1.349000	0.45751	0.455000	0.32223	AGA	C3orf14	-	NULL		0.299	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf14	HGNC	protein_coding	OTTHUMT00000351807.1	G	NM_020685		62306187	+1	no_errors	ENST00000232519	ensembl	human	known	70_37	missense	SNP	1.000	T
C4A	720	genome.wustl.edu	37	6	31963801	31963801	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:31963801G>T	ENST00000428956.2	+	26	3384	c.3300G>T	c.(3298-3300)ctG>ctT	p.L1100L	C4A_ENST00000498271.1_Silent_p.L1100L	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1100					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	CTGAGAAACTGCAGGAGACAT	0.587																																																	0													25.0	26.0	25.0					6																	31963801		1561	3522	5083	SO:0001819	synonymous_variant	720			L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"""Blood group antigens"", ""Complement system"""	1323	protein-coding gene	gene with protein product		120810	"""complement component 4A"""				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3300G>T	6.37:g.31963801G>T			A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Silent	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A2M_N,pfam_Netrin_module_non-TIMP,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.L1100	ENST00000428956.2	37	c.3300	CCDS47404.1	6																																																																																			C4A	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.587	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4A	HGNC	protein_coding	OTTHUMT00000076364.3	G	NM_007293		31963801	+1	no_errors	ENST00000428956	ensembl	human	known	70_37	silent	SNP	1.000	T
ZGRF1	55345	genome.wustl.edu	37	4	113462071	113462071	+	Missense_Mutation	SNP	G	G	A	rs150416544	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:113462071G>A	ENST00000505019.1	-	26	5941	c.5816C>T	c.(5815-5817)aCg>aTg	p.T1939M	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1939						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)		GAGTGTAAACGTAGCTTCTGC	0.368																																																	0								G	MET/THR	6,4396		0,6,2195	82.0	73.0	76.0		5816	4.8	0.4	4	dbSNP_134	76	0,8598		0,0,4299	yes	missense	C4orf21	NM_018392.4	81	0,6,6494	AA,AG,GG		0.0,0.1363,0.0462	possibly-damaging	1939/2105	113462071	6,12994	2201	4299	6500	SO:0001583	missense	55345																														ENST00000505019.1:c.5816C>T	4.37:g.113462071G>A	ENSP00000424737:p.Thr1939Met		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.T1939M	ENST00000505019.1	37	c.5816		4	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009909	0.35415	0.001363	0.0	ENSG00000138658	ENST00000505019	D	0.82081	-1.57	5.68	4.83	0.62350	.	0.769709	0.12215	N	0.488943	T	0.76407	0.3983	N	0.20445	0.575	0.09310	N	0.999995	P;D	0.55605	0.745;0.972	B;P	0.51833	0.333;0.681	T	0.65376	-0.6183	10	0.45353	T	0.12	-5.1727	4.127	0.10131	0.0785:0.1405:0.5191:0.2618	.	1939;397	G5EA02;B3KQX2	.;.	M	1939	ENSP00000424737:T1939M	ENSP00000424737:T1939M	T	-	2	0	C4orf21	113681520	1.000000	0.71417	0.366000	0.25914	0.922000	0.55478	2.064000	0.41432	1.368000	0.46115	0.563000	0.77884	ACG	C4orf21	-	NULL		0.368	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	G			113462071	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	missense	SNP	0.225	A
ZGRF1	55345	genome.wustl.edu	37	4	113510989	113510989	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:113510989A>C	ENST00000505019.1	-	11	3143	c.3018T>G	c.(3016-3018)gtT>gtG	p.V1006V	C4orf21_ENST00000309071.5_Silent_p.V1006V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1006						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)		AAAAGGTAGAAACAGGGCTCA	0.358																																																	0													69.0	70.0	70.0					4																	113510989		2203	4300	6503	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.3018T>G	4.37:g.113510989A>C			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.V1006	ENST00000505019.1	37	c.3018		4																																																																																			C4orf21	-	NULL		0.358	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	A			113510989	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	silent	SNP	0.178	C
C4orf36	132989	genome.wustl.edu	37	4	87809014	87809014	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:87809014G>A	ENST00000473559.1	-	7	916	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	C4orf36_ENST00000503001.1_5'Flank|C4orf36_ENST00000295898.3_Missense_Mutation_p.R85C			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	85										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		TTACAAAGACGCTTCACTTCA	0.378																																																	0													90.0	84.0	86.0					4																	87809014		2203	4300	6503	SO:0001583	missense	132989			BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.253C>T	4.37:g.87809014G>A	ENSP00000420949:p.Arg85Cys			Missense_Mutation	SNP	NULL	p.R85C	ENST00000473559.1	37	c.253	CCDS3615.1	4	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453296	0.63290	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308	T;T;T	0.43688	0.94;0.94;0.94	5.23	5.23	0.72850	.	0.000000	0.56097	D	0.000023	T	0.53400	0.1794	L	0.32530	0.975	0.52501	D	0.999951	D	0.89917	1.0	D	0.97110	1.0	T	0.54853	-0.8231	10	0.87932	D	0	-10.908	14.1752	0.65537	0.0:0.0:1.0:0.0	.	85	Q96KX1	CD036_HUMAN	C	85	ENSP00000295898:R85C;ENSP00000420949:R85C;ENSP00000421141:R85C	ENSP00000295898:R85C	R	-	1	0	C4orf36	88028038	0.995000	0.38212	1.000000	0.80357	0.340000	0.28889	2.772000	0.47678	2.724000	0.93272	0.561000	0.74099	CGT	C4orf36	-	NULL		0.378	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf36	HGNC	protein_coding	OTTHUMT00000253045.2	G	NM_144645		87809014	-1	no_errors	ENST00000295898	ensembl	human	known	70_37	missense	SNP	1.000	A
C4orf29	80167	genome.wustl.edu	37	4	128949726	128949726	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:128949726T>G	ENST00000444616.1	+	10	1043	c.796T>G	c.(796-798)Tta>Gta	p.L266V	C4orf29_ENST00000388795.5_Missense_Mutation_p.L218V|C4orf29_ENST00000398965.1_Missense_Mutation_p.L266V			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	266						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						AACTTTAAATTTAGATATATC	0.378																																																	0													38.0	37.0	37.0					4																	128949726		1837	4090	5927	SO:0001583	missense	80167			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.796T>G	4.37:g.128949726T>G	ENSP00000397229:p.Leu266Val		A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	pfam_DUF2048	p.L266V	ENST00000444616.1	37	c.796		4	.	.	.	.	.	.	.	.	.	.	T	5.909	0.351819	0.11182	.	.	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	4.73	-0.74	0.11115	.	1.186040	0.06040	N	0.654651	T	0.30634	0.0771	L	0.47190	1.495	0.25192	N	0.990121	B;B	0.22003	0.063;0.023	B;B	0.19666	0.026;0.018	T	0.22591	-1.0212	9	0.25106	T	0.35	-19.4942	1.8897	0.03245	0.1294:0.215:0.1324:0.5232	.	218;266	B7WP89;Q0P651	.;CD029_HUMAN	V	266;97;266;266;218;184;173	.	ENSP00000373447:L218V	L	+	1	2	C4orf29	129169176	0.980000	0.34600	0.771000	0.31576	0.591000	0.36615	0.255000	0.18333	-0.015000	0.14150	0.533000	0.62120	TTA	C4orf29	-	pfam_DUF2048		0.378	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	C4orf29	HGNC	protein_coding	OTTHUMT00000257098.1	T	NM_001039717		128949726	+1	no_errors	ENST00000398965	ensembl	human	known	70_37	missense	SNP	0.491	G
C4orf51	646603	genome.wustl.edu	37	4	146617722	146617722	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:146617722C>A	ENST00000438731.1	+	2	245	c.245C>A	c.(244-246)aCa>aAa	p.T82K		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	82										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						ATGTCATTGACAAACAGTTCT	0.413																																																	0													155.0	147.0	150.0					4																	146617722		1885	4108	5993	SO:0001583	missense	646603				CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.245C>A	4.37:g.146617722C>A	ENSP00000391404:p.Thr82Lys			Missense_Mutation	SNP	NULL	p.T82K	ENST00000438731.1	37	c.245	CCDS47140.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.782|7.782	0.709715|0.709715	0.15239|0.15239	.|.	.|.	ENSG00000237136|ENSG00000237136	ENST00000511965|ENST00000438731	.|.	.|.	.|.	3.67|3.67	1.94|1.94	0.25998|0.25998	.|.	.|.	.|.	.|.	.|.	T|T	0.18383|0.18383	0.0441|0.0441	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.11329	.|0.006	T|T	0.19745|0.19745	-1.0296|-1.0296	5|8	.|0.62326	.|D	.|0.03	.|.	6.2141|6.2141	0.20646|0.20646	0.0:0.7928:0.0:0.2072|0.0:0.7928:0.0:0.2072	.|.	.|82	.|C9J302	.|CD051_HUMAN	K|K	42|82	.|.	.|ENSP00000391404:T82K	Q|T	+|+	1|2	0|0	C4orf51|C4orf51	146837172|146837172	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.037000|0.037000	0.13140|0.13140	-0.330000|-0.330000	0.07925|0.07925	0.549000|0.549000	0.28973|0.28973	0.561000|0.561000	0.74099|0.74099	CAA|ACA	C4orf51	-	NULL		0.413	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf51	HGNC	protein_coding		C	NM_001080531		146617722	+1	no_errors	ENST00000438731	ensembl	human	known	70_37	missense	SNP	0.001	A
C5orf38	153571	genome.wustl.edu	37	5	2755148	2755148	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:2755148G>T	ENST00000334000.3	+	4	527	c.410G>T	c.(409-411)aGa>aTa	p.R137I	IRX2_ENST00000502957.1_5'Flank|C5orf38_ENST00000505778.1_3'UTR|C5orf38_ENST00000397835.4_Missense_Mutation_p.K113N|C5orf38_ENST00000457752.2_Missense_Mutation_p.R69I	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	137						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		AACAGCCAAAGAATTTAGAAC	0.562																																																	0													89.0	100.0	97.0					5																	2755148		2203	4300	6503	SO:0001583	missense	153571			AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.410G>T	5.37:g.2755148G>T	ENSP00000334267:p.Arg137Ile			Missense_Mutation	SNP	NULL	p.R137I	ENST00000334000.3	37	c.410	CCDS34131.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.433|8.433	0.849059|0.849059	0.17034|0.17034	.|.	.|.	ENSG00000186493|ENSG00000186493	ENST00000397835|ENST00000457752;ENST00000334000	.|.	.|.	.|.	3.09|3.09	2.19|2.19	0.27852|0.27852	.|.	.|.	.|.	.|.	.|.	T|T	0.18383|0.18383	0.0441|0.0441	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.18310	.|0.027	.|B	.|0.19946	.|0.027	T|T	0.18967|0.18967	-1.0320|-1.0320	6|8	0.87932|0.87932	D|D	0|0	.|.	5.3906|5.3906	0.16242|0.16242	0.1636:0.0:0.8364:0.0|0.1636:0.0:0.8364:0.0	.|.	.|137	.|Q86SI9	.|CEI_HUMAN	N|I	113|69;137	.|.	ENSP00000380935:K113N|ENSP00000334267:R137I	K|R	+|+	3|2	2|0	C5orf38|C5orf38	2808148|2808148	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.007000|0.007000	0.05969|0.05969	0.184000|0.184000	0.16939|0.16939	0.846000|0.846000	0.35142|0.35142	0.561000|0.561000	0.74099|0.74099	AAG|AGA	C5orf38	-	NULL		0.562	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf38	HGNC	protein_coding	OTTHUMT00000365956.2	G	NM_178569		2755148	+1	no_errors	ENST00000334000	ensembl	human	known	70_37	missense	SNP	0.005	T
C6orf10	10665	genome.wustl.edu	37	6	32261158	32261158	+	Missense_Mutation	SNP	G	G	T	rs114543649	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:32261158G>T	ENST00000447241.2	-	23	1464	c.1292C>A	c.(1291-1293)aCt>aAt	p.T431N	C6orf10_ENST00000527965.1_Missense_Mutation_p.T415N|C6orf10_ENST00000375015.4_Missense_Mutation_p.T430N|C6orf10_ENST00000375007.4_Missense_Mutation_p.T429N|C6orf10_ENST00000533191.1_Missense_Mutation_p.T429N|C6orf10_ENST00000442822.2_Missense_Mutation_p.T422N	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	431						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATCTGCCTCAGTCTTCTCTAC	0.468																																																	0													178.0	201.0	193.0					6																	32261158		1511	2708	4219	SO:0001583	missense	10665			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1292C>A	6.37:g.32261158G>T	ENSP00000415517:p.Thr431Asn		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	NULL	p.T431N	ENST00000447241.2	37	c.1292	CCDS34422.1	6	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.713833	0.00706	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.03982	3.74;3.75;3.74;3.74;3.74;3.74	3.38	-0.619	0.11572	.	.	.	.	.	T	0.01189	0.0039	N	0.25647	0.755	0.09310	N	1	B;B	0.29037	0.069;0.231	B;B	0.38755	0.046;0.281	T	0.48581	-0.9023	9	0.16896	T	0.51	-6.4165	5.3342	0.15949	0.0:0.2388:0.4573:0.304	.	431;422	Q5SRN2;C9J9T8	CF010_HUMAN;.	N	422;431;430;429;415;429;428;428	ENSP00000411164:T422N;ENSP00000415517:T431N;ENSP00000364155:T430N;ENSP00000431199:T429N;ENSP00000435103:T415N;ENSP00000364146:T429N	ENSP00000303292:T428N	T	-	2	0	C6orf10	32369136	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.925000	0.03992	-0.454000	0.07066	-0.225000	0.12378	ACT	C6orf10	-	NULL		0.468	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	HGNC	protein_coding	OTTHUMT00000076178.4	G	NM_006781		32261158	-1	no_errors	ENST00000447241	ensembl	human	known	70_37	missense	SNP	0.018	T
C6orf201	404220	genome.wustl.edu	37	6	4087923	4087923	+	Silent	SNP	G	G	A	rs374921182		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:4087923G>A	ENST00000380175.4	+	2	813	c.48G>A	c.(46-48)acG>acA	p.T16T	C6orf201_ENST00000430835.2_Silent_p.T16T|C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000360378.6_3'UTR|FAM217A_ENST00000380188.2_5'Flank	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	16										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TGATGGAGACGCTTTATTCCC	0.478																																																	0								G		1,3843		0,1,1921	193.0	206.0	202.0		48	0.3	0.0	6		202	1,8291		0,1,4145	no	coding-synonymous	C6orf201	NM_001085401.1		0,2,6066	AA,AG,GG		0.0121,0.026,0.0165		16/141	4087923	2,12134	1922	4146	6068	SO:0001819	synonymous_variant	404220			BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.48G>A	6.37:g.4087923G>A			A6NLI6|Q6NXN5	Silent	SNP	NULL	p.T16	ENST00000380175.4	37	c.48	CCDS43419.1	6																																																																																			C6orf201	-	NULL		0.478	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	C6orf201	HGNC	protein_coding	OTTHUMT00000314019.2	G	NM_001085401		4087923	+1	no_errors	ENST00000380175	ensembl	human	known	70_37	silent	SNP	0.001	A
C6orf57	135154	genome.wustl.edu	37	6	71298317	71298317	+	Splice_Site	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:71298317G>T	ENST00000370474.3	+	3	241		c.e3-1			NM_145267.2	NP_660310.2	Q5VUM1	SDHF4_HUMAN	chromosome 6 open reading frame 57						innate immune response (GO:0045087)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)				kidney(1)|lung(1)|skin(1)	3						GTTTTCCTTAGAATTTCCAGA	0.363																																																	0													54.0	60.0	58.0					6																	71298317		2203	4300	6503	SO:0001630	splice_region_variant	135154			BC018085	CCDS4972.1	6q12	2011-12-13			ENSG00000154079	ENSG00000154079			20957	protein-coding gene	gene with protein product							Standard	NM_145267		Approved		uc003pfq.1	Q5VUM1	OTTHUMG00000014992	ENST00000370474.3:c.218-1G>T	6.37:g.71298317G>T			E1P532	Splice_Site	SNP	-	e3-1	ENST00000370474.3	37	c.218-1	CCDS4972.1	6	.	.	.	.	.	.	.	.	.	.	G	17.52	3.408928	0.62399	.	.	ENSG00000154079	ENST00000370474	.	.	.	5.76	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2408	0.48968	0.1491:0.0:0.8509:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf57	71355038	1.000000	0.71417	0.970000	0.41538	0.842000	0.47809	8.835000	0.92100	0.783000	0.33636	0.655000	0.94253	.	C6orf57	-	-		0.363	C6orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf57	HGNC	protein_coding	OTTHUMT00000041140.1	G	NM_145267	Intron	71298317	+1	no_errors	ENST00000370474	ensembl	human	known	70_37	splice_site	SNP	1.000	T
C6orf118	168090	genome.wustl.edu	37	6	165703536	165703536	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:165703536T>G	ENST00000230301.8	-	7	1161	c.1141A>C	c.(1141-1143)Att>Ctt	p.I381L	C6orf118_ENST00000494696.2_5'UTR|C6orf118_ENST00000543069.1_3'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	381										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTTTCATCAATTATATGTTTC	0.279																																																	0													52.0	52.0	52.0					6																	165703536		2203	4295	6498	SO:0001583	missense	168090				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1141A>C	6.37:g.165703536T>G	ENSP00000230301:p.Ile381Leu		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.I381L	ENST00000230301.8	37	c.1141	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	T	8.481	0.859782	0.17178	.	.	ENSG00000112539	ENST00000230301	T	0.11712	2.75	5.44	-5.33	0.02713	.	1.819900	0.02307	N	0.071740	T	0.01940	0.0061	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36817	-0.9732	10	0.10636	T	0.68	0.0085	6.8546	0.24034	0.0:0.3648:0.41:0.2252	.	381	Q5T5N4	CF118_HUMAN	L	381	ENSP00000230301:I381L	ENSP00000230301:I381L	I	-	1	0	C6orf118	165623526	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.761000	0.04751	-0.745000	0.04772	0.528000	0.53228	ATT	C6orf118	-	NULL		0.279	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	T	NM_144980		165703536	-1	no_errors	ENST00000230301	ensembl	human	known	70_37	missense	SNP	0.000	G
C7orf57	136288	genome.wustl.edu	37	7	48081074	48081074	+	Missense_Mutation	SNP	G	G	T	rs375449810		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:48081074G>T	ENST00000348904.3	+	3	411	c.199G>T	c.(199-201)Gat>Tat	p.D67Y	C7orf57_ENST00000420324.1_Missense_Mutation_p.D112Y|C7orf57_ENST00000539619.1_Missense_Mutation_p.D67Y|C7orf57_ENST00000430738.1_Missense_Mutation_p.D112Y|C7orf57_ENST00000435376.1_5'UTR	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	67										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AAAAGAAACAGATTCGGAATA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		16856	0.0		0.001	False		,,,				2504	0.0																0								G	TYR/ASP	0,3818		0,0,1909	37.0	40.0	39.0		199	5.7	1.0	7		39	1,8249		0,1,4124	no	missense	C7orf57	NM_001100159.1	160	0,1,6033	TT,TG,GG		0.0121,0.0,0.0083	probably-damaging	67/296	48081074	1,12067	1909	4125	6034	SO:0001583	missense	136288			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.199G>T	7.37:g.48081074G>T	ENSP00000335500:p.Asp67Tyr		C9JBJ8	Missense_Mutation	SNP	NULL	p.D67Y	ENST00000348904.3	37	c.199	CCDS47583.1	7	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600517	0.66332	0.0	1.21E-4	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.84326	2.69	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.75983	-0.3125	10	0.87932	D	0	-31.0434	17.2972	0.87173	0.0:0.0:1.0:0.0	.	67	Q8NEG2	CG057_HUMAN	Y	112;112;67;67	ENSP00000394648:D112Y;ENSP00000410944:D112Y;ENSP00000335500:D67Y;ENSP00000442474:D67Y	ENSP00000335500:D67Y	D	+	1	0	C7orf57	48047599	1.000000	0.71417	0.964000	0.40570	0.452000	0.32318	6.127000	0.71642	2.670000	0.90874	0.563000	0.77884	GAT	C7orf57	-	NULL		0.602	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf57	HGNC	protein_coding	OTTHUMT00000341745.1	G	NM_001100159		48081074	+1	no_errors	ENST00000348904	ensembl	human	known	70_37	missense	SNP	0.993	T
C7orf72	100130988	genome.wustl.edu	37	7	50135973	50135973	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:50135973C>T	ENST00000297001.6	+	1	342	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W		NM_001161834.2	NP_001155306	A4D263	CG072_HUMAN	chromosome 7 open reading frame 72	98										NS(1)|breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|prostate(2)	9						ATTTCCACTTCGGGATGATGT	0.438																																																	0													117.0	91.0	99.0					7																	50135973		692	1591	2283	SO:0001583	missense	100130988				CCDS47585.1	7p12.2	2009-10-15			ENSG00000164500	ENSG00000164500			22564	protein-coding gene	gene with protein product							Standard	NM_001161834		Approved		uc011kcj.2	A4D263	OTTHUMG00000155883	ENST00000297001.6:c.292C>T	7.37:g.50135973C>T	ENSP00000297001:p.Arg98Trp		A6NDX9	Missense_Mutation	SNP	NULL	p.R98W	ENST00000297001.6	37	c.292	CCDS47585.1	7	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505292	0.64410	.	.	ENSG00000164500	ENST00000297001	.	.	.	5.31	2.14	0.27477	.	.	.	.	.	T	0.52917	0.1764	L	0.43923	1.385	0.22127	N	0.999341	D	0.89917	1.0	D	0.70487	0.969	T	0.42292	-0.9460	7	.	.	.	-25.8369	11.8502	0.52407	0.4578:0.5422:0.0:0.0	.	98	A4D263	CG072_HUMAN	W	98	.	.	R	+	1	2	C7orf72	50106519	0.094000	0.21725	0.925000	0.36789	0.975000	0.68041	-0.038000	0.12144	0.648000	0.30732	0.491000	0.48974	CGG	C7orf72	-	NULL		0.438	C7orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf72	HGNC	protein_coding	OTTHUMT00000342124.1	C	NM_001161834		50135973	+1	no_errors	ENST00000297001	ensembl	human	known	70_37	missense	SNP	0.708	T
C7orf62	219557	genome.wustl.edu	37	7	88423783	88423783	+	Silent	SNP	G	G	A	rs377269794		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:88423783G>A	ENST00000297203.2	-	2	659	c.474C>T	c.(472-474)ctC>ctT	p.L158L	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	158										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCACATCGTCGAGATACATAA	0.363																																																	0								G	,	0,4406		0,0,2203	135.0	119.0	124.0		474,	-12.1	0.0	7		124	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron	C7orf62,ZNF804B	NM_152706.2,NM_181646.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	158/254,	88423783	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	219557			BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.474C>T	7.37:g.88423783G>A				Silent	SNP	NULL	p.L158	ENST00000297203.2	37	c.474	CCDS34678.1	7																																																																																			C7orf62	-	NULL		0.363	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf62	HGNC	protein_coding	OTTHUMT00000332714.1	G	NM_152706		88423783	-1	no_errors	ENST00000297203	ensembl	human	known	70_37	silent	SNP	0.018	A
CFAP69	79846	genome.wustl.edu	37	7	89909023	89909023	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:89909023G>A	ENST00000389297.4	+	12	1439	c.1188G>A	c.(1186-1188)ttG>ttA	p.L396L	C7orf63_ENST00000316089.8_Silent_p.L396L|C7orf63_ENST00000497910.1_Silent_p.L378L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		396										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTTTGGCTTTGTTTACCTATG	0.338											OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													67.0	67.0	67.0					7																	89909023		1818	4081	5899	SO:0001819	synonymous_variant	79846																														ENST00000389297.4:c.1188G>A	7.37:g.89909023G>A		1270	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	superfamily_ARM-type_fold	p.L396	ENST00000389297.4	37	c.1188	CCDS43613.2	7																																																																																			C7orf63	-	superfamily_ARM-type_fold		0.338	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	G			89909023	+1	no_errors	ENST00000389297	ensembl	human	known	70_37	silent	SNP	1.000	A
CFAP69	79846	genome.wustl.edu	37	7	89933282	89933282	+	Splice_Site	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:89933282G>T	ENST00000389297.4	+	18	2301		c.e18-1		C7orf63_ENST00000316089.8_Intron|C7orf63_ENST00000497910.1_Splice_Site	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN												breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CCAATGATTAGATACAAAAAA	0.308																																																	0													92.0	81.0	84.0					7																	89933282		692	1591	2283	SO:0001630	splice_region_variant	79846																														ENST00000389297.4:c.2051-1G>T	7.37:g.89933282G>T			A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Splice_Site	SNP	-	e18-1	ENST00000389297.4	37	c.2051-1	CCDS43613.2	7	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028361	0.54790	.	.	ENSG00000105792	ENST00000389297;ENST00000497910	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf63	89771218	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.423000	0.80229	2.711000	0.92665	0.655000	0.94253	.	C7orf63	-	-		0.308	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	G		Intron	89933282	+1	no_errors	ENST00000389297	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CFAP69	79846	genome.wustl.edu	37	7	89934126	89934126	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:89934126G>T	ENST00000389297.4	+	19	2508	c.2257G>T	c.(2257-2259)Gat>Tat	p.D753Y	C7orf63_ENST00000316089.8_Missense_Mutation_p.D707Y|C7orf63_ENST00000497910.1_Missense_Mutation_p.D735Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		753										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TAGATATCTTGATTTTAAAGT	0.254																																																	0													71.0	68.0	69.0					7																	89934126		1780	4043	5823	SO:0001583	missense	79846																														ENST00000389297.4:c.2257G>T	7.37:g.89934126G>T	ENSP00000373948:p.Asp753Tyr		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D753Y	ENST00000389297.4	37	c.2257	CCDS43613.2	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.126259|4.126259	0.77549|0.77549	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577|ENST00000412839	T;T;T;T|.	0.26810|.	2.31;2.27;2.31;1.71|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78723|.	0.4328|.	M|M	0.79475|0.79475	2.455|2.455	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.996;0.999|.	T|.	0.77885|.	-0.2421|.	10|.	0.87932|.	D|.	0|.	-21.1143|-21.1143	19.635|19.635	0.95728|0.95728	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	735;753|.	A5D8W1-5;A5D8W1|.	.;CG063_HUMAN|.	Y|L	753;707;735;290|47	ENSP00000373948:D753Y;ENSP00000321753:D707Y;ENSP00000419549:D735Y;ENSP00000391571:D290Y|.	ENSP00000321753:D707Y|.	D|X	+|+	1|2	0|2	C7orf63|C7orf63	89772062|89772062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.126000|7.126000	0.77201|0.77201	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAT|TGA	C7orf63	-	NULL		0.254	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	G			89934126	+1	no_errors	ENST00000389297	ensembl	human	known	70_37	missense	SNP	1.000	T
LSMEM1	286006	genome.wustl.edu	37	7	112127090	112127090	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:112127090C>T	ENST00000312849.4	+	3	601	c.240C>T	c.(238-240)ttC>ttT	p.F80F	LSMEM1_ENST00000439068.2_Silent_p.F80F|LSMEM1_ENST00000486022.1_3'UTR	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	80						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TGGTTTTTTTCGTGATATTTC	0.413																																																	0													161.0	155.0	157.0					7																	112127090		2203	4300	6503	SO:0001819	synonymous_variant	286006			AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.240C>T	7.37:g.112127090C>T			Q49AR6	Silent	SNP	NULL	p.F80	ENST00000312849.4	37	c.240	CCDS5756.1	7																																																																																			C7orf53	-	NULL		0.413	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf53	HGNC	protein_coding	OTTHUMT00000338716.2	C	NM_182597		112127090	+1	no_errors	ENST00000312849	ensembl	human	known	70_37	silent	SNP	0.680	T
GATA4	2626	genome.wustl.edu	37	8	11619398	11619398	+	IGR	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:11619398T>C	ENST00000335135.4	+	0	3414				C8orf49_ENST00000525043.2_Missense_Mutation_p.V159A	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4						atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CAAGTATGCGTCATGCCTGCG	0.507																																																	0																																										SO:0001628	intergenic_variant	606553			AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800		8.37:g.11619398T>C			B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	NULL	p.V159A	ENST00000335135.4	37	c.476	CCDS5983.1	8	.	.	.	.	.	.	.	.	.	.	T	1.250	-0.618780	0.03663	.	.	ENSG00000255394	ENST00000525043	T	0.27402	1.67	2.06	-0.435	0.12279	.	.	.	.	.	T	0.20007	0.0481	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26155	-1.0111	8	0.87932	D	0	.	4.4939	0.11828	0.0:0.3389:0.0:0.6611	.	159	E9PQH1	.	A	159	ENSP00000436777:V159A	ENSP00000436777:V159A	V	+	2	0	C8orf49	11656807	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.671000	0.05250	-0.111000	0.12001	-1.962000	0.00476	GTC	C8orf49	-	NULL		0.507	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C8orf49	HGNC	protein_coding	OTTHUMT00000207587.2	T	NM_002052		11619398	+1	no_errors	ENST00000525043	ensembl	human	known	70_37	missense	SNP	0.000	C
C8orf34	116328	genome.wustl.edu	37	8	69633640	69633640	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:69633640G>A	ENST00000539993.1	+	10	1663	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	C8orf34_ENST00000325233.3_Missense_Mutation_p.E116K|C8orf34_ENST00000337103.4_Missense_Mutation_p.E347K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E458K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	372										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGAGGGTGACGAATTTGAGAA	0.279																																																	0													110.0	117.0	115.0					8																	69633640		2203	4300	6503	SO:0001583	missense	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1114G>A	8.37:g.69633640G>A	ENSP00000438159:p.Glu372Lys		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.E458K	ENST00000539993.1	37	c.1372		8	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742072	0.49151	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.46451	0.87;0.92;0.91;0.87	5.55	4.67	0.58626	.	0.751967	0.12831	N	0.435629	T	0.31702	0.0805	L	0.34521	1.04	0.21933	N	0.999467	B	0.12630	0.006	B	0.09377	0.004	T	0.15983	-1.0418	9	.	.	.	-4.2088	10.6316	0.45541	0.0887:0.0:0.9113:0.0	.	372	Q49A92	CH034_HUMAN	K	458;372;347;116	ENSP00000427820:E458K;ENSP00000438159:E372K;ENSP00000337174:E347K;ENSP00000319532:E116K	.	E	+	1	0	C8orf34	69796194	1.000000	0.71417	0.978000	0.43139	0.317000	0.28152	2.783000	0.47766	1.500000	0.48636	-0.225000	0.12378	GAA	C8orf34	-	NULL		0.279	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding		G	NM_052958		69633640	+1	no_errors	ENST00000518698	ensembl	human	known	70_37	missense	SNP	0.997	A
C9orf131	138724	genome.wustl.edu	37	9	35043198	35043199	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:35043198_35043199insA	ENST00000312292.5	+	2	619_620	c.572_573insA	c.(571-576)agaaaafs	p.RK191fs	C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.RK118fs|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.RK143fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	191										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CAGCAGCAGAGAAAAAGCCAGC	0.569																																																	0																																										SO:0001589	frameshift_variant	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.577dupA	9.37:g.35043203_35043203dupA	ENSP00000308279:p.Arg191fs		A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Ins	INS	NULL	p.S193fs	ENST00000312292.5	37	c.572_573	CCDS6572.2	9																																																																																			C9orf131	-	NULL		0.569	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	-	NM_203299		35043199	+1	no_errors	ENST00000312292	ensembl	human	known	70_37	frame_shift_ins	INS	0.066:0.093	A
C9orf43	257169	genome.wustl.edu	37	9	116175787	116175787	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:116175787A>C	ENST00000288462.4	+	2	460	c.14A>C	c.(13-15)gAt>gCt	p.D5A	C9orf43_ENST00000490544.1_3'UTR|POLE3_ENST00000374171.4_5'Flank|C9orf43_ENST00000374165.1_Missense_Mutation_p.D5A	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	5										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						GACTTGCCAGATGAGAGCCAG	0.502																																																	0													69.0	65.0	66.0					9																	116175787		2203	4300	6503	SO:0001583	missense	257169			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.14A>C	9.37:g.116175787A>C	ENSP00000288462:p.Asp5Ala			Missense_Mutation	SNP	NULL	p.D5A	ENST00000288462.4	37	c.14	CCDS6796.1	9	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628539	0.67015	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.65549	-0.16;-0.16	5.46	5.46	0.80206	.	0.000000	0.45361	D	0.000363	T	0.70064	0.3181	L	0.34521	1.04	0.38794	D	0.955058	D	0.89917	1.0	D	0.91635	0.999	T	0.75007	-0.3469	10	0.87932	D	0	-22.1264	13.7703	0.63021	1.0:0.0:0.0:0.0	.	5	Q8TAL5	CI043_HUMAN	A	5	ENSP00000363280:D5A;ENSP00000288462:D5A	ENSP00000288462:D5A	D	+	2	0	C9orf43	115215608	0.971000	0.33674	0.986000	0.45419	0.533000	0.34776	2.495000	0.45337	2.197000	0.70478	0.460000	0.39030	GAT	C9orf43	-	NULL		0.502	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	A	NM_152786		116175787	+1	no_errors	ENST00000288462	ensembl	human	known	70_37	missense	SNP	0.954	C
CA4	762	genome.wustl.edu	37	17	58234005	58234005	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:58234005A>C	ENST00000300900.4	+	3	296	c.197A>C	c.(196-198)aAa>aCa	p.K66T		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	66					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GTGGACAAAAAACTGGGACGC	0.562																																																	0													111.0	98.0	102.0					17																	58234005		2203	4300	6503	SO:0001583	missense	762			L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.197A>C	17.37:g.58234005A>C	ENSP00000300900:p.Lys66Thr		B4DQA4|Q6FHI7	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.K66T	ENST00000300900.4	37	c.197	CCDS11624.1	17	.	.	.	.	.	.	.	.	.	.	A	8.779	0.927777	0.18056	.	.	ENSG00000167434	ENST00000300900	T	0.68025	-0.3	5.27	-10.3	0.00346	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.505870	0.03011	N	0.149409	T	0.48750	0.1517	L	0.28504	0.86	0.09310	N	1	B	0.21225	0.053	B	0.20577	0.03	T	0.21690	-1.0238	10	0.18276	T	0.48	.	11.669	0.51391	0.1407:0.3256:0.5337:0.0	.	66	P22748	CAH4_HUMAN	T	66	ENSP00000300900:K66T	ENSP00000300900:K66T	K	+	2	0	CA4	55588787	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.908000	0.01587	-1.855000	0.01162	-1.165000	0.01757	AAA	CA4	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.562	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA4	HGNC	protein_coding	OTTHUMT00000449189.1	A	NM_000717		58234005	+1	no_errors	ENST00000300900	ensembl	human	known	70_37	missense	SNP	0.000	C
CACHD1	57685	genome.wustl.edu	37	1	65068492	65068492	+	Silent	SNP	C	C	T	rs527836063		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:65068492C>T	ENST00000371073.2	+	4	414	c.414C>T	c.(412-414)ttC>ttT	p.F138F	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.F87F			Q5VU97	CAHD1_HUMAN	cache domain containing 1	138					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTTTCAGATTCGATGGGAACT	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		13731	0.0		0.0	False		,,,				2504	0.001																0													122.0	109.0	113.0					1																	65068492		1849	4087	5936	SO:0001819	synonymous_variant	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.414C>T	1.37:g.65068492C>T			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.F138	ENST00000371073.2	37	c.414		1																																																																																			CACHD1	-	pfam_VWA_N		0.378	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		C	NM_020925		65068492	+1	no_errors	ENST00000371073	ensembl	human	known	70_37	silent	SNP	0.695	T
CACHD1	57685	genome.wustl.edu	37	1	65129402	65129402	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:65129402C>T	ENST00000371073.2	+	14	1976	c.1976C>T	c.(1975-1977)gCt>gTt	p.A659V	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.A608V			Q5VU97	CAHD1_HUMAN	cache domain containing 1	659					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATGCTGTCTGCTGGCAGCTTT	0.537																																																	0													190.0	191.0	190.0					1																	65129402		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1976C>T	1.37:g.65129402C>T	ENSP00000360113:p.Ala659Val		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.A659V	ENST00000371073.2	37	c.1976		1	.	.	.	.	.	.	.	.	.	.	C	36	5.688819	0.96784	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.26660	1.72;1.73	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	L	0.47190	1.495	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.01280	-1.1397	10	0.35671	T	0.21	-19.1015	19.733	0.96192	0.0:1.0:0.0:0.0	.	659	Q5VU97	CAHD1_HUMAN	V	659;608	ENSP00000360113:A659V;ENSP00000290039:A608V	ENSP00000290039:A608V	A	+	2	0	CACHD1	64901990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.665000	0.90641	0.585000	0.79938	GCT	CACHD1	-	NULL		0.537	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		C	NM_020925		65129402	+1	no_errors	ENST00000371073	ensembl	human	known	70_37	missense	SNP	1.000	T
CACHD1	57685	genome.wustl.edu	37	1	65139113	65139113	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:65139113T>C	ENST00000371073.2	+	19	2693	c.2693T>C	c.(2692-2694)gTc>gCc	p.V898A	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.V847A			Q5VU97	CAHD1_HUMAN	cache domain containing 1	898					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GACAGAACGGTCCAGAGGTTT	0.428																																																	0													132.0	129.0	130.0					1																	65139113		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2693T>C	1.37:g.65139113T>C	ENSP00000360113:p.Val898Ala		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.V898A	ENST00000371073.2	37	c.2693		1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023681	0.75390	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.26660	1.72;1.73	4.84	4.84	0.62591	.	0.110120	0.64402	D	0.000009	T	0.32763	0.0840	M	0.61703	1.905	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.03231	-1.1058	10	0.34782	T	0.22	-24.2971	14.7091	0.69215	0.0:0.0:0.0:1.0	.	898	Q5VU97	CAHD1_HUMAN	A	898;847	ENSP00000360113:V898A;ENSP00000290039:V847A	ENSP00000290039:V847A	V	+	2	0	CACHD1	64911701	1.000000	0.71417	0.819000	0.32651	0.787000	0.44495	7.438000	0.80431	1.924000	0.55735	0.482000	0.46254	GTC	CACHD1	-	NULL		0.428	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		T	NM_020925		65139113	+1	no_errors	ENST00000371073	ensembl	human	known	70_37	missense	SNP	1.000	C
CACNA1B	774	genome.wustl.edu	37	9	140972693	140972693	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:140972693T>G	ENST00000371372.1	+	36	5222	c.5077T>G	c.(5077-5079)Ttc>Gtc	p.F1693V	CACNA1B_ENST00000371355.4_Missense_Mutation_p.F1694V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F1693V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F1692V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.F887V|CACNA1B_ENST00000371365.2_Missense_Mutation_p.F57V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F1691V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1693					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)	CTCCTTCATCTTCCTGTGCTC	0.567																																																	0													179.0	183.0	182.0					9																	140972693		2148	4249	6397	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.5077T>G	9.37:g.140972693T>G	ENSP00000360423:p.Phe1693Val		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.F1694V	ENST00000371372.1	37	c.5080	CCDS59522.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.100286|4.100286	0.76983|0.76983	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371365|ENST00000413253	D;D;D;D;D;D;D|.	0.98437|.	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93|.	5.8|5.8	4.65|4.65	0.58169|0.58169	Ion transport (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55986|0.55986	0.1955|0.1955	L|L	0.39514|0.39514	1.22|1.22	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.50742|0.50742	-0.8792|-0.8792	10|5	0.72032|.	D|.	0.01|.	.|.	11.8997|11.8997	0.52675|0.52675	0.0:0.068:0.0:0.932|0.0:0.068:0.0:0.932	.|.	1693;1692;1691|.	Q00975;B1AQK7;B1AQK6|.	CAC1B_HUMAN;.;.|.	V|R	1693;1693;887;1691;1692;1694;57|57	ENSP00000360423:F1693V;ENSP00000277551:F1693V;ENSP00000277549:F887V;ENSP00000360414:F1691V;ENSP00000360408:F1692V;ENSP00000360406:F1694V;ENSP00000360416:F57V|.	ENSP00000277549:F887V|.	F|L	+|+	1|2	0|0	CACNA1B|CACNA1B	140092514|140092514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.874000|7.874000	0.87199|0.87199	1.025000|1.025000	0.39708|0.39708	0.459000|0.459000	0.35465|0.35465	TTC|CTT	CACNA1B	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_PKD_2		0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	T	NM_000718		140972693	+1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	1.000	G
CACNA1C	775	genome.wustl.edu	37	12	2614095	2614095	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:2614095C>A	ENST00000347598.4	+	8	1201	c.1201C>A	c.(1201-1203)Ctc>Atc	p.L401I	CACNA1C_ENST00000399606.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L401I|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399655.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L401I|CACNA1C_ENST00000480911.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L401I|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L401I|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L401I|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399603.1_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	401					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAACTTGGTTCTCGGTGTGCT	0.398																																																	0													110.0	105.0	106.0					12																	2614095		1888	4136	6024	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1201C>A	12.37:g.2614095C>A	ENSP00000266376:p.Leu401Ile		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L401I	ENST00000347598.4	37	c.1201	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431031	0.83776	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399595	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.27	5.27	0.74061	Ion transport (1);	.	.	.	.	D	0.98432	0.9478	M	0.63208	1.945	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;0.998;1.0;0.993;0.999;0.998;0.999;0.998;1.0;0.999;0.998;1.0;0.999;1.0;0.99;0.999;0.999;0.99;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.99;0.99;0.998;0.99;0.995;0.99;0.995;0.994;0.999;0.995;0.995;0.996;0.995;0.996;0.979;0.995;0.995;0.979;0.99	D	0.99667	1.0995	9	0.87932	D	0	.	19.0978	0.93260	0.0:1.0:0.0:0.0	.	401;398;401;401;401;401;401;401;401;401;401;401;401;401;401;401;401;401;401	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	401	ENSP00000336982:L401I;ENSP00000382563:L401I;ENSP00000437936:L401I;ENSP00000382552:L401I;ENSP00000382547:L401I;ENSP00000382506:L401I;ENSP00000382530:L401I;ENSP00000382546:L401I;ENSP00000382500:L401I;ENSP00000266376:L401I;ENSP00000382515:L401I;ENSP00000382510:L401I;ENSP00000341092:L401I;ENSP00000382537:L401I;ENSP00000329877:L401I;ENSP00000382557:L401I;ENSP00000385724:L401I;ENSP00000382504:L401I	ENSP00000329877:L401I	L	+	1	0	CACNA1C	2484356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.764000	0.62264	2.735000	0.93741	0.655000	0.94253	CTC	CACNA1C	-	pfam_Ion_trans_dom		0.398	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2614095	+1	no_errors	ENST00000347598	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA1D	776	genome.wustl.edu	37	3	53835295	53835295	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:53835295C>T	ENST00000350061.5	+	42	5762	c.5251C>T	c.(5251-5253)Ccc>Tcc	p.P1751S	CACNA1D_ENST00000544977.1_Missense_Mutation_p.P130S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1736S|CACNA1D_ENST00000288139.4_Missense_Mutation_p.P1771S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1751					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|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 potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAAGCAAGTTCCCACCTCAAC	0.453																																																	0													91.0	78.0	83.0					3																	53835295		2203	4300	6503	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5251C>T	3.37:g.53835295C>T	ENSP00000288133:p.Pro1751Ser		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.P1771S	ENST00000350061.5	37	c.5311	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553651	0.27739	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	D;D;D;D	0.95821	-3.78;-3.82;-3.78;-3.81	4.3	4.3	0.51218	.	3.311960	0.01340	N	0.011557	D	0.90655	0.7069	N	0.13098	0.295	0.44508	D	0.997457	B;B;B;B	0.30406	0.278;0.021;0.0;0.005	B;B;B;B	0.24974	0.057;0.04;0.001;0.012	T	0.72701	-0.4214	10	0.21540	T	0.41	.	11.2529	0.49037	0.0:0.9132:0.0:0.0868	.	1736;1444;1751;1771	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	S	1751;1771;1736;1444;130	ENSP00000288133:P1751S;ENSP00000288139:P1771S;ENSP00000409174:P1736S;ENSP00000418014:P1444S	ENSP00000288139:P1771S	P	+	1	0	CACNA1D	53810335	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.781000	0.47750	2.334000	0.79466	0.462000	0.41574	CCC	CACNA1D	-	NULL		0.453	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	C	NM_000720		53835295	+1	no_errors	ENST00000288139	ensembl	human	known	70_37	missense	SNP	1.000	T
CACNA1S	779	genome.wustl.edu	37	1	201058460	201058460	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:201058460C>T	ENST00000362061.3	-	6	1052	c.826G>A	c.(826-828)Gac>Aac	p.D276N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.D276N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	276					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|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)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGAAGTTGTCGAAGTGGGTG	0.642																																																	0													101.0	82.0	88.0					1																	201058460		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.826G>A	1.37:g.201058460C>T	ENSP00000355192:p.Asp276Asn		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.D276N	ENST00000362061.3	37	c.826	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.421988	0.96111	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97529	-4.42;-4.42	4.85	4.85	0.62838	Ion transport (1);	0.048517	0.85682	D	0.000000	D	0.98729	0.9573	M	0.92880	3.355	0.58432	D	0.999999	D	0.76494	0.999	D	0.65684	0.937	D	0.99780	1.1027	10	0.87932	D	0	.	18.313	0.90207	0.0:1.0:0.0:0.0	.	276	Q13698	CAC1S_HUMAN	N	276	ENSP00000355192:D276N;ENSP00000356307:D276N	ENSP00000355192:D276N	D	-	1	0	CACNA1S	199325083	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	7.596000	0.82721	2.411000	0.81874	0.650000	0.86243	GAC	CACNA1S	-	pfam_Ion_trans_dom		0.642	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	C	NM_000069		201058460	-1	no_errors	ENST00000362061	ensembl	human	known	70_37	missense	SNP	1.000	T
CACNA2D1	781	genome.wustl.edu	37	7	81642812	81642812	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:81642812T>G	ENST00000356253.5	-	14	1492	c.1237A>C	c.(1237-1239)Att>Ctt	p.I413L	MIR1255B1_ENST00000454066.1_RNA|CACNA2D1_ENST00000464354.1_5'UTR|MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.I413L			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	413	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATGGAAGGAATTTCATAATAA	0.189																																																	0													8.0	9.0	8.0					7																	81642812		1853	3749	5602	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1237A>C	7.37:g.81642812T>G	ENSP00000348589:p.Ile413Leu		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.I413L	ENST00000356253.5	37	c.1237		7	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343480	0.82022	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.81739	-1.53;-1.53	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.81870	0.4914	L	0.39397	1.21	0.80722	D	1	D	0.57571	0.98	P	0.55999	0.789	T	0.81519	-0.0896	10	0.40728	T	0.16	-23.6935	13.5211	0.61568	0.0:0.0:0.0:1.0	.	413	P54289-2	.	L	413	ENSP00000349320:I413L;ENSP00000348589:I413L	ENSP00000284088:I413L	I	-	1	0	CACNA2D1	81480748	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.375000	0.79646	2.183000	0.69458	0.383000	0.25322	ATT	CACNA2D1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.189	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		T			81642812	-1	no_errors	ENST00000356253	ensembl	human	known	70_37	missense	SNP	1.000	G
CACNB1	782	genome.wustl.edu	37	17	37343683	37343683	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:37343683C>T	ENST00000394303.3	-	4	622				CACNB1_ENST00000394310.3_Intron|CACNB1_ENST00000582877.1_Intron|CACNB1_ENST00000344140.5_Intron	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit						axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	agcactctggctgcctgtctc	0.562																																					Esophageal Squamous(5;100 366 38393 41452 45827)												0													64.0	47.0	53.0					17																	37343683		2203	4300	6503	SO:0001627	intron_variant	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.414+48G>A	17.37:g.37343683C>T			A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	RNA	SNP	-	NULL	ENST00000394303.3	37	NULL	CCDS42311.1	17																																																																																			CACNB1	-	-		0.562	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	C			37343683	-1	no_errors	ENST00000577582	ensembl	human	known	70_37	rna	SNP	0.003	T
CADPS	8618	genome.wustl.edu	37	3	62467447	62467447	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:62467447T>G	ENST00000383710.4	-	22	3473	c.3124A>C	c.(3124-3126)Atg>Ctg	p.M1042L	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1042	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAAGTAGGCATTTGTGGGATG	0.423																																																	0													221.0	210.0	213.0					3																	62467447		1911	4128	6039	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3124A>C	3.37:g.62467447T>G	ENSP00000373215:p.Met1042Leu		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.M1042L	ENST00000383710.4	37	c.3124	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.784|6.784	0.513698|0.513698	0.12944|0.12944	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000383709;ENST00000383710	.|T	.|0.26660	.|1.72	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Munc13 homology 1 (1);	.|0.092218	.|0.64402	.|D	.|0.000001	T|T	0.22666|0.22666	0.0547|0.0547	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B	.|0.27068	.|0.167	.|B	.|0.41332	.|0.354	T|T	0.14839|0.14839	-1.0458|-1.0458	5|10	.|0.16896	.|T	.|0.51	.|.	15.5084|15.5084	0.75760|0.75760	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1042	.|Q9ULU8	.|CAPS1_HUMAN	N|L	28|1042	.|ENSP00000373215:M1042L	.|ENSP00000373214:M1042L	K|M	-|-	3|1	2|0	CADPS|CADPS	62442487|62442487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.655000|7.655000	0.83696|0.83696	2.134000|2.134000	0.65973|0.65973	0.460000|0.460000	0.39030|0.39030	AAA|ATG	CADPS	-	NULL		0.423	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	T	NM_003716, NM_183393, NM_183394		62467447	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	missense	SNP	1.000	G
CALML4	91860	genome.wustl.edu	37	15	68497641	68497641	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:68497641C>T	ENST00000467889.1	-	1	258	c.74G>A	c.(73-75)gGa>gAa	p.G25E	CALML4_ENST00000540479.1_5'UTR|CALML4_ENST00000395465.3_Missense_Mutation_p.G25E|RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000448060.2_Missense_Mutation_p.G25E	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	25							calcium ion binding (GO:0005509)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						GCGTTCAGTTCCCTTTCCTCC	0.642																																																	0													66.0	65.0	65.0					15																	68497641		2200	4298	6498	SO:0001583	missense	91860			AF308287	CCDS10226.2, CCDS42052.1, CCDS66808.1	15q22.31	2013-01-10			ENSG00000129007	ENSG00000129007		"""EF-hand domain containing"""	18445	protein-coding gene	gene with protein product							Standard	NM_033429		Approved	MGC4809, NY-BR-20	uc002arb.3	Q96GE6	OTTHUMG00000133287	ENST00000467889.1:c.74G>A	15.37:g.68497641C>T	ENSP00000419081:p.Gly25Glu		B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.G25E	ENST00000467889.1	37	c.74	CCDS10226.2	15	.	.	.	.	.	.	.	.	.	.	C	11.40	1.629053	0.28978	.	.	ENSG00000129007	ENST00000395465;ENST00000448060;ENST00000467889	T;T;T	0.70516	2.05;-0.45;-0.49	4.09	-0.315	0.12746	.	1.329470	0.06099	U	0.664989	T	0.51176	0.1659	N	0.19112	0.55	0.20926	N	0.999823	B;B	0.13594	0.008;0.003	B;B	0.11329	0.006;0.002	T	0.27331	-1.0077	9	.	.	.	.	4.6975	0.12811	0.0:0.4049:0.3016:0.2935	.	25;25	F8W6Y4;Q96GE6	.;CALL4_HUMAN	E	25	ENSP00000378848:G25E;ENSP00000400755:G25E;ENSP00000419081:G25E	.	G	-	2	0	CALML4	66284695	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-1.206000	0.03011	0.005000	0.14708	0.478000	0.44815	GGA	CALML4	-	NULL		0.642	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALML4	HGNC	protein_coding	OTTHUMT00000257067.3	C	NM_033429		68497641	-1	no_errors	ENST00000467889	ensembl	human	known	70_37	missense	SNP	0.001	T
CAMK1D	57118	genome.wustl.edu	37	10	12811675	12811675	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:12811675G>A	ENST00000378847.3	+	5	779	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	CAMK1D_ENST00000378845.1_Missense_Mutation_p.E148K	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TTTCTAGCCCGAAAATCTCTT	0.388																																																	0													94.0	86.0	89.0					10																	12811675		2203	4300	6503	SO:0001583	missense	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.442G>A	10.37:g.12811675G>A	ENSP00000368124:p.Glu148Lys		B0YIY0|Q9HD31	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.E148K	ENST00000378847.3	37	c.442	CCDS7091.1	10	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268500	0.59540	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.48201	0.82;0.82	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.178760	0.47455	D	0.000224	T	0.64821	0.2633	M	0.90814	3.15	0.80722	D	1	P;P	0.43973	0.603;0.823	B;P	0.46049	0.179;0.502	T	0.74737	-0.3564	10	0.87932	D	0	-25.5166	17.7041	0.88303	0.0:0.0:1.0:0.0	.	148;148	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	K	148	ENSP00000368124:E148K;ENSP00000368122:E148K	ENSP00000368122:E148K	E	+	1	0	CAMK1D	12851681	1.000000	0.71417	0.919000	0.36401	0.354000	0.29330	9.864000	0.99589	2.403000	0.81681	0.561000	0.74099	GAA	CAMK1D	-	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		0.388	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1D	HGNC	protein_coding	OTTHUMT00000046820.1	G	NM_020397		12811675	+1	no_errors	ENST00000378847	ensembl	human	known	70_37	missense	SNP	1.000	A
CAMK4	814	genome.wustl.edu	37	5	110818492	110818492	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:110818492T>G	ENST00000282356.4	+	10	1236	c.838T>G	c.(838-840)Tta>Gta	p.L280V	CAMK4_ENST00000512453.1_Missense_Mutation_p.L280V|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGTCAGAAAATTAATTGTTTT	0.413																																																	0													77.0	80.0	79.0					5																	110818492		2202	4300	6502	SO:0001583	missense	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.838T>G	5.37:g.110818492T>G	ENSP00000282356:p.Leu280Val		D3DSZ7	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.L280V	ENST00000282356.4	37	c.838	CCDS4103.1	5	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788372	0.70337	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.55234	0.53;0.53	5.23	1.08	0.20341	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	0.64402	D	0.000006	T	0.73024	0.3534	M	0.89785	3.06	0.44834	D	0.997841	D	0.76494	0.999	D	0.85130	0.997	T	0.74500	-0.3645	10	0.72032	D	0.01	.	9.6028	0.39615	0.0:0.3486:0.0:0.6514	.	280	Q16566	KCC4_HUMAN	V	280	ENSP00000422634:L280V;ENSP00000282356:L280V	ENSP00000282356:L280V	L	+	1	2	CAMK4	110846391	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.426000	0.34870	0.305000	0.22832	0.460000	0.39030	TTA	CAMK4	-	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		0.413	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK4	HGNC	protein_coding	OTTHUMT00000250719.2	T	NM_001744		110818492	+1	no_errors	ENST00000282356	ensembl	human	known	70_37	missense	SNP	0.999	G
CAMSAP1	157922	genome.wustl.edu	37	9	138774900	138774900	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:138774900T>G	ENST00000389532.4	-	2	249	c.185A>C	c.(184-186)gAc>gCc	p.D62A	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.D62A|CAMSAP1_ENST00000312405.6_5'Flank	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	62					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTAGAAAGGGTCTCTGAGGTC	0.532																																																	0													102.0	98.0	99.0					9																	138774900		692	1591	2283	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.185A>C	9.37:g.138774900T>G	ENSP00000374183:p.Asp62Ala		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.D62A	ENST00000389532.4	37	c.185	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043949	0.75732	.	.	ENSG00000130559	ENST00000389532;ENST00000409386	T;T	0.16196	2.37;2.36	5.6	5.6	0.85130	.	0.124730	0.52532	U	0.000069	T	0.41096	0.1144	M	0.74258	2.255	0.58432	D	0.999997	D	0.76494	0.999	P	0.62813	0.907	T	0.32508	-0.9904	10	0.72032	D	0.01	0.7998	16.0768	0.80974	0.0:0.0:0.0:1.0	.	62	Q5T5Y3	CAMP1_HUMAN	A	62	ENSP00000374183:D62A;ENSP00000386420:D62A	ENSP00000374183:D62A	D	-	2	0	CAMSAP1	137914721	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	5.912000	0.69948	2.259000	0.74868	0.533000	0.62120	GAC	CAMSAP1	-	NULL		0.532	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	T	XM_351857		138774900	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	1.000	G
CAND1	55832	genome.wustl.edu	37	12	67698430	67698430	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:67698430A>C	ENST00000545606.1	+	9	1776	c.1339A>C	c.(1339-1341)Agt>Cgt	p.S447R		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	447					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAAAGAAAAAAGTGTGAAGAC	0.393																																																	0													109.0	108.0	109.0					12																	67698430		2203	4300	6503	SO:0001583	missense	55832				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1339A>C	12.37:g.67698430A>C	ENSP00000442318:p.Ser447Arg		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.S447R	ENST00000545606.1	37	c.1339	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	A	18.07	3.542224	0.65198	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047;ENST00000544619	T;T	0.68331	-0.32;-0.32	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	M	0.91717	3.235	0.80722	D	1	P;D	0.64830	0.752;0.994	B;D	0.65684	0.058;0.937	D	0.88063	0.2795	9	.	.	.	-13.879	16.4052	0.83662	1.0:0.0:0.0:0.0	.	447;447	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	R	447;447;289;155	ENSP00000442318:S447R;ENSP00000444089:S155R	.	S	+	1	0	CAND1	65984697	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.307000	0.96226	2.279000	0.76181	0.402000	0.26972	AGT	CAND1	-	superfamily_ARM-type_fold		0.393	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	A	NM_018448		67698430	+1	no_errors	ENST00000299218	ensembl	human	known	70_37	missense	SNP	1.000	C
CANX	821	genome.wustl.edu	37	5	179134136	179134136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:179134136G>A	ENST00000247461.4	+	4	449	c.249G>A	c.(247-249)tgG>tgA	p.W83*	CANX_ENST00000452673.2_Nonsense_Mutation_p.W83*|CANX_ENST00000415618.2_Nonsense_Mutation_p.W118*|CANX_ENST00000512607.2_Intron|CANX_ENST00000503126.1_3'UTR|CANX_ENST00000504734.1_Nonsense_Mutation_p.W83*	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	83					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	TTTACAGGTGGATTTTATCCA	0.343																																																	0													132.0	134.0	133.0					5																	179134136		2203	4300	6503	SO:0001587	stop_gained	821			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.249G>A	5.37:g.179134136G>A	ENSP00000247461:p.Trp83*		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Nonsense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	p.W118*	ENST00000247461.4	37	c.354	CCDS4447.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.933147|5.933147	0.97116|0.97116	.|.	.|.	ENSG00000127022|ENSG00000127022	ENST00000510810|ENST00000514383;ENST00000502296;ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502498;ENST00000513246;ENST00000354394	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47820|.	0.1466|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37596|.	-0.9699|.	4|.	.|0.02654	.|T	.|1	-7.8154|-7.8154	19.665|19.665	0.95890|0.95890	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	52|83;83;83;118;83;83;83;83;75	.|.	.|ENSP00000247461:W83X	G|W	+|+	2|3	0|0	CANX|CANX	179066742|179066742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.843000|9.843000	0.99491|0.99491	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GGA|TGG	CANX	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf		0.343	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	HGNC	protein_coding	OTTHUMT00000253500.2	G	NM_001024649		179134136	+1	no_errors	ENST00000415618	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CAPN12	147968	genome.wustl.edu	37	19	39230811	39230811	+	Silent	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:39230811A>T	ENST00000328867.4	-	5	917	c.609T>A	c.(607-609)gcT>gcA	p.A203A	CAPN12_ENST00000601953.1_Silent_p.A54A|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	203	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AATCCACAAAAGCCTCATTCA	0.612																																																	0													38.0	33.0	35.0					19																	39230811		2203	4300	6503	SO:0001819	synonymous_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.609T>A	19.37:g.39230811A>T				Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.A203	ENST00000328867.4	37	c.609	CCDS12519.1	19																																																																																			CAPN12	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.612	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	A			39230811	-1	no_errors	ENST00000328867	ensembl	human	known	70_37	silent	SNP	0.809	T
CAPN2	824	genome.wustl.edu	37	1	223957629	223957629	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:223957629C>T	ENST00000295006.5	+	17	2133				CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Intron	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit						blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CCCAGAGATGCGGGTGGATCT	0.473																																																	0													59.0	55.0	56.0					1																	223957629		2203	4300	6503	SO:0001627	intron_variant	824			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1824+18C>T	1.37:g.223957629C>T			A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	RNA	SNP	-	NULL	ENST00000295006.5	37	NULL	CCDS31035.1	1																																																																																			CAPN2	-	-		0.473	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	C	NM_001748		223957629	+1	no_errors	ENST00000474026	ensembl	human	known	70_37	rna	SNP	0.001	T
CARD11	84433	genome.wustl.edu	37	7	2974166	2974166	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:2974166G>A	ENST00000396946.4	-	10	1842	c.1439C>T	c.(1438-1440)tCg>tTg	p.S480L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	480					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGACTCCTCCGAGGTGGAAGA	0.582			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													113.0	97.0	102.0					7																	2974166		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1439C>T	7.37:g.2974166G>A	ENSP00000380150:p.Ser480Leu		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.S480L	ENST00000396946.4	37	c.1439	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048719	0.55110	.	.	ENSG00000198286	ENST00000396946	T	0.50277	0.75	5.22	5.22	0.72569	.	0.359620	0.26677	N	0.023077	T	0.35537	0.0935	N	0.22421	0.69	0.53688	D	0.999973	B	0.29716	0.255	B	0.18561	0.022	T	0.19778	-1.0295	10	0.51188	T	0.08	-14.9062	17.7627	0.88469	0.0:0.0:1.0:0.0	.	480	Q9BXL7	CAR11_HUMAN	L	480	ENSP00000380150:S480L	ENSP00000380150:S480L	S	-	2	0	CARD11	2940692	1.000000	0.71417	0.804000	0.32291	0.258000	0.26162	6.560000	0.73950	2.458000	0.83093	0.561000	0.74099	TCG	CARD11	-	NULL		0.582	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	G	NM_032415		2974166	-1	no_errors	ENST00000396946	ensembl	human	known	70_37	missense	SNP	0.991	A
CASD1	64921	genome.wustl.edu	37	7	94174995	94174995	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:94174995A>C	ENST00000297273.4	+	12	1902	c.1615A>C	c.(1615-1617)Atc>Ctc	p.I539L		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	539						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCCACAAATAATCCAAAAAAA	0.294																																																	0													107.0	93.0	98.0					7																	94174995		2203	4299	6502	SO:0001583	missense	64921			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1615A>C	7.37:g.94174995A>C	ENSP00000297273:p.Ile539Leu		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.I539L	ENST00000297273.4	37	c.1615	CCDS5636.1	7	.	.	.	.	.	.	.	.	.	.	A	10.18	1.279506	0.23307	.	.	ENSG00000127995	ENST00000297273	T	0.41758	0.99	5.02	5.02	0.67125	.	0.323940	0.32852	N	0.005578	T	0.15046	0.0363	N	0.02539	-0.55	0.22620	N	0.998923	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13548	-1.0505	10	0.18710	T	0.47	.	4.424	0.11495	0.6774:0.1976:0.125:0.0	.	539;539	Q8WZ77;Q96PB1	.;CASD1_HUMAN	L	539	ENSP00000297273:I539L	ENSP00000297273:I539L	I	+	1	0	CASD1	94012931	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.837000	0.55820	2.013000	0.59113	0.402000	0.26972	ATC	CASD1	-	pfam_Cas1_AcylTrans_dom		0.294	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	A	NM_022900		94174995	+1	no_errors	ENST00000297273	ensembl	human	known	70_37	missense	SNP	1.000	C
CAPZA2	830	genome.wustl.edu	37	7	116528223	116528223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:116528223G>T	ENST00000361183.3	+	2	221	c.82G>T	c.(82-84)Gaa>Taa	p.E28*	CAPZA2_ENST00000458284.2_Nonsense_Mutation_p.E28*|CAPZA2_ENST00000490693.1_Nonsense_Mutation_p.E28*	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	28					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.E28*(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CCCTCCTGGAGAATTTAATGA	0.338																																																	1	Substitution - Nonsense(1)	large_intestine(1)											92.0	95.0	94.0					7																	116528223		2203	4298	6501	SO:0001587	stop_gained	830				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.82G>T	7.37:g.116528223G>T	ENSP00000354947:p.Glu28*		B4DG50	Nonsense_Mutation	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.E28*	ENST00000361183.3	37	c.82	CCDS5768.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	23.9|23.9	4.471051|4.471051	0.84533|0.84533	.|.	.|.	ENSG00000198898|ENSG00000198898	ENST00000464223;ENST00000484325|ENST00000361183;ENST00000458284;ENST00000490693	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.81574|.	0.4851|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82973|.	-0.0191|.	5|.	0.87932|0.87932	D|D	0|0	-19.3167|-19.3167	18.9609|18.9609	0.92677|0.92677	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	5|28	.|.	ENSP00000420640:E5D|ENSP00000354947:E28X	E|E	+|+	3|1	2|0	CAPZA2|CAPZA2	116315459|116315459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.490000|7.490000	0.81461|0.81461	2.776000|2.776000	0.95493|0.95493	0.586000|0.586000	0.80456|0.80456	GAG|GAA	CAPZA2	-	pfam_WASH_F-actin_cap_alpha		0.338	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA2	HGNC	protein_coding	OTTHUMT00000059506.4	G	NM_006136		116528223	+1	no_errors	ENST00000361183	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CASKIN2	57513	genome.wustl.edu	37	17	73498214	73498214	+	Missense_Mutation	SNP	C	C	T	rs200351544		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:73498214C>T	ENST00000321617.3	-	18	3527	c.2941G>A	c.(2941-2943)Gat>Aat	p.D981N	CASKIN2_ENST00000433559.2_Missense_Mutation_p.D899N	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	981	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTTGAAATCGAGGCCGGGG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		11238	0.0		0.0	False		,,,				2504	0.001																0													21.0	31.0	28.0					17																	73498214		2108	4198	6306	SO:0001583	missense	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2941G>A	17.37:g.73498214C>T	ENSP00000325355:p.Asp981Asn		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.D981N	ENST00000321617.3	37	c.2941	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180758	0.38511	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70399	-0.48;-0.3	5.17	3.11	0.35812	.	0.278476	0.25202	N	0.032377	T	0.55465	0.1922	L	0.40543	1.245	0.80722	D	1	B	0.32781	0.384	B	0.24974	0.057	T	0.53620	-0.8413	10	0.54805	T	0.06	.	7.1954	0.25849	0.0:0.5756:0.3365:0.0879	.	981	Q8WXE0	CSKI2_HUMAN	N	981;899	ENSP00000325355:D981N;ENSP00000406963:D899N	ENSP00000325355:D981N	D	-	1	0	CASKIN2	71009809	0.996000	0.38824	0.112000	0.21494	0.147000	0.21601	3.573000	0.53856	0.711000	0.32018	-0.282000	0.10007	GAT	CASKIN2	-	NULL		0.657	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	C	NM_020753		73498214	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	missense	SNP	0.752	T
CASP14	23581	genome.wustl.edu	37	19	15164574	15164574	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:15164574C>A	ENST00000427043.3	+	4	516	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.Q70K	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	70					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						AAAATTCCAGCAGGCCATCGA	0.547																																																	0													60.0	57.0	58.0					19																	15164574		2203	4300	6503	SO:0001583	missense	23581				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.208C>A	19.37:g.15164574C>A	ENSP00000393417:p.Gln70Lys		O95823|Q3SYC9	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.Q70K	ENST00000427043.3	37	c.208	CCDS12323.1	19	.	.	.	.	.	.	.	.	.	.	c	14.29	2.489971	0.44249	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.19806	2.12;2.12	4.91	-0.669	0.11388	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	1.463350	0.03876	N	0.276469	T	0.16685	0.0401	N	0.24115	0.695	0.27776	N	0.943336	P	0.38827	0.649	B	0.41299	0.353	T	0.26189	-1.0110	10	0.02654	T	1	.	14.6561	0.68833	0.0:0.2803:0.7197:0.0	.	70	P31944	CASPE_HUMAN	K	70	ENSP00000393417:Q70K;ENSP00000221740:Q70K	ENSP00000221740:Q70K	Q	+	1	0	CASP14	15025574	0.023000	0.18921	0.291000	0.24904	0.782000	0.44232	-0.400000	0.07241	0.058000	0.16222	0.306000	0.20318	CAG	CASP14	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.547	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1	C	NM_012114		15164574	+1	no_errors	ENST00000221740	ensembl	human	known	70_37	missense	SNP	0.585	A
CASP6	839	genome.wustl.edu	37	4	110617577	110617577	+	Missense_Mutation	SNP	T	T	G	rs377529968		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:110617577T>G	ENST00000265164.2	-	4	373	c.296A>C	c.(295-297)aAa>aCa	p.K99T	CASP6_ENST00000352981.3_Intron|CASP6_ENST00000510324.1_5'Flank|CASP6_ENST00000505486.1_Intron	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	99					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		CTCATGAATTTTGAGCAGTAG	0.328																																																	0													92.0	87.0	89.0					4																	110617577		2201	4300	6501	SO:0001583	missense	839			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.296A>C	4.37:g.110617577T>G	ENSP00000265164:p.Lys99Thr		Q9BQE7	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,prints_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20	p.K99T	ENST00000265164.2	37	c.296	CCDS3684.1	4	.	.	.	.	.	.	.	.	.	.	T	11.97	1.797537	0.31777	.	.	ENSG00000138794	ENST00000265164;ENST00000503684	T;T	0.20881	2.04;2.04	5.83	0.0734	0.14390	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.284151	0.42964	N	0.000626	T	0.11281	0.0275	N	0.17474	0.49	0.09310	N	0.999993	B	0.10296	0.003	B	0.26770	0.073	T	0.24799	-1.0150	10	0.34782	T	0.22	.	6.8731	0.24131	0.0:0.1969:0.2263:0.5768	.	99	P55212	CASP6_HUMAN	T	99;81	ENSP00000265164:K99T;ENSP00000427669:K81T	ENSP00000265164:K99T	K	-	2	0	CASP6	110837026	0.648000	0.27313	0.931000	0.37212	0.975000	0.68041	0.449000	0.21744	0.119000	0.18210	0.528000	0.53228	AAA	CASP6	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,prints_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.328	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP6	HGNC	protein_coding	OTTHUMT00000254866.1	T	NM_001226		110617577	-1	no_errors	ENST00000265164	ensembl	human	known	70_37	missense	SNP	0.091	G
CASP8AP2	9994	genome.wustl.edu	37	6	90572018	90572018	+	RNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:90572018A>C	ENST00000551025.1	+	0	2027									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCACTGCCAAATCTGGAAAAG	0.373																																					Colon(187;1656 2025 17045 31481 39901)												0													199.0	185.0	190.0					6																	90572018		1892	4111	6003			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572018A>C				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-		0.373	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		A	NM_001137667		90572018	+1	no_errors	ENST00000237177	ensembl	human	known	70_37	rna	SNP	0.005	C
CATSPER4	378807	genome.wustl.edu	37	1	26526467	26526467	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:26526467T>C	ENST00000456354.2	+	7	972	c.905T>C	c.(904-906)tTc>tCc	p.F302S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	302					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAACCTGTTCGTCATCGTG	0.512																																																	0													166.0	102.0	124.0					1																	26526467		2203	4300	6503	SO:0001583	missense	378807			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.905T>C	1.37:g.26526467T>C	ENSP00000390423:p.Phe302Ser		A1A4W6|Q5VY71	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.F302S	ENST00000456354.2	37	c.905	CCDS30645.1	1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620970	0.46736	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.98792	-5.14;-5.14	5.15	4.02	0.46733	Ion transport (1);	0.306162	0.22779	N	0.055741	D	0.97798	0.9277	M	0.84219	2.685	0.29067	N	0.883544	P;P	0.42584	0.784;0.744	B;B	0.42522	0.39;0.201	D	0.95837	0.8863	10	0.87932	D	0	-2.7179	7.6961	0.28596	0.0:0.0968:0.0:0.9032	.	302;286	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	S	302	ENSP00000341006:F302S;ENSP00000390423:F302S	ENSP00000341006:F302S	F	+	2	0	CATSPER4	26399054	1.000000	0.71417	0.967000	0.41034	0.659000	0.38960	3.094000	0.50227	0.919000	0.36945	0.383000	0.25322	TTC	CATSPER4	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.512	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER4	HGNC	protein_coding	OTTHUMT00000019849.2	T	NM_198137		26526467	+1	no_errors	ENST00000456354	ensembl	human	known	70_37	missense	SNP	0.995	C
CBX3	11335	genome.wustl.edu	37	7	26248030	26248030	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:26248030A>C	ENST00000337620.4	+	4	613	c.185A>C	c.(184-186)gAa>gCa	p.E62A	CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000396386.2_Missense_Mutation_p.E62A|CBX3_ENST00000409747.1_Intron	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	62	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						AATACTTGGGAACCTGAAGAA	0.294																																																	0													48.0	52.0	50.0					7																	26248030		2203	4299	6502	SO:0001583	missense	11335			U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.185A>C	7.37:g.26248030A>C	ENSP00000336687:p.Glu62Ala		Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Missense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.E62A	ENST00000337620.4	37	c.185	CCDS5398.1	7	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047069	0.75846	.	.	ENSG00000122565	ENST00000337620;ENST00000396386;ENST00000456948	D;D;D	0.84873	-1.91;-1.91;-1.91	5.35	5.35	0.76521	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96166	0.8750	H	0.99834	4.825	0.80722	D	1	D	0.64830	0.994	D	0.68765	0.96	D	0.98264	1.0500	10	0.87932	D	0	.	15.6276	0.76874	1.0:0.0:0.0:0.0	.	62	Q13185	CBX3_HUMAN	A	62	ENSP00000336687:E62A;ENSP00000379670:E62A;ENSP00000408672:E62A	ENSP00000336687:E62A	E	+	2	0	CBX3	26214555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.938000	0.92943	2.150000	0.67090	0.533000	0.62120	GAA	CBX3	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr		0.294	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX3	HGNC	protein_coding	OTTHUMT00000214117.1	A	NM_007276		26248030	+1	no_errors	ENST00000337620	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC116	164592	genome.wustl.edu	37	22	21989060	21989060	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:21989060G>T	ENST00000292779.3	+	4	869	c.708G>T	c.(706-708)gaG>gaT	p.E236D	CCDC116_ENST00000607942.1_Missense_Mutation_p.E236D	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	236										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GGACACAGGAGCAGCCCTTGT	0.607																																																	0													100.0	105.0	104.0					22																	21989060		2203	4300	6503	SO:0001583	missense	164592			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.708G>T	22.37:g.21989060G>T	ENSP00000292779:p.Glu236Asp		Q8N9Y9	Missense_Mutation	SNP	NULL	p.E236D	ENST00000292779.3	37	c.708	CCDS13791.1	22	.	.	.	.	.	.	.	.	.	.	G	9.699	1.154079	0.21371	.	.	ENSG00000161180	ENST00000292779	T	0.16196	2.36	4.42	0.552	0.17230	.	0.237438	0.29783	N	0.011201	T	0.12475	0.0303	L	0.47190	1.495	0.09310	N	1	B;B	0.24576	0.106;0.09	B;B	0.23419	0.045;0.046	T	0.20207	-1.0282	10	0.87932	D	0	-47.2688	3.5818	0.07957	0.2515:0.0:0.5624:0.1861	.	236;236	B7Z7H5;Q8IYX3-2	.;.	D	236	ENSP00000292779:E236D	ENSP00000292779:E236D	E	+	3	2	CCDC116	20319060	0.181000	0.23161	0.357000	0.25798	0.062000	0.15995	0.240000	0.18042	0.112000	0.17975	0.485000	0.47835	GAG	CCDC116	-	NULL		0.607	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC116	HGNC	protein_coding	OTTHUMT00000320199.1	G	NM_152612		21989060	+1	no_errors	ENST00000292779	ensembl	human	known	70_37	missense	SNP	0.062	T
CBX6	23466	genome.wustl.edu	37	22	39262280	39262280	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:39262280G>A	ENST00000407418.3	-	5	1296	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	CBX6_ENST00000216083.6_Silent_p.F373F			O95503	CBX6_HUMAN	chromobox homolog 6	391					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)	p.F391F(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CCACCTTCTCGAAATCCTCAG	0.647																																																	1	Substitution - coding silent(1)	large_intestine(1)											41.0	42.0	42.0					22																	39262280		2203	4300	6503	SO:0001819	synonymous_variant	23466				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.1173C>T	22.37:g.39262280G>A			A8KAH0|Q96EM5	Silent	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.F391	ENST00000407418.3	37	c.1173	CCDS13980.1	22																																																																																			CBX6	-	NULL		0.647	CBX6-001	KNOWN	basic|CCDS	protein_coding	CBX6	HGNC	protein_coding	OTTHUMT00000318190.1	G	NM_014292		39262280	-1	no_errors	ENST00000407418	ensembl	human	known	70_37	silent	SNP	1.000	A
CCDC142	84865	genome.wustl.edu	37	2	74709300	74709300	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:74709300T>G	ENST00000393965.3	-	1	1061	c.665A>C	c.(664-666)cAc>cCc	p.H222P	CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.H222P	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	222										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CCCTGGGACGTGGCTCAAGGC	0.687																																																	0													41.0	52.0	48.0					2																	74709300		2203	4300	6503	SO:0001583	missense	84865			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.665A>C	2.37:g.74709300T>G	ENSP00000377537:p.His222Pro		B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	NULL	p.H222P	ENST00000393965.3	37	c.665		2	.	.	.	.	.	.	.	.	.	.	T	10.89	1.478951	0.26511	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	D;D	0.85013	-1.93;-1.93	4.58	-3.86	0.04230	.	1.252600	0.05400	N	0.540517	T	0.67850	0.2937	N	0.16478	0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.50259	-0.8849	10	0.35671	T	0.21	0.6504	0.4302	0.00470	0.3095:0.2841:0.1489:0.2575	.	222;222;222	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	P	222	ENSP00000377537:H222P;ENSP00000290418:H222P	ENSP00000290418:H222P	H	-	2	0	CCDC142	74562808	0.000000	0.05858	0.000000	0.03702	0.934000	0.57294	-0.106000	0.10890	-0.543000	0.06240	0.459000	0.35465	CAC	CCDC142	-	NULL		0.687	CCDC142-003	KNOWN	basic	protein_coding	CCDC142	HGNC	protein_coding	OTTHUMT00000328391.1	T	NM_032779		74709300	-1	no_errors	ENST00000393965	ensembl	human	known	70_37	missense	SNP	0.000	G
CCDC144CP	348254	genome.wustl.edu	37	17	20241384	20241384	+	RNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:20241384A>C	ENST00000340196.4	+	0	2808				RN7SL17P_ENST00000583626.1_RNA			Q8IYA2	C144C_HUMAN	coiled-coil domain containing 144C, pseudogene																		AATAAAATGAAATGTAATTTA	0.259																																																	0																																												348254					17p11.2	2013-03-14	2013-03-14	2013-03-14	ENSG00000154898	ENSG00000154898			29073	pseudogene	pseudogene			"""coiled-coil domain containing 144C"""	CCDC144C		11997339	Standard	NR_023380		Approved		uc010cqy.1	Q8IYA2	OTTHUMG00000059513		17.37:g.20241384A>C			B7WNP5	RNA	SNP	-	NULL	ENST00000340196.4	37	NULL		17																																																																																			CCDC144C	-	-		0.259	CCDC144CP-001	KNOWN	basic	processed_transcript	CCDC144C	HGNC	pseudogene	OTTHUMT00000132378.2	A	NR_023380		20241384	+1	no_errors	ENST00000340196	ensembl	human	known	70_37	rna	SNP	0.001	C
CCDC158	339965	genome.wustl.edu	37	4	77296769	77296769	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:77296769C>T	ENST00000388914.3	-	8	1182				CCDC158_ENST00000434846.2_Missense_Mutation_p.R373H	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158											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						TGTCAAAAAGCGAAAGTTAAG	0.358																																																	0																																										SO:0001627	intron_variant	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.1029+3673G>A	4.37:g.77296769C>T			Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	NULL	p.R373H	ENST00000388914.3	37	c.1118	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628528	0.46944	.	.	ENSG00000163749	ENST00000434846	T	0.36699	1.24	5.77	2.13	0.27403	.	.	.	.	.	T	0.24774	0.0601	.	.	.	0.19945	N	0.999944	B	0.06786	0.001	B	0.06405	0.002	T	0.26155	-1.0111	8	0.87932	D	0	.	4.115	0.10077	0.1658:0.5915:0.0:0.2427	.	373	Q5M9N0-3	.	H	373	ENSP00000401742:R373H	ENSP00000401742:R373H	R	-	2	0	CCDC158	77515793	1.000000	0.71417	0.997000	0.53966	0.880000	0.50808	1.304000	0.33482	0.365000	0.24400	0.467000	0.42956	CGC	CCDC158	-	NULL		0.358	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	C	NM_001042784		77296769	-1	no_errors	ENST00000434846	ensembl	human	putative	70_37	missense	SNP	0.998	T
CCDC160	347475	genome.wustl.edu	37	X	133379429	133379429	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:133379429A>G	ENST00000517294.1	+	3	982	c.599A>G	c.(598-600)gAc>gGc	p.D200G	CCDC160_ENST00000370809.4_Missense_Mutation_p.D200G			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	200										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						TCAAAAAGTGACTATGAACTT	0.333																																																	0													27.0	22.0	23.0					X																	133379429		1804	4049	5853	SO:0001583	missense	347475			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.599A>G	X.37:g.133379429A>G	ENSP00000427951:p.Asp200Gly			Missense_Mutation	SNP	NULL	p.D200G	ENST00000517294.1	37	c.599	CCDS48171.1	X	.	.	.	.	.	.	.	.	.	.	A	9.050	0.991966	0.18966	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	D;D	0.91011	-2.77;-2.77	4.77	4.77	0.60923	.	0.000000	0.50627	D	0.000120	D	0.90099	0.6907	L	0.34521	1.04	0.09310	N	1	D	0.61080	0.989	P	0.61132	0.884	T	0.82806	-0.0275	10	0.54805	T	0.06	-13.974	8.6417	0.33981	0.8269:0.0:0.0:0.1731	.	200	A6NGH7	CC160_HUMAN	G	200	ENSP00000427951:D200G;ENSP00000359845:D200G	ENSP00000359845:D200G	D	+	2	0	CCDC160	133207095	0.993000	0.37304	0.012000	0.15200	0.004000	0.04260	3.122000	0.50446	1.680000	0.50976	0.417000	0.27973	GAC	CCDC160	-	NULL		0.333	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	A	NM_001101357		133379429	+1	no_errors	ENST00000370809	ensembl	human	known	70_37	missense	SNP	0.008	G
DRC1	92749	genome.wustl.edu	37	2	26677530	26677530	+	Silent	SNP	G	G	A	rs561986345		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:26677530G>A	ENST00000288710.2	+	15	2009	c.1935G>A	c.(1933-1935)ccG>ccA	p.P645P		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	645					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CGCGGGCCCCGCTGAGGGTAC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20409	0.001		0.0	False		,,,				2504	0.0																0													91.0	84.0	87.0					2																	26677530		2203	4300	6503	SO:0001819	synonymous_variant	92749			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1935G>A	2.37:g.26677530G>A			A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	NULL	p.P645	ENST00000288710.2	37	c.1935	CCDS1723.1	2																																																																																			CCDC164	-	NULL		0.587	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC164	HGNC	protein_coding	OTTHUMT00000246862.1	G	NM_145038		26677530	+1	no_errors	ENST00000288710	ensembl	human	known	70_37	silent	SNP	0.000	A
CCDC168	643677	genome.wustl.edu	37	13	103385004	103385004	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:103385004C>A	ENST00000322527.2	-	1	4155	c.4156G>T	c.(4156-4158)Gca>Tca	p.A1386S		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	1386																	GATTCCTCTGCCTTTAGAGAT	0.448																																																	0													233.0	179.0	195.0					13																	103385004		692	1591	2283	SO:0001583	missense	643677				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.4156G>T	13.37:g.103385004C>A	ENSP00000320232:p.Ala1386Ser		Q8N800	Missense_Mutation	SNP	NULL	p.A1386S	ENST00000322527.2	37	c.4156		13	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561788	0.27915	.	.	ENSG00000175820	ENST00000322527	T	0.05319	3.46	2.24	0.461	0.16689	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	P	0.40619	0.724	B	0.42625	0.393	T	0.41520	-0.9504	9	0.38643	T	0.18	.	4.4724	0.11719	0.0:0.6555:0.0:0.3445	.	1386	Q8NDH2	CC168_HUMAN	S	1386	ENSP00000320232:A1386S	ENSP00000320232:A1386S	A	-	1	0	CCDC168	102183005	0.001000	0.12720	0.004000	0.12327	0.595000	0.36748	0.137000	0.15995	0.082000	0.17018	0.460000	0.39030	GCA	CCDC168	-	NULL		0.448	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		C	NM_001146197		103385004	-1	no_errors	ENST00000322527	ensembl	human	known	70_37	missense	SNP	0.007	A
CCDC168	643677	genome.wustl.edu	37	13	103386961	103386961	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:103386961T>A	ENST00000322527.2	-	1	2198	c.2199A>T	c.(2197-2199)caA>caT	p.Q733H		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	733																	GAGGGATATGTTGCTTTTCAT	0.373																																																	0													195.0	138.0	156.0					13																	103386961		692	1591	2283	SO:0001583	missense	643677				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.2199A>T	13.37:g.103386961T>A	ENSP00000320232:p.Gln733His		Q8N800	Missense_Mutation	SNP	NULL	p.Q733H	ENST00000322527.2	37	c.2199		13	.	.	.	.	.	.	.	.	.	.	T	14.82	2.649121	0.47362	.	.	ENSG00000175820	ENST00000322527	T	0.06933	3.24	3.99	-5.53	0.02552	.	.	.	.	.	T	0.03871	0.0109	N	0.19112	0.55	0.09310	N	1	B	0.33044	0.395	B	0.32289	0.143	T	0.35325	-0.9793	9	0.54805	T	0.06	.	1.127	0.01737	0.1522:0.2922:0.2909:0.2647	.	733	Q8NDH2	CC168_HUMAN	H	733	ENSP00000320232:Q733H	ENSP00000320232:Q733H	Q	-	3	2	CCDC168	102184962	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-1.677000	0.01944	-1.060000	0.03189	-0.400000	0.06385	CAA	CCDC168	-	NULL		0.373	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		T	NM_001146197		103386961	-1	no_errors	ENST00000322527	ensembl	human	known	70_37	missense	SNP	0.000	A
CCDC168	643677	genome.wustl.edu	37	13	103387185	103387185	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:103387185C>T	ENST00000322527.2	-	1	1974	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	659																	ACCTTCTCTTCCTGATGTTTG	0.378																																																	0													205.0	165.0	177.0					13																	103387185		692	1591	2283	SO:0001583	missense	643677				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.1975G>A	13.37:g.103387185C>T	ENSP00000320232:p.Glu659Lys		Q8N800	Missense_Mutation	SNP	NULL	p.E659K	ENST00000322527.2	37	c.1975		13	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450724	0.43531	.	.	ENSG00000175820	ENST00000322527	T	0.05199	3.48	4.13	3.28	0.37604	.	0.463917	0.16003	N	0.234216	T	0.12008	0.0292	L	0.32530	0.975	0.09310	N	1	D	0.67145	0.996	D	0.70487	0.969	T	0.19943	-1.0290	10	0.14656	T	0.56	.	10.2499	0.43362	0.0:0.8005:0.1995:0.0	.	659	Q8NDH2	CC168_HUMAN	K	659	ENSP00000320232:E659K	ENSP00000320232:E659K	E	-	1	0	CCDC168	102185186	0.000000	0.05858	0.084000	0.20598	0.153000	0.21895	0.191000	0.17076	1.297000	0.44761	0.563000	0.77884	GAA	CCDC168	-	NULL		0.378	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		C	NM_001146197		103387185	-1	no_errors	ENST00000322527	ensembl	human	known	70_37	missense	SNP	0.147	T
CCDC170	80129	genome.wustl.edu	37	6	151936779	151936779	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:151936779A>C	ENST00000239374.7	+	10	2011	c.1912A>C	c.(1912-1914)Aaa>Caa	p.K638Q	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.K645Q	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	638																	GACACTAAAAAAATCTCTGGA	0.393																																																	0													132.0	129.0	130.0					6																	151936779		1821	4075	5896	SO:0001583	missense	80129			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1912A>C	6.37:g.151936779A>C	ENSP00000239374:p.Lys638Gln		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.K645Q	ENST00000239374.7	37	c.1933	CCDS43515.1	6	.	.	.	.	.	.	.	.	.	.	A	11.78	1.739419	0.30774	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08807	3.05;3.05	5.95	4.77	0.60923	.	0.390641	0.28853	N	0.013923	T	0.03608	0.0103	M	0.72118	2.19	0.09310	N	1	B	0.29862	0.259	B	0.29862	0.108	T	0.39292	-0.9621	10	0.19590	T	0.45	-8.5428	8.9396	0.35722	0.7435:0.1312:0.0:0.1252	.	638	Q8IYT3	CF097_HUMAN	Q	638;645	ENSP00000239374:K638Q;ENSP00000356259:K645Q	ENSP00000239374:K638Q	K	+	1	0	C6orf97	151978472	0.385000	0.25172	0.035000	0.18076	0.956000	0.61745	3.518000	0.53451	1.044000	0.40200	0.533000	0.62120	AAA	CCDC170	-	NULL		0.393	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	HGNC	protein_coding	OTTHUMT00000042727.2	A	NM_025059		151936779	+1	no_errors	ENST00000367290	ensembl	human	known	70_37	missense	SNP	0.001	C
CCDC171	203238	genome.wustl.edu	37	9	15728012	15728012	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:15728012A>G	ENST00000380701.3	+	15	2166	c.1838A>G	c.(1837-1839)gAc>gGc	p.D613G	CCDC171_ENST00000297641.3_Missense_Mutation_p.D613G	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	613																	CTGATTGCAGACCTCAACAGG	0.448																																																	0													129.0	109.0	115.0					9																	15728012		2203	4300	6503	SO:0001583	missense	203238			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1838A>G	9.37:g.15728012A>G	ENSP00000370077:p.Asp613Gly		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.D613G	ENST00000380701.3	37	c.1838	CCDS6481.1	9	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692878	0.68271	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.61392	0.11;0.11	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.65734	-0.6096	10	0.39692	T	0.17	-15.0975	16.075	0.80962	1.0:0.0:0.0:0.0	.	621;613;613	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	G	613	ENSP00000297641:D613G;ENSP00000370077:D613G	ENSP00000297641:D613G	D	+	2	0	C9orf93	15718012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.164000	0.89661	2.195000	0.70347	0.533000	0.62120	GAC	CCDC171	-	superfamily_STAT_TF_coiled-coil		0.448	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	A	NM_173550		15728012	+1	no_errors	ENST00000380701	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC174	51244	genome.wustl.edu	37	3	14693368	14693368	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:14693368G>A	ENST00000383794.3	+	1	98	c.25G>A	c.(25-27)Gac>Aac	p.D9N	AC090952.5_ENST00000424242.1_RNA|CCDC174_ENST00000303688.7_Missense_Mutation_p.D9N	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	9						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAAGCCTTTGGACGTCACGGC	0.582																																																	0													65.0	70.0	68.0					3																	14693368		1959	4146	6105	SO:0001583	missense	51244			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.25G>A	3.37:g.14693368G>A	ENSP00000373304:p.Asp9Asn		Q96CS5	Missense_Mutation	SNP	NULL	p.D9N	ENST00000383794.3	37	c.25	CCDS2620.2	3	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355157	0.41700	.	.	ENSG00000154781	ENST00000383794;ENST00000303688	T;T	0.41065	1.01;1.05	4.61	4.61	0.57282	.	0.416587	0.26112	N	0.026275	T	0.31358	0.0794	N	0.20766	0.605	0.38563	D	0.949756	B	0.24823	0.112	B	0.23574	0.047	T	0.21484	-1.0244	10	0.48119	T	0.1	-18.533	16.3916	0.83542	0.0:0.0:1.0:0.0	.	9	Q6PII3	CC019_HUMAN	N	9	ENSP00000373304:D9N;ENSP00000302344:D9N	ENSP00000302344:D9N	D	+	1	0	C3orf19	14668372	1.000000	0.71417	0.998000	0.56505	0.610000	0.37248	5.912000	0.69948	2.388000	0.81334	0.467000	0.42956	GAC	CCDC174	-	NULL		0.582	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC174	HGNC	protein_coding	OTTHUMT00000252077.2	G	NM_016474		14693368	+1	no_errors	ENST00000383794	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC175	729665	genome.wustl.edu	37	14	59992110	59992110	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:59992110T>G	ENST00000537690.2	-	16	1940	c.1885A>C	c.(1885-1887)Agc>Cgc	p.S629R	RP11-701B16.2_ENST00000554253.1_RNA|CCDC175_ENST00000281581.4_Missense_Mutation_p.S629R	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	629																	TTTTTTTTGCTTTCTTGATCT	0.328																																																	0													417.0	315.0	346.0					14																	59992110		692	1591	2283	SO:0001583	missense	729665				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.1885A>C	14.37:g.59992110T>G	ENSP00000453940:p.Ser629Arg		G3V5J7	Missense_Mutation	SNP	superfamily_Prefoldin	p.S629R	ENST00000537690.2	37	c.1885	CCDS53898.1	14	.	.	.	.	.	.	.	.	.	.	T	16.69	3.194346	0.58017	.	.	ENSG00000151838	ENST00000555041	.	.	.	4.99	2.37	0.29283	.	0.416480	0.23328	N	0.049372	T	0.31263	0.0791	L	0.34521	1.04	0.23724	N	0.997019	.	.	.	.	.	.	T	0.12528	-1.0544	7	0.26408	T	0.33	-2.2076	7.1081	0.25374	0.365:0.0:0.0:0.635	.	.	.	.	R	629	.	ENSP00000281581:S629R	S	-	1	0	C14orf38	59061863	0.959000	0.32827	0.892000	0.35008	0.166000	0.22503	1.114000	0.31196	0.968000	0.38212	0.533000	0.62120	AGC	CCDC175	-	NULL		0.328	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC175	HGNC	protein_coding	OTTHUMT00000471273.1	T	NM_001164399		59992110	-1	no_errors	ENST00000281581	ensembl	human	known	70_37	missense	SNP	0.713	G
CCDC38	120935	genome.wustl.edu	37	12	96300199	96300199	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:96300199A>C	ENST00000344280.3	-	5	892	c.335T>G	c.(334-336)tTt>tGt	p.F112C		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	112										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCATTAATAAATTCATGGAC	0.343																																																	0													81.0	77.0	79.0					12																	96300199		2203	4300	6503	SO:0001583	missense	120935			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.335T>G	12.37:g.96300199A>C	ENSP00000345470:p.Phe112Cys		Q8N835	Missense_Mutation	SNP	NULL	p.F112C	ENST00000344280.3	37	c.335	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655215	0.67472	.	.	ENSG00000165972	ENST00000344280	T	0.21361	2.01	4.98	4.98	0.66077	.	0.207947	0.42420	D	0.000706	T	0.46776	0.1410	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.50634	-0.8805	10	0.87932	D	0	-18.6485	10.9763	0.47467	1.0:0.0:0.0:0.0	.	112	Q502W7	CCD38_HUMAN	C	112	ENSP00000345470:F112C	ENSP00000345470:F112C	F	-	2	0	CCDC38	94824330	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.007000	0.57093	2.093000	0.63338	0.459000	0.35465	TTT	CCDC38	-	NULL		0.343	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	A	NM_182496		96300199	-1	no_errors	ENST00000344280	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC47	57003	genome.wustl.edu	37	17	61843464	61843464	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:61843464A>C	ENST00000225726.5	-	2	454	c.72T>G	c.(70-72)gaT>gaG	p.D24E	CCDC47_ENST00000403162.3_Missense_Mutation_p.D24E|CCDC47_ENST00000582252.1_Missense_Mutation_p.D24E	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	24					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CATCCTCAAAATCATCAAACT	0.408																																																	0													147.0	131.0	137.0					17																	61843464		2203	4300	6503	SO:0001583	missense	57003			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.72T>G	17.37:g.61843464A>C	ENSP00000225726:p.Asp24Glu		B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	pfam_DUF1682	p.D24E	ENST00000225726.5	37	c.72	CCDS11643.1	17	.	.	.	.	.	.	.	.	.	.	A	11.70	1.715702	0.30413	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	4.89	2.67	0.31697	.	0.201993	0.51477	D	0.000084	T	0.24431	0.0592	N	0.14661	0.345	0.40376	D	0.979397	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.06752	-1.0809	9	0.09590	T	0.72	-15.1076	0.9534	0.01381	0.5166:0.1476:0.1743:0.1615	.	24;24	Q96A33-2;Q96A33	.;CCD47_HUMAN	E	24	.	ENSP00000225726:D24E	D	-	3	2	CCDC47	59197196	0.951000	0.32395	0.995000	0.50966	0.766000	0.43426	0.077000	0.14738	0.448000	0.26722	0.455000	0.32223	GAT	CCDC47	-	NULL		0.408	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC47	HGNC	protein_coding	OTTHUMT00000444016.2	A	NM_020198		61843464	-1	no_errors	ENST00000225726	ensembl	human	known	70_37	missense	SNP	0.998	C
CCDC53	51019	genome.wustl.edu	37	12	102439876	102439876	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:102439876G>A	ENST00000240079.6	-	3	333	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Missense_Mutation_p.R58C	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	58						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)		p.R58C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGTTGGATACGAAGTGAAAGG	0.294																																																	1	Substitution - Missense(1)	large_intestine(1)											47.0	43.0	44.0					12																	102439876		1796	4062	5858	SO:0001583	missense	51019			AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.172C>T	12.37:g.102439876G>A	ENSP00000240079:p.Arg58Cys		B2RC74|Q53FF0|Q6IAI4|Q96QK0	Missense_Mutation	SNP	pfam_WASH_CCDC53	p.R58C	ENST00000240079.6	37	c.172	CCDS44959.1	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323109	0.81580	.	.	ENSG00000120860	ENST00000240079;ENST00000545679;ENST00000542923	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	M	0.87547	2.89	0.80722	D	1	P;D	0.54207	0.836;0.965	B;B	0.43194	0.212;0.411	T	0.76828	-0.2815	9	0.52906	T	0.07	-11.4463	16.3866	0.83507	0.0:0.0:1.0:0.0	.	58;58	F5GZ97;Q9Y3C0	.;CCD53_HUMAN	C	58;58;8	.	ENSP00000240079:R58C	R	-	1	0	CCDC53	100964006	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.063000	0.64332	2.659000	0.90383	0.655000	0.94253	CGT	CCDC53	-	pfam_WASH_CCDC53		0.294	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC53	HGNC	protein_coding	OTTHUMT00000398685.1	G	NM_016053		102439876	-1	no_errors	ENST00000240079	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC62	84660	genome.wustl.edu	37	12	123265839	123265839	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:123265839A>C	ENST00000253079.6	+	3	702	c.358A>C	c.(358-360)Aag>Cag	p.K120Q	CCDC62_ENST00000392441.4_Missense_Mutation_p.K120Q|CCDC62_ENST00000392440.2_Missense_Mutation_p.K18T|CCDC62_ENST00000537566.1_Missense_Mutation_p.K18T	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	120					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AATGGCTCAAAAGGCAACGCA	0.413																																																	0													139.0	124.0	129.0					12																	123265839		2203	4300	6503	SO:0001583	missense	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.358A>C	12.37:g.123265839A>C	ENSP00000253079:p.Lys120Gln		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.K120Q	ENST00000253079.6	37	c.358	CCDS9238.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.89|14.89	2.669569|2.669569	0.47677|0.47677	.|.	.|.	ENSG00000130783|ENSG00000130783	ENST00000253079;ENST00000392441|ENST00000537566;ENST00000392440	T;T|T;T	0.36340|0.48522	1.26;1.26|0.81;0.81	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.149811|0.149811	0.41194|0.41194	D|D	0.000921|0.000921	T|T	0.52075|0.52075	0.1712|0.1712	M|M	0.64997|0.64997	1.995|1.995	0.22142|0.22142	N|N	0.999334|0.999334	D;D|P	0.76494|0.40731	0.999;0.992|0.728	D;P|P	0.71414|0.44359	0.973;0.906|0.447	T|T	0.55049|0.55049	-0.8201|-0.8201	10|10	0.49607|0.87932	T|D	0.09|0	-16.786|-16.786	13.3421|13.3421	0.60551|0.60551	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	120;120|18	Q6P9F0-2;Q6P9F0|Q6P9F0-3	.;CCD62_HUMAN|.	Q|T	120|18	ENSP00000253079:K120Q;ENSP00000376236:K120Q|ENSP00000445045:K18T;ENSP00000376235:K18T	ENSP00000253079:K120Q|ENSP00000376235:K18T	K|K	+|+	1|2	0|0	CCDC62|CCDC62	121831792|121831792	0.999000|0.999000	0.42202|0.42202	0.343000|0.343000	0.25615|0.25615	0.165000|0.165000	0.22458|0.22458	4.505000|4.505000	0.60421|0.60421	2.045000|2.045000	0.60652|0.60652	0.455000|0.455000	0.32223|0.32223	AAG|AAA	CCDC62	-	NULL		0.413	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1	A	NM_032573		123265839	+1	no_errors	ENST00000253079	ensembl	human	known	70_37	missense	SNP	0.802	C
CCDC88B	283234	genome.wustl.edu	37	11	64124660	64124660	+	3'UTR	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:64124660A>G	ENST00000356786.5	+	0	4569				RPS6KA4_ENST00000528057.1_5'Flank|RPS6KA4_ENST00000294261.4_5'Flank|RPS6KA4_ENST00000334205.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.G613G	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B							membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAGCCAGGGACCCCAAGGGG	0.677																																																	0																																										SO:0001624	3_prime_UTR_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.*94A>G	11.37:g.64124660A>G			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	NULL	p.G613	ENST00000356786.5	37	c.1839	CCDS8072.2	11																																																																																			CCDC88B	-	NULL		0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	A	NM_032251		64124660	+1	no_errors	ENST00000359902	ensembl	human	known	70_37	silent	SNP	0.000	G
CCDC83	220047	genome.wustl.edu	37	11	85627172	85627172	+	Missense_Mutation	SNP	G	G	A	rs368704693		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:85627172G>A	ENST00000342404.3	+	10	1192	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	CCDC83_ENST00000280245.4_Missense_Mutation_p.E357K|RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000376067.1_Missense_Mutation_p.E226K			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	326										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAATAGCATCGAAGATCTCCA	0.388																																																	0								G	LYS/GLU	0,4406		0,0,2203	130.0	132.0	131.0		1069	-4.2	0.0	11		131	1,8597	1.2+/-3.3	0,1,4298	no	missense	CCDC83	NM_173556.3	56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	357/445	85627172	1,13003	2203	4299	6502	SO:0001583	missense	220047			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.976G>A	11.37:g.85627172G>A	ENSP00000344512:p.Glu326Lys		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	NULL	p.E357K	ENST00000342404.3	37	c.1069		11	.	.	.	.	.	.	.	.	.	.	G	4.115	0.019566	0.08006	0.0	1.16E-4	ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404	T;T;T	0.44482	0.92;0.92;0.92	5.17	-4.15	0.03881	.	1.673800	0.02687	N	0.110276	T	0.27933	0.0688	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.12604	-1.0541	9	.	.	.	0.474	6.3832	0.21546	0.2493:0.37:0.3807:0.0	.	226;326;357	Q8IWF9-3;Q8IWF9;Q8IWF9-2	.;CCD83_HUMAN;.	K	357;226;326	ENSP00000280245:E357K;ENSP00000365235:E226K;ENSP00000344512:E326K	.	E	+	1	0	CCDC83	85304820	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.816000	0.04477	-0.510000	0.06523	-0.423000	0.05987	GAA	CCDC83	-	NULL		0.388	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	CCDC83	HGNC	protein_coding	OTTHUMT00000392215.1	G	NM_173556		85627172	+1	no_errors	ENST00000280245	ensembl	human	known	70_37	missense	SNP	0.000	A
CCDC81	60494	genome.wustl.edu	37	11	86123534	86123534	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:86123534A>C	ENST00000445632.2	+	11	1596	c.1324A>C	c.(1324-1326)Aac>Cac	p.N442H	CCDC81_ENST00000528728.1_Missense_Mutation_p.N177H|CCDC81_ENST00000278487.3_Missense_Mutation_p.N177H|CCDC81_ENST00000354755.1_Missense_Mutation_p.N352H	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	442										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)				CAGACAGGAAAACGAAATAAA	0.458																																																	0													123.0	113.0	116.0					11																	86123534		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.1324A>C	11.37:g.86123534A>C	ENSP00000415528:p.Asn442His		A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	superfamily_IHF-like_DNA-bd	p.N442H	ENST00000445632.2	37	c.1324	CCDS53691.1	11	.	.	.	.	.	.	.	.	.	.	A	11.65	1.703262	0.30232	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.51	4.35	0.52113	.	0.307696	0.31061	N	0.008323	T	0.28797	0.0714	N	0.22421	0.69	0.23524	N	0.997499	P;B;P	0.38711	0.643;0.002;0.643	B;B;B	0.38056	0.264;0.005;0.264	T	0.08086	-1.0739	9	.	.	.	-14.0703	11.5718	0.50839	0.8501:0.1499:0.0:0.0	.	177;442;352	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	H	352;177;442;177	ENSP00000346800:N352H;ENSP00000278487:N177H;ENSP00000415528:N442H;ENSP00000437165:N177H	.	N	+	1	0	CCDC81	85801182	1.000000	0.71417	0.893000	0.35052	0.171000	0.22731	5.373000	0.66162	0.881000	0.35993	0.533000	0.62120	AAC	CCDC81	-	NULL		0.458	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1	A	NM_021827		86123534	+1	no_errors	ENST00000445632	ensembl	human	known	70_37	missense	SNP	0.960	C
CCL17	6361	genome.wustl.edu	37	16	57448995	57448995	+	Nonsense_Mutation	SNP	C	C	T	rs369547686		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:57448995C>T	ENST00000219244.4	+	3	202	c.73C>T	c.(73-75)Cga>Tga	p.R25*		NM_002987.2	NP_002978.1	Q92583	CCL17_HUMAN	chemokine (C-C motif) ligand 17	25					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|ovary(1)	5						CCCTGCAGCTCGAGGGACCAA	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19170	0.0		0.0	False		,,,				2504	0.0																0								C	stop/ARG	1,4395	2.1+/-5.4	0,1,2197	92.0	93.0	93.0		73	3.9	0.6	16		93	0,8600		0,0,4300	no	stop-gained	CCL17	NM_002987.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		25/95	57448995	1,12995	2198	4300	6498	SO:0001587	stop_gained	6361			D43767	CCDS10780.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000102970	ENSG00000102970		"""Chemokine ligands"", ""Endogenous ligands"""	10615	protein-coding gene	gene with protein product		601520	"""small inducible cytokine subfamily A (Cys-Cys), member 17"""	SCYA17		8702936, 9070951	Standard	NM_002987		Approved	TARC, ABCD-2	uc002elj.1	Q92583	OTTHUMG00000133468	ENST00000219244.4:c.73C>T	16.37:g.57448995C>T	ENSP00000219244:p.Arg25*		A0N0Q9|Q2M287	Nonsense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R25*	ENST00000219244.4	37	c.73	CCDS10780.1	16	.	.	.	.	.	.	.	.	.	.	C	34	5.400279	0.96030	2.27E-4	0.0	ENSG00000102970	ENST00000219244	.	.	.	4.95	3.93	0.45458	.	1.078830	0.07141	N	0.847253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	0.0026	9.7661	0.40561	0.2055:0.7945:0.0:0.0	.	.	.	.	X	25	.	ENSP00000219244:R25X	R	+	1	2	CCL17	56006496	0.517000	0.26226	0.647000	0.29507	0.618000	0.37518	0.694000	0.25512	2.302000	0.77476	0.561000	0.74099	CGA	CCL17	-	superfamily_Chemokine_IL8-like_dom		0.602	CCL17-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CCL17	HGNC	protein_coding	OTTHUMT00000257344.1	C	NM_002987		57448995	+1	no_errors	ENST00000219244	ensembl	human	known	70_37	nonsense	SNP	0.969	T
CCL2	6347	genome.wustl.edu	37	17	32582377	32582377	+	Silent	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:32582377C>A	ENST00000225831.4	+	1	74	c.9C>A	c.(7-9)gtC>gtA	p.V3V	AC005549.3_ENST00000601918.1_5'Flank|CCL2_ENST00000580907.1_Silent_p.V3V	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	3					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|aging (GO:0007568)|angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeleton organization (GO:0007010)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|helper T cell extravasation (GO:0035684)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|maternal process involved in parturition (GO:0060137)|monocyte chemotaxis (GO:0002548)|negative regulation of angiogenesis (GO:0016525)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of natural killer cell chemotaxis (GO:2000502)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|organ regeneration (GO:0031100)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of calcium ion import (GO:0090280)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of T cell activation (GO:0050870)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of vascular endothelial growth factor production (GO:0010574)|response to activity (GO:0014823)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to vitamin B3 (GO:0033552)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	CCR2 chemokine receptor binding (GO:0031727)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Danazol(DB01406)|Mimosine(DB01055)	GCATGAAAGTCTCTGCCGCCC	0.562																																																	0													84.0	70.0	75.0					17																	32582377		2203	4300	6503	SO:0001819	synonymous_variant	6347			BC009716	CCDS11277.1	17q11.2-q21.1	2013-02-25	2002-08-22	2002-08-23	ENSG00000108691	ENSG00000108691		"""Chemokine ligands"", ""Endogenous ligands"""	10618	protein-coding gene	gene with protein product	"""monocyte chemotactic protein 1, homologous to mouse Sig-je"", ""monocyte chemoattractant protein-1"", ""monocyte chemotactic and activating factor"", ""monocyte secretory protein JE"", ""small inducible cytokine subfamily A (Cys-Cys), member 2"""	158105	"""small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)"""	SCYA2		2004761	Standard	NM_002982		Approved	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434	uc002hhy.3	P13500	OTTHUMG00000132887	ENST00000225831.4:c.9C>A	17.37:g.32582377C>A			B2R4V3|Q9UDF3	Silent	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.V3	ENST00000225831.4	37	c.9	CCDS11277.1	17																																																																																			CCL2	-	NULL		0.562	CCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL2	HGNC	protein_coding	OTTHUMT00000256384.2	C	NM_002982		32582377	+1	no_errors	ENST00000225831	ensembl	human	known	70_37	silent	SNP	0.974	A
CCNA1	8900	genome.wustl.edu	37	13	37007341	37007341	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:37007341A>T	ENST00000255465.4	+	2	544	c.280A>T	c.(280-282)Agg>Tgg	p.R94W	CCNA1_ENST00000440264.1_Missense_Mutation_p.R50W|CCNA1_ENST00000449823.1_Missense_Mutation_p.R50W|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Missense_Mutation_p.R93W			P78396	CCNA1_HUMAN	cyclin A1	94					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGGGCAGTACAGGAGGACCTG	0.572																																																	0													52.0	52.0	52.0					13																	37007341		2203	4300	6503	SO:0001583	missense	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.280A>T	13.37:g.37007341A>T	ENSP00000255465:p.Arg94Trp		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.R94W	ENST00000255465.4	37	c.280	CCDS9357.1	13	.	.	.	.	.	.	.	.	.	.	A	17.15	3.314875	0.60524	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.19105	2.25;2.25;2.17;2.18	4.15	-2.22	0.06952	.	0.244954	0.40302	N	0.001130	T	0.33440	0.0863	M	0.62723	1.935	0.35461	D	0.796481	D;D	0.64830	0.994;0.99	D;P	0.64410	0.925;0.781	T	0.31364	-0.9946	10	0.72032	D	0.01	.	8.6383	0.33962	0.3848:0.5345:0.0807:0.0	.	93;94	P78396-2;P78396	.;CCNA1_HUMAN	W	50;50;93;94	ENSP00000400666:R50W;ENSP00000409873:R50W;ENSP00000396479:R93W;ENSP00000255465:R94W	ENSP00000255465:R94W	R	+	1	2	CCNA1	35905341	0.997000	0.39634	0.986000	0.45419	0.666000	0.39218	0.483000	0.22292	-0.584000	0.05913	0.374000	0.22700	AGG	CCNA1	-	pirsf_Cyclin_A/B/D/E		0.572	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2	A	NM_003914		37007341	+1	no_errors	ENST00000255465	ensembl	human	known	70_37	missense	SNP	0.979	T
CCNA2	890	genome.wustl.edu	37	4	122739207	122739207	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:122739207T>G	ENST00000274026.5	-	7	1545	c.1242A>C	c.(1240-1242)aaA>aaC	p.K414N		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	414					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ACTTTGAATTTTTGTACTTTT	0.368																																																	0													92.0	92.0	92.0					4																	122739207		2203	4300	6503	SO:0001583	missense	890				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.1242A>C	4.37:g.122739207T>G	ENSP00000274026:p.Lys414Asn		A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.K414N	ENST00000274026.5	37	c.1242	CCDS3723.1	4	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775037	0.70107	.	.	ENSG00000145386	ENST00000274026	T	0.22336	1.96	6.08	-0.411	0.12370	Cyclin, C-terminal (1);Cyclin-like (2);	0.134464	0.64402	D	0.000003	T	0.24275	0.0588	M	0.68728	2.09	0.44447	D	0.997374	P	0.41947	0.766	B	0.43680	0.427	T	0.05733	-1.0867	10	0.49607	T	0.09	.	10.3465	0.43909	0.0:0.57:0.0:0.43	.	414	P20248	CCNA2_HUMAN	N	414	ENSP00000274026:K414N	ENSP00000274026:K414N	K	-	3	2	CCNA2	122958657	0.845000	0.29573	0.066000	0.19879	0.962000	0.63368	1.549000	0.36212	-0.031000	0.13781	0.482000	0.46254	AAA	CCNA2	-	pfam_Cyclin_C,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E		0.368	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNA2	HGNC	protein_coding	OTTHUMT00000256712.2	T	NM_001237		122739207	-1	no_errors	ENST00000274026	ensembl	human	known	70_37	missense	SNP	0.664	G
CCNF	899	genome.wustl.edu	37	16	2499869	2499869	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:2499869C>A	ENST00000397066.4	+	13	1528	c.1440C>A	c.(1438-1440)ttC>ttA	p.F480L	RP11-715J22.3_ENST00000561653.1_RNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	480					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TCACCGGATTCTCCTATGAAG	0.612																																																	0													147.0	136.0	140.0					16																	2499869		2198	4300	6498	SO:0001583	missense	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1440C>A	16.37:g.2499869C>A	ENSP00000380256:p.Phe480Leu		B2R8H3|Q96EG9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like	p.F480L	ENST00000397066.4	37	c.1440	CCDS10467.1	16	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085545	0.36758	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.21361	2.01	5.2	5.2	0.72013	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	L	0.49513	1.565	0.80722	D	1	P	0.36599	0.56	B	0.37480	0.251	T	0.01982	-1.1235	10	0.41790	T	0.15	-35.9445	15.4697	0.75432	0.0:1.0:0.0:0.0	.	480	P41002	CCNF_HUMAN	L	480;395	ENSP00000380256:F480L	ENSP00000293968:F395L	F	+	3	2	CCNF	2439870	1.000000	0.71417	0.997000	0.53966	0.276000	0.26787	2.914000	0.48797	2.434000	0.82447	0.462000	0.41574	TTC	CCNF	-	pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like		0.612	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	C	NM_001761		2499869	+1	no_errors	ENST00000397066	ensembl	human	known	70_37	missense	SNP	1.000	A
CCNJ	54619	genome.wustl.edu	37	10	97820184	97820184	+	3'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:97820184A>C	ENST00000265992.5	+	0	3672				ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000534974.1_Intron|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J							nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		TGGATTAATAATCTTTTGGGA	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	54619			AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.*2186A>C	10.37:g.97820184A>C			B7Z4E7|Q86XL1|Q9NV69	RNA	SNP	-	NULL	ENST00000265992.5	37	NULL	CCDS7445.1	10																																																																																			CCNJ	-	-		0.318	CCNJ-003	KNOWN	basic|CCDS	protein_coding	CCNJ	HGNC	protein_coding	OTTHUMT00000090166.3	A	NM_019084		97820184	+1	no_errors	ENST00000471424	ensembl	human	known	70_37	rna	SNP	0.811	C
CCNO	10309	genome.wustl.edu	37	5	54527209	54527209	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:54527209C>T	ENST00000282572.4	-	3	1203	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	349					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			TGTTTTATTTCGAGCTCGGGG	0.547																																																	0													62.0	65.0	64.0					5																	54527209		2203	4300	6503	SO:0001819	synonymous_variant	10309			M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"""cyclin U"""	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.1047G>A	5.37:g.54527209C>T			A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.S349	ENST00000282572.4	37	c.1047	CCDS34157.1	5																																																																																			CCNO	-	pirsf_Cyclin_A/B/D/E		0.547	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNO	HGNC	protein_coding	OTTHUMT00000369707.1	C	NM_021147		54527209	-1	no_errors	ENST00000282572	ensembl	human	known	70_37	silent	SNP	0.098	T
CCSAP	126731	genome.wustl.edu	37	1	229462799	229462799	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:229462799T>G	ENST00000366687.1	-	2	419				CCSAP_ENST00000284617.2_Intron|CCSAP_ENST00000366686.1_Intron|CCSAP_ENST00000483092.1_5'UTR			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein						multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											GAAATCAGatttatatataat	0.284																																																	0													45.0	41.0	42.0					1																	229462799		1979	4192	6171	SO:0001627	intron_variant	126731			BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.368-46A>C	1.37:g.229462799T>G			A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	RNA	SNP	-	NULL	ENST00000366687.1	37	NULL	CCDS1577.1	1																																																																																			CCSAP	-	-		0.284	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSAP	HGNC	protein_coding	OTTHUMT00000091839.1	T	NM_145257		229462799	-1	no_errors	ENST00000483092	ensembl	human	known	70_37	rna	SNP	0.000	G
CCT6P3	643180	genome.wustl.edu	37	7	64526724	64526724	+	RNA	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:64526724G>A	ENST00000426828.1	+	0	435				SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CAGAGAGATGGACAAGGAAAC	0.398																																																	0																																												643180					7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64526724G>A				RNA	SNP	-	NULL	ENST00000426828.1	37	NULL		7																																																																																			CCT6P3	-	-		0.398	CCT6P3-004	KNOWN	basic	processed_transcript	CCT6P3	HGNC	pseudogene	OTTHUMT00000344862.1	G			64526724	+1	no_errors	ENST00000426828	ensembl	human	known	70_37	rna	SNP	1.000	A
CD109	135228	genome.wustl.edu	37	6	74492449	74492449	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:74492449G>T	ENST00000287097.5	+	18	2188	c.2076G>T	c.(2074-2076)gaG>gaT	p.E692D	CD109_ENST00000437994.2_Missense_Mutation_p.E692D|CD109_ENST00000422508.2_Missense_Mutation_p.E615D			Q6YHK3	CD109_HUMAN	CD109 molecule	692	Bait region (approximate). {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTTTCCAGAGACTTGGATTT	0.363																																																	0													138.0	130.0	133.0					6																	74492449		2203	4300	6503	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2076G>T	6.37:g.74492449G>T	ENSP00000287097:p.Glu692Asp		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.E692D	ENST00000287097.5	37	c.2076	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714705	0.68730	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.46451	0.87;1.13;0.89	4.58	2.77	0.32553	.	0.059800	0.64402	D	0.000003	T	0.33089	0.0851	N	0.19112	0.55	0.37620	D	0.92125	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.997;0.984	T	0.31280	-0.9949	10	0.62326	D	0.03	.	10.0175	0.42022	0.1658:0.0:0.8342:0.0	.	615;692;692	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	D	692;615;692	ENSP00000388062:E692D;ENSP00000404475:E615D;ENSP00000287097:E692D	ENSP00000287097:E692D	E	+	3	2	CD109	74549170	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.120000	0.41968	0.641000	0.30601	0.650000	0.86243	GAG	CD109	-	NULL		0.363	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	G	NM_133493		74492449	+1	no_errors	ENST00000287097	ensembl	human	known	70_37	missense	SNP	1.000	T
CD180	4064	genome.wustl.edu	37	5	66478749	66478749	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:66478749A>G	ENST00000256447.4	-	3	2079	c.1922T>C	c.(1921-1923)tTg>tCg	p.L641S	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	641					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AATAGCCAACAATAATAGAAA	0.393																																																	0													62.0	64.0	63.0					5																	66478749		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1922T>C	5.37:g.66478749A>G	ENSP00000256447:p.Leu641Ser		B2R7Z7|Q32MM5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L641S	ENST00000256447.4	37	c.1922	CCDS3992.1	5	.	.	.	.	.	.	.	.	.	.	A	4.482	0.089361	0.08632	.	.	ENSG00000134061	ENST00000256447	T	0.38722	1.12	5.17	4.01	0.46588	.	0.788076	0.11096	N	0.600220	T	0.33323	0.0859	L	0.45228	1.405	0.09310	N	1	B	0.29378	0.243	B	0.22753	0.041	T	0.16129	-1.0413	10	0.32370	T	0.25	.	9.1589	0.37009	0.9139:0.0:0.0861:0.0	.	641	Q99467	CD180_HUMAN	S	641	ENSP00000256447:L641S	ENSP00000256447:L641S	L	-	2	0	CD180	66514505	0.001000	0.12720	0.009000	0.14445	0.053000	0.15095	1.372000	0.34261	0.986000	0.38683	0.460000	0.39030	TTG	CD180	-	NULL		0.393	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD180	HGNC	protein_coding	OTTHUMT00000253973.2	A	NM_005582		66478749	-1	no_errors	ENST00000256447	ensembl	human	known	70_37	missense	SNP	0.010	G
CD14	929	genome.wustl.edu	37	5	140012163	140012163	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140012163G>A	ENST00000302014.6	-	2	1035	c.406C>T	c.(406-408)Cct>Tct	p.P136S	CD14_ENST00000401743.2_Missense_Mutation_p.P136S	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	136					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCCAGAGGCAGCGGAGGC	0.617																																																	0													58.0	54.0	56.0					5																	140012163		2203	4300	6503	SO:0001583	missense	929				CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.406C>T	5.37:g.140012163G>A	ENSP00000304236:p.Pro136Ser		Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14	p.P136S	ENST00000302014.6	37	c.406	CCDS4232.1	5	.	.	.	.	.	.	.	.	.	.	G	7.699	0.692787	0.15039	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971	D;D;T	0.90261	-2.64;-2.64;1.6	5.96	4.08	0.47627	.	1.204420	0.06077	N	0.661245	D	0.87680	0.6238	L	0.50333	1.59	0.09310	N	1	B	0.23442	0.085	B	0.20577	0.03	T	0.70494	-0.4856	10	0.10377	T	0.69	0.315	12.5397	0.56163	0.0:0.3212:0.6788:0.0	.	136	P08571	CD14_HUMAN	S	136	ENSP00000304236:P136S;ENSP00000385519:P136S;ENSP00000426543:P136S	ENSP00000304236:P136S	P	-	1	0	CD14	139992347	0.001000	0.12720	0.708000	0.30435	0.156000	0.22039	0.558000	0.23469	1.517000	0.48917	0.655000	0.94253	CCT	CD14	-	pirsf_Monocyte_diff_Ag_CD14		0.617	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD14	HGNC	protein_coding	OTTHUMT00000251681.2	G	NM_000591		140012163	-1	no_errors	ENST00000302014	ensembl	human	known	70_37	missense	SNP	0.098	A
CD200R1L	344807	genome.wustl.edu	37	3	112534815	112534815	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:112534815G>T	ENST00000398214.1	-	6	1036	c.811C>A	c.(811-813)Ctt>Att	p.L271I	CD200R1L_ENST00000488794.1_Missense_Mutation_p.L250I|CD200R1L_ENST00000448932.1_Missense_Mutation_p.L250I	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	271						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						cttctttaaagaacttttctg	0.408																																																	0													66.0	66.0	66.0					3																	112534815		1851	4094	5945	SO:0001583	missense	344807			AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.811C>A	3.37:g.112534815G>T	ENSP00000381272:p.Leu271Ile		Q6WHB7	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like	p.L271I	ENST00000398214.1	37	c.811	CCDS43131.1	3	.	.	.	.	.	.	.	.	.	.	G	2.778	-0.254180	0.05829	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.19938	2.11;2.13;2.13	4.22	1.4	0.22301	.	1.536440	0.04933	U	0.457247	T	0.15998	0.0385	N	0.03608	-0.345	0.09310	N	1	D	0.56968	0.978	P	0.51895	0.683	T	0.26018	-1.0115	10	0.87932	D	0	.	6.5614	0.22489	0.3016:0.0:0.6984:0.0	.	271	Q6Q8B3	MO2R2_HUMAN	I	271;250;250	ENSP00000381272:L271I;ENSP00000418413:L250I;ENSP00000415132:L250I	ENSP00000381272:L271I	L	-	1	0	CD200R1L	114017505	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	0.095000	0.15127	0.298000	0.22638	0.609000	0.83330	CTT	CD200R1L	-	NULL		0.408	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD200R1L	HGNC	protein_coding	OTTHUMT00000354365.1	G	NM_001008784		112534815	-1	no_errors	ENST00000398214	ensembl	human	known	70_37	missense	SNP	0.001	T
CD22	933	genome.wustl.edu	37	19	35823807	35823807	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:35823807G>A	ENST00000085219.5	+	3	458	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	CD22_ENST00000595419.1_3'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.R131Q|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000270311.6_Missense_Mutation_p.R11Q|CD22_ENST00000594250.1_Missense_Mutation_p.R131Q|CD22_ENST00000536635.2_Missense_Mutation_p.R131Q|CD22_ENST00000341773.6_Missense_Mutation_p.R131Q|U62631.5_ENST00000597110.1_RNA	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	131	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGGATGGAACGAATACACCTC	0.552																																					Ovarian(42;1009 1133 23674 26041)												0													83.0	74.0	77.0					19																	35823807		2203	4300	6503	SO:0001583	missense	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.392G>A	19.37:g.35823807G>A	ENSP00000085219:p.Arg131Gln		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R131Q	ENST00000085219.5	37	c.392	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191453	0.38707	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.93	5.26	-6.72	0.01755	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	5.021920	0.00166	N	0.000015	T	0.20536	0.0494	N	0.22421	0.69	0.28003	N	0.935217	B;P;B;B	0.41710	0.336;0.76;0.39;0.299	B;B;B;B	0.30943	0.048;0.122;0.033;0.035	T	0.24048	-1.0171	10	0.16420	T	0.52	.	7.7137	0.28692	0.2854:0.5024:0.2122:0.0	.	131;131;131;131	F5GYU4;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	Q	131;131;131;131;11	ENSP00000085219:R131Q;ENSP00000442279:R131Q;ENSP00000339349:R131Q;ENSP00000441237:R131Q;ENSP00000270311:R11Q	ENSP00000085219:R131Q	R	+	2	0	CD22	40515647	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.389000	0.02530	-1.394000	0.02077	-0.635000	0.03985	CGA	CD22	-	smart_Ig_sub		0.552	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	G	NM_001771		35823807	+1	no_errors	ENST00000085219	ensembl	human	known	70_37	missense	SNP	0.000	A
CD274	29126	genome.wustl.edu	37	9	5466819	5466819	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:5466819G>T	ENST00000381577.3	+	6	926	c.840G>T	c.(838-840)aaG>aaT	p.K280N	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.K166N	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	280					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		CAAACTCAAAGAAGCAAAGTG	0.343			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																			Dom	yes		9	9p24	29126	CD274 molecule		L	0													120.0	114.0	116.0					9																	5466819		2203	4300	6503	SO:0001583	missense	29126			AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17635	protein-coding gene	gene with protein product	"""B7 homolog 1"""	605402	"""programmed cell death 1 ligand 1"", ""CD274 antigen"""	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.840G>T	9.37:g.5466819G>T	ENSP00000370989:p.Lys280Asn		B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like	p.K280N	ENST00000381577.3	37	c.840	CCDS6464.1	9	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248775	0.22880	.	.	ENSG00000120217	ENST00000381573;ENST00000381577	T;T	0.34859	1.34;5.04	4.16	3.25	0.37280	.	0.453441	0.20672	N	0.087819	T	0.27489	0.0675	L	0.44542	1.39	0.27540	N	0.950824	P;P	0.44734	0.842;0.454	B;B	0.38428	0.273;0.15	T	0.19095	-1.0316	10	0.66056	D	0.02	-15.0079	8.4486	0.32858	0.1072:0.0:0.8928:0.0	.	166;280	Q2V8D5;Q9NZQ7	.;PD1L1_HUMAN	N	166;280	ENSP00000370985:K166N;ENSP00000370989:K280N	ENSP00000370985:K166N	K	+	3	2	CD274	5456819	0.077000	0.21312	0.376000	0.26042	0.484000	0.33280	1.508000	0.35769	1.311000	0.45024	0.561000	0.74099	AAG	CD274	-	NULL		0.343	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD274	HGNC	protein_coding	OTTHUMT00000051631.2	G	NM_014143		5466819	+1	no_errors	ENST00000381577	ensembl	human	known	70_37	missense	SNP	0.492	T
CD300A	11314	genome.wustl.edu	37	17	72469814	72469814	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:72469814G>T	ENST00000360141.3	+	2	468	c.180G>T	c.(178-180)aaG>aaT	p.K60N	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	60	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TATGTGACAAGATTGTGGAGA	0.527																																																	0													132.0	113.0	120.0					17																	72469814		2203	4300	6503	SO:0001583	missense	11314			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.180G>T	17.37:g.72469814G>T	ENSP00000353259:p.Lys60Asn		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.K60N	ENST00000360141.3	37	c.180	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397537	0.25205	.	.	ENSG00000167851	ENST00000360141	T	0.04119	3.7	4.06	-6.59	0.01830	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.329134	0.21032	N	0.081337	T	0.02193	0.0068	N	0.25647	0.755	0.09310	N	0.999996	B	0.29571	0.249	B	0.30646	0.118	T	0.41466	-0.9507	10	0.20046	T	0.44	.	2.7032	0.05155	0.0927:0.2422:0.1951:0.47	.	60	Q9UGN4	CLM8_HUMAN	N	60	ENSP00000353259:K60N	ENSP00000353259:K60N	K	+	3	2	CD300A	69981409	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.069000	0.03444	-0.770000	0.04614	0.305000	0.20034	AAG	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.527	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	G	NM_007261		72469814	+1	no_errors	ENST00000360141	ensembl	human	known	70_37	missense	SNP	0.000	T
CD40LG	959	genome.wustl.edu	37	X	135741263	135741263	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:135741263A>G	ENST00000370629.2	+	5	531	c.475A>G	c.(475-477)Aaa>Gaa	p.K159E	CD40LG_ENST00000370628.2_Missense_Mutation_p.K138E	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	159					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)					GGAAAATGGGAAACAGCTGAC	0.438									Immune Deficiency with Hyper-IgM																																								0													231.0	233.0	233.0					X																	135741263		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.475A>G	X.37:g.135741263A>G	ENSP00000359663:p.Lys159Glu			Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5	p.K159E	ENST00000370629.2	37	c.475	CCDS14659.1	X	.	.	.	.	.	.	.	.	.	.	A	20.6	4.014574	0.75161	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.97850	-4.57;-4.57	5.56	5.56	0.83823	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.298622	0.36444	N	0.002587	D	0.96197	0.8760	L	0.39898	1.24	0.37991	D	0.933901	P;P	0.42248	0.774;0.51	P;B	0.44422	0.449;0.321	D	0.97807	1.0248	10	0.87932	D	0	-13.1856	14.401	0.67047	1.0:0.0:0.0:0.0	.	138;159	Q3L8U2;P29965	.;CD40L_HUMAN	E	159;138	ENSP00000359663:K159E;ENSP00000359662:K138E	ENSP00000359662:K138E	K	+	1	0	CD40LG	135568929	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.386000	0.73186	1.865000	0.54081	0.486000	0.48141	AAA	CD40LG	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF		0.438	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	HGNC	protein_coding	OTTHUMT00000058501.1	A	NM_000074		135741263	+1	no_errors	ENST00000370629	ensembl	human	known	70_37	missense	SNP	1.000	G
CD46	4179	genome.wustl.edu	37	1	207934772	207934772	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:207934772T>C	ENST00000358170.2	+	5	810	c.654T>C	c.(652-654)cgT>cgC	p.R218R	CD46_ENST00000441839.2_Silent_p.R218R|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Silent_p.R218R|CD46_ENST00000360212.2_Silent_p.R218R|CD46_ENST00000322875.4_Silent_p.R218R|CD46_ENST00000357714.1_Silent_p.R218R|CD46_ENST00000322918.5_Silent_p.R218R|CD46_ENST00000367047.1_Silent_p.R155R|CD46_ENST00000354848.1_Silent_p.R218R|CD46_ENST00000361067.1_Silent_p.R218R|CD46_ENST00000367041.1_Silent_p.R218R|CD46_ENST00000367042.1_Silent_p.R218R	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	218	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGTGGAGTCGTGCTGCTCCAG	0.363																																																	0													175.0	147.0	156.0					1																	207934772		2203	4300	6503	SO:0001819	synonymous_variant	4179			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.654T>C	1.37:g.207934772T>C			A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP	p.R218	ENST00000358170.2	37	c.654	CCDS1485.1	1																																																																																			CD46	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP		0.363	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3	T	NM_172361		207934772	+1	no_errors	ENST00000322875	ensembl	human	known	70_37	silent	SNP	0.000	C
CD46	4179	genome.wustl.edu	37	1	207940686	207940686	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:207940686C>A	ENST00000358170.2	+	6	1012				CD46_ENST00000441839.2_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Intron|CD46_ENST00000360212.2_Intron|CD46_ENST00000322875.4_Intron|CD46_ENST00000357714.1_Intron|CD46_ENST00000322918.5_Intron|CD46_ENST00000367047.1_Intron|CD46_ENST00000354848.1_Intron|CD46_ENST00000361067.1_Intron|CD46_ENST00000367041.1_Intron|CD46_ENST00000367042.1_Intron	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein						adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GTATTCATTTCTATGCCAGAT	0.303																																																	0																																										SO:0001627	intron_variant	4179			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.856+146C>A	1.37:g.207940686C>A			A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	RNA	SNP	-	NULL	ENST00000358170.2	37	NULL	CCDS1485.1	1																																																																																			CD46	-	-		0.303	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3	C	NM_172361		207940686	+1	no_errors	ENST00000469535	ensembl	human	known	70_37	rna	SNP	0.000	A
CD47	961	genome.wustl.edu	37	3	107763025	107763025	+	IGR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:107763025T>G	ENST00000361309.5	-	0	1285				CD47_ENST00000355354.7_3'UTR|CD47_ENST00000471694.1_5'UTR	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			CAGCTTAATTTTTATTACTGA	0.338																																																	0																																										SO:0001628	intergenic_variant	961				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216		3.37:g.107763025T>G			A8K198|D3DN59|Q53Y71|Q96A60	RNA	SNP	-	NULL	ENST00000361309.5	37	NULL	CCDS43126.1	3																																																																																			CD47	-	-		0.338	CD47-004	KNOWN	basic|CCDS	protein_coding	CD47	HGNC	protein_coding	OTTHUMT00000102793.1	T	NM_001777		107763025	-1	no_errors	ENST00000471694	ensembl	human	known	70_37	rna	SNP	0.172	G
CD5	921	genome.wustl.edu	37	11	60885650	60885650	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:60885650T>C	ENST00000347785.3	+	3	264	c.98T>C	c.(97-99)tTc>tCc	p.F33S		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	33					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCCCCAGATTTCCAGGCAAGG	0.642																																																	0													81.0	87.0	85.0					11																	60885650		2203	4299	6502	SO:0001583	missense	921			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.98T>C	11.37:g.60885650T>C	ENSP00000342681:p.Phe33Ser		A0N0P4|A8K9I3	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Tcell_CD5,prints_Srcr_rcpt	p.F33S	ENST00000347785.3	37	c.98	CCDS8000.1	11	.	.	.	.	.	.	.	.	.	.	T	8.598	0.886110	0.17540	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	T;T	0.28666	1.6;1.6	3.8	0.0291	0.14161	Speract/scavenger receptor-related (1);	1.662350	0.03535	N	0.222967	T	0.19248	0.0462	N	0.24115	0.695	0.09310	N	1	P	0.36330	0.548	B	0.34301	0.179	T	0.15150	-1.0447	10	0.16896	T	0.51	-2.2188	6.2919	0.21065	0.0:0.3269:0.0:0.6731	.	33	P06127	CD5_HUMAN	S	33	ENSP00000342681:F33S;ENSP00000440899:F33S	ENSP00000342681:F33S	F	+	2	0	CD5	60642226	0.000000	0.05858	0.002000	0.10522	0.144000	0.21451	-0.457000	0.06745	-0.007000	0.14345	0.459000	0.35465	TTC	CD5	-	superfamily_Srcr_rcpt-rel		0.642	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5	HGNC	protein_coding	OTTHUMT00000396465.2	T	NM_014207		60885650	+1	no_errors	ENST00000347785	ensembl	human	known	70_37	missense	SNP	0.002	C
CD63	967	genome.wustl.edu	37	12	56119986	56119986	+	Missense_Mutation	SNP	C	C	A	rs483352715		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:56119986C>A	ENST00000549117.1	-	6	922	c.486G>T	c.(484-486)aaG>aaT	p.K162N	CD63_ENST00000548160.1_Missense_Mutation_p.K69N|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000257857.4_Missense_Mutation_p.K162N|CD63_ENST00000552754.1_Missense_Mutation_p.K139N|CD63_ENST00000552067.1_Missense_Mutation_p.K69N|CD63_ENST00000546939.1_Missense_Mutation_p.K80N|CD63_ENST00000550776.1_Missense_Mutation_p.K80N|CD63_ENST00000420846.3_Missense_Mutation_p.K162N|CD63_ENST00000548898.1_Missense_Mutation_p.K69N|CD63_ENST00000552692.1_Missense_Mutation_p.K162N	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	162					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						GGACTCGGTTCTTCGACATGG	0.483																																					Pancreas(123;1459 1747 6717 18841 37380)												0													111.0	110.0	110.0					12																	56119986		2203	4300	6503	SO:0001583	missense	967			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.486G>T	12.37:g.56119986C>A	ENSP00000447730:p.Lys162Asn		F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.K162N	ENST00000549117.1	37	c.486	CCDS8890.1	12	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738627	0.30774	.	.	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173	T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	4.57	1.57	0.23409	Tetraspanin, EC2 domain (1);	0.608948	0.17178	N	0.184016	T	0.49423	0.1556	N	0.10809	0.05	0.09310	N	1	B;B;B	0.25206	0.12;0.001;0.001	B;B;B	0.17979	0.02;0.007;0.007	T	0.22800	-1.0206	10	0.16896	T	0.51	.	1.5738	0.02620	0.1735:0.473:0.1682:0.1853	.	139;162;162	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	N	69;69;162;69;80;162;162;162;139;80;162;162	ENSP00000447938:K69N;ENSP00000449684:K69N;ENSP00000393502:K162N;ENSP00000449654:K69N;ENSP00000447356:K80N;ENSP00000449337:K162N;ENSP00000447730:K162N;ENSP00000257857:K162N;ENSP00000446807:K139N;ENSP00000448091:K80N;ENSP00000449281:K162N;ENSP00000446752:K162N	ENSP00000257857:K162N	K	-	3	2	CD63	54406253	0.000000	0.05858	0.001000	0.08648	0.367000	0.29736	-0.599000	0.05700	0.228000	0.21019	0.591000	0.81541	AAG	CD63	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.483	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD63	HGNC	protein_coding	OTTHUMT00000409234.1	C			56119986	-1	no_errors	ENST00000257857	ensembl	human	known	70_37	missense	SNP	0.004	A
CDC16	8881	genome.wustl.edu	37	13	115011474	115011474	+	Splice_Site	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:115011474G>T	ENST00000356221.3	+	10	955		c.e10-1		CDC16_ENST00000375308.1_Splice_Site|CDC16_ENST00000252458.6_Splice_Site|CDC16_ENST00000375310.1_Splice_Site|CDC16_ENST00000252457.5_Splice_Site|MIR548AR_ENST00000582191.1_RNA|CDC16_ENST00000360383.3_Splice_Site|CDC16_ENST00000375312.3_Splice_Site			Q13042	CDC16_HUMAN	cell division cycle 16						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TTCCTGAACAGAACTTTTCTA	0.279																																																	0													151.0	138.0	142.0					13																	115011474		2201	4296	6497	SO:0001630	splice_region_variant	8881			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.848-1G>T	13.37:g.115011474G>T			A2A365|Q5T8C8|Q96AE6|Q9Y564	Splice_Site	SNP	-	e10-1	ENST00000356221.3	37	c.848-1	CCDS9542.2	13	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837712	0.71373	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC16	114029576	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	8.186000	0.89706	2.873000	0.98535	0.563000	0.77884	.	CDC16	-	-		0.279	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC16	HGNC	protein_coding	OTTHUMT00000276737.1	G	NM_003903	Intron	115011474	+1	no_errors	ENST00000356221	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CDC42BPA	8476	genome.wustl.edu	37	1	227198659	227198659	+	Missense_Mutation	SNP	G	G	T	rs577982040		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:227198659G>T	ENST00000334218.5	-	34	5800	c.4858C>A	c.(4858-4860)Ctc>Atc	p.L1620I	CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000366769.3_Intron|CDC42BPA_ENST00000366764.2_Intron|CDC42BPA_ENST00000366765.3_Intron|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366766.2_Intron					CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCAGGAGAGAGAAATTTTTCA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18417	0.001		0.0	False		,,,				2504	0.0																0													39.0	35.0	36.0					1																	227198659		876	1991	2867	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000334218.5:c.4858C>A	1.37:g.227198659G>T	ENSP00000335341:p.Leu1620Ile			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L1620I	ENST00000334218.5	37	c.4858		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.46|18.46	3.629344|3.629344	0.67015|0.67015	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000334218|ENST00000448940	T|.	0.68624|.	-0.34|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|.	.|.	.|.	.|.	T|T	0.75606|0.75606	0.3872|0.3872	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.67548|.	0.952|.	T|T	0.73313|0.73313	-0.4022|-0.4022	8|4	0.22706|.	T|.	0.39|.	.|.	19.6651|19.6651	0.95890|0.95890	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	822|.	Q5T799|.	.|.	I|Y	1620|822	ENSP00000335341:L1620I|.	ENSP00000335341:L1620I|.	L|S	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225265282|225265282	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.289000|6.289000	0.72696|0.72696	2.722000|2.722000	0.93159|0.93159	0.650000|0.650000	0.86243|0.86243	CTC|TCT	CDC42BPA	-	smart_PAK_box_Rho-bd		0.458	CDC42BPA-201	KNOWN	basic	protein_coding	CDC42BPA	HGNC	protein_coding		G	NM_014826		227198659	-1	no_errors	ENST00000334218	ensembl	human	known	70_37	missense	SNP	1.000	T
CDC42BPA	8476	genome.wustl.edu	37	1	227213836	227213836	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:227213836G>T	ENST00000366769.3	-	30	5636	c.4345C>A	c.(4345-4347)Ctc>Atc	p.L1449I	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L1368I|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L1421I|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L1449I|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L1462I|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L1429I|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L1484I	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TACACCGAGAGATATGGTGCA	0.378																																																	0													85.0	84.0	84.0					1																	227213836		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4345C>A	1.37:g.227213836G>T	ENSP00000355731:p.Leu1449Ile			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L1449I	ENST00000366769.3	37	c.4345	CCDS1558.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.65|19.65	3.867527|3.867527	0.72065|0.72065	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	T;T;T;T;T;T;T|.	0.06449|.	3.3;3.3;3.3;3.3;3.3;3.3;3.3|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.134082|.	0.51477|.	D|.	0.000092|.	T|T	0.73745|0.73745	0.3626|0.3626	M|M	0.72894|0.72894	2.215|2.215	0.58432|0.58432	D|D	0.999997|0.999997	D;D;P;D;P;P;P;D|.	0.76494|.	0.999;0.999;0.857;0.985;0.926;0.828;0.828;0.999|.	D;D;P;D;P;B;B;D|.	0.87578|.	0.995;0.998;0.498;0.951;0.835;0.365;0.365;0.998|.	T|T	0.73260|0.73260	-0.4039|-0.4039	10|5	0.72032|.	D|.	0.01|.	.|.	14.9518|14.9518	0.71080|0.71080	0.0:0.1424:0.8576:0.0|0.0:0.1424:0.8576:0.0	.|.	1429;1421;764;346;1368;1449;1484;651|.	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.;.|.	I|Y	1449;1368;1449;1484;1421;764;1429;1462|651;777;346;673	ENSP00000355731:L1449I;ENSP00000355729:L1368I;ENSP00000335341:L1449I;ENSP00000355728:L1484I;ENSP00000355726:L1421I;ENSP00000443275:L1429I;ENSP00000355727:L1462I|.	ENSP00000335341:L1449I|.	L|S	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225280459|225280459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.667000|0.667000	0.39255|0.39255	5.359000|5.359000	0.66074|0.66074	2.599000|2.599000	0.87857|0.87857	0.650000|0.650000	0.86243|0.86243	CTC|TCT	CDC42BPA	-	pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron		0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	G	NM_014826		227213836	-1	no_errors	ENST00000334218	ensembl	human	known	70_37	missense	SNP	1.000	T
CDC42BPA	8476	genome.wustl.edu	37	1	227333339	227333339	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:227333339T>G	ENST00000366769.3	-	8	2285	c.994A>C	c.(994-996)Aat>Cat	p.N332H	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.N332H|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.N332H|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.N332H|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.N332H|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.N332H|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.N332H	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTATTCCATTTTGACCAAGT	0.403																																																	0													117.0	112.0	113.0					1																	227333339		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.994A>C	1.37:g.227333339T>G	ENSP00000355731:p.Asn332His			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.N332H	ENST00000366769.3	37	c.994	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298363	0.81025	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.68903	-0.34;-0.29;-0.34;-0.34;-0.36;-0.32;-0.35	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	L	0.50993	1.605	0.80722	D	1	D;D;D;B	0.71674	0.997;0.998;0.988;0.318	D;D;D;B	0.81914	0.995;0.989;0.99;0.382	T	0.79697	-0.1695	10	0.66056	D	0.02	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	332;332;332;332	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	H	332	ENSP00000355731:N332H;ENSP00000355729:N332H;ENSP00000335341:N332H;ENSP00000355728:N332H;ENSP00000355726:N332H;ENSP00000443275:N332H;ENSP00000355727:N332H	ENSP00000335341:N332H	N	-	1	0	CDC42BPA	225399962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	AAT	CDC42BPA	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.403	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	T	NM_014826		227333339	-1	no_errors	ENST00000334218	ensembl	human	known	70_37	missense	SNP	1.000	G
CDC45	8318	genome.wustl.edu	37	22	19486625	19486625	+	Splice_Site	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:19486625T>C	ENST00000407835.1	+	10	911	c.655T>C	c.(655-657)Tgg>Cgg	p.W219R	CDC45_ENST00000404724.3_Splice_Site_p.W173R|CDC45_ENST00000263201.1_Splice_Site_p.W219R|CDC45_ENST00000437685.2_Splice_Site_p.W251R			O75419	CDC45_HUMAN	cell division cycle 45	219					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|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)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TTCTTCCAGGTGGGCCATCGT	0.592																																																	0													140.0	103.0	116.0					22																	19486625		2203	4300	6503	SO:0001630	splice_region_variant	8318			AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.654-1T>C	22.37:g.19486625T>C			B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	pfam_CDC45	p.W251R	ENST00000407835.1	37	c.751	CCDS13762.1	22	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384758	0.82792	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.998;0.998;0.998	T	0.63350	-0.6657	10	0.87932	D	0	-13.9164	14.4462	0.67352	0.0:0.0:0.0:1.0	.	251;214;173;251;219	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	R	219;251;219;173	ENSP00000385240:W219R;ENSP00000405726:W251R;ENSP00000263201:W219R;ENSP00000384978:W173R	ENSP00000263201:W219R	W	+	1	0	CDC45	17866625	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.243000	0.78219	2.047000	0.60756	0.459000	0.35465	TGG	CDC45	-	pfam_CDC45		0.592	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CDC45	HGNC	protein_coding	OTTHUMT00000317903.1	T	NM_003504	Missense_Mutation	19486625	+1	no_errors	ENST00000437685	ensembl	human	known	70_37	missense	SNP	1.000	C
CDCA7L	55536	genome.wustl.edu	37	7	21945150	21945150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:21945150G>A	ENST00000406877.3	-	7	1300	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	CDCA7L_ENST00000373934.4_Nonsense_Mutation_p.R295*|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Nonsense_Mutation_p.R307*	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	341					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ATTTTATCTCGAACAGTTATG	0.393																																																	0													93.0	91.0	92.0					7																	21945150		2203	4300	6503	SO:0001587	stop_gained	55536				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.1021C>T	7.37:g.21945150G>A	ENSP00000383986:p.Arg341*		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Nonsense_Mutation	SNP	pfam_Znf-4CXXC_R1	p.R341*	ENST00000406877.3	37	c.1021	CCDS5374.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.645126	0.98899	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	.	.	.	5.85	3.87	0.44632	.	0.057228	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3434	13.2867	0.60247	0.0:0.0:0.6742:0.3258	.	.	.	.	X	307;341;295	.	ENSP00000348523:R307X	R	-	1	2	CDCA7L	21911675	0.999000	0.42202	1.000000	0.80357	0.965000	0.64279	2.725000	0.47294	2.767000	0.95098	0.563000	0.77884	CGA	CDCA7L	-	NULL		0.393	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4	G	NM_018719		21945150	-1	no_errors	ENST00000406877	ensembl	human	known	70_37	nonsense	SNP	0.970	A
CDCP1	64866	genome.wustl.edu	37	3	45134979	45134979	+	Missense_Mutation	SNP	C	C	T	rs370335828		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:45134979C>T	ENST00000296129.1	-	6	1551	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	473	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CAGGGCTTCTCGTGTGTATGC	0.612																																																	0								C	LYS/GLU	0,4406		0,0,2203	93.0	80.0	85.0		1417	5.6	0.3	3		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDCP1	NM_022842.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	473/837	45134979	1,13005	2203	4300	6503	SO:0001583	missense	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1417G>A	3.37:g.45134979C>T	ENSP00000296129:p.Glu473Lys		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	superfamily_CUB	p.E473K	ENST00000296129.1	37	c.1417	CCDS2727.1	3	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564108	0.45694	0.0	1.16E-4	ENSG00000163814	ENST00000296129	T	0.26810	1.71	5.57	5.57	0.84162	.	0.151262	0.64402	D	0.000015	T	0.32645	0.0836	M	0.67953	2.075	0.80722	D	1	D	0.59767	0.986	P	0.45099	0.469	T	0.07868	-1.0750	10	0.45353	T	0.12	.	14.2398	0.65950	0.0:0.8514:0.1486:0.0	.	473	Q9H5V8	CDCP1_HUMAN	K	473	ENSP00000296129:E473K	ENSP00000296129:E473K	E	-	1	0	CDCP1	45109983	0.971000	0.33674	0.334000	0.25495	0.108000	0.19459	3.436000	0.52856	2.626000	0.88956	0.462000	0.41574	GAG	CDCP1	-	NULL		0.612	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	HGNC	protein_coding	OTTHUMT00000256748.3	C	NM_022842		45134979	-1	no_errors	ENST00000296129	ensembl	human	known	70_37	missense	SNP	0.844	T
CDH10	1008	genome.wustl.edu	37	5	24487975	24487975	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:24487975C>A	ENST00000264463.4	-	12	2671	c.2164G>T	c.(2164-2166)Gat>Tat	p.D722Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	722					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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGGTCAAGATCATGCTCTTTT	0.443										HNSCC(23;0.051)																																							0													103.0	108.0	106.0					5																	24487975		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2164G>T	5.37:g.24487975C>A	ENSP00000264463:p.Asp722Tyr		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D722Y	ENST00000264463.4	37	c.2164	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958863	0.74016	.	.	ENSG00000040731	ENST00000264463	D	0.81821	-1.54	5.92	5.92	0.95590	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93726	0.7995	H	0.97131	3.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.95112	0.8239	10	0.87932	D	0	.	19.3088	0.94175	0.0:1.0:0.0:0.0	.	722	Q9Y6N8	CAD10_HUMAN	Y	722	ENSP00000264463:D722Y	ENSP00000264463:D722Y	D	-	1	0	CDH10	24523732	1.000000	0.71417	0.983000	0.44433	0.797000	0.45037	7.702000	0.84576	2.809000	0.96659	0.655000	0.94253	GAT	CDH10	-	pfam_Cadherin_cytoplasmic-dom		0.443	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	C	NM_006727		24487975	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	missense	SNP	1.000	A
CDH12	1010	genome.wustl.edu	37	5	21975495	21975495	+	Splice_Site	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:21975495C>T	ENST00000382254.1	-	6	1318		c.e6-1		CDH12_ENST00000504376.2_Splice_Site|CDH12_ENST00000522262.1_Splice_Site	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CGGAATGGAGCTTTAGGGAag	0.438										HNSCC(59;0.17)																																							0													46.0	48.0	47.0					5																	21975495		2044	3882	5926	SO:0001630	splice_region_variant	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.232-1G>A	5.37:g.21975495C>T			B2RBT1|B7Z2U6|Q86UD2	Splice_Site	SNP	-	e2-1	ENST00000382254.1	37	c.232-1	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437384	0.83885	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8619	0.92276	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH12	22011252	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.397000	0.79903	2.472000	0.83506	0.484000	0.47621	.	CDH12	-	-		0.438	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	C	NM_004061	Intron	21975495	-1	no_errors	ENST00000382254	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CDH10	1008	genome.wustl.edu	37	5	24491741	24491741	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:24491741G>A	ENST00000264463.4	-	11	2327	c.1820C>T	c.(1819-1821)gCc>gTc	p.A607V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	607					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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCTGAGGCCGGCAGGGAGGAG	0.522										HNSCC(23;0.051)																																							0													117.0	107.0	111.0					5																	24491741		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1820C>T	5.37:g.24491741G>A	ENSP00000264463:p.Ala607Val		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A607V	ENST00000264463.4	37	c.1820	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786369	0.49997	.	.	ENSG00000040731	ENST00000264463	T	0.55413	0.52	5.89	5.89	0.94794	.	0.055073	0.64402	D	0.000001	T	0.55816	0.1944	L	0.60012	1.86	0.47621	D	0.999471	B	0.24132	0.098	B	0.32805	0.153	T	0.48525	-0.9028	10	0.28530	T	0.3	.	19.2409	0.93883	0.0:0.0:1.0:0.0	.	607	Q9Y6N8	CAD10_HUMAN	V	607	ENSP00000264463:A607V	ENSP00000264463:A607V	A	-	2	0	CDH10	24527498	1.000000	0.71417	0.215000	0.23724	0.991000	0.79684	6.304000	0.72800	2.788000	0.95919	0.557000	0.71058	GCC	CDH10	-	NULL		0.522	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	G	NM_006727		24491741	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	missense	SNP	0.987	A
CDH19	28513	genome.wustl.edu	37	18	64218334	64218334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:64218334C>A	ENST00000540086.1	-	5	1018	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	CDH19_ENST00000262150.2_Nonsense_Mutation_p.E258*	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	368	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TACTTACTTTCTTTAAATATA	0.294																																																	0													42.0	45.0	44.0					18																	64218334		2201	4300	6501	SO:0001587	stop_gained	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.772G>T	18.37:g.64218334C>A	ENSP00000439593:p.Glu258*		O15098	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E258*	ENST00000540086.1	37	c.772	CCDS59325.1	18	.	.	.	.	.	.	.	.	.	.	C	39	7.433411	0.98282	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	.	.	.	5.83	1.7	0.24286	.	0.557358	0.19788	N	0.106053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	2.9567	0.05878	0.1086:0.4084:0.3135:0.1695	.	.	.	.	X	258;258;203	.	ENSP00000262150:E258X	E	-	1	0	CDH19	62369314	0.575000	0.26692	1.000000	0.80357	0.985000	0.73830	-0.017000	0.12590	0.815000	0.34398	0.585000	0.79938	GAA	CDH19	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.294	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000442285.1	C	NM_021153		64218334	-1	no_errors	ENST00000262150	ensembl	human	known	70_37	nonsense	SNP	0.989	A
CDH23	64072	genome.wustl.edu	37	10	73442211	73442211	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:73442211T>G	ENST00000224721.6	+	17	1888	c.1883T>G	c.(1882-1884)gTc>gGc	p.V628G	CDH23_ENST00000299366.7_Missense_Mutation_p.V668G	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGATCAGCGTCAGTCGCCCC	0.552																																																	0													58.0	60.0	60.0					10																	73442211		2014	4184	6198	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1883T>G	10.37:g.73442211T>G	ENSP00000224721:p.Val628Gly		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V626G	ENST00000224721.6	37	c.1877		10	.	.	.	.	.	.	.	.	.	.	T	22.0	4.225298	0.79576	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.31	5.31	0.75309	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000011	D	0.84329	0.5448	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.996;0.968	D	0.87677	0.2545	9	0.87932	D	0	.	15.2681	0.73678	0.0:0.0:0.0:1.0	.	623;626;623	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	G	628;623;623;626;626;140	.	ENSP00000224721:V628G	V	+	2	0	CDH23	73112217	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.665000	0.83852	2.019000	0.59389	0.533000	0.62120	GTC	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.552	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	T	NM_052836		73442211	+1	no_errors	ENST00000224721	ensembl	human	known	70_37	missense	SNP	1.000	G
CDH26	60437	genome.wustl.edu	37	20	58559720	58559720	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:58559720G>T	ENST00000244047.5	+	6	879	c.568G>T	c.(568-570)Gtc>Ttc	p.V190F	CDH26_ENST00000348616.4_Missense_Mutation_p.V190F			Q8IXH8	CAD26_HUMAN	cadherin 26	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GATGTTAGCAGTCGATTTGGA	0.353																																																	0													99.0	104.0	102.0					20																	58559720		2203	4300	6503	SO:0001583	missense	60437			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.568G>T	20.37:g.58559720G>T	ENSP00000244047:p.Val190Phe		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V190F	ENST00000244047.5	37	c.568		20	.	.	.	.	.	.	.	.	.	.	G	7.505	0.653432	0.14580	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.52754	0.65;0.65	4.43	2.41	0.29592	.	0.355236	0.25288	N	0.031743	T	0.32556	0.0833	L	0.28504	0.86	0.09310	N	1	B	0.31174	0.311	B	0.35899	0.213	T	0.24154	-1.0168	10	0.56958	D	0.05	.	3.2428	0.06787	0.0982:0.1721:0.5526:0.1771	.	190	Q8IXH8-4	.	F	190	ENSP00000244047:V190F;ENSP00000339390:V190F	ENSP00000244047:V190F	V	+	1	0	CDH26	57993115	0.638000	0.27225	0.012000	0.15200	0.878000	0.50629	0.437000	0.21543	0.294000	0.22547	0.655000	0.94253	GTC	CDH26	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.353	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		G	NM_177980		58559720	+1	no_errors	ENST00000244047	ensembl	human	known	70_37	missense	SNP	0.105	T
CDH8	1006	genome.wustl.edu	37	16	61747890	61747890	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:61747890T>G	ENST00000577390.1	-	10	2491				CDH8_ENST00000580044.1_Intron|CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2						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)		ACGTCAGCATTTCTGATGATT	0.393																																																	0													101.0	105.0	103.0					16																	61747890		2201	4298	6499	SO:0001627	intron_variant	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.1537-28A>C	16.37:g.61747890T>G			B3KWC1|Q14DC6|Q9ULB2	RNA	SNP	-	NULL	ENST00000577390.1	37	NULL	CCDS10802.1	16																																																																																			CDH8	-	-		0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	T	NM_001796		61747890	-1	no_errors	ENST00000583483	ensembl	human	putative	70_37	rna	SNP	0.818	G
CDK17	5128	genome.wustl.edu	37	12	96676323	96676323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:96676323G>A	ENST00000261211.3	-	15	2023	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	CDK17_ENST00000543119.2_Nonsense_Mutation_p.R474*|CDK17_ENST00000542666.1_Nonsense_Mutation_p.R421*	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	474					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CCCAGACTTCGAAAGTACACA	0.378																																																	0													131.0	123.0	126.0					12																	96676323		2203	4300	6503	SO:0001587	stop_gained	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.1420C>T	12.37:g.96676323G>A	ENSP00000261211:p.Arg474*		A8K1U6|B2RCQ2|Q8NEB8	Nonsense_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.R474*	ENST00000261211.3	37	c.1420	CCDS9061.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.696509	0.99241	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	.	.	.	6.16	6.16	0.99307	.	0.052438	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0611	15.4294	0.75081	0.0:0.0:0.8295:0.1705	.	.	.	.	X	474;474;421	.	ENSP00000261211:R474X	R	-	1	2	CDK17	95200454	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.863000	0.39459	2.937000	0.99478	0.650000	0.86243	CGA	CDK17	-	superfamily_Kinase-like_dom		0.378	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK17	HGNC	protein_coding	OTTHUMT00000408751.1	G	NM_002595		96676323	-1	no_errors	ENST00000261211	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CDK5RAP2	55755	genome.wustl.edu	37	9	123216113	123216113	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:123216113C>T	ENST00000349780.4	-	21	2593	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.G805E|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.G805E|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.G773E	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	805					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GAATAGTTGTCCCAGAAGCAG	0.458																																																	0													77.0	73.0	74.0					9																	123216113		2202	4299	6501	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2414G>A	9.37:g.123216113C>T	ENSP00000343818:p.Gly805Glu		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.G805E	ENST00000349780.4	37	c.2414	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.099695	0.00360	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.13901	4.24;4.0;4.1;4.0;2.55	5.66	0.918	0.19386	.	0.401777	0.23700	N	0.045428	T	0.03651	0.0104	N	0.02247	-0.625	0.19945	N	0.999942	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.08055	0.002;0.001;0.001;0.003	T	0.44952	-0.9294	10	0.02654	T	1	.	7.6007	0.28075	0.0:0.3587:0.0:0.6413	.	574;805;805;199	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	E	773;805;805;805;199	ENSP00000354065:G773E;ENSP00000352258:G805E;ENSP00000343818:G805E;ENSP00000353317:G805E;ENSP00000400395:G199E	ENSP00000343818:G805E	G	-	2	0	CDK5RAP2	122255934	0.779000	0.28652	0.340000	0.25575	0.010000	0.07245	0.515000	0.22801	0.124000	0.18369	-0.367000	0.07326	GGA	CDK5RAP2	-	NULL		0.458	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	C	NM_018249		123216113	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	missense	SNP	0.282	T
CDKL2	8999	genome.wustl.edu	37	4	76523295	76523295	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:76523295G>A	ENST00000429927.2	-	8	1689	c.986C>T	c.(985-987)tCc>tTc	p.S329F	CDKL2_ENST00000307465.4_Missense_Mutation_p.S329F	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	329					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)			TTCAACTAAGGAATCATCTTT	0.259																																																	0																																										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.986C>T	4.37:g.76523295G>A	ENSP00000412365:p.Ser329Phe		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.S329F	ENST00000429927.2	37	c.986	CCDS3570.1	4	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199150	0.38806	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.72167	-0.6;-0.63	4.18	3.3	0.37823	.	.	.	.	.	T	0.59932	0.2230	L	0.27053	0.805	0.24646	N	0.993541	B;B	0.32010	0.257;0.351	B;B	0.34991	0.1;0.193	T	0.55016	-0.8206	9	0.54805	T	0.06	-4.0502	11.768	0.51941	0.0:0.1795:0.8205:0.0	.	329;329	B4DH08;Q92772	.;CDKL2_HUMAN	F	329	ENSP00000412365:S329F;ENSP00000306340:S329F	ENSP00000306340:S329F	S	-	2	0	CDKL2	76742319	0.004000	0.15560	0.980000	0.43619	0.915000	0.54546	0.774000	0.26675	1.046000	0.40249	0.563000	0.77884	TCC	CDKL2	-	NULL		0.259	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	HGNC	protein_coding	OTTHUMT00000252409.2	G	NM_003948		76523295	-1	no_errors	ENST00000429927	ensembl	human	known	70_37	missense	SNP	0.998	A
CDON	50937	genome.wustl.edu	37	11	125850955	125850955	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:125850955G>T	ENST00000392693.3	-	17	3392	c.3265C>A	c.(3265-3267)Cat>Aat	p.H1089N	CDON_ENST00000263577.7_Missense_Mutation_p.H1089N|CDON_ENST00000531738.1_Missense_Mutation_p.H466N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1089					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTCACTAGATGATGAGGATGT	0.463																																																	0													129.0	118.0	122.0					11																	125850955		2201	4299	6500	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3265C>A	11.37:g.125850955G>T	ENSP00000376458:p.His1089Asn		O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H1089N	ENST00000392693.3	37	c.3265	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546048	0.86022	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.74632	-0.83;-0.23;-0.86	5.67	5.67	0.87782	.	0.000000	0.51477	D	0.000087	D	0.84529	0.5492	M	0.67953	2.075	0.50171	D	0.999857	D;D;P	0.64830	0.99;0.994;0.856	P;P;P	0.62014	0.791;0.897;0.51	D	0.84390	0.0554	10	0.52906	T	0.07	-24.0915	19.7606	0.96314	0.0:0.0:1.0:0.0	.	1089;1089;466	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	N	1089;466;1089	ENSP00000376458:H1089N;ENSP00000432901:H466N;ENSP00000263577:H1089N	ENSP00000263577:H1089N	H	-	1	0	CDON	125356165	1.000000	0.71417	0.976000	0.42696	0.895000	0.52256	7.896000	0.87350	2.661000	0.90470	0.579000	0.79373	CAT	CDON	-	NULL		0.463	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	G	NM_016952		125850955	-1	no_errors	ENST00000392693	ensembl	human	known	70_37	missense	SNP	1.000	T
CECR2	27443	genome.wustl.edu	37	22	18022113	18022113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:18022113C>T	ENST00000400585.2	+	16	2230	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*	CECR2_ENST00000400573.5_Nonsense_Mutation_p.R739*|CECR2_ENST00000262608.8_Nonsense_Mutation_p.R740*			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	781					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCATATGTATCGATCGTACAA	0.562																																																	0													30.0	32.0	31.0					22																	18022113		1888	4122	6010	SO:0001587	stop_gained	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1792C>T	22.37:g.18022113C>T	ENSP00000383428:p.Arg598*		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R739*	ENST00000400585.2	37	c.2215		22	.	.	.	.	.	.	.	.	.	.	C	38	6.909366	0.97928	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	.	.	.	5.43	4.37	0.52481	.	0.361046	0.20137	N	0.098480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9546	13.7921	0.63148	0.2069:0.7931:0.0:0.0	.	.	.	.	X	598;739;740	.	ENSP00000262608:R740X	R	+	1	2	CECR2	16402113	0.989000	0.36119	0.974000	0.42286	0.925000	0.55904	1.551000	0.36233	2.825000	0.97269	0.655000	0.94253	CGA	CECR2	-	NULL		0.562	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	C	NM_031413		18022113	+1	no_errors	ENST00000400573	ensembl	human	novel	70_37	nonsense	SNP	0.952	T
CENPC	1060	genome.wustl.edu	37	4	68384053	68384053	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:68384053T>G	ENST00000273853.6	-	7	901	c.651A>C	c.(649-651)aaA>aaC	p.K217N		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	217					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										CTATTTCTATTTTCTTTAACA	0.333																																																	0													31.0	28.0	29.0					4																	68384053		1766	3995	5761	SO:0001583	missense	1060			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.651A>C	4.37:g.68384053T>G	ENSP00000273853:p.Lys217Asn		Q8IW27|Q9P0M5	Missense_Mutation	SNP	pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin	p.K217N	ENST00000273853.6	37	c.651	CCDS47063.1	4	.	.	.	.	.	.	.	.	.	.	T	8.878	0.950965	0.18431	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.16	-0.495	0.12030	.	1.231060	0.05534	N	0.564532	T	0.40595	0.1123	L	0.54323	1.7	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12156	0.007;0.007	T	0.25433	-1.0132	9	0.33940	T	0.23	-0.1912	5.1767	0.15139	0.2897:0.0:0.3427:0.3676	.	217;217	Q8IW27;Q03188	.;CENPC_HUMAN	N	217	.	ENSP00000273853:K217N	K	-	3	2	CENPC1	68066648	0.106000	0.21978	0.000000	0.03702	0.009000	0.06853	0.323000	0.19593	-0.191000	0.10448	0.482000	0.46254	AAA	CENPC1	-	NULL		0.333	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC1	HGNC	protein_coding	OTTHUMT00000362001.2	T			68384053	-1	no_errors	ENST00000273853	ensembl	human	known	70_37	missense	SNP	0.000	G
CENPF	1063	genome.wustl.edu	37	1	214792495	214792495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:214792495G>T	ENST00000366955.3	+	5	673	c.505G>T	c.(505-507)Gaa>Taa	p.E169*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGATCTAAAAGAAAAATATAA	0.328																																					Colon(80;575 1284 11000 14801 43496)												0													33.0	40.0	38.0					1																	214792495		2197	4294	6491	SO:0001587	stop_gained	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.505G>T	1.37:g.214792495G>T	ENSP00000355922:p.Glu169*		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.E169*	ENST00000366955.3	37	c.505	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.579308	0.98371	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.51	5.51	0.81932	.	0.000000	0.39274	N	0.001404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	17.5542	0.87886	0.0:0.0:1.0:0.0	.	.	.	.	X	169	.	ENSP00000355922:E169X	E	+	1	0	CENPF	212859118	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.316000	0.79007	2.736000	0.93811	0.655000	0.94253	GAA	CENPF	-	pfam_Centromere_CenpF_N		0.328	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	G	NM_016343		214792495	+1	no_errors	ENST00000366955	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CENPF	1063	genome.wustl.edu	37	1	214830323	214830323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:214830323G>T	ENST00000366955.3	+	18	8701	c.8533G>T	c.(8533-8535)Gaa>Taa	p.E2845*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2941	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAGATCAAAGAACTGAAAGA	0.368																																					Colon(80;575 1284 11000 14801 43496)												0													78.0	77.0	78.0					1																	214830323		2203	4300	6503	SO:0001587	stop_gained	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8533G>T	1.37:g.214830323G>T	ENSP00000355922:p.Glu2845*		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.E2845*	ENST00000366955.3	37	c.8533	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	49	15.200418	0.99826	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.23	4.31	0.51392	.	0.247539	0.21024	N	0.081454	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	10.5692	0.45190	0.0721:0.1345:0.7934:0.0	.	.	.	.	X	2845	.	ENSP00000355922:E2845X	E	+	1	0	CENPF	212896946	1.000000	0.71417	0.974000	0.42286	0.147000	0.21601	4.895000	0.63214	1.328000	0.45358	0.561000	0.74099	GAA	CENPF	-	NULL		0.368	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	G	NM_016343		214830323	+1	no_errors	ENST00000366955	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CENPO	79172	genome.wustl.edu	37	2	25022592	25022592	+	Missense_Mutation	SNP	G	G	A	rs574000727		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:25022592G>A	ENST00000380834.2	+	3	520	c.95G>A	c.(94-96)cGt>cAt	p.R32H	CENPO_ENST00000473706.1_Missense_Mutation_p.R26H|CENPO_ENST00000260662.1_Missense_Mutation_p.R32H			Q9BU64	CENPO_HUMAN	centromere protein O	32					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R32H(1)		breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCAGATCCCGTAAACAGTCT	0.488																																																	1	Substitution - Missense(1)	breast(1)											88.0	97.0	94.0					2																	25022592		2203	4300	6503	SO:0001583	missense	79172			AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.95G>A	2.37:g.25022592G>A	ENSP00000370214:p.Arg32His		B2RDC0|D6W536|Q53T55|Q96JV3	Missense_Mutation	SNP	pfam_Centromere_CenpO	p.R32H	ENST00000380834.2	37	c.95	CCDS1714.1	2	.	.	.	.	.	.	.	.	.	.	g	8.934	0.964186	0.18583	.	.	ENSG00000138092	ENST00000380834;ENST00000473706;ENST00000260662	T;T;T	0.46063	0.88;0.88;0.88	4.54	-9.07	0.00724	.	1.589270	0.03451	N	0.210672	T	0.26955	0.0660	N	0.20685	0.6	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.27536	-1.0071	10	0.33940	T	0.23	-36.4417	13.1388	0.59423	0.7213:0.0873:0.1914:0.0	.	26;32	Q9BU64-2;Q9BU64	.;CENPO_HUMAN	H	32;26;32	ENSP00000370214:R32H;ENSP00000417787:R26H;ENSP00000260662:R32H	ENSP00000260662:R32H	R	+	2	0	CENPO	24876096	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.651000	0.00857	-3.258000	0.00202	-2.369000	0.00236	CGT	CENPO	-	NULL		0.488	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPO	HGNC	protein_coding	OTTHUMT00000246856.2	G	NM_024322		25022592	+1	no_errors	ENST00000260662	ensembl	human	known	70_37	missense	SNP	0.000	A
CEP192	55125	genome.wustl.edu	37	18	13068385	13068385	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:13068385C>A	ENST00000325971.8	+	22	4591	c.2998C>A	c.(2998-3000)Ctt>Att	p.L1000I	CEP192_ENST00000430049.2_Missense_Mutation_p.L1121I|CEP192_ENST00000506447.1_Missense_Mutation_p.L1596I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1000					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATTTGGGTTCTTTTCCATAG	0.299																																																	0													92.0	95.0	94.0					18																	13068385		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2998C>A	18.37:g.13068385C>A	ENSP00000317156:p.Leu1000Ile		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.L1596I	ENST00000325971.8	37	c.4786		18	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551457	0.27739	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.42131	0.98;0.98;0.98	5.36	3.21	0.36854	.	0.222711	0.38663	N	0.001604	T	0.24736	0.0600	N	0.16656	0.425	0.26399	N	0.976454	B;B;B	0.26081	0.141;0.136;0.037	B;B;B	0.22753	0.041;0.025;0.024	T	0.14008	-1.0488	10	0.33141	T	0.24	-17.8298	10.2359	0.43284	0.3228:0.5637:0.1135:0.0	.	1121;1596;198	C9JT09;E9PF99;Q9HCK3	.;.;.	I	1596;1000;1000;1121	ENSP00000427550:L1596I;ENSP00000317156:L1000I;ENSP00000389190:L1121I	ENSP00000317156:L1000I	L	+	1	0	CEP192	13058385	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.367000	0.44213	1.327000	0.45338	0.650000	0.86243	CTT	CEP192	-	NULL		0.299	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		C	NM_032142		13068385	+1	no_errors	ENST00000506447	ensembl	human	known	70_37	missense	SNP	1.000	A
CEP290	80184	genome.wustl.edu	37	12	88534775	88534775	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:88534775T>G	ENST00000552810.1	-	3	481	c.138A>C	c.(136-138)gaA>gaC	p.E46D	TMTC3_ENST00000266712.6_5'Flank|CEP290_ENST00000309041.7_Missense_Mutation_p.E46D	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTATCACATTTTCTTGCTTTT	0.299																																																	0													85.0	79.0	80.0					12																	88534775		1816	4056	5872	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.138A>C	12.37:g.88534775T>G	ENSP00000448012:p.Glu46Asp		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.E46D	ENST00000552810.1	37	c.138	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	T	20.5	3.997917	0.74818	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000550962	T;T;D	0.92099	-0.2;-0.2;-2.97	5.86	4.69	0.59074	.	0.057384	0.64402	N	0.000002	D	0.92463	0.7607	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89850	0.4009	10	0.25751	T	0.34	.	11.4997	0.50430	0.1345:0.0:0.0:0.8655	.	46	O15078	CE290_HUMAN	D	46	ENSP00000448012:E46D;ENSP00000308021:E46D;ENSP00000447623:E46D	ENSP00000308021:E46D	E	-	3	2	CEP290	87058906	1.000000	0.71417	0.996000	0.52242	0.904000	0.53231	2.325000	0.43840	1.006000	0.39211	0.482000	0.46254	GAA	CEP290	-	NULL		0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	T	NM_025114		88534775	-1	no_errors	ENST00000309041	ensembl	human	known	70_37	missense	SNP	1.000	G
CEP76	79959	genome.wustl.edu	37	18	12678430	12678430	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:12678430T>G	ENST00000262127.2	-	10	1526	c.1301A>C	c.(1300-1302)aAa>aCa	p.K434T	PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.K359T	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	434					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATTGGTAGGTTTATGGATGTA	0.348																																																	0													84.0	81.0	82.0					18																	12678430		2203	4300	6503	SO:0001583	missense	79959			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1301A>C	18.37:g.12678430T>G	ENSP00000262127:p.Lys434Thr		B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.K434T	ENST00000262127.2	37	c.1301	CCDS11861.1	18	.	.	.	.	.	.	.	.	.	.	T	4.809	0.150501	0.09185	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.33438	1.41;1.41	5.46	5.46	0.80206	.	0.148678	0.64402	D	0.000019	T	0.16642	0.0400	N	0.14661	0.345	0.38988	D	0.959088	B;B	0.15719	0.014;0.004	B;B	0.15870	0.014;0.006	T	0.14200	-1.0481	10	0.12103	T	0.63	-19.7182	10.2688	0.43470	0.0:0.0836:0.0:0.9164	.	359;434	Q8TAP6-2;Q8TAP6	.;CEP76_HUMAN	T	434;359	ENSP00000262127:K434T;ENSP00000403074:K359T	ENSP00000262127:K434T	K	-	2	0	CEP76	12668430	0.999000	0.42202	0.852000	0.33557	0.277000	0.26821	1.960000	0.40422	2.068000	0.61886	0.459000	0.35465	AAA	CEP76	-	NULL		0.348	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP76	HGNC	protein_coding	OTTHUMT00000254611.1	T	NM_024899		12678430	-1	no_errors	ENST00000262127	ensembl	human	known	70_37	missense	SNP	0.977	G
CEP97	79598	genome.wustl.edu	37	3	101476538	101476538	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:101476538C>T	ENST00000341893.3	+	9	1840	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	CEP97_ENST00000327230.4_Missense_Mutation_p.A363V|CEP97_ENST00000494050.1_Intron			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	363	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CAGTTATTTGCGGTTAAGAAT	0.378																																																	0													77.0	73.0	74.0					3																	101476538		2203	4300	6503	SO:0001583	missense	79598			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1088C>T	3.37:g.101476538C>T	ENSP00000342510:p.Ala363Val		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.A363V	ENST00000341893.3	37	c.1088	CCDS2944.1	3	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780764	0.70222	.	.	ENSG00000182504	ENST00000341893;ENST00000327230	T;T	0.61859	0.07;0.24	5.04	4.16	0.48862	.	0.143273	0.46758	D	0.000267	T	0.57257	0.2041	L	0.58101	1.795	0.39449	D	0.96737	D;P	0.54397	0.966;0.944	B;B	0.44163	0.443;0.174	T	0.63734	-0.6570	10	0.49607	T	0.09	-4.8213	15.4405	0.75178	0.0:0.8603:0.1397:0.0	.	363;363	Q8IW35-2;Q8IW35	.;CEP97_HUMAN	V	363	ENSP00000342510:A363V;ENSP00000325881:A363V	ENSP00000325881:A363V	A	+	2	0	CEP97	102959228	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	2.738000	0.47401	1.096000	0.41439	0.313000	0.20887	GCG	CEP97	-	NULL		0.378	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	C	NM_024548		101476538	+1	no_errors	ENST00000327230	ensembl	human	known	70_37	missense	SNP	1.000	T
CES5AP1	649264	genome.wustl.edu	37	22	23708516	23708516	+	IGR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:23708516A>C								AP000343.2 (37836 upstream) : CES5AP1 (3765 downstream)																							TGATGGAAGGAATTGCTTTAA	0.453																																																	0																																										SO:0001628	intergenic_variant	649264																															22.37:g.23708516A>C				RNA	SNP	-	NULL		37	NULL		22																																																																																			CES5AP1	-	-	0	0.453					CES5AP1	HGNC			A			23708516	-1	no_errors	ENST00000422151	ensembl	human	known	70_37	rna	SNP	0.841	C
CES5AP1	649264	genome.wustl.edu	37	22	23708532	23708532	+	IGR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:23708532T>G								AP000343.2 (37852 upstream) : CES5AP1 (3749 downstream)																							TTTAAATGCTTTCTGAGACAA	0.438																																																	0																																										SO:0001628	intergenic_variant	649264																															22.37:g.23708532T>G				RNA	SNP	-	NULL		37	NULL		22																																																																																			CES5AP1	-	-	0	0.438					CES5AP1	HGNC			T			23708532	-1	no_errors	ENST00000422151	ensembl	human	known	70_37	rna	SNP	0.004	G
CFB	629	genome.wustl.edu	37	6	31918952	31918952	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:31918952A>C	ENST00000425368.2	+	15	2400	c.1887A>C	c.(1885-1887)aaA>aaC	p.K629N	CFB_ENST00000456570.1_Missense_Mutation_p.K1131N|CFB_ENST00000477310.1_Missense_Mutation_p.K980N|CFB_ENST00000556679.1_Missense_Mutation_p.K1131N	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	629	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGGATATCAAAGCTCTGTTTG	0.512																																																	0													103.0	105.0	104.0					6																	31918952		1511	2709	4220	SO:0001583	missense	629			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1887A>C	6.37:g.31918952A>C	ENSP00000416561:p.Lys629Asn		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K1131N	ENST00000425368.2	37	c.3393	CCDS4729.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.56|19.56	3.850146|3.850146	0.71719|0.71719	.|.	.|.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000243649	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310|ENST00000483004	D;D;D;D|D	0.88431|0.88896	-2.38;-2.38;-2.38;-2.38|-2.44	5.41|5.41	4.22|4.22	0.49857|0.49857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.401514|0.401514	0.21200|0.21200	N|N	0.078496|0.078496	T|T	0.80259|0.80259	0.4590|0.4590	L|L	0.39326|0.39326	1.205|1.205	0.45648|0.45648	D|D	0.998576|0.998576	D;B|.	0.59357|.	0.985;0.113|.	P;B|.	0.61592|.	0.891;0.149|.	T|T	0.79864|0.79864	-0.1623|-0.1623	10|8	0.44086|0.59425	T|D	0.13|0.04	-8.2175|-8.2175	5.1575|5.1575	0.15042|0.15042	0.7556:0.0:0.0864:0.1579|0.7556:0.0:0.0864:0.1579	.|.	1131;629|.	B4E1Z4;P00751|.	.;CFAB_HUMAN|.	N|T	1131;629;1131;980|170	ENSP00000451848:K1131N;ENSP00000416561:K629N;ENSP00000410815:K1131N;ENSP00000418996:K980N|ENSP00000419887:K170T	ENSP00000416561:K629N|ENSP00000419887:K170T	K|K	+|+	3|2	2|0	CFB;XXbac-BPG116M5.17|CFB	32026931|32026931	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.968000|0.968000	0.65278|0.65278	1.001000|1.001000	0.29783|0.29783	0.856000|0.856000	0.35383|0.35383	0.482000|0.482000	0.46254|0.46254	AAA|AAG	CFB	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.512	CFB-001	KNOWN	basic|CCDS	protein_coding	CFB	HGNC	protein_coding	OTTHUMT00000076395.3	A	NM_001710		31918952	+1	no_errors	ENST00000556679	ensembl	human	known	70_37	missense	SNP	1.000	C
CFHR2	3080	genome.wustl.edu	37	1	196876118	196876118	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:196876118T>G	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.D188E|CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						ACACCACAGATTCCATAGTGT	0.363																																																	0																																										SO:0001627	intron_variant	10877			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-42467T>G	1.37:g.196876118T>G			Q14310|Q5T9T1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D188E	ENST00000367421.3	37	c.564		1	.	.	.	.	.	.	.	.	.	.	.	10.04	1.241579	0.22711	.	.	ENSG00000134365	ENST00000367416	T	0.63913	-0.07	2.96	-3.14	0.05250	.	.	.	.	.	T	0.29158	0.0725	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32161	-0.9917	9	0.02654	T	1	.	7.7336	0.28802	0.0:0.5572:0.0:0.4428	.	188;189	C9J7J7;Q5DVJ7	.;.	E	188	ENSP00000356386:D188E	ENSP00000356386:D188E	D	+	3	2	CFHR4	195142741	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-1.758000	0.01810	-0.801000	0.04427	0.352000	0.21897	GAT	CFHR4	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.363	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	CFHR4	HGNC	protein_coding		T	NM_005666		196876118	+1	no_errors	ENST00000367416	ensembl	human	known	70_37	missense	SNP	0.000	G
CFTR	1080	genome.wustl.edu	37	7	117251805	117251805	+	Nonsense_Mutation	SNP	G	G	T	rs397508538		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:117251805G>T	ENST00000003084.6	+	20	3442	c.3310G>T	c.(3310-3312)Gaa>Taa	p.E1104*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.E1043*|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1104	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AATGAGAATAGAAATGATTTT	0.358									Cystic Fibrosis																																								0			GRCh37	CM950255	CFTR	M							116.0	101.0	106.0					7																	117251805		2203	4300	6503	SO:0001587	stop_gained	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3310G>T	7.37:g.117251805G>T	ENSP00000003084:p.Glu1104*		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.E1104*	ENST00000003084.6	37	c.3310	CCDS5773.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.988342|9.988342	0.99312|0.99312	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809|ENST00000468795	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.090388|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|.	D|.	0|.	-17.8739|-17.8739	19.8015|19.8015	0.96509|0.96509	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|Y	1104;1043;1074|45	.|.	ENSP00000003084:E1104X|.	E|X	+|+	1|3	0|2	CFTR|CFTR	117039041|117039041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.759000|9.759000	0.98931|0.98931	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	GAA|TAG	CFTR	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel		0.358	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	G	NM_000492		117251805	+1	no_errors	ENST00000003084	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CHAF1A	10036	genome.wustl.edu	37	19	4405955	4405955	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:4405955A>G	ENST00000301280.5	+	2	200	c.99A>G	c.(97-99)atA>atG	p.I33M		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	33	Binds to CBX1 chromo shadow domain.|Binds to PCNA.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGTTAATACAAGGTAATT	0.378								Chromatin Structure																																									0													128.0	130.0	130.0					19																	4405955		2203	4300	6503	SO:0001583	missense	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.99A>G	19.37:g.4405955A>G	ENSP00000301280:p.Ile33Met		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	pfam_CAF1A,pfam_CAF-1_p150	p.I33M	ENST00000301280.5	37	c.99	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429310	0.43122	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.56941	0.43	5.22	5.22	0.72569	.	.	.	.	.	T	0.54029	0.1833	L	0.57536	1.79	0.31113	N	0.709738	P	0.48911	0.917	P	0.49226	0.603	T	0.64228	-0.6457	9	0.87932	D	0	-15.2444	5.8447	0.18659	0.7442:0.1695:0.0863:0.0	.	33	Q13111	CAF1A_HUMAN	M	33	ENSP00000301280:I33M	ENSP00000301280:I33M	I	+	3	3	CHAF1A	4356955	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	0.328000	0.19681	2.092000	0.63282	0.459000	0.35465	ATA	CHAF1A	-	NULL		0.378	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	A	NM_005483		4405955	+1	no_errors	ENST00000301280	ensembl	human	known	70_37	missense	SNP	1.000	G
CHD1L	9557	genome.wustl.edu	37	1	146756159	146756159	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:146756159G>A	ENST00000369258.4	+	16	1861	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.R333Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.R520Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.R410Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	614					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CGATCACTCCGAAATAAAGGC	0.358																																																	0													79.0	81.0	80.0					1																	146756159		2203	4300	6503	SO:0001583	missense	9557			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1841G>A	1.37:g.146756159G>A	ENSP00000358262:p.Arg614Gln		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R614Q	ENST00000369258.4	37	c.1841	CCDS927.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893188	0.91889	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	D;T;D;D	0.89617	-2.54;-1.4;-2.43;-1.52	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.92218	0.7532	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.75020	0.982;0.985;0.899	D	0.90273	0.4309	10	0.35671	T	0.21	.	16.144	0.81551	0.0:0.0:1.0:0.0	.	520;410;614	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	Q	520;410;614;333	ENSP00000389031:R520Q;ENSP00000358263:R410Q;ENSP00000358262:R614Q;ENSP00000355100:R333Q	ENSP00000355100:R333Q	R	+	2	0	CHD1L	145222783	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.065000	0.89485	2.884000	0.98904	0.655000	0.94253	CGA	CHD1L	-	NULL		0.358	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1L	HGNC	protein_coding	OTTHUMT00000040377.1	G	NM_004284		146756159	+1	no_errors	ENST00000369258	ensembl	human	known	70_37	missense	SNP	1.000	A
CHD3	1107	genome.wustl.edu	37	17	7807175	7807175	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:7807175C>A	ENST00000330494.7	+	24	3910	c.3760C>A	c.(3760-3762)Cat>Aat	p.H1254N	CHD3_ENST00000380358.4_Missense_Mutation_p.H1313N|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.H1254N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1254					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGTGTGATTCATTATGACAA	0.493																																																	0													101.0	85.0	90.0					17																	7807175		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3760C>A	17.37:g.7807175C>A	ENSP00000332628:p.His1254Asn		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.H1254N	ENST00000330494.7	37	c.3760	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130705	0.77549	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.96365	-3.99;-3.99;-3.99	4.98	4.98	0.66077	.	0.000000	0.48767	D	0.000175	D	0.97648	0.9229	M	0.64997	1.995	0.80722	D	1	D;D;D	0.63880	0.989;0.981;0.993	D;D;D	0.72982	0.979;0.954;0.968	D	0.98150	1.0441	10	0.72032	D	0.01	-22.9313	18.8043	0.92030	0.0:1.0:0.0:0.0	.	1254;1254;1313	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	N	1313;1254;1254	ENSP00000369716:H1313N;ENSP00000350907:H1254N;ENSP00000332628:H1254N	ENSP00000332628:H1254N	H	+	1	0	CHD3	7747900	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.275000	0.78548	2.743000	0.94032	0.561000	0.74099	CAT	CHD3	-	NULL		0.493	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	C	NM_001005273		7807175	+1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	A
CHI3L1	1116	genome.wustl.edu	37	1	203154457	203154457	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:203154457C>T	ENST00000255409.3	-	3	237	c.112G>A	c.(112-114)Gat>Aat	p.D38N		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	38					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CAGCTCCCATCGCCTTCCCGG	0.562																																																	0													120.0	108.0	112.0					1																	203154457		2203	4300	6503	SO:0001583	missense	1116			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.112G>A	1.37:g.203154457C>T	ENSP00000255409:p.Asp38Asn		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.D38N	ENST00000255409.3	37	c.112	CCDS1435.1	1	.	.	.	.	.	.	.	.	.	.	C	8.596	0.885814	0.17540	.	.	ENSG00000133048	ENST00000255409	T	0.28454	1.61	5.35	2.3	0.28687	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.956896	0.08643	N	0.915256	T	0.14700	0.0355	N	0.11427	0.14	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.33497	-0.9866	10	0.16420	T	0.52	-2.5596	5.558	0.17127	0.0:0.5158:0.3122:0.172	.	38	P36222	CH3L1_HUMAN	N	38	ENSP00000255409:D38N	ENSP00000255409:D38N	D	-	1	0	CHI3L1	201421080	0.000000	0.05858	0.009000	0.14445	0.991000	0.79684	-0.430000	0.06973	0.668000	0.31126	0.655000	0.94253	GAT	CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.562	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	C	NM_001276		203154457	-1	no_errors	ENST00000255409	ensembl	human	known	70_37	missense	SNP	0.000	T
CHID1	66005	genome.wustl.edu	37	11	899391	899391	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:899391A>G	ENST00000449825.1	-	7	913	c.557T>C	c.(556-558)tTc>tCc	p.F186S	CHID1_ENST00000454838.2_Missense_Mutation_p.F211S|CHID1_ENST00000528581.1_Missense_Mutation_p.F211S|CHID1_ENST00000336845.5_Missense_Mutation_p.F211S|CHID1_ENST00000323541.7_Missense_Mutation_p.F216S|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000436108.2_Missense_Mutation_p.F186S|CHID1_ENST00000429789.2_Missense_Mutation_p.F186S|CHID1_ENST00000323578.8_Missense_Mutation_p.F186S	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	186					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		GAAGCCATCGAAATGCTGGTT	0.622																																					Pancreas(117;992 2327 5172 41921)												0													67.0	49.0	55.0					11																	899391		2200	4296	6496	SO:0001583	missense	66005			AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.557T>C	11.37:g.899391A>G	ENSP00000391255:p.Phe186Ser		B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.F216S	ENST00000449825.1	37	c.647	CCDS7722.1	11	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350163	0.82132	.	.	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108	T;T;T;T;T;T;T;T	0.42513	2.73;2.73;2.73;2.73;0.97;2.73;2.73;2.73	4.46	4.46	0.54185	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.052152	0.85682	D	0.000000	T	0.67571	0.2907	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;1.0	T	0.74275	-0.3718	10	0.87932	D	0	-14.4612	12.7273	0.57178	1.0:0.0:0.0:0.0	.	247;216;186;211;186	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.;.;.;.;CHID1_HUMAN	S	216;186;211;186;186;211;211;186	ENSP00000324821:F216S;ENSP00000391255:F186S;ENSP00000398722:F211S;ENSP00000325055:F186S;ENSP00000416034:F186S;ENSP00000435503:F211S;ENSP00000338838:F211S;ENSP00000388156:F186S	ENSP00000324821:F216S	F	-	2	0	CHID1	889391	0.994000	0.37717	0.995000	0.50966	0.937000	0.57800	4.017000	0.57167	1.665000	0.50811	0.379000	0.24179	TTC	CHID1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.622	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CHID1	HGNC	protein_coding	OTTHUMT00000257112.1	A	NM_023947		899391	-1	no_errors	ENST00000323541	ensembl	human	known	70_37	missense	SNP	1.000	G
CHM	1121	genome.wustl.edu	37	X	85218695	85218695	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:85218695C>A	ENST00000357749.2	-	5	706	c.677G>T	c.(676-678)aGa>aTa	p.R226I	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.R78I	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	226					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AATATTAAATCTCCTGCCTTC	0.343																																																	0													55.0	46.0	49.0					X																	85218695		2203	4300	6503	SO:0001583	missense	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.677G>T	X.37:g.85218695C>A	ENSP00000350386:p.Arg226Ile		A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.R226I	ENST00000357749.2	37	c.677	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270275	0.59540	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.86432	-2.12;-2.12	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.94631	0.8269	M	0.92169	3.28	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	D	0.95814	0.8844	10	0.59425	D	0.04	-12.6406	16.7714	0.85538	0.0:1.0:0.0:0.0	.	226	P24386	RAE1_HUMAN	I	226;78	ENSP00000350386:R226I;ENSP00000441728:R78I	ENSP00000350386:R226I	R	-	2	0	CHM	85105351	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	2.330000	0.43885	1.962000	0.57031	0.284000	0.19432	AGA	CHM	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor		0.343	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	C	NM_000390		85218695	-1	no_errors	ENST00000357749	ensembl	human	known	70_37	missense	SNP	1.000	A
CHN1	1123	genome.wustl.edu	37	2	175689189	175689189	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:175689189G>T	ENST00000409900.3	-	8	998	c.685C>A	c.(685-687)Ctc>Atc	p.L229I	CHN1_ENST00000295497.7_Missense_Mutation_p.L104I|CHN1_ENST00000409156.3_Missense_Mutation_p.L203I|CHN1_ENST00000409597.1_Missense_Mutation_p.L45I|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	229					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TGAGCAATGAGACCCCACATA	0.453			T	TAF15	extraskeletal myxoid chondrosarcoma																																			Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0													82.0	74.0	77.0					2																	175689189		1957	4187	6144	SO:0001583	missense	1123				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.685C>A	2.37:g.175689189G>T	ENSP00000386741:p.Leu229Ile		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.L229I	ENST00000409900.3	37	c.685	CCDS46455.1	2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989600	0.93106	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238;ENST00000444573	D;D;D;T;D;T;D;D;D	0.85339	-1.97;-1.97;-1.97;1.46;-1.97;1.46;-1.97;-1.97;-1.97	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	L	0.38733	1.17	0.80722	D	1	P;D;P	0.71674	0.946;0.998;0.934	P;D;P	0.73380	0.833;0.98;0.743	D	0.87330	0.2324	10	0.35671	T	0.21	.	19.1488	0.93479	0.0:0.0:1.0:0.0	.	203;229;104	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	I	229;104;45;203;4;4;47;55;104	ENSP00000386741:L229I;ENSP00000295497:L104I;ENSP00000386469:L45I;ENSP00000386470:L203I;ENSP00000386322:L4I;ENSP00000411911:L4I;ENSP00000410496:L47I;ENSP00000409798:L55I;ENSP00000392603:L104I	ENSP00000295497:L104I	L	-	1	0	CHN1	175397435	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	9.349000	0.97066	2.688000	0.91661	0.655000	0.94253	CTC	CHN1	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_N-chimaerin,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.453	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	HGNC	protein_coding	OTTHUMT00000334453.1	G	NM_001822		175689189	-1	no_errors	ENST00000409900	ensembl	human	known	70_37	missense	SNP	1.000	T
CHORDC1	26973	genome.wustl.edu	37	11	89944496	89944496	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:89944496T>G	ENST00000320585.6	-	5	739				CHORDC1_ENST00000529987.1_5'Flank|CHORDC1_ENST00000457199.2_Intron|CHORDC1_ENST00000529726.1_5'Flank	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1						chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GCTGGAGAATTTTGAAACCTT	0.313																																																	0													76.0	82.0	80.0					11																	89944496		2200	4289	6489	SO:0001627	intron_variant	26973			AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.330-10A>C	11.37:g.89944496T>G			B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	pfam_CHORD	p.N113H	ENST00000320585.6	37	c.337	CCDS8289.1	11																																																																																			CHORDC1	-	NULL		0.313	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHORDC1	HGNC	protein_coding	OTTHUMT00000394111.1	T	NM_012124		89944496	-1	no_errors	ENST00000533772	ensembl	human	known	70_37	missense	SNP	0.998	G
CHRM2	1129	genome.wustl.edu	37	7	136700256	136700256	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:136700256G>A	ENST00000445907.2	+	3	1172	c.644G>A	c.(643-645)aGc>aAc	p.S215N	CHRM2_ENST00000401861.1_Missense_Mutation_p.S215N|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S215N|CHRM2_ENST00000320658.5_Missense_Mutation_p.S215N|CHRM2_ENST00000397608.3_Missense_Mutation_p.S215N|CHRM2_ENST00000402486.3_Missense_Mutation_p.S215N|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	215					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCAGCAAGAGCAGGATAAAG	0.473																																																	0													52.0	47.0	49.0					7																	136700256		2203	4300	6503	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.644G>A	7.37:g.136700256G>A	ENSP00000399745:p.Ser215Asn		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.S215N	ENST00000445907.2	37	c.644	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730032	0.48939	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.102311	0.64402	D	0.000004	T	0.41696	0.1170	L	0.58925	1.835	0.80722	D	1	B	0.28400	0.21	B	0.33960	0.173	T	0.18147	-1.0346	10	0.27785	T	0.31	-40.1147	19.4315	0.94772	0.0:0.0:1.0:0.0	.	215	P08172	ACM2_HUMAN	N	215	ENSP00000399745:S215N;ENSP00000415386:S215N;ENSP00000319984:S215N;ENSP00000380733:S215N;ENSP00000384937:S215N;ENSP00000384401:S215N	ENSP00000319984:S215N	S	+	2	0	CHRM2	136350796	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.003000	0.88520	2.600000	0.87896	0.655000	0.94253	AGC	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	G			136700256	+1	no_errors	ENST00000320658	ensembl	human	known	70_37	missense	SNP	1.000	A
CIB4	130106	genome.wustl.edu	37	2	26863416	26863416	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:26863416C>A	ENST00000288861.4	-	2	127	c.74G>T	c.(73-75)aGa>aTa	p.R25I		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	25							calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTTCATTTCTGGTCAGGAA	0.567																																																	0													151.0	152.0	152.0					2																	26863416		2203	4300	6503	SO:0001583	missense	130106				CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"""EF-hand domain containing"""	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.74G>T	2.37:g.26863416C>A	ENSP00000288861:p.Arg25Ile		B2RU18	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R25I	ENST00000288861.4	37	c.74	CCDS33160.1	2	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979514	0.53827	.	.	ENSG00000157884	ENST00000288861	T	0.67698	-0.28	5.59	4.7	0.59300	EF-hand-like domain (1);	0.000000	0.64402	D	0.000005	T	0.68348	0.2991	M	0.79475	2.455	0.80722	D	1	B	0.29936	0.262	B	0.35039	0.194	T	0.72054	-0.4406	10	0.87932	D	0	.	10.9065	0.47084	0.0:0.9107:0.0:0.0893	.	25	A0PJX0	CIB4_HUMAN	I	25	ENSP00000288861:R25I	ENSP00000288861:R25I	R	-	2	0	CIB4	26716920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.137000	0.42130	2.626000	0.88956	0.650000	0.86243	AGA	CIB4	-	NULL		0.567	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB4	HGNC	protein_coding	OTTHUMT00000324709.1	C			26863416	-1	no_errors	ENST00000288861	ensembl	human	known	70_37	missense	SNP	1.000	A
CILP	8483	genome.wustl.edu	37	15	65495702	65495702	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:65495702A>C	ENST00000261883.4	-	7	1192	c.1026T>G	c.(1024-1026)ttT>ttG	p.F342L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	342	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ATACGCACCAAAAATACTTGT	0.493																																																	0													124.0	110.0	115.0					15																	65495702		2201	4299	6500	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1026T>G	15.37:g.65495702A>C	ENSP00000261883:p.Phe342Leu		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.F342L	ENST00000261883.4	37	c.1026	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	A	3.935	-0.015441	0.07681	.	.	ENSG00000138615	ENST00000261883	T	0.11930	2.73	5.48	2.23	0.28157	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.368010	0.32120	N	0.006541	T	0.05914	0.0154	N	0.12663	0.25	0.36785	D	0.884534	B	0.02656	0.0	B	0.04013	0.001	T	0.37641	-0.9697	10	0.10636	T	0.68	-29.6106	6.9767	0.24679	0.1739:0.137:0.6891:0.0	.	342	O75339	CILP1_HUMAN	L	342	ENSP00000261883:F342L	ENSP00000261883:F342L	F	-	3	2	CILP	63282755	1.000000	0.71417	0.993000	0.49108	0.072000	0.16883	1.836000	0.39191	0.152000	0.19188	-0.408000	0.06270	TTT	CILP	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.493	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	A	NM_003613		65495702	-1	no_errors	ENST00000261883	ensembl	human	known	70_37	missense	SNP	1.000	C
CIT	11113	genome.wustl.edu	37	12	120142196	120142196	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:120142196T>G	ENST00000261833.7	-	40	5202	c.5150A>C	c.(5149-5151)gAa>gCa	p.E1717A	CIT_ENST00000392521.2_Missense_Mutation_p.E1759A|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1717	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTGAGGTTTTCGTTGTAGCG	0.507																																																	0													205.0	168.0	181.0					12																	120142196		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5150A>C	12.37:g.120142196T>G	ENSP00000261833:p.Glu1717Ala		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E1717A	ENST00000261833.7	37	c.5150	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.70|16.70	3.195882|3.195882	0.58126|0.58126	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.05382|.	3.45;3.45|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Citron-like (3);|.	0.191280|.	0.43919|.	D|.	0.000503|.	T|T	0.50837|0.50837	0.1639|0.1639	N|N	0.19112|0.19112	0.55|0.55	0.44807|0.44807	D|D	0.997818|0.997818	B;B;B|.	0.33345|.	0.104;0.409;0.021|.	B;B;B|.	0.37550|.	0.06;0.253;0.013|.	T|T	0.48091|0.48091	-0.9065|-0.9065	10|5	0.39692|.	T|.	0.17|.	.|.	15.4378|15.4378	0.75160|0.75160	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1759;1717;1235|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	A|Q	1759;1717|1330	ENSP00000376306:E1759A;ENSP00000261833:E1717A|.	ENSP00000261833:E1717A|.	E|K	-|-	2|1	0|0	CIT|CIT	118626579|118626579	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.986000|0.986000	0.74619|0.74619	6.220000|6.220000	0.72237|0.72237	2.054000|2.054000	0.61138|0.61138	0.482000|0.482000	0.46254|0.46254	GAA|AAA	CIT	-	pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase		0.507	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	T	NM_007174		120142196	-1	no_errors	ENST00000261833	ensembl	human	known	70_37	missense	SNP	1.000	G
CLCN6	1185	genome.wustl.edu	37	1	11867239	11867239	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:11867239G>T	ENST00000346436.6	+	2	191	c.139G>T	c.(139-141)Gac>Tac	p.D47Y	CLCN6_ENST00000376497.3_Missense_Mutation_p.D47Y|CLCN6_ENST00000376492.3_3'UTR|MTHFR_ENST00000376590.3_5'Flank|CLCN6_ENST00000376487.3_Missense_Mutation_p.D47Y|CLCN6_ENST00000312413.6_Missense_Mutation_p.D47Y|MTHFR_ENST00000376585.1_5'Flank|CLCN6_ENST00000376496.3_Missense_Mutation_p.D47Y	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	47					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAAGGAAAGACTATGAGGT	0.478																																																	0													102.0	92.0	95.0					1																	11867239		2203	4300	6503	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.139G>T	1.37:g.11867239G>T	ENSP00000234488:p.Asp47Tyr		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.D47Y	ENST00000346436.6	37	c.139	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654412	0.88056	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376497;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;T;D;D	0.92805	-3.11;-2.9;-1.28;-3.01;-2.9	4.88	4.88	0.63580	.	0.089033	0.85682	D	0.000000	D	0.93851	0.8033	L	0.51422	1.61	0.80722	D	1	P;D;D;D;P;P	0.64830	0.498;0.983;0.994;0.994;0.684;0.614	B;P;P;P;P;B	0.61533	0.347;0.822;0.89;0.89;0.481;0.36	D	0.94481	0.7693	10	0.87932	D	0	-34.243	15.5379	0.76018	0.0:0.0:1.0:0.0	.	47;47;47;47;47;47	F8W9R3;P51797-3;P51797-4;P51797-2;P51797-5;P51797	.;.;.;.;.;CLCN6_HUMAN	Y	47	ENSP00000308367:D47Y;ENSP00000234488:D47Y;ENSP00000365680:D47Y;ENSP00000365670:D47Y;ENSP00000365679:D47Y	ENSP00000308367:D47Y	D	+	1	0	CLCN6	11789826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.858000	0.86971	2.412000	0.81896	0.563000	0.77884	GAC	CLCN6	-	NULL		0.478	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	G	NM_001286		11867239	+1	no_errors	ENST00000346436	ensembl	human	known	70_37	missense	SNP	1.000	T
CLCA4	22802	genome.wustl.edu	37	1	87036839	87036839	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:87036839C>A	ENST00000370563.3	+	8	1304	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	RP4-651E10.4_ENST00000456587.1_RNA|CLCA4_ENST00000263723.5_Missense_Mutation_p.S134Y|CLCA4_ENST00000496322.1_3'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	421	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACTGCAAGTTCTTGTATTGAT	0.438																																																	0													279.0	266.0	270.0					1																	87036839		1955	4149	6104	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1262C>A	1.37:g.87036839C>A	ENSP00000359594:p.Ser421Tyr		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.S421Y	ENST00000370563.3	37	c.1262	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454654	0.63290	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.14766	2.48;2.48	6.17	-11.3	0.00108	von Willebrand factor, type A (3);	2.223410	0.01193	N	0.007371	T	0.17109	0.0411	M	0.83223	2.63	0.09310	N	1	D	0.55385	0.971	P	0.62491	0.903	T	0.47032	-0.9148	10	0.41790	T	0.15	-0.0342	11.6907	0.51514	0.4655:0.3877:0.1469:0.0	.	421	Q14CN2	CLCA4_HUMAN	Y	421;134	ENSP00000359594:S421Y;ENSP00000263723:S134Y	ENSP00000263723:S134Y	S	+	2	0	CLCA4	86809427	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.375000	0.00244	-1.756000	0.01318	-0.211000	0.12701	TCT	CLCA4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot		0.438	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	HGNC	protein_coding	OTTHUMT00000028292.1	C	NM_012128		87036839	+1	no_errors	ENST00000370563	ensembl	human	known	70_37	missense	SNP	0.000	A
CLDN18	51208	genome.wustl.edu	37	3	137729205	137729205	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:137729205C>T	ENST00000183605.5	+	1	364	c.138C>T	c.(136-138)taC>taT	p.Y46Y	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	46					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TGTTCCAGTACGAAGGGCTCT	0.632																																																	0													75.0	68.0	70.0					3																	137729205		2203	4300	6503	SO:0001819	synonymous_variant	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.138C>T	3.37:g.137729205C>T			A5PL21|Q96PH4	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.Y46	ENST00000183605.5	37	c.138	CCDS3095.1	3																																																																																			CLDN18	-	pfam_PMP22/EMP/MP20/Claudin		0.632	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357199.2	C	NM_001002026		137729205	+1	no_errors	ENST00000183605	ensembl	human	known	70_37	silent	SNP	0.990	T
CLDN25	644672	genome.wustl.edu	37	11	113651087	113651087	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:113651087A>G	ENST00000453129.2	+	1	619	c.570A>G	c.(568-570)ggA>ggG	p.G190G		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CCTGCCTGGGAAAAGAAGATG	0.562																																																	0													82.0	83.0	83.0					11																	113651087		1992	4175	6167	SO:0001819	synonymous_variant	644672				CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.570A>G	11.37:g.113651087A>G				Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.G190	ENST00000453129.2	37	c.570	CCDS44736.1	11																																																																																			CLDN25	-	NULL		0.562	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CLDN25	HGNC	protein_coding	OTTHUMT00000398706.1	A	NM_001101389		113651087	+1	no_errors	ENST00000453129	ensembl	human	known	70_37	silent	SNP	0.606	G
CLEC18B	497190	genome.wustl.edu	37	16	74444526	74444526	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:74444526G>T	ENST00000339953.5	-	10	1240	c.1119C>A	c.(1117-1119)ctC>ctA	p.L373L		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	373	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTTGTAGGTGAGCCCTGGGC	0.637																																																	0													24.0	28.0	26.0					16																	74444526		2190	4263	6453	SO:0001819	synonymous_variant	497190			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1119C>A	16.37:g.74444526G>T			B4DF90	Silent	SNP	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.L373	ENST00000339953.5	37	c.1119	CCDS32484.1	16																																																																																			CLEC18B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.637	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	HGNC	protein_coding	OTTHUMT00000434697.1	G	NM_001011880		74444526	-1	no_errors	ENST00000339953	ensembl	human	known	70_37	silent	SNP	1.000	T
CLEC9A	283420	genome.wustl.edu	37	12	10194129	10194129	+	5'UTR	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:10194129C>A	ENST00000355819.1	+	0	361				CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A						positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GCTATGGGTTCTTCAAACACA	0.443																																																	0																																										SO:0001623	5_prime_UTR_variant	283420				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.-253C>A	12.37:g.10194129C>A			B0ZBM2	RNA	SNP	-	NULL	ENST00000355819.1	37	NULL	CCDS8611.1	12																																																																																			CLEC9A	-	-		0.443	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CLEC9A	HGNC	protein_coding	OTTHUMT00000399564.1	C	NM_207345		10194129	+1	no_errors	ENST00000544751	ensembl	human	known	70_37	rna	SNP	0.986	A
CLHC1	130162	genome.wustl.edu	37	2	55403113	55403113	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:55403113T>C	ENST00000401408.1	-	13	1919	c.1574A>G	c.(1573-1575)gAa>gGa	p.E525G	CLHC1_ENST00000407122.1_Missense_Mutation_p.E525G|CLHC1_ENST00000494539.1_5'UTR|CLHC1_ENST00000406437.2_Missense_Mutation_p.E76G|CLHC1_ENST00000406076.1_Missense_Mutation_p.E403G	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	525																	CATAAGACTTTCTACTGCATC	0.303																																																	0													78.0	78.0	78.0					2																	55403113		2203	4300	6503	SO:0001583	missense	130162				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1574A>G	2.37:g.55403113T>C	ENSP00000384869:p.Glu525Gly		B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel	p.E525G	ENST00000401408.1	37	c.1574	CCDS33201.1	2	.	.	.	.	.	.	.	.	.	.	T	12.69	2.012390	0.35511	.	.	ENSG00000162994	ENST00000406437;ENST00000407122;ENST00000401408;ENST00000406076	T;T;T;T	0.37752	1.18;2.07;2.07;2.07	5.91	5.91	0.95273	.	0.064526	0.64402	D	0.000019	T	0.53883	0.1824	M	0.73598	2.24	0.19775	N	0.999951	D	0.69078	0.997	P	0.59643	0.861	T	0.56032	-0.8046	10	0.72032	D	0.01	-20.2455	10.3932	0.44185	0.0:0.0:0.1639:0.8361	.	525	Q8NHS4	CB063_HUMAN	G	76;525;525;403	ENSP00000384810:E76G;ENSP00000385778:E525G;ENSP00000384869:E525G;ENSP00000385512:E403G	ENSP00000384869:E525G	E	-	2	0	C2orf63	55256617	0.301000	0.24444	0.128000	0.21923	0.095000	0.18619	1.203000	0.32284	2.270000	0.75569	0.528000	0.53228	GAA	CLHC1	-	pirsf_Clathrin_heavy-chain-rel		0.303	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CLHC1	HGNC	protein_coding	OTTHUMT00000324412.4	T	NM_152385		55403113	-1	no_errors	ENST00000401408	ensembl	human	known	70_37	missense	SNP	0.154	C
CLIC5	53405	genome.wustl.edu	37	6	46047901	46047901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:46047901C>A	ENST00000185206.6	-	1	231	c.79G>T	c.(79-81)Gaa>Taa	p.E27*		NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	27					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTTTCATTTTCTTCTGGCTGG	0.413																																																	0													132.0	110.0	116.0					6																	46047901		692	1591	2283	SO:0001587	stop_gained	53405			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.79G>T	6.37:g.46047901C>A	ENSP00000185206:p.Glu27*		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Nonsense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.E27*	ENST00000185206.6	37	c.79	CCDS47438.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.930437	0.97116	.	.	ENSG00000112782	ENST00000185206	.	.	.	5.1	4.21	0.49690	.	0.385798	0.26075	N	0.026499	.	.	.	.	.	.	0.24729	N	0.993106	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	10.8941	0.47012	0.1876:0.8124:0.0:0.0	.	.	.	.	X	27	.	ENSP00000185206:E27X	E	-	1	0	CLIC5	46155860	0.516000	0.26218	0.015000	0.15790	0.212000	0.24457	3.533000	0.53561	1.474000	0.48178	0.655000	0.94253	GAA	CLIC5	-	NULL		0.413	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	C			46047901	-1	no_errors	ENST00000185206	ensembl	human	known	70_37	nonsense	SNP	0.028	A
CLIP2	7461	genome.wustl.edu	37	7	73753046	73753046	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:73753046C>T	ENST00000395060.1	+	2	390	c.390C>T	c.(388-390)ttC>ttT	p.F130F	CLIP2_ENST00000361545.5_Silent_p.F130F|CLIP2_ENST00000223398.6_Silent_p.F130F			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	130	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGCGCTACTTCGAGTGCCCGG	0.701																																																	0													36.0	34.0	34.0					7																	73753046		2193	4295	6488	SO:0001819	synonymous_variant	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.390C>T	7.37:g.73753046C>T			O14527|O43611	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.F130	ENST00000395060.1	37	c.390	CCDS5569.1	7																																																																																			CLIP2	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain		0.701	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	C	NM_003388		73753046	+1	no_errors	ENST00000223398	ensembl	human	known	70_37	silent	SNP	0.999	T
CLIP3	25999	genome.wustl.edu	37	19	36508779	36508779	+	Missense_Mutation	SNP	C	C	T	rs370765485		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:36508779C>T	ENST00000360535.4	-	10	1525	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R433H	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	433					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCGTAGAAGCGCACGATCCC	0.637																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	103.0	95.0	98.0		1298,1298	4.7	1.0	19		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CLIP3	NM_015526.2,NM_001199570.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	433/548,433/548	36508779	1,13005	2203	4300	6503	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1298G>A	19.37:g.36508779C>T	ENSP00000353732:p.Arg433His		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.R433H	ENST00000360535.4	37	c.1298	CCDS12486.1	19	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741237	0.69304	0.0	1.16E-4	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	D	0.82803	-1.65	4.65	4.65	0.58169	Cytoskeleton-associated protein, Gly-rich domain (3);	0.069153	0.64402	D	0.000008	D	0.87354	0.6156	M	0.93678	3.445	0.58432	D	0.999999	B	0.15141	0.012	B	0.10450	0.005	D	0.87308	0.2310	10	0.87932	D	0	-17.5654	15.0547	0.71904	0.0:1.0:0.0:0.0	.	433	Q96DZ5	CLIP3_HUMAN	H	433;315;409	ENSP00000353732:R433H	ENSP00000353732:R433H	R	-	2	0	CLIP3	41200619	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.090000	0.76916	2.416000	0.81992	0.561000	0.74099	CGC	CLIP3	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain		0.637	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP3	HGNC	protein_coding	OTTHUMT00000457426.1	C	NM_015526		36508779	-1	no_errors	ENST00000360535	ensembl	human	known	70_37	missense	SNP	1.000	T
CLK1	1195	genome.wustl.edu	37	2	201721630	201721630	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:201721630G>A	ENST00000321356.4	-	8	1046	c.911C>T	c.(910-912)gCg>gTg	p.A304V	CLK1_ENST00000434813.2_Missense_Mutation_p.A346V|CLK1_ENST00000409769.2_Missense_Mutation_p.A127V	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GGGATTATACGCCTCTGTGTA	0.338																																																	0													107.0	109.0	109.0					2																	201721630		2203	4300	6503	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.911C>T	2.37:g.201721630G>A	ENSP00000326830:p.Ala304Val		B4DFW7|Q0P694|Q8N5V8	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.A304V	ENST00000321356.4	37	c.911	CCDS2331.1	2	.	.	.	.	.	.	.	.	.	.	G	2.944	-0.218306	0.06101	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.68903	-0.22;-0.36;-0.24	5.21	0.683	0.17998	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.557663	0.20726	N	0.086816	T	0.36193	0.0958	N	0.11255	0.115	0.09310	N	1	B;B;B;B	0.11235	0.004;0.0;0.002;0.002	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.07673	-1.0760	10	0.18710	T	0.47	.	2.1479	0.03791	0.2434:0.105:0.4773:0.1744	.	346;274;304;127	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	V	304;274;127;346	ENSP00000326830:A304V;ENSP00000386358:A127V;ENSP00000394734:A346V	ENSP00000326830:A304V	A	-	2	0	CLK1	201429875	0.002000	0.14202	0.564000	0.28396	0.837000	0.47467	1.276000	0.33156	0.311000	0.23014	-0.350000	0.07774	GCG	CLK1	-	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		0.338	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	G			201721630	-1	no_errors	ENST00000321356	ensembl	human	known	70_37	missense	SNP	0.001	A
CLK4	57396	genome.wustl.edu	37	5	178043942	178043942	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:178043942G>A	ENST00000316308.4	-	5	651	c.483C>T	c.(481-483)atC>atT	p.I161I	RN7SKP70_ENST00000516655.1_RNA|CLK4_ENST00000522749.1_5'UTR	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		AAGTGTCCACGATTTCATCTA	0.373																																																	0													100.0	92.0	95.0					5																	178043942		2203	4300	6503	SO:0001819	synonymous_variant	57396			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.483C>T	5.37:g.178043942G>A				Missense_Mutation	SNP	NULL	p.S131L	ENST00000316308.4	37	c.392	CCDS4437.1	5																																																																																			CLK4	-	NULL		0.373	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	HGNC	protein_coding	OTTHUMT00000253479.2	G			178043942	-1	no_errors	ENST00000522136	ensembl	human	known	70_37	missense	SNP	1.000	A
CLMN	79789	genome.wustl.edu	37	14	95669685	95669685	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:95669685A>G	ENST00000298912.4	-	9	2114	c.2001T>C	c.(1999-2001)cgT>cgC	p.R667R		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	667					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CATAATGAGGACGGGTGGACT	0.542																																																	0													114.0	103.0	107.0					14																	95669685		2203	4300	6503	SO:0001819	synonymous_variant	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2001T>C	14.37:g.95669685A>G			B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R667	ENST00000298912.4	37	c.2001	CCDS9933.1	14																																																																																			CLMN	-	NULL		0.542	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2	A			95669685	-1	no_errors	ENST00000298912	ensembl	human	known	70_37	silent	SNP	0.000	G
CLSTN2	64084	genome.wustl.edu	37	3	140122483	140122483	+	Missense_Mutation	SNP	C	C	T	rs529034321		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:140122483C>T	ENST00000458420.3	+	3	435	c.245C>T	c.(244-246)gCg>gTg	p.A82V	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	82	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAAATCTGTGCGTTCAAGATC	0.532										HNSCC(16;0.037)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18997	0.0		0.0	False		,,,				2504	0.001				GBM(45;858 913 3709 36904 37282)												0													165.0	157.0	160.0					3																	140122483		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.245C>T	3.37:g.140122483C>T	ENSP00000402460:p.Ala82Val		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A82V	ENST00000458420.3	37	c.245	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040343	0.75732	.	.	ENSG00000158258	ENST00000458420	T	0.37584	1.19	5.63	5.63	0.86233	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	L	0.38838	1.175	0.54753	D	0.999985	D	0.67145	0.996	P	0.54664	0.758	T	0.15636	-1.0430	10	0.40728	T	0.16	8.0285	17.1916	0.86881	0.0:1.0:0.0:0.0	.	82	Q9H4D0	CSTN2_HUMAN	V	82	ENSP00000402460:A82V	ENSP00000402460:A82V	A	+	2	0	CLSTN2	141605173	0.971000	0.33674	0.875000	0.34327	0.789000	0.44602	2.229000	0.42990	2.649000	0.89929	0.650000	0.86243	GCG	CLSTN2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.532	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	C	NM_022131		140122483	+1	no_errors	ENST00000458420	ensembl	human	known	70_37	missense	SNP	0.981	T
CLTC	1213	genome.wustl.edu	37	17	57759153	57759153	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:57759153A>G	ENST00000269122.3	+	21	3669	c.3395A>G	c.(3394-3396)gAt>gGt	p.D1132G	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.D1132G	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1132	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATCAAAGCAGATGATCCTTCC	0.413			T	"""ALK, TFE3"""	"""ALCL, renal """																																			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0													109.0	100.0	103.0					17																	57759153		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3395A>G	17.37:g.57759153A>G	ENSP00000269122:p.Asp1132Gly		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.D1132G	ENST00000269122.3	37	c.3395	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326350	0.41197	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.18657	2.2;2.2	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	L	0.46670	1.46	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.04255	-1.0965	10	0.19590	T	0.45	.	15.9147	0.79503	1.0:0.0:0.0:0.0	.	1132;1132	Q00610;Q00610-2	CLH1_HUMAN;.	G	1132	ENSP00000269122:D1132G;ENSP00000376763:D1132G	ENSP00000269122:D1132G	D	+	2	0	CLTC	55113935	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.287000	0.95975	2.227000	0.72691	0.460000	0.39030	GAT	CLTC	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.413	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	A	NM_004859		57759153	+1	no_errors	ENST00000269122	ensembl	human	known	70_37	missense	SNP	1.000	G
CLUL1	27098	genome.wustl.edu	37	18	641528	641528	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:641528T>G	ENST00000400606.2	+	7	1341	c.1196T>G	c.(1195-1197)tTt>tGt	p.F399C	C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000579494.1_Missense_Mutation_p.F399C|CLUL1_ENST00000581619.1_Missense_Mutation_p.F424C|CLUL1_ENST00000540035.1_Missense_Mutation_p.F451C|CLUL1_ENST00000338387.7_Missense_Mutation_p.F399C	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	399					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GAGATCATCTTTAATTCAATA	0.443																																																	0													69.0	69.0	69.0					18																	641528		1897	4104	6001	SO:0001583	missense	27098			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1196T>G	18.37:g.641528T>G	ENSP00000383449:p.Phe399Cys		A0FDN7	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.F399C	ENST00000400606.2	37	c.1196	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783365	0.31593	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.33216	1.42;1.42;1.42	5.45	4.25	0.50352	Clusterin, C-terminal (1);	0.051231	0.85682	D	0.000000	T	0.51278	0.1665	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.98;0.987	T	0.52230	-0.8603	10	0.87932	D	0	-1.7018	11.1852	0.48653	0.0:0.0:0.1539:0.8461	.	451;399	F5GWQ8;Q15846	.;CLUL1_HUMAN	C	399;451;399	ENSP00000383449:F399C;ENSP00000441726:F451C;ENSP00000341128:F399C	ENSP00000341128:F399C	F	+	2	0	CLUL1	631528	0.997000	0.39634	0.055000	0.19348	0.132000	0.20833	2.571000	0.45990	0.856000	0.35383	0.460000	0.39030	TTT	CLUL1	-	pfam_Clusterin-like,smart_Clusterin_C		0.443	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	HGNC	protein_coding	OTTHUMT00000441183.1	T			641528	+1	no_errors	ENST00000338387	ensembl	human	known	70_37	missense	SNP	0.965	G
CMTM2	146225	genome.wustl.edu	37	16	66620928	66620928	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:66620928C>T	ENST00000268595.2	+	3	624	c.473C>T	c.(472-474)gCg>gTg	p.A158V	CMTM2_ENST00000379486.2_Missense_Mutation_p.A105V	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	158	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		ATTGCTTGTGCGTTCCTTGTG	0.542																																																	0													237.0	180.0	200.0					16																	66620928		2201	4300	6501	SO:0001583	missense	146225			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.473C>T	16.37:g.66620928C>T	ENSP00000268595:p.Ala158Val		Q5I2A4|Q8N7E5	Missense_Mutation	SNP	NULL	p.A158V	ENST00000268595.2	37	c.473	CCDS10814.1	16	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.991040	0.00439	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.38722	1.12;1.74	4.05	-8.1	0.01086	Marvel (1);	2.956890	0.01235	N	0.008461	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43893	-0.9363	10	0.02654	T	1	16.2094	10.7626	0.46274	0.0:0.3926:0.3751:0.2323	.	105;158	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	V	105;158	ENSP00000368800:A105V;ENSP00000268595:A158V	ENSP00000268595:A158V	A	+	2	0	CMTM2	65178429	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.713000	0.00386	-4.674000	0.00036	-0.997000	0.02515	GCG	CMTM2	-	NULL		0.542	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMTM2	HGNC	protein_coding	OTTHUMT00000268808.1	C			66620928	+1	no_errors	ENST00000268595	ensembl	human	known	70_37	missense	SNP	0.000	T
CMYA5	202333	genome.wustl.edu	37	5	79029421	79029421	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:79029421A>T	ENST00000446378.2	+	2	4864	c.4833A>T	c.(4831-4833)caA>caT	p.Q1611H		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1611					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAAAAACAAGATGTTGCTT	0.453																																																	0													109.0	109.0	109.0					5																	79029421		1872	4100	5972	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4833A>T	5.37:g.79029421A>T	ENSP00000394770:p.Gln1611His		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.Q1611H	ENST00000446378.2	37	c.4833	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998264	0.35226	.	.	ENSG00000164309	ENST00000446378	T	0.04234	3.67	5.08	-0.266	0.12942	.	1.476590	0.04054	N	0.305233	T	0.05227	0.0139	L	0.39898	1.24	0.09310	N	1	B	0.17465	0.022	B	0.15484	0.013	T	0.43294	-0.9400	10	0.56958	D	0.05	.	3.457	0.07519	0.5421:0.0:0.2805:0.1774	.	1611	Q8N3K9	CMYA5_HUMAN	H	1611	ENSP00000394770:Q1611H	ENSP00000394770:Q1611H	Q	+	3	2	CMYA5	79065177	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	0.589000	0.23939	-0.279000	0.09167	0.533000	0.62120	CAA	CMYA5	-	NULL		0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	A	NM_153610		79029421	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.001	T
CNBD2	140894	genome.wustl.edu	37	20	34572030	34572030	+	Silent	SNP	G	G	A	rs368014098		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:34572030G>A	ENST00000373973.3	+	5	707	c.534G>A	c.(532-534)ccG>ccA	p.P178P	CNBD2_ENST00000349339.1_Silent_p.P178P|CNBD2_ENST00000538900.1_Silent_p.P178P			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	178																	ATCCCCACCCGAAATTGCTGC	0.547																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	95.0	79.0	84.0		534,534	-10.9	0.0	20		84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C20orf152	NM_001207076.1,NM_080834.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	178/424,178/573	34572030	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.534G>A	20.37:g.34572030G>A			Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P178	ENST00000373973.3	37	c.534		20																																																																																			CNBD2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.547	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	G	NM_080834		34572030	+1	no_errors	ENST00000373973	ensembl	human	known	70_37	silent	SNP	0.000	A
CNGA2	1260	genome.wustl.edu	37	X	150912703	150912703	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:150912703G>T	ENST00000329903.4	+	6	1761	c.1728G>T	c.(1726-1728)gaG>gaT	p.E576D		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	576					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGTCGGGAGATCCTCATGA	0.527																																																	0													148.0	126.0	134.0					X																	150912703		2203	4300	6503	SO:0001583	missense	1260			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1728G>T	X.37:g.150912703G>T	ENSP00000328478:p.Glu576Asp		A0AVD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E576D	ENST00000329903.4	37	c.1728	CCDS14701.1	X	.	.	.	.	.	.	.	.	.	.	G	9.184	1.024267	0.19433	.	.	ENSG00000183862	ENST00000329903	D	0.97505	-4.41	5.33	4.27	0.50696	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.052067	0.85682	D	0.000000	D	0.93890	0.8045	L	0.45581	1.43	0.42050	D	0.991114	B	0.12013	0.005	B	0.11329	0.006	D	0.91079	0.4898	10	0.62326	D	0.03	.	7.2473	0.26129	0.2182:0.0:0.7818:0.0	.	576	Q16280	CNGA2_HUMAN	D	576	ENSP00000328478:E576D	ENSP00000328478:E576D	E	+	3	2	CNGA2	150663359	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.668000	0.46816	2.216000	0.71823	0.529000	0.55759	GAG	CNGA2	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom		0.527	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA2	HGNC	protein_coding	OTTHUMT00000060888.1	G	NM_005140		150912703	+1	no_errors	ENST00000329903	ensembl	human	known	70_37	missense	SNP	1.000	T
CNIH3	149111	genome.wustl.edu	37	1	224918219	224918219	+	Missense_Mutation	SNP	C	C	T	rs529360966		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:224918219C>T	ENST00000272133.3	+	4	1136	c.254C>T	c.(253-255)gCg>gTg	p.A85V	RP11-3L21.2_ENST00000431691.1_RNA	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	85					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TTCCTGTGTGCGCAAGAGTGG	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		21932	0.0		0.0	False		,,,				2504	0.001																0													146.0	113.0	124.0					1																	224918219		2201	4286	6487	SO:0001583	missense	149111			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.254C>T	1.37:g.224918219C>T	ENSP00000272133:p.Ala85Val			Missense_Mutation	SNP	pfam_Cornichon	p.A85V	ENST00000272133.3	37	c.254	CCDS1544.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.074928	0.94000	.	.	ENSG00000143786	ENST00000272133	T	0.44083	0.93	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	M	0.71581	2.175	0.80722	D	1	D	0.58970	0.984	P	0.51974	0.686	T	0.58476	-0.7630	10	0.39692	T	0.17	-13.7486	17.5583	0.87898	0.0:1.0:0.0:0.0	.	85	Q8TBE1	CNIH3_HUMAN	V	85	ENSP00000272133:A85V	ENSP00000272133:A85V	A	+	2	0	CNIH3	222984842	1.000000	0.71417	0.617000	0.29091	0.970000	0.65996	7.818000	0.86416	2.121000	0.65114	0.650000	0.86243	GCG	CNIH3	-	pfam_Cornichon		0.512	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNIH3	HGNC	protein_coding	OTTHUMT00000091752.2	C	NM_152495		224918219	+1	no_errors	ENST00000272133	ensembl	human	known	70_37	missense	SNP	1.000	T
CNKSR2	22866	genome.wustl.edu	37	X	21613112	21613112	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:21613112C>A	ENST00000379510.3	+	16	1887	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.F617L|CNKSR2_ENST00000543067.1_Missense_Mutation_p.F568L|CNKSR2_ENST00000425654.2_Missense_Mutation_p.F587L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	617	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGAAGGATTCATTAGCCTGC	0.338																																																	0													56.0	53.0	54.0					X																	21613112		2203	4299	6502	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1851C>A	X.37:g.21613112C>A	ENSP00000368824:p.Phe617Leu		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.F617L	ENST00000379510.3	37	c.1851	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746045	0.69418	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.56	4.7	0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	N	0.20986	0.625	0.46586	D	0.99911	B;D;D;D	0.76494	0.368;0.999;0.986;0.998	B;D;D;D	0.74348	0.382;0.977;0.972;0.983	T	0.68164	-0.5481	10	0.02654	T	1	-0.8453	11.7843	0.52032	0.0:0.8491:0.0:0.1509	.	587;568;209;617	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	L	587;568;617;617	ENSP00000397906:F587L;ENSP00000444633:F568L;ENSP00000279451:F617L;ENSP00000368824:F617L	ENSP00000279451:F617L	F	+	3	2	CNKSR2	21523033	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.889000	0.28282	1.224000	0.43551	0.538000	0.68166	TTC	CNKSR2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.338	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	C	NM_014927		21613112	+1	no_errors	ENST00000379510	ensembl	human	known	70_37	missense	SNP	1.000	A
CNOT10	25904	genome.wustl.edu	37	3	32801030	32801030	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:32801030T>G	ENST00000328834.5	+	14	1992	c.1676T>G	c.(1675-1677)cTt>cGt	p.L559R	CNOT10_ENST00000538368.1_Missense_Mutation_p.L331R|CNOT10_ENST00000331889.6_Missense_Mutation_p.L532R|CNOT10_ENST00000454516.2_Missense_Mutation_p.L619R	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	559					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GCAGATAAACTTCTTCAGCAG	0.463																																																	0													355.0	343.0	347.0					3																	32801030		2203	4300	6503	SO:0001583	missense	25904			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1676T>G	3.37:g.32801030T>G	ENSP00000330060:p.Leu559Arg		B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat	p.L619R	ENST00000328834.5	37	c.1856	CCDS2655.1	3	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773836	0.90108	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	T;T;T;T;T	0.60797	1.47;1.47;0.16;1.47;1.11	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.78438	0.4283	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.995;0.999;0.998	T	0.81707	-0.0810	10	0.72032	D	0.01	-13.8055	16.1773	0.81862	0.0:0.0:0.0:1.0	.	619;532;558;559	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	R	532;559;331;619;106	ENSP00000329376:L532R;ENSP00000330060:L559R;ENSP00000442552:L331R;ENSP00000399862:L619R;ENSP00000395385:L106R	ENSP00000330060:L559R	L	+	2	0	CNOT10	32776034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.777000	0.85628	2.217000	0.71921	0.482000	0.46254	CTT	CNOT10	-	NULL		0.463	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT10	HGNC	protein_coding	OTTHUMT00000253248.2	T	NM_015442		32801030	+1	no_errors	ENST00000454516	ensembl	human	known	70_37	missense	SNP	1.000	G
CNOT6	57472	genome.wustl.edu	37	5	179996326	179996326	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:179996326C>A	ENST00000393356.1	+	12	1668	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y	CNOT6_ENST00000261951.4_Missense_Mutation_p.S415Y			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	415	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GATCTTAATTCTTTGCCAGAC	0.318																																																	0													98.0	99.0	99.0					5																	179996326		2203	4300	6503	SO:0001583	missense	57472			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1244C>A	5.37:g.179996326C>A	ENSP00000377024:p.Ser415Tyr		A7MD46|D3DWR0	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.S415Y	ENST00000393356.1	37	c.1244	CCDS4455.1	5	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693713	0.88735	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.80909	-1.43;-1.43	5.49	5.49	0.81192	Endonuclease/exonuclease/phosphatase (2);	0.102169	0.64402	D	0.000001	D	0.92993	0.7770	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94557	0.7759	9	.	.	.	-12.983	19.3922	0.94587	0.0:1.0:0.0:0.0	.	415	Q9ULM6	CNOT6_HUMAN	Y	415	ENSP00000261951:S415Y;ENSP00000377024:S415Y	.	S	+	2	0	CNOT6	179928932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.566000	0.86566	0.563000	0.77884	TCT	CNOT6	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.318	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	HGNC	protein_coding	OTTHUMT00000253532.1	C	NM_015455		179996326	+1	no_errors	ENST00000261951	ensembl	human	known	70_37	missense	SNP	1.000	A
CNTF	1270	genome.wustl.edu	37	11	58391931	58391931	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:58391931C>A	ENST00000361987.4	+	2	619	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	180					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CGTTTCATTTCTTCTCATCAG	0.473																																																	0													97.0	100.0	99.0					11																	58391931		2201	4295	6496	SO:0001583	missense	1270			BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.539C>A	11.37:g.58391931C>A	ENSP00000355370:p.Ser180Tyr		B2RAB2	Missense_Mutation	SNP	pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core	p.S180Y	ENST00000361987.4	37	c.539	CCDS31554.1	11	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514819	0.64634	.	.	ENSG00000242689	ENST00000361987	T	0.42513	0.97	5.51	5.51	0.81932	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.59321	0.2185	M	0.69823	2.125	0.28047	N	0.933513	D	0.56287	0.975	P	0.59424	0.857	T	0.57388	-0.7820	9	0.72032	D	0.01	-4.952	11.957	0.52986	0.1733:0.8267:0.0:0.0	.	180	P26441	CNTF_HUMAN	Y	180	ENSP00000355370:S180Y	ENSP00000447778:S180Y	S	+	2	0	CNTF	58148507	0.714000	0.27936	0.878000	0.34440	0.958000	0.62258	1.795000	0.38784	2.594000	0.87642	0.650000	0.86243	TCT	CNTF	-	pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core		0.473	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTF	HGNC	protein_coding	OTTHUMT00000268673.1	C	NM_000614		58391931	+1	no_errors	ENST00000361987	ensembl	human	known	70_37	missense	SNP	0.575	A
CNTNAP3B	728577	genome.wustl.edu	37	9	43815872	43815872	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:43815872C>A	ENST00000377564.3	+	5	1019	c.626C>A	c.(625-627)tCt>tAt	p.S209Y	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S209Y	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	209	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GATGTTATTTCTTTGAAATTT	0.338																																																	0																																										SO:0001583	missense	728577			BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.626C>A	9.37:g.43815872C>A	ENSP00000366787:p.Ser209Tyr		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S209Y	ENST00000377564.3	37	c.626	CCDS55312.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.82|16.82	3.227390|3.227390	0.58668|0.58668	.|.	.|.	ENSG00000154529|ENSG00000154529	ENST00000377561|ENST00000377564;ENST00000276974;ENST00000341990;ENST00000403166	.|D;D	.|0.81499	.|-1.5;-1.5	2.77|2.77	2.77|2.77	0.32553|0.32553	.|.	.|.	.|.	.|.	.|.	D|D	0.88749|0.88749	0.6521|0.6521	M|M	0.90759|0.90759	3.145|3.145	0.29103|0.29103	N|N	0.881329|0.881329	.|.	.|.	.|.	.|.	.|.	.|.	D|D	0.83896|0.83896	0.0287|0.0287	5|7	.|0.56958	.|D	.|0.05	.|.	12.6576|12.6576	0.56795|0.56795	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	I|Y	258|209	.|ENSP00000366787:S209Y;ENSP00000276974:S209Y	.|ENSP00000276974:S209Y	L|S	+|+	1|2	0|0	CNTNAP3B|CNTNAP3B	43755868|43755868	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.843000|0.843000	0.47879|0.47879	4.477000|4.477000	0.60223|0.60223	1.575000|1.575000	0.49775|0.49775	0.413000|0.413000	0.27773|0.27773	CTT|TCT	CNTNAP3B	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.338	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3B	HGNC	protein_coding	OTTHUMT00000036930.3	C			43815872	+1	no_errors	ENST00000377564	ensembl	human	known	70_37	missense	SNP	1.000	A
CNTNAP4	85445	genome.wustl.edu	37	16	76481986	76481986	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:76481986G>T	ENST00000476707.1	+	4	764	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.D205Y|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D181Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D205Y|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	206					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCCAATAAAAGACATTATTTC	0.393																																																	0													78.0	79.0	79.0					16																	76481986		2198	4300	6498	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.625G>T	16.37:g.76481986G>T	ENSP00000417628:p.Asp209Tyr		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.D205Y	ENST00000476707.1	37	c.613		16	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388885	0.82902	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.171768	0.27294	N	0.020034	D	0.88492	0.6451	.	.	.	0.58432	D	0.999999	D;P;D;D	0.76494	0.975;0.911;0.995;0.999	P;P;P;D	0.67900	0.764;0.764;0.885;0.954	D	0.89636	0.3859	9	0.87932	D	0	.	18.9572	0.92664	0.0:0.0:1.0:0.0	.	181;209;181;206	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	Y	205;205;181;209	ENSP00000306893:D205Y;ENSP00000439733:D205Y;ENSP00000418741:D181Y;ENSP00000417628:D209Y	ENSP00000306893:D205Y	D	+	1	0	CNTNAP4	75039487	1.000000	0.71417	0.915000	0.36163	0.979000	0.70002	6.096000	0.71446	2.710000	0.92621	0.563000	0.77884	GAC	CNTNAP4	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.393	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	G	NM_033401		76481986	+1	no_errors	ENST00000307431	ensembl	human	known	70_37	missense	SNP	1.000	T
CNTNAP5	129684	genome.wustl.edu	37	2	124999880	124999880	+	Silent	SNP	C	C	T	rs369801109		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:124999880C>T	ENST00000431078.1	+	3	655	c.291C>T	c.(289-291)taC>taT	p.Y97Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	97	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGGAAGATACGGAAGCTCTG	0.527																																																	0								C		0,4110		0,0,2055	75.0	81.0	79.0		291	-3.4	1.0	2		79	2,8404		0,2,4201	no	coding-synonymous	CNTNAP5	NM_130773.2		0,2,6256	TT,TC,CC		0.0238,0.0,0.016		97/1307	124999880	2,12514	2055	4203	6258	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.291C>T	2.37:g.124999880C>T			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.Y97	ENST00000431078.1	37	c.291	CCDS46401.1	2																																																																																			CNTNAP5	-	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		0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	C			124999880	+1	no_errors	ENST00000431078	ensembl	human	known	70_37	silent	SNP	0.874	T
COCH	1690	genome.wustl.edu	37	14	31358935	31358935	+	Nonsense_Mutation	SNP	G	G	T	rs149072811		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:31358935G>T	ENST00000396618.3	+	12	1647	c.1591G>T	c.(1591-1593)Gaa>Taa	p.E531*	RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000460581.2_Nonsense_Mutation_p.E419*|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Intron|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000216361.4_Nonsense_Mutation_p.E531*|COCH_ENST00000382493.4_Nonsense_Mutation_p.E382*	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	531	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CACAGGATTAGAACCAATTGT	0.413																																																	0													88.0	85.0	86.0					14																	31358935		2203	4300	6503	SO:0001587	stop_gained	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1591G>T	14.37:g.31358935G>T	ENSP00000379862:p.Glu531*		A8K9K9|D3DS84|Q96IU6	Nonsense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.E531*	ENST00000396618.3	37	c.1591	CCDS9640.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.479534|6.479534	0.97598|0.97598	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000460581;ENST00000382493|ENST00000468826	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.290535|.	0.36893|.	N|.	0.002342|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.05436|.	T|.	0.98|.	-21.658|-21.658	18.4999|18.4999	0.90877|0.90877	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|Y	531;531;419;382|414	.|.	ENSP00000216361:E531X|.	E|X	+|+	1|3	0|2	COCH|COCH	30428686|30428686	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.930000|2.930000	0.48924|0.48924	2.369000|2.369000	0.80426|0.80426	0.591000|0.591000	0.81541|0.81541	GAA|TAG	COCH	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.413	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	COCH	HGNC	protein_coding	OTTHUMT00000276608.1	G	NM_004086		31358935	+1	no_errors	ENST00000216361	ensembl	human	known	70_37	nonsense	SNP	1.000	T
COG1	9382	genome.wustl.edu	37	17	71192823	71192823	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:71192823C>T	ENST00000299886.4	+	2	573	c.493C>T	c.(493-495)Cga>Tga	p.R165*	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	165					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTCTAGTTCCCGATACAGTCC	0.597																																																	0													105.0	99.0	101.0					17																	71192823		2203	4300	6503	SO:0001587	stop_gained	9382				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.493C>T	17.37:g.71192823C>T	ENSP00000299886:p.Arg165*		Q9NPV9|Q9P2G6	Nonsense_Mutation	SNP	pfam_Vps51	p.R165*	ENST00000299886.4	37	c.493	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718717	0.48622	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	.	.	.	4.89	-2.97	0.05530	.	0.499227	0.21650	N	0.071186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	0.0197	2.0607	0.03592	0.1187:0.4387:0.2071:0.2355	.	.	.	.	X	165	.	ENSP00000299886:R165X	R	+	1	2	COG1	68704418	0.000000	0.05858	0.000000	0.03702	0.777000	0.43975	0.181000	0.16880	-0.346000	0.08312	0.650000	0.86243	CGA	COG1	-	NULL		0.597	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	C			71192823	+1	no_errors	ENST00000299886	ensembl	human	known	70_37	nonsense	SNP	0.000	T
COL11A1	1301	genome.wustl.edu	37	1	103352442	103352442	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:103352442C>A	ENST00000370096.3	-	63	5091	c.4779G>T	c.(4777-4779)atG>atT	p.M1593I	COL11A1_ENST00000512756.1_Missense_Mutation_p.M1477I|COL11A1_ENST00000358392.2_Missense_Mutation_p.M1605I|COL11A1_ENST00000353414.4_Missense_Mutation_p.M1554I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1593	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGAAATTTCATATGCTCAA	0.408																																																	0													192.0	185.0	187.0					1																	103352442		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4779G>T	1.37:g.103352442C>A	ENSP00000359114:p.Met1593Ile		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.M1605I	ENST00000370096.3	37	c.4815	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738766	0.49045	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.53	5.53	0.82687	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	L	0.35593	1.075	0.80722	D	1	B;B;B;B;B	0.30326	0.021;0.106;0.234;0.276;0.017	B;B;B;B;B	0.29267	0.022;0.042;0.061;0.1;0.013	T	0.50039	-0.8874	10	0.24483	T	0.36	.	19.4555	0.94886	0.0:1.0:0.0:0.0	.	1477;1554;1605;1593;813	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	I	1593;1605;1554;813;1477	ENSP00000359114:M1593I;ENSP00000351163:M1605I;ENSP00000302551:M1554I;ENSP00000426533:M1477I	ENSP00000302551:M1554I	M	-	3	0	COL11A1	103125030	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.892000	0.63193	2.608000	0.88229	0.313000	0.20887	ATG	COL11A1	-	pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C		0.408	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	C	NM_080630		103352442	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	A
COL13A1	1305	genome.wustl.edu	37	10	71562411	71562411	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:71562411G>C	ENST00000398978.3	+	1	724	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	COL13A1_ENST00000398968.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000398972.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000354547.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000398971.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000398974.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000356340.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000357811.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000517713.1_Missense_Mutation_p.E78Q|COL13A1_ENST00000398966.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000520133.1_Missense_Mutation_p.E78Q|COL13A1_ENST00000398964.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000522165.1_Missense_Mutation_p.E78Q|COL13A1_ENST00000398973.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000398969.3_Missense_Mutation_p.E78Q|COL13A1_ENST00000520267.1_Missense_Mutation_p.E78Q	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CCTGGAAGCGGAGCGCGGGGA	0.647																																																	0													120.0	127.0	125.0					10																	71562411		1960	4152	6112	SO:0001583	missense	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.232G>C	10.37:g.71562411G>C	ENSP00000381949:p.Glu78Gln			Missense_Mutation	SNP	pfam_Collagen	p.E78Q	ENST00000398978.3	37	c.232	CCDS44419.1	10	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892607	0.52121	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92249	-2.97;-2.76;-2.79;-2.86;-3.0;-2.87;-2.82;-2.77;-2.83;-2.88;-2.85;-2.86;-2.85;-2.73;-2.8;-2.71	5.36	4.4	0.53042	.	0.000000	0.41938	D	0.000799	D	0.88555	0.6468	N	0.25890	0.77	0.29514	N	0.854011	B;P;B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B	0.47910	0.181;0.902;0.004;0.006;0.006;0.006;0.006;0.006;0.006;0.018;0.011;0.011;0.651;0.277;0.011;0.011;0.006;0.011	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.46543	0.054;0.52;0.019;0.008;0.008;0.008;0.008;0.008;0.008;0.014;0.019;0.019;0.165;0.116;0.019;0.019;0.008;0.019	D	0.85606	0.1255	10	0.44086	T	0.13	-8.5613	14.6543	0.68823	0.0:0.146:0.854:0.0	.	78;78;78;78;78;78;78;78;78;78;78;78;78;78;78;78;78;78	Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	78	ENSP00000381946:E78Q;ENSP00000381943:E78Q;ENSP00000381940:E78Q;ENSP00000381938:E78Q;ENSP00000381936:E78Q;ENSP00000381941:E78Q;ENSP00000348695:E78Q;ENSP00000381944:E78Q;ENSP00000381945:E78Q;ENSP00000381949:E78Q;ENSP00000346553:E78Q;ENSP00000350463:E78Q;ENSP00000428057:E78Q;ENSP00000430061:E78Q;ENSP00000428342:E78Q;ENSP00000430173:E78Q	ENSP00000346553:E78Q	E	+	1	0	COL13A1	71232417	0.997000	0.39634	0.991000	0.47740	0.987000	0.75469	2.650000	0.46665	2.527000	0.85204	0.456000	0.33151	GAG	COL13A1	-	NULL		0.647	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	G	NM_005203		71562411	+1	no_errors	ENST00000356340	ensembl	human	known	70_37	missense	SNP	0.982	C
COL19A1	1310	genome.wustl.edu	37	6	70856566	70856566	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:70856566C>T	ENST00000322773.4	+	26	1888	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	COL19A1_ENST00000393344.1_Missense_Mutation_p.P218S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	596	Collagen-like 5.|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						AGATGGAAATCCTGGAGCACC	0.289																																																	0													38.0	41.0	40.0					6																	70856566		2203	4299	6502	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.1786C>T	6.37:g.70856566C>T	ENSP00000316030:p.Pro596Ser		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.P596S	ENST00000322773.4	37	c.1786	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607639	0.46527	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.97665	-4.48;-4.48	5.83	5.83	0.93111	.	0.136170	0.49916	D	0.000139	D	0.98049	0.9357	M	0.76838	2.35	0.40488	D	0.980518	D	0.69078	0.997	D	0.65323	0.934	D	0.97760	1.0220	10	0.45353	T	0.12	.	18.3144	0.90215	0.0:1.0:0.0:0.0	.	596	Q14993	COJA1_HUMAN	S	596;218	ENSP00000316030:P596S;ENSP00000377013:P218S	ENSP00000316030:P596S	P	+	1	0	COL19A1	70913287	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	3.447000	0.52936	2.770000	0.95276	0.655000	0.94253	CCT	COL19A1	-	pfam_Collagen		0.289	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	C			70856566	+1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	1.000	T
COL22A1	169044	genome.wustl.edu	37	8	139629177	139629177	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:139629177A>C	ENST00000303045.6	-	54	4296	c.3850T>G	c.(3850-3852)Tct>Gct	p.S1284A	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.S1264A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1284	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTGCACCAGAATCGCCTGTG	0.582										HNSCC(7;0.00092)																																							0													78.0	77.0	77.0					8																	139629177		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3850T>G	8.37:g.139629177A>C	ENSP00000303153:p.Ser1284Ala		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.S1284A	ENST00000303045.6	37	c.3850	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	A	2.612	-0.290615	0.05568	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93247	-3.19;-3.19	4.35	-6.06	0.02165	.	0.885977	0.09483	N	0.796023	T	0.76919	0.4055	N	0.04297	-0.235	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.68326	-0.5438	10	0.15952	T	0.53	.	2.578	0.04811	0.2004:0.4138:0.262:0.1237	.	1264;1284	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	A	1284;1264;977	ENSP00000303153:S1284A;ENSP00000387655:S1264A	ENSP00000303153:S1284A	S	-	1	0	COL22A1	139698359	0.321000	0.24625	0.002000	0.10522	0.315000	0.28087	-0.417000	0.07088	-1.217000	0.02604	-0.406000	0.06334	TCT	COL22A1	-	pfam_Collagen		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	A	XM_291257		139629177	-1	no_errors	ENST00000303045	ensembl	human	known	70_37	missense	SNP	0.003	C
COL24A1	255631	genome.wustl.edu	37	1	86487947	86487947	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:86487947C>T	ENST00000370571.2	-	18	2598	c.2232G>A	c.(2230-2232)ggG>ggA	p.G744G	COL24A1_ENST00000436319.1_Silent_p.G744G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	744	Collagen-like 4.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCCTCTCATCCCTGGTGGTC	0.423																																																	0													104.0	103.0	104.0					1																	86487947		1857	4106	5963	SO:0001819	synonymous_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2232G>A	1.37:g.86487947C>T			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G744	ENST00000370571.2	37	c.2232	CCDS41353.1	1																																																																																			COL24A1	-	NULL		0.423	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	C	NM_152890		86487947	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	silent	SNP	0.968	T
COL24A1	255631	genome.wustl.edu	37	1	86488648	86488648	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:86488648G>T	ENST00000370571.2	-	15	2458	c.2092C>A	c.(2092-2094)Cct>Act	p.P698T	COL24A1_ENST00000436319.1_Missense_Mutation_p.P698T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	698	Collagen-like 3.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTGGGCCAGGAATTCCAGCA	0.393																																																	0													62.0	60.0	61.0					1																	86488648		1847	4086	5933	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2092C>A	1.37:g.86488648G>T	ENSP00000359603:p.Pro698Thr		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P698T	ENST00000370571.2	37	c.2092	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535057	0.45073	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.98666	-5.06;-5.06	6.07	6.07	0.98685	.	0.000000	0.39407	N	0.001374	D	0.98639	0.9544	M	0.67517	2.055	0.54753	D	0.99998	P	0.51240	0.943	P	0.60012	0.867	D	0.97996	1.0357	10	0.25106	T	0.35	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	698	Q17RW2	COOA1_HUMAN	T	698	ENSP00000359603:P698T;ENSP00000392531:P698T	ENSP00000359603:P698T	P	-	1	0	COL24A1	86261236	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	4.698000	0.61789	2.885000	0.99019	0.655000	0.94253	CCT	COL24A1	-	NULL		0.393	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	G	NM_152890		86488648	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	missense	SNP	1.000	T
COL25A1	84570	genome.wustl.edu	37	4	109767295	109767295	+	Splice_Site	SNP	C	C	T	rs371922822		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:109767295C>T	ENST00000399132.1	-	28	2045	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P	COL25A1_ENST00000399127.1_Splice_Site_p.P478P|COL25A1_ENST00000399126.1_Splice_Site_p.P505P	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.P505P(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATAAACATACCGGTAATCCAG	0.343																																																	2	Substitution - coding silent(2)	lung(2)						C	,	1,3645		0,1,1822	108.0	101.0	103.0		1515,1515	4.4	1.0	4		103	0,8144		0,0,4072	no	coding-synonymous-near-splice,coding-synonymous-near-splice	COL25A1	NM_032518.2,NM_198721.1	,	0,1,5894	TT,TC,CC		0.0,0.0274,0.0085	,	505/643,505/655	109767295	1,11789	1823	4072	5895	SO:0001630	splice_region_variant	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1515+1G>A	4.37:g.109767295C>T				Silent	SNP	pfam_Collagen	p.P505	ENST00000399132.1	37	c.1515	CCDS43258.1	4																																																																																			COL25A1	-	NULL		0.343	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	C	NM_032518	Silent	109767295	-1	no_errors	ENST00000399132	ensembl	human	known	70_37	silent	SNP	1.000	T
COL2A1	1280	genome.wustl.edu	37	12	48369798	48369798	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:48369798C>T	ENST00000380518.3	-	50	3709	c.3545G>A	c.(3544-3546)gGc>gAc	p.G1182D	COL2A1_ENST00000337299.6_Missense_Mutation_p.G1113D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1182	Triple-helical region.		Missing (in SEDC).		axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCCAATGGGGCCAGGGATTCC	0.617																																																	0													123.0	121.0	122.0					12																	48369798		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3545G>A	12.37:g.48369798C>T	ENSP00000369889:p.Gly1182Asp		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_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.G1182D	ENST00000380518.3	37	c.3545	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302595	0.81136	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99353	-5.77;-5.77	5.0	5.0	0.66597	.	0.067148	0.64402	D	0.000015	D	0.99658	0.9873	H	0.97587	4.035	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	0.997;1.0	D	0.97404	0.9998	10	0.87932	D	0	.	17.064	0.86555	0.0:1.0:0.0:0.0	.	1113;1182	P02458-1;P02458	.;CO2A1_HUMAN	D	1182;1113;1113	ENSP00000369889:G1182D;ENSP00000338213:G1113D	ENSP00000338213:G1113D	G	-	2	0	COL2A1	46656065	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.033000	0.70925	2.318000	0.78349	0.462000	0.41574	GGC	COL2A1	-	pfam_Collagen		0.617	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	C	NM_001844		48369798	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	missense	SNP	1.000	T
COL4A2	1284	genome.wustl.edu	37	13	111155804	111155804	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:111155804C>T	ENST00000360467.5	+	43	4420	c.4114C>T	c.(4114-4116)Ccc>Tcc	p.P1372S	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1372	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCCAAGGGACCCAAGGGAGA	0.607																																																	0													26.0	32.0	31.0					13																	111155804		1880	4106	5986	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4114C>T	13.37:g.111155804C>T	ENSP00000353654:p.Pro1372Ser		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1372S	ENST00000360467.5	37	c.4114	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554281	0.65425	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.90788	-2.73	4.95	4.95	0.65309	.	0.000000	0.52532	D	0.000063	D	0.91492	0.7314	L	0.47078	1.49	0.58432	D	0.999993	D	0.55385	0.971	P	0.59357	0.856	D	0.88039	0.2780	10	0.06757	T	0.87	.	18.21	0.89867	0.0:1.0:0.0:0.0	.	1372	P08572	CO4A2_HUMAN	S	1372	ENSP00000353654:P1372S	ENSP00000257309:P1372S	P	+	1	0	COL4A2	109953805	0.963000	0.33076	1.000000	0.80357	0.984000	0.73092	2.077000	0.41557	2.280000	0.76307	0.555000	0.69702	CCC	COL4A2	-	pfam_Collagen		0.607	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	C	NM_001846		111155804	+1	no_errors	ENST00000360467	ensembl	human	known	70_37	missense	SNP	1.000	T
COL4A2	1284	genome.wustl.edu	37	13	111160572	111160572	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:111160572T>G	ENST00000360467.5	+	47	5187				COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTCATGGTATGTGGTATTTG	0.582																																																	0													67.0	70.0	69.0					13																	111160572		2094	4240	6334	SO:0001627	intron_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4881+4T>G	13.37:g.111160572T>G			Q14052|Q548C3|Q5VZA9|Q66K23	RNA	SNP	-	NULL	ENST00000360467.5	37	NULL	CCDS41907.1	13																																																																																			COL4A2	-	-		0.582	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	T	NM_001846		111160572	+1	no_errors	ENST00000480609	ensembl	human	putative	70_37	rna	SNP	0.321	G
COL4A6	1288	genome.wustl.edu	37	X	107431200	107431200	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:107431200G>T	ENST00000372216.4	-	22	1748	c.1648C>A	c.(1648-1650)Ctc>Atc	p.L550I	COL4A6_ENST00000394872.2_Missense_Mutation_p.L550I|COL4A6_ENST00000538570.1_Missense_Mutation_p.L549I|COL4A6_ENST00000545689.1_Missense_Mutation_p.L549I|COL4A6_ENST00000334504.7_Missense_Mutation_p.L549I	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	550	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.L549I(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATTGTACTGAGAATTGGTTCC	0.517									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												2	Substitution - Missense(2)	large_intestine(2)											97.0	95.0	96.0					X																	107431200		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1648C>A	X.37:g.107431200G>T	ENSP00000361290:p.Leu550Ile		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L550I	ENST00000372216.4	37	c.1648	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	G	7.828	0.719181	0.15372	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	5.05	-2.21	0.06973	.	1.174900	0.06505	N	0.736934	T	0.79930	0.4531	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.10296	0.002;0.002;0.003;0.002	B;B;B;B	0.11329	0.003;0.003;0.006;0.003	T	0.64381	-0.6421	10	0.18276	T	0.48	.	0.9649	0.01403	0.3593:0.3108:0.1628:0.1672	.	549;549;550;549	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	I	550;549;550;549;549;549	ENSP00000361290:L550I;ENSP00000334733:L549I;ENSP00000378340:L550I;ENSP00000443707:L549I;ENSP00000445236:L549I	ENSP00000334733:L549I	L	-	1	0	COL4A6	107317856	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-1.182000	0.03082	-0.487000	0.06735	0.513000	0.50165	CTC	COL4A6	-	NULL		0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	G			107431200	-1	no_errors	ENST00000372216	ensembl	human	known	70_37	missense	SNP	0.000	T
COL6A3	1293	genome.wustl.edu	37	2	238285451	238285451	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:238285451G>T	ENST00000295550.4	-	7	3486	c.3034C>A	c.(3034-3036)Ctc>Atc	p.L1012I	COL6A3_ENST00000346358.4_Missense_Mutation_p.L812I|COL6A3_ENST00000392004.3_Missense_Mutation_p.L806I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L806I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L811I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L806I|COL6A3_ENST00000472056.1_Missense_Mutation_p.L405I|COL6A3_ENST00000392003.2_Missense_Mutation_p.L605I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1012	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATTTTAAGAGATTCACTATC	0.493																																																	0													225.0	227.0	227.0					2																	238285451		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3034C>A	2.37:g.238285451G>T	ENSP00000295550:p.Leu1012Ile		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.L1012I	ENST00000295550.4	37	c.3034	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420285	0.42918	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.55	4.64	0.57946	.	0.000000	0.47455	D	0.000235	T	0.51058	0.1652	M	0.64997	1.995	0.41471	D	0.988102	D;D;P;D;D;D	0.71674	0.983;0.998;0.892;0.989;0.998;0.983	P;D;P;D;D;P	0.70935	0.723;0.97;0.715;0.913;0.971;0.795	T	0.47995	-0.9073	10	0.28530	T	0.3	.	8.9081	0.35537	0.0782:0.1505:0.7713:0.0	.	812;405;605;806;806;1012	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	I	1012;811;806;405;806;812;806;605	ENSP00000295550:L1012I;ENSP00000315609:L811I;ENSP00000315873:L806I;ENSP00000418285:L405I;ENSP00000386844:L806I;ENSP00000295546:L812I;ENSP00000375861:L806I;ENSP00000375860:L605I	ENSP00000295550:L1012I	L	-	1	0	COL6A3	237950190	1.000000	0.71417	0.782000	0.31804	0.319000	0.28217	2.347000	0.44036	1.276000	0.44395	0.655000	0.94253	CTC	COL6A3	-	NULL		0.493	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	G	NM_004369		238285451	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	0.954	T
COL6A5	256076	genome.wustl.edu	37	3	130190558	130190558	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:130190558A>G	ENST00000265379.6	+	40	8101	c.7607A>G	c.(7606-7608)gAa>gGa	p.E2536G	COL6A5_ENST00000432398.2_Intron			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2536	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATAAAGACAGAAAATGGTGAT	0.368																																																	0																																										SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000265379.6:c.7607A>G	3.37:g.130190558A>G	ENSP00000265379:p.Glu2536Gly		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E2536G	ENST00000265379.6	37	c.7607		3	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504877	0.26949	.	.	ENSG00000172752	ENST00000265379;ENST00000373157;ENST00000512482	D;T;T	0.90504	-2.68;-1.11;-0.96	5.41	-5.86	0.02304	.	.	.	.	.	T	0.79106	0.4390	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.62699	-0.6799	8	0.24483	T	0.36	.	7.1221	0.25450	0.2626:0.2742:0.4632:0.0	.	2536	A8TX70	CO6A5_HUMAN	G	2536;479;371	ENSP00000265379:E2536G;ENSP00000362250:E479G;ENSP00000424968:E371G	ENSP00000265379:E2536G	E	+	2	0	COL6A5	131673248	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.005000	0.13129	-0.885000	0.03971	0.402000	0.26972	GAA	COL6A5	-	NULL		0.368	COL6A5-201	KNOWN	basic	protein_coding	COL6A5	HGNC	protein_coding		A	NM_153264		130190558	+1	no_errors	ENST00000265379	ensembl	human	known	70_37	missense	SNP	0.000	G
COL6A6	131873	genome.wustl.edu	37	3	130287239	130287239	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:130287239A>G	ENST00000358511.6	+	5	2223	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	COL6A6_ENST00000453409.2_Missense_Mutation_p.D731G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	731	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTCATCACGGATGGTGAAGCT	0.522																																																	0													93.0	96.0	95.0					3																	130287239		1962	4143	6105	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2192A>G	3.37:g.130287239A>G	ENSP00000351310:p.Asp731Gly		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D731G	ENST00000358511.6	37	c.2192	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	A	17.72	3.460269	0.63401	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.92099	-2.97;-2.97	5.51	5.51	0.81932	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000015	D	0.95928	0.8674	M	0.81341	2.54	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.95934	0.8941	10	0.51188	T	0.08	.	15.2765	0.73745	1.0:0.0:0.0:0.0	.	731	A6NMZ7	CO6A6_HUMAN	G	731	ENSP00000351310:D731G;ENSP00000399236:D731G	ENSP00000351310:D731G	D	+	2	0	COL6A6	131769929	1.000000	0.71417	0.204000	0.23530	0.407000	0.30961	5.828000	0.69307	2.088000	0.63022	0.533000	0.62120	GAT	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.522	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	A	NM_001102608		130287239	+1	no_errors	ENST00000358511	ensembl	human	known	70_37	missense	SNP	1.000	G
COMMD3	23412	genome.wustl.edu	37	10	22607675	22607675	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:22607675T>G	ENST00000376836.3	+	5	855				COMMD3-BMI1_ENST00000463409.2_Intron|BMI1_ENST00000376663.3_5'Flank|COMMD3-BMI1_ENST00000602390.1_Intron|COMMD3_ENST00000483684.1_Intron	NM_012071.3	NP_036203.1	Q9UBI1	COMD3_HUMAN	COMM domain containing 3											kidney(2)|lung(2)|ovary(1)	5						AGCGGGGGATTTAGGGAACTT	0.383																																																	0													147.0	158.0	154.0					10																	22607675		2203	4300	6503	SO:0001627	intron_variant	23412			AY542159	CCDS7137.1	10p12.2	2012-09-20	2004-02-13	2004-02-18	ENSG00000148444	ENSG00000148444			23332	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 8"""	C10orf8		11042152, 15799966	Standard	NM_012071		Approved	BUP		Q9UBI1	OTTHUMG00000017806	ENST00000376836.3:c.411+33T>G	10.37:g.22607675T>G			D3DRU7|Q5T8Y9	RNA	SNP	-	NULL	ENST00000376836.3	37	NULL	CCDS7137.1	10																																																																																			COMMD3	-	-		0.383	COMMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD3	HGNC	protein_coding	OTTHUMT00000047159.1	T	NM_012071		22607675	+1	no_errors	ENST00000463688	ensembl	human	known	70_37	rna	SNP	0.002	G
COQ6	51004	genome.wustl.edu	37	14	74422517	74422517	+	Missense_Mutation	SNP	G	G	A	rs377529207	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:74422517G>A	ENST00000334571.2	+	4	407	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	COQ6_ENST00000394026.4_Missense_Mutation_p.A98T|COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000554920.1_Missense_Mutation_p.A123T|COQ6_ENST00000238709.4_Missense_Mutation_p.A48T	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	123					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GGTGTGGGACGCCTGCTCAGA	0.428													G|||	3	0.000599042	0.0	0.0	5008	,	,		19232	0.0		0.001	False		,,,				2504	0.002																0								G	THR/ALA,THR/ALA	0,4406		0,0,2203	172.0	163.0	166.0		367,142	4.6	1.0	14		166	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COQ6	NM_182476.2,NM_182480.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	123/469,48/394	74422517	1,13005	2203	4300	6503	SO:0001583	missense	51004			AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.367G>A	14.37:g.74422517G>A	ENSP00000333946:p.Ala123Thr		B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases	p.A123T	ENST00000334571.2	37	c.367	CCDS9823.1	14	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795111	0.50208	0.0	1.16E-4	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000553462;ENST00000334571;ENST00000556300;ENST00000554153;ENST00000557584;ENST00000554920;ENST00000557205;ENST00000554320;ENST00000555392	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.51	4.6	0.57074	.	0.197339	0.53938	D	0.000055	T	0.51839	0.1698	L	0.58969	1.84	0.58432	D	0.999999	D;P;D;P;B;P;P;B	0.69078	0.976;0.842;0.997;0.855;0.079;0.924;0.868;0.281	P;P;P;B;B;P;P;B	0.53689	0.64;0.502;0.732;0.265;0.044;0.555;0.458;0.07	T	0.52003	-0.8633	10	0.37606	T	0.19	-5.8482	15.4206	0.75009	0.0:0.0:0.856:0.144	.	68;123;68;98;123;48;48;48	B7Z8E9;B7Z357;B7Z262;B7Z3K8;Q9Y2Z9;G3V3A1;G3XA86;Q86U30	.;.;.;.;COQ6_HUMAN;.;.;.	T	98;48;48;48;123;123;68;68;123;68;48;48	ENSP00000377594:A98T;ENSP00000238709:A48T;ENSP00000333946:A123T;ENSP00000451123:A48T	ENSP00000238709:A48T	A	+	1	0	COQ6	73492270	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	7.144000	0.77357	1.505000	0.48720	0.561000	0.74099	GCC	COQ6	-	tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases		0.428	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ6	HGNC	protein_coding	OTTHUMT00000412616.1	G			74422517	+1	no_errors	ENST00000334571	ensembl	human	known	70_37	missense	SNP	1.000	A
CORIN	10699	genome.wustl.edu	37	4	47625621	47625621	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:47625621T>G	ENST00000273857.4	-	19	2506	c.2507A>C	c.(2506-2508)aAg>aCg	p.K836T	CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000508498.1_Missense_Mutation_p.K697T|CORIN_ENST00000505909.1_Missense_Mutation_p.K799T|CORIN_ENST00000502252.1_Missense_Mutation_p.K769T	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	836	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAGAACCCACTTCTTGGCAAT	0.527																																																	0													103.0	99.0	100.0					4																	47625621		2203	4300	6503	SO:0001583	missense	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2507A>C	4.37:g.47625621T>G	ENSP00000273857:p.Lys836Thr		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K836T	ENST00000273857.4	37	c.2507	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273451	0.59649	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.14	2.72	0.32119	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.224651	0.37136	N	0.002228	T	0.81312	0.4796	N	0.11789	0.175	0.80722	D	1	P;B	0.48407	0.91;0.329	P;B	0.49140	0.601;0.288	T	0.78658	-0.2118	10	0.41790	T	0.15	.	8.2881	0.31941	0.0:0.2348:0.0:0.7652	.	769;836	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	T	836;697;769;799	ENSP00000273857:K836T;ENSP00000425597:K697T;ENSP00000424212:K769T;ENSP00000425401:K799T	ENSP00000273857:K836T	K	-	2	0	CORIN	47320378	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	1.863000	0.39459	0.901000	0.36495	-0.334000	0.08254	AAG	CORIN	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.527	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	T			47625621	-1	no_errors	ENST00000273857	ensembl	human	known	70_37	missense	SNP	0.998	G
CORIN	10699	genome.wustl.edu	37	4	47667068	47667068	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:47667068C>T	ENST00000273857.4	-	11	1569	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	CORIN_ENST00000508498.1_Missense_Mutation_p.E385K|CORIN_ENST00000505909.1_Missense_Mutation_p.E487K|CORIN_ENST00000504584.1_Missense_Mutation_p.E487K|CORIN_ENST00000502252.1_Missense_Mutation_p.E457K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	524	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGGATATGCTCGCCTGTATTC	0.423																																																	0													79.0	80.0	79.0					4																	47667068		2203	4300	6503	SO:0001583	missense	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1570G>A	4.37:g.47667068C>T	ENSP00000273857:p.Glu524Lys		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E524K	ENST00000273857.4	37	c.1570	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373989	0.42105	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.25	4.41	0.53225	Frizzled domain (5);	0.313155	0.31323	N	0.007846	T	0.48466	0.1501	N	0.04705	-0.18	0.09310	N	0.999997	B;B;P;B	0.38551	0.216;0.139;0.636;0.027	B;B;B;B	0.31495	0.025;0.028;0.131;0.032	T	0.44574	-0.9319	10	0.06757	T	0.87	.	16.0173	0.80450	0.0:0.254:0.746:0.0	.	487;487;457;524	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	K	524;385;457;487;487	ENSP00000273857:E524K;ENSP00000425597:E385K;ENSP00000424212:E457K;ENSP00000425401:E487K;ENSP00000423216:E487K	ENSP00000273857:E524K	E	-	1	0	CORIN	47361825	1.000000	0.71417	0.054000	0.19295	0.006000	0.05464	5.577000	0.67444	0.804000	0.34136	-0.780000	0.03373	GAG	CORIN	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom		0.423	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	C			47667068	-1	no_errors	ENST00000273857	ensembl	human	known	70_37	missense	SNP	0.896	T
CPLX4	339302	genome.wustl.edu	37	18	56985653	56985653	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:56985653C>A	ENST00000299721.3	-	1	228	c.42G>T	c.(40-42)aaG>aaT	p.K14N	CPLX4_ENST00000587244.1_Missense_Mutation_p.K14N	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	14					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.K14N(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				ATCCTAAATTCTTTACCTGGT	0.383																																																	1	Substitution - Missense(1)	breast(1)											131.0	122.0	125.0					18																	56985653		2203	4300	6503	SO:0001583	missense	339302			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.42G>T	18.37:g.56985653C>A	ENSP00000299721:p.Lys14Asn		F1T0L6	Missense_Mutation	SNP	pfam_Synaphin	p.K14N	ENST00000299721.3	37	c.42	CCDS11973.1	18	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219105	0.58560	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.36	4.49	0.54785	.	0.098210	0.64402	D	0.000002	T	0.60405	0.2266	L	0.56769	1.78	0.50171	D	0.999851	P	0.45348	0.856	P	0.48368	0.575	T	0.64575	-0.6375	9	0.87932	D	0	-14.719	11.0481	0.47870	0.0:0.8483:0.0:0.1517	.	14	Q7Z7G2	CPLX4_HUMAN	N	14	.	ENSP00000299721:K14N	K	-	3	2	CPLX4	55136633	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.511000	0.35801	1.395000	0.46643	0.655000	0.94253	AAG	CPLX4	-	pfam_Synaphin		0.383	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX4	HGNC	protein_coding	OTTHUMT00000256127.1	C	NM_181654		56985653	-1	no_errors	ENST00000299721	ensembl	human	known	70_37	missense	SNP	1.000	A
CPNE7	27132	genome.wustl.edu	37	16	89645291	89645291	+	Silent	SNP	C	C	T	rs527294284		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:89645291C>T	ENST00000268720.5	+	3	514	c.384C>T	c.(382-384)gtC>gtT	p.V128V	CPNE7_ENST00000319518.8_Intron	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	128					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TTCTGCAAGTCGTGATGAGAG	0.587													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15817	0.0		0.0	False		,,,				2504	0.0																0													107.0	93.0	98.0					16																	89645291		2198	4300	6498	SO:0001819	synonymous_variant	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.384C>T	16.37:g.89645291C>T				Silent	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.V128	ENST00000268720.5	37	c.384	CCDS10980.1	16																																																																																			CPNE7	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.587	CPNE7-002	KNOWN	basic|CCDS	protein_coding	CPNE7	HGNC	protein_coding	OTTHUMT00000269929.2	C			89645291	+1	no_errors	ENST00000268720	ensembl	human	known	70_37	silent	SNP	0.001	T
CPO	130749	genome.wustl.edu	37	2	207823079	207823079	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:207823079C>A	ENST00000272852.3	+	4	368	c.322C>A	c.(322-324)Cac>Aac	p.H108N		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	108						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTGTGGAATTCACGCCAGAGA	0.403																																																	0													217.0	205.0	209.0					2																	207823079		2203	4300	6503	SO:0001583	missense	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.322C>A	2.37:g.207823079C>A	ENSP00000272852:p.His108Asn		Q2M277|Q7RTW7	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	p.H108N	ENST00000272852.3	37	c.322	CCDS2372.1	2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869367	0.72065	.	.	ENSG00000144410	ENST00000272852	T	0.61627	0.09	4.68	3.79	0.43588	Peptidase M14, carboxypeptidase A (4);	0.000000	0.85682	D	0.000000	T	0.82204	0.4986	H	0.97131	3.945	0.44345	D	0.997236	D	0.89917	1.0	D	0.91635	0.999	D	0.86168	0.1598	10	0.87932	D	0	.	11.0535	0.47905	0.0:0.9069:0.0:0.0931	.	108	Q8IVL8	CBPO_HUMAN	N	108	ENSP00000272852:H108N	ENSP00000272852:H108N	H	+	1	0	CPO	207531324	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	5.259000	0.65485	1.149000	0.42402	0.561000	0.74099	CAC	CPO	-	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14		0.403	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPO	HGNC	protein_coding	OTTHUMT00000202040.2	C	NM_173077		207823079	+1	no_errors	ENST00000272852	ensembl	human	known	70_37	missense	SNP	1.000	A
CPQ	10404	genome.wustl.edu	37	8	97797327	97797327	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:97797327G>A	ENST00000220763.5	+	2	412	c.202G>A	c.(202-204)Gca>Aca	p.A68T		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	68					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										TGAGCGATTGGCACTTCTGGT	0.438																																																	0													122.0	113.0	116.0					8																	97797327		2203	4300	6503	SO:0001583	missense	10404			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.202G>A	8.37:g.97797327G>A	ENSP00000220763:p.Ala68Thr		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.A68T	ENST00000220763.5	37	c.202	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295086	0.60086	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	T;T	0.50001	0.83;0.76	5.28	4.35	0.52113	.	0.129596	0.51477	D	0.000083	T	0.45955	0.1368	L	0.51914	1.62	0.36709	D	0.880549	B;B	0.32051	0.354;0.142	B;B	0.39152	0.292;0.114	T	0.46638	-0.9177	10	0.16896	T	0.51	-11.8105	14.2835	0.66228	0.0:0.0:0.8193:0.1807	.	68;68	B5MDX4;Q9Y646	.;PGCP_HUMAN	T	68	ENSP00000220763:A68T;ENSP00000429146:A68T	ENSP00000220763:A68T	A	+	1	0	AC010859.1	97866503	1.000000	0.71417	0.999000	0.59377	0.800000	0.45204	6.028000	0.70889	1.061000	0.40601	0.563000	0.77884	GCA	CPQ	-	NULL		0.438	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2	G	NM_016134		97797327	+1	no_errors	ENST00000220763	ensembl	human	known	70_37	missense	SNP	1.000	A
CPS1	1373	genome.wustl.edu	37	2	211447406	211447406	+	Silent	SNP	G	G	A	rs150369462		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:211447406G>A	ENST00000233072.5	+	6	790	c.594G>A	c.(592-594)caG>caA	p.Q198Q	CPS1_ENST00000430249.2_Silent_p.Q204Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	198	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAAATAAACAGAATTTGATTG	0.328																																																	0								G	,	2,4404	4.2+/-10.8	0,2,2201	135.0	136.0	136.0		612,594	5.0	1.0	2	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CPS1	NM_001122633.2,NM_001875.4	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	204/1507,198/1501	211447406	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.594G>A	2.37:g.211447406G>A			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.Q204	ENST00000233072.5	37	c.612	CCDS2393.1	2																																																																																			CPS1	-	superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu		0.328	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	G			211447406	+1	no_errors	ENST00000430249	ensembl	human	known	70_37	silent	SNP	1.000	A
CPSF4	10898	genome.wustl.edu	37	7	99036754	99036754	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:99036754A>G	ENST00000292476.5	+	1	59	c.49A>G	c.(49-51)Atc>Gtc	p.I17V	ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Missense_Mutation_p.I17V|CPSF4_ENST00000436336.2_Missense_Mutation_p.I17V|PTCD1_ENST00000292478.4_5'Flank|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000441580.1_5'Flank			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	17					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGACTTGGAGATCGCGGTGGA	0.716																																																	0													20.0	25.0	24.0					7																	99036754		2201	4298	6499	SO:0001583	missense	10898				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.49A>G	7.37:g.99036754A>G	ENSP00000292476:p.Ile17Val		D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC	p.I17V	ENST00000292476.5	37	c.49	CCDS5664.1	7	.	.	.	.	.	.	.	.	.	.	A	6.954	0.545872	0.13312	.	.	ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476	T;T;T	0.21543	2.0;2.03;2.0	4.07	4.07	0.47477	.	0.213049	0.39834	N	0.001254	T	0.14657	0.0354	L	0.32530	0.975	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.07424	-1.0773	10	0.21540	T	0.41	-13.727	9.8819	0.41238	0.697:0.303:0.0:0.0	.	17;17;17	O95639-3;O95639;O95639-2	.;CPSF4_HUMAN;.	V	17	ENSP00000395311:I17V;ENSP00000396060:I17V;ENSP00000292476:I17V	ENSP00000292476:I17V	I	+	1	0	CPSF4	98874690	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	1.713000	0.37951	1.705000	0.51264	0.519000	0.50382	ATC	CPSF4	-	NULL		0.716	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPSF4	HGNC	protein_coding	OTTHUMT00000336254.1	A			99036754	+1	no_errors	ENST00000292476	ensembl	human	known	70_37	missense	SNP	1.000	G
CPXCR1	53336	genome.wustl.edu	37	X	88009171	88009171	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:88009171T>G	ENST00000276127.4	+	3	1015	c.756T>G	c.(754-756)ggT>ggG	p.G252G	CPXCR1_ENST00000373111.1_Silent_p.G252G	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	252							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATATAAAAGGTTTTGTGGATA	0.333																																																	0													31.0	29.0	30.0					X																	88009171		2202	4294	6496	SO:0001819	synonymous_variant	53336			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.756T>G	X.37:g.88009171T>G			B2R9F9|D3DTE7|Q96RS3	Silent	SNP	pfscan_Znf_C2H2	p.G252	ENST00000276127.4	37	c.756	CCDS14458.1	X																																																																																			CPXCR1	-	NULL		0.333	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXCR1	HGNC	protein_coding	OTTHUMT00000057418.1	T	NM_033048		88009171	+1	no_errors	ENST00000276127	ensembl	human	known	70_37	silent	SNP	0.057	G
CR1	1378	genome.wustl.edu	37	1	207780600	207780600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:207780600C>T	ENST00000367049.4	+	36	5815	c.5815C>T	c.(5815-5817)Cga>Tga	p.R1939*	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1489*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1489*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1489*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1489*|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1489	Sushi 30. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTTCGACTCATTGG	0.368																																																	0													280.0	253.0	261.0					1																	207780600		1886	4116	6002	SO:0001587	stop_gained	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5815C>T	1.37:g.207780600C>T	ENSP00000356016:p.Arg1939*		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R1939*	ENST00000367049.4	37	c.5815	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.673768	0.99236	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	.	.	.	3.17	0.196	0.15159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	3.2118	0.06685	0.2119:0.5771:0.0:0.2111	.	.	.	.	X	1489;1489;1489;1489;1039;1939	.	ENSP00000356016:R1939X	R	+	1	2	CR1	205847223	0.776000	0.28616	0.621000	0.29145	0.973000	0.67179	0.687000	0.25407	0.048000	0.15891	-0.181000	0.13052	CGA	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.368	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	C	NM_000573		207780600	+1	no_errors	ENST00000367049	ensembl	human	known	70_37	nonsense	SNP	0.771	T
CR1L	1379	genome.wustl.edu	37	1	207884022	207884022	+	Intron	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:207884022T>A	ENST00000508064.2	+	10	1474				CR1L_ENST00000530905.1_3'UTR	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						TAAATGAAGTTGTGGAGTTTA	0.483																																																	0																																										SO:0001627	intron_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+2414T>A	1.37:g.207884022T>A			Q32MC9|Q8NEU7	RNA	SNP	-	NULL	ENST00000508064.2	37	NULL	CCDS44310.1	1																																																																																			CR1L	-	-		0.483	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1L	HGNC	protein_coding	OTTHUMT00000390247.1	T	XM_114735		207884022	+1	no_errors	ENST00000530905	ensembl	human	known	70_37	rna	SNP	0.001	A
CREBBP	1387	genome.wustl.edu	37	16	3900884	3900884	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:3900884G>A	ENST00000262367.5	-	2	1021	c.212C>T	c.(211-213)tCg>tTg	p.S71L	CREBBP_ENST00000382070.3_Missense_Mutation_p.S71L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	71					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TAGAAGCTCCGACAGTTGTTT	0.522			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													73.0	70.0	71.0					16																	3900884		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.212C>T	16.37:g.3900884G>A	ENSP00000262367:p.Ser71Leu		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S71L	ENST00000262367.5	37	c.212	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382175	0.82792	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.87179	-2.01;-2.22	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	D	0.93403	0.7896	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.93234	0.6620	10	0.72032	D	0.01	-16.9043	20.2084	0.98285	0.0:0.0:1.0:0.0	.	139;71	Q4LE28;Q92793	.;CBP_HUMAN	L	71;139;71	ENSP00000262367:S71L;ENSP00000371502:S71L	ENSP00000262367:S71L	S	-	2	0	CREBBP	3840885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.229000	0.95273	2.774000	0.95407	0.650000	0.86243	TCG	CREBBP	-	NULL		0.522	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3900884	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	A
CRISP2	7180	genome.wustl.edu	37	6	49663612	49663612	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:49663612T>C	ENST00000339139.4	-	9	777	c.541A>G	c.(541-543)Acc>Gcc	p.T181A		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	181					single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGGTACGGGGTATTCTTTCTA	0.343																																																	0													95.0	89.0	91.0					6																	49663612		2203	4300	6503	SO:0001583	missense	7180			X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.541A>G	6.37:g.49663612T>C	ENSP00000339155:p.Thr181Ala		A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.T181A	ENST00000339139.4	37	c.541	CCDS4928.1	6	.	.	.	.	.	.	.	.	.	.	T	10.02	1.236592	0.22711	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.07800	3.16	4.15	4.15	0.48705	CAP domain (2);	0.961230	0.08689	N	0.908261	T	0.04998	0.0134	M	0.75777	2.31	0.09310	N	0.999999	B;B	0.28439	0.212;0.016	B;B	0.30316	0.114;0.013	T	0.42310	-0.9459	10	0.15499	T	0.54	.	11.7861	0.52043	0.0:0.0:0.0:1.0	.	216;181	Q7Z7B2;P16562	.;CRIS2_HUMAN	A	181;216	ENSP00000339155:T181A	ENSP00000211238:T216A	T	-	1	0	CRISP2	49771571	0.003000	0.15002	0.061000	0.19648	0.581000	0.36288	1.350000	0.34010	2.101000	0.63845	0.519000	0.50382	ACC	CRISP2	-	superfamily_CAP_domain		0.343	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISP2	HGNC	protein_coding	OTTHUMT00000040870.2	T	NM_003296		49663612	-1	no_errors	ENST00000339139	ensembl	human	known	70_37	missense	SNP	0.096	C
CROT	54677	genome.wustl.edu	37	7	87011272	87011272	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:87011272T>C	ENST00000331536.3	+	11	1210	c.1025T>C	c.(1024-1026)gTg>gCg	p.V342A	CROT_ENST00000419147.2_Missense_Mutation_p.V370A|CROT_ENST00000442291.1_Missense_Mutation_p.V342A	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	342					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AGTTATTATGTGGATGAGAAA	0.274																																																	0													106.0	104.0	104.0					7																	87011272		2203	4297	6500	SO:0001583	missense	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1025T>C	7.37:g.87011272T>C	ENSP00000331981:p.Val342Ala		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.V342A	ENST00000331536.3	37	c.1025	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369742	0.42003	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.90620	-2.7;-2.7;-2.7	5.35	5.35	0.76521	.	0.255793	0.37761	N	0.001950	D	0.87974	0.6313	L	0.54863	1.705	0.48511	D	0.99966	B;B	0.20368	0.044;0.024	B;B	0.26416	0.026;0.069	D	0.84840	0.0807	10	0.51188	T	0.08	-13.2636	10.3923	0.44179	0.0:0.0834:0.0:0.9166	.	370;342	E7EQF2;Q9UKG9	.;OCTC_HUMAN	A	370;342;342	ENSP00000413575:V370A;ENSP00000331981:V342A;ENSP00000411983:V342A	ENSP00000331981:V342A	V	+	2	0	CROT	86849208	1.000000	0.71417	0.655000	0.29622	0.978000	0.69477	5.723000	0.68492	2.159000	0.67721	0.383000	0.25322	GTG	CROT	-	pfam_Carn_acyl_trans		0.274	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	T	NM_021151		87011272	+1	no_errors	ENST00000331536	ensembl	human	known	70_37	missense	SNP	0.995	C
CRYBG3	131544	genome.wustl.edu	37	3	97596184	97596184	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:97596184T>C	ENST00000182096.4	+	1	366	c.302T>C	c.(301-303)gTc>gCc	p.V101A		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2049							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ACTGACCTTGTCCATCACTTT	0.408																																																	0													62.0	61.0	62.0					3																	97596184		1929	4130	6059	SO:0001583	missense	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.302T>C	3.37:g.97596184T>C	ENSP00000182096:p.Val101Ala		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.V101A	ENST00000182096.4	37	c.302		3	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261919	0.39995	.	.	ENSG00000080200	ENST00000182096	T	0.75477	-0.94	5.84	4.62	0.57501	.	0.564438	0.16477	N	0.212727	T	0.59810	0.2221	L	0.27053	0.805	0.46298	D	0.998975	B	0.20887	0.049	B	0.19148	0.024	T	0.60677	-0.7216	10	0.72032	D	0.01	.	6.7145	0.23296	0.1361:0.0736:0.0:0.7903	.	101	Q68DQ2	CRBG3_HUMAN	A	101	ENSP00000182096:V101A	ENSP00000182096:V101A	V	+	2	0	CRYBG3	99078874	0.001000	0.12720	0.962000	0.40283	0.993000	0.82548	0.736000	0.26130	2.242000	0.73789	0.528000	0.53228	GTC	CRYBG3	-	NULL		0.408	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	T	NM_153605		97596184	+1	no_errors	ENST00000182096	ensembl	human	known	70_37	missense	SNP	0.697	C
CSF3R	1441	genome.wustl.edu	37	1	36937198	36937198	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:36937198G>T	ENST00000373106.1	-	10	1668	c.1121C>A	c.(1120-1122)tCt>tAt	p.S374Y	CSF3R_ENST00000373103.1_Missense_Mutation_p.S374Y|CSF3R_ENST00000338937.5_Missense_Mutation_p.S374Y|CSF3R_ENST00000373104.1_Missense_Mutation_p.S374Y|CSF3R_ENST00000331941.5_Missense_Mutation_p.S374Y|CSF3R_ENST00000418048.2_Missense_Mutation_p.S374Y|CSF3R_ENST00000440588.2_Missense_Mutation_p.S374Y|CSF3R_ENST00000361632.4_Missense_Mutation_p.S374Y|CSF3R_ENST00000487540.2_5'UTR	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	374	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGTCTCCAAGAAACCACATA	0.602																																																	0													96.0	99.0	98.0					1																	36937198		2203	4300	6503	SO:0001583	missense	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1121C>A	1.37:g.36937198G>T	ENSP00000362198:p.Ser374Tyr			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S374Y	ENST00000373106.1	37	c.1121	CCDS413.1	1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274582	0.59649	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.05	3.92	0.45320	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.035390	0.07590	N	0.921808	T	0.30823	0.0777	M	0.68952	2.095	0.35300	D	0.78293	D;D;D;D	0.64830	0.988;0.993;0.976;0.994	P;P;P;P	0.61132	0.686;0.833;0.686;0.884	T	0.33777	-0.9855	10	0.02654	T	1	-27.2197	9.2919	0.37791	0.1168:0.0:0.8832:0.0	.	374;374;374;374	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	Y	374	ENSP00000362198:S374Y;ENSP00000362196:S374Y;ENSP00000362195:S374Y;ENSP00000355406:S374Y;ENSP00000332180:S374Y;ENSP00000401588:S374Y;ENSP00000345013:S374Y;ENSP00000397568:S374Y	ENSP00000332180:S374Y	S	-	2	0	CSF3R	36709785	1.000000	0.71417	0.990000	0.47175	0.909000	0.53808	2.750000	0.47500	2.332000	0.79248	0.561000	0.74099	TCT	CSF3R	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	G	NM_156039		36937198	-1	no_errors	ENST00000373103	ensembl	human	known	70_37	missense	SNP	0.807	T
CSH1	1442	genome.wustl.edu	37	17	61972703	61972703	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:61972703G>A	ENST00000316193.8	-	5	598				CSH1_ENST00000329882.8_Missense_Mutation_p.R196C|CSH1_ENST00000453363.3_Intron	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TTCACCAGGCGAAATGAAGAA	0.537									Russell-Silver syndrome																																								0													80.0	86.0	84.0					17																	61972703		2191	4300	6491	SO:0001627	intron_variant	1442	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.457-124C>T	17.37:g.61972703G>A			P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R196C	ENST00000316193.8	37	c.586	CCDS11649.1	17	.	.	.	.	.	.	.	.	.	.	g	8.597	0.885909	0.17540	.	.	ENSG00000136488	ENST00000329882	D	0.89123	-2.47	2.56	-1.3	0.09259	.	5.718800	0.01041	N	0.004319	T	0.81103	0.4753	.	.	.	0.09310	N	1	B	0.20887	0.049	B	0.08055	0.003	T	0.66212	-0.5980	9	0.87932	D	0	.	2.0066	0.03478	0.3558:0.0:0.3839:0.2603	.	196	A6NFB4	.	C	196	ENSP00000333268:R196C	ENSP00000333268:R196C	R	-	1	0	CSH1	59326435	0.003000	0.15002	0.001000	0.08648	0.020000	0.10135	0.249000	0.18216	-0.015000	0.14150	0.313000	0.20887	CGC	CSH1	-	NULL		0.537	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH1	HGNC	protein_coding	OTTHUMT00000416040.1	G	NM_001317		61972703	-1	no_errors	ENST00000329882	ensembl	human	putative	70_37	missense	SNP	0.003	A
CSMD1	64478	genome.wustl.edu	37	8	3000164	3000164	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:3000164C>T	ENST00000520002.1	-	42	6622	c.6067G>A	c.(6067-6069)Gaa>Aaa	p.E2023K	CSMD1_ENST00000400186.3_Missense_Mutation_p.E2023K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E2023K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2022K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2023K|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2022K|CSMD1_ENST00000539096.1_Missense_Mutation_p.E2022K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2023	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGATTAGCTTCGGTAGAAAAA	0.398																																																	0													130.0	132.0	131.0					8																	3000164		1861	4088	5949	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6067G>A	8.37:g.3000164C>T	ENSP00000430733:p.Glu2023Lys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E2023K	ENST00000520002.1	37	c.6067		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.428846|4.428846	0.83667|0.83667	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.58652|.	0.32;0.32;0.32;0.32;1.16|.	5.24|5.24	5.24|5.24	0.73138|0.73138	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90359|0.90359	0.6983|0.6983	H|H	0.97587|0.97587	4.035|4.035	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.994;1.0;0.997|.	D|D	0.93585|0.93585	0.6916|0.6916	10|5	0.41790|.	T|.	0.15|.	.|.	19.2056|19.2056	0.93729|0.93729	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2023;2023;2022|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	K|Q	2023;2023;1884;2022;2022;2022|1502	ENSP00000383047:E2023K;ENSP00000430733:E2023K;ENSP00000441462:E2022K;ENSP00000446243:E2022K;ENSP00000441675:E2022K|.	ENSP00000320445:E1884K|.	E|R	-|-	1|2	0|0	CSMD1|CSMD1	2987571|2987571	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.294000|0.294000	0.27393|0.27393	7.600000|7.600000	0.82769|0.82769	2.605000|2.605000	0.88082|0.88082	0.591000|0.591000	0.81541|0.81541	GAA|CGA	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.398	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3000164	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	T
CSMD1	64478	genome.wustl.edu	37	8	3611469	3611469	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:3611469A>C	ENST00000520002.1	-	6	1469	c.914T>G	c.(913-915)tTt>tGt	p.F305C	CSMD1_ENST00000400186.3_Missense_Mutation_p.F305C|CSMD1_ENST00000602723.1_Missense_Mutation_p.F305C|CSMD1_ENST00000537824.1_Missense_Mutation_p.F305C|CSMD1_ENST00000602557.1_Missense_Mutation_p.F305C|CSMD1_ENST00000542608.1_Missense_Mutation_p.F305C|CSMD1_ENST00000539096.1_Missense_Mutation_p.F305C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	305	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGAGCGTTAAATCCTTTGCG	0.413																																																	0													101.0	96.0	98.0					8																	3611469		1845	4084	5929	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.914T>G	8.37:g.3611469A>C	ENSP00000430733:p.Phe305Cys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.F305C	ENST00000520002.1	37	c.914		8	.	.	.	.	.	.	.	.	.	.	A	15.90	2.969161	0.53614	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	6.08	6.08	0.98989	.	.	.	.	.	D	0.89856	0.6836	H	0.99090	4.425	0.44871	D	0.997883	D	0.89917	1.0	D	0.91635	0.999	D	0.93795	0.7096	9	0.66056	D	0.02	.	16.3246	0.82970	1.0:0.0:0.0:0.0	.	305	E5RIG2	.	C	305;305;167;305;305;305	ENSP00000383047:F305C;ENSP00000430733:F305C;ENSP00000441462:F305C;ENSP00000446243:F305C;ENSP00000441675:F305C	ENSP00000320445:F167C	F	-	2	0	CSMD1	3598877	1.000000	0.71417	0.278000	0.24718	0.131000	0.20780	8.979000	0.93455	2.333000	0.79357	0.482000	0.46254	TTT	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	A	NM_033225		3611469	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	C
CSMD1	64478	genome.wustl.edu	37	8	3611473	3611473	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:3611473C>A	ENST00000520002.1	-	6	1465	c.910G>T	c.(910-912)Gga>Tga	p.G304*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G304*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G304*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G304*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G304*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G304*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.G304*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	304	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G304*(1)|p.G32*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCGTTAAATCCTTTGCGTCGG	0.413																																																	2	Substitution - Nonsense(2)	large_intestine(2)											103.0	98.0	100.0					8																	3611473		1847	4087	5934	SO:0001587	stop_gained	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.910G>T	8.37:g.3611473C>A	ENSP00000430733:p.Gly304*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G304*	ENST00000520002.1	37	c.910		8	.	.	.	.	.	.	.	.	.	.	C	39	7.420572	0.98272	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	.	.	.	X	304;304;166;304;304;304	.	ENSP00000320445:G166X	G	-	1	0	CSMD1	3598881	1.000000	0.71417	0.944000	0.38274	0.173000	0.22820	7.524000	0.81866	2.894000	0.99253	0.591000	0.81541	GGA	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3611473	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CSMD1	64478	genome.wustl.edu	37	8	4494910	4494910	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:4494910A>C	ENST00000520002.1	-	2	811	c.256T>G	c.(256-258)Tta>Gta	p.L86V	CSMD1_ENST00000400186.3_Missense_Mutation_p.L86V|CSMD1_ENST00000602723.1_Missense_Mutation_p.L86V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L86V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L86V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L86V|CSMD1_ENST00000539096.1_Missense_Mutation_p.L86V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	86	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAAACTGATAAAATATCAAAA	0.388																																																	0													119.0	120.0	120.0					8																	4494910		1887	4126	6013	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.256T>G	8.37:g.4494910A>C	ENSP00000430733:p.Leu86Val		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L86V	ENST00000520002.1	37	c.256		8	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132967	0.37630	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.18	0.148	0.14843	.	.	.	.	.	T	0.22513	0.0543	N	0.17379	0.485	0.24484	N	0.994339	B	0.11235	0.004	B	0.19666	0.026	T	0.25984	-1.0116	9	0.87932	D	0	.	8.362	0.32363	0.6785:0.0:0.3215:0.0	.	86	E5RIG2	.	V	86	ENSP00000383047:L86V;ENSP00000430733:L86V;ENSP00000441462:L86V;ENSP00000446243:L86V;ENSP00000441675:L86V	ENSP00000383047:L86V	L	-	1	2	CSMD1	4482318	0.917000	0.31117	0.215000	0.23724	0.891000	0.51852	0.940000	0.28992	-0.199000	0.10317	0.477000	0.44152	TTA	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.388	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	A	NM_033225		4494910	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.998	C
CSMD3	114788	genome.wustl.edu	37	8	113662424	113662424	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:113662424G>T	ENST00000297405.5	-	19	3403	c.3159C>A	c.(3157-3159)aaC>aaA	p.N1053K	CSMD3_ENST00000343508.3_Missense_Mutation_p.N1013K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N1053K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N949K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1053	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCACCAGTGGTTTTTTTCGC	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													112.0	111.0	111.0					8																	113662424		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3159C>A	8.37:g.113662424G>T	ENSP00000297405:p.Asn1053Lys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.N1053K	ENST00000297405.5	37	c.3159	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795612	0.50208	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.74	2.0	0.26442	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	M	0.67953	2.075	0.29091	N	0.882093	P;P;P	0.48911	0.917;0.881;0.725	P;P;P	0.48921	0.557;0.595;0.557	T	0.60772	-0.7197	10	0.32370	T	0.25	.	8.5311	0.33335	0.4531:0.0:0.5469:0.0	.	949;1053;1013	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	1013;1053;393;949;1053	ENSP00000345799:N1013K;ENSP00000297405:N1053K;ENSP00000341558:N393K;ENSP00000412263:N949K;ENSP00000343124:N1053K	ENSP00000297405:N1053K	N	-	3	2	CSMD3	113731600	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.328000	0.43867	0.370000	0.24538	0.561000	0.74099	AAC	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113662424	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	T
CSPG4	1464	genome.wustl.edu	37	15	75969500	75969500	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:75969500G>A	ENST00000308508.5	-	10	5452	c.5360C>T	c.(5359-5361)gCc>gTc	p.A1787V	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1787	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCGCCGTGGGCATACACTAG	0.692																																																	0													8.0	10.0	10.0					15																	75969500		2175	4280	6455	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5360C>T	15.37:g.75969500G>A	ENSP00000312506:p.Ala1787Val		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.A1787V	ENST00000308508.5	37	c.5360	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	G	4.644	0.119795	0.08881	.	.	ENSG00000173546	ENST00000308508	T	0.19105	2.17	5.39	4.27	0.50696	.	0.358204	0.26780	N	0.022535	T	0.17746	0.0426	L	0.39633	1.23	0.34769	D	0.733551	B	0.14438	0.01	B	0.09377	0.004	T	0.11591	-1.0581	10	0.23302	T	0.38	.	14.0736	0.64874	0.0858:0.0:0.9142:0.0	.	1787	Q6UVK1	CSPG4_HUMAN	V	1787	ENSP00000312506:A1787V	ENSP00000312506:A1787V	A	-	2	0	CSPG4	73756555	0.263000	0.24083	0.975000	0.42487	0.051000	0.14879	1.198000	0.32223	2.517000	0.84864	0.561000	0.74099	GCC	CSPG4	-	NULL		0.692	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	G	NM_001897		75969500	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	missense	SNP	0.992	A
CSPG4	1464	genome.wustl.edu	37	15	75982483	75982483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:75982483G>T	ENST00000308508.5	-	3	1015	c.923C>A	c.(922-924)tCg>tAg	p.S308*		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	308	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCCTCGGTTCGAAGTATGCGT	0.622																																																	0													37.0	28.0	31.0					15																	75982483		2195	4290	6485	SO:0001587	stop_gained	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.923C>A	15.37:g.75982483G>T	ENSP00000312506:p.Ser308*		D3DW77|Q92675	Nonsense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.S308*	ENST00000308508.5	37	c.923	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	18.03	3.533464	0.64972	.	.	ENSG00000173546	ENST00000308508	.	.	.	5.26	4.34	0.51931	.	0.084427	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	10.4232	0.44363	0.0924:0.0:0.9076:0.0	.	.	.	.	X	308	.	ENSP00000312506:S308X	S	-	2	0	CSPG4	73769538	1.000000	0.71417	0.994000	0.49952	0.041000	0.13682	3.501000	0.53325	1.191000	0.43056	0.555000	0.69702	TCG	CSPG4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.622	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	G	NM_001897		75982483	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	nonsense	SNP	0.976	T
CSPP1	79848	genome.wustl.edu	37	8	68007717	68007717	+	Missense_Mutation	SNP	G	G	A	rs201451280		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:68007717G>A	ENST00000262210.5	+	6	731	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	269					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.E234K(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGATGAAATCGAATTAAGGAA	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)						G	LYS/GLU	3,3643		0,3,1820	94.0	85.0	88.0		700	5.9	1.0	8		88	1,8163		0,1,4081	yes	missense	CSPP1	NM_024790.6	56	0,4,5901	AA,AG,GG		0.0122,0.0823,0.0339	probably-damaging	234/1222	68007717	4,11806	1823	4082	5905	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.700G>A	8.37:g.68007717G>A	ENSP00000262210:p.Glu234Lys		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	NULL	p.E234K	ENST00000262210.5	37	c.700	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287331	0.80803	8.23E-4	1.22E-4	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.75938	-0.98	5.95	5.95	0.96441	.	0.249218	0.18598	U	0.136540	D	0.84844	0.5562	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.927;0.992;0.992	D	0.83615	0.0136	10	0.48119	T	0.1	-16.5399	15.8179	0.78618	0.0:0.1352:0.8648:0.0	.	234;269;269	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	K	234;269	ENSP00000262210:E234K	ENSP00000262210:E234K	E	+	1	0	CSPP1	68170271	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.639000	0.61361	2.821000	0.97095	0.650000	0.86243	GAA	CSPP1	-	NULL		0.383	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	G	NM_024790		68007717	+1	no_errors	ENST00000262210	ensembl	human	known	70_37	missense	SNP	1.000	A
CSRP2BP	57325	genome.wustl.edu	37	20	18123370	18123370	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:18123370G>A	ENST00000435364.3	+	1	407	c.66G>A	c.(64-66)tcG>tcA	p.S22S	PET117_ENST00000432901.3_3'UTR|CSRP2BP_ENST00000377681.3_Silent_p.S22S|CSRP2BP_ENST00000489634.2_5'Flank	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	22					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CGAGAACATCGACCTCAGAAG	0.542																																																	0													141.0	104.0	116.0					20																	18123370		2203	4300	6503	SO:0001819	synonymous_variant	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.66G>A	20.37:g.18123370G>A			A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S22	ENST00000435364.3	37	c.66	CCDS13133.1	20																																																																																			CSRP2BP	-	NULL		0.542	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	G	NM_020536		18123370	+1	no_errors	ENST00000278816	ensembl	human	known	70_37	silent	SNP	0.098	A
CTAGE1	64693	genome.wustl.edu	37	18	19996268	19996268	+	5'Flank	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:19996268A>G	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.S503P			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGATAGAGAGAAGCTCTCGTT	0.517																																																	0													109.0	110.0	110.0					18																	19996268		2203	4300	6503	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996268A>G	Exception_encountered		B0YIZ3	Missense_Mutation	SNP	NULL	p.S503P	ENST00000525417.1	37	c.1507		18	.	.	.	.	.	.	.	.	.	.	A	6.591	0.477375	0.12521	.	.	ENSG00000212710	ENST00000391403	T	0.43688	0.94	0.779	0.779	0.18550	.	.	.	.	.	T	0.17831	0.0428	N	0.08118	0	0.09310	N	1	B	0.23316	0.083	B	0.17098	0.017	T	0.21827	-1.0234	8	.	.	.	.	3.8465	0.08937	1.0:0.0:0.0:0.0	.	503	Q96RT6	CTGE2_HUMAN	P	503	ENSP00000375220:S503P	.	S	-	1	0	CTAGE1	18250266	1.000000	0.71417	0.005000	0.12908	0.006000	0.05464	3.541000	0.53618	0.582000	0.29556	0.392000	0.25879	TCT	CTAGE1	-	NULL		0.517	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	A	NM_022663, NM_172241		19996268	-1	no_errors	ENST00000391403	ensembl	human	known	70_37	missense	SNP	0.007	G
CTAGE5	4253	genome.wustl.edu	37	14	39777662	39777662	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:39777662A>C	ENST00000280083.3	+	13	1378	c.1064A>C	c.(1063-1065)aAa>aCa	p.K355T	CTAGE5_ENST00000396158.2_Missense_Mutation_p.K360T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.K355T|CTAGE5_ENST00000341502.5_Missense_Mutation_p.K355T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.K280T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.K326T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.K275T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.K326T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.K326T|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.K890T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.K343T			O15320	CTGE5_HUMAN	CTAGE family, member 5	355					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GAGCATATTAAAAATCTTCAG	0.249																																																	0													19.0	21.0	20.0					14																	39777662		2092	4147	6239	SO:0001583	missense	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1064A>C	14.37:g.39777662A>C	ENSP00000280083:p.Lys355Thr		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	NULL	p.K360T	ENST00000280083.3	37	c.1079	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	A	15.99	2.996280	0.54147	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.79247	2.29;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.4	4.26	0.50523	.	.	.	.	.	D	0.83326	0.5230	M	0.73217	2.22	0.34110	D	0.662929	D;P;P;P;P;P	0.56287	0.975;0.921;0.64;0.921;0.917;0.921	P;P;P;P;P;P	0.58928	0.848;0.735;0.627;0.735;0.839;0.735	D	0.86734	0.1950	8	.	.	.	.	9.5652	0.39394	0.9196:0.0:0.0804:0.0	.	317;360;355;355;326;343	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	T	890;343;275;317;326;355;360;355;280;355;326	ENSP00000452252:K890T;ENSP00000343897:K343T;ENSP00000450869:K275T;ENSP00000379468:K326T;ENSP00000339286:K355T;ENSP00000379462:K360T;ENSP00000280083:K355T;ENSP00000452562:K280T;ENSP00000343912:K355T;ENSP00000450449:K326T	.	K	+	2	0	CTAGE5;RP11-407N17.3	38847413	1.000000	0.71417	0.668000	0.29813	0.714000	0.41099	3.592000	0.53993	0.906000	0.36621	-0.361000	0.07541	AAA	CTAGE5	-	NULL		0.249	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	A	NM_005930		39777662	+1	no_errors	ENST00000396158	ensembl	human	known	70_37	missense	SNP	0.709	C
CTAGE9	643854	genome.wustl.edu	37	6	132031684	132031684	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:132031684A>C	ENST00000314099.8	-	1	522	c.474T>G	c.(472-474)tcT>tcG	p.S158S	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	158						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GAGAATGTTTAGATTTCTCTT	0.378																																																	0													1.0	1.0	1.0					6																	132031684		45	330	375	SO:0001819	synonymous_variant	643854				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.474T>G	6.37:g.132031684A>C				Silent	SNP	NULL	p.S158	ENST00000314099.8	37	c.474	CCDS47475.1	6																																																																																			CTAGE9	-	NULL		0.378	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	A	NM_001145659		132031684	-1	no_errors	ENST00000314099	ensembl	human	known	70_37	silent	SNP	0.000	C
CTCF	10664	genome.wustl.edu	37	16	67670646	67670646	+	Nonsense_Mutation	SNP	G	G	T	rs35257000	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67670646G>T	ENST00000264010.4	+	11	2335	c.1891G>T	c.(1891-1893)Gaa>Taa	p.E631*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.E303*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	631					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCTGCCGTAGAAATTGAACC	0.567																																					Colon(175;1200 1966 6945 23069 27405)												0													96.0	101.0	99.0					16																	67670646		2198	4300	6498	SO:0001587	stop_gained	10664			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1891G>T	16.37:g.67670646G>T	ENSP00000264010:p.Glu631*		B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E631*	ENST00000264010.4	37	c.1891	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	G	39	7.831395	0.98513	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-4.0223	20.3495	0.98807	0.0:0.0:1.0:0.0	.	.	.	.	X	631;303	.	ENSP00000264010:E631X	E	+	1	0	CTCF	66228147	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.732000	0.62029	2.814000	0.96858	0.591000	0.81541	GAA	CTCF	-	NULL		0.567	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	G	NM_006565		67670646	+1	no_errors	ENST00000264010	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CTDP1	9150	genome.wustl.edu	37	18	77513768	77513768	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:77513768C>T	ENST00000299543.7	+	13	3011	c.2864C>T	c.(2863-2865)gCg>gTg	p.A955V	CTDP1_ENST00000075430.7_3'UTR	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	955					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCGCTGGAGGCGGAGCTCAAC	0.672																																																	0													33.0	33.0	33.0					18																	77513768		2202	4299	6501	SO:0001583	missense	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2864C>T	18.37:g.77513768C>T	ENSP00000299543:p.Ala955Val		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.A955V	ENST00000299543.7	37	c.2864	CCDS12017.1	18	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831711	0.71258	.	.	ENSG00000060069	ENST00000299543	T	0.58797	0.31	5.48	5.48	0.80851	FCP1-like phosphatase, C-terminal (1);	0.119056	0.53938	D	0.000041	T	0.73606	0.3608	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.73519	-0.3957	10	0.49607	T	0.09	-35.9671	19.3406	0.94339	0.0:1.0:0.0:0.0	.	955	Q9Y5B0	CTDP1_HUMAN	V	955	ENSP00000299543:A955V	ENSP00000299543:A955V	A	+	2	0	CTDP1	75614756	0.997000	0.39634	0.975000	0.42487	0.126000	0.20510	3.660000	0.54496	2.564000	0.86499	0.655000	0.94253	GCG	CTDP1	-	pfam_FCP1_C		0.672	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	C	NM_004715		77513768	+1	no_errors	ENST00000299543	ensembl	human	known	70_37	missense	SNP	0.998	T
CTNNB1	1499	genome.wustl.edu	37	3	41266098	41266098	+	Missense_Mutation	SNP	A	A	G	rs121913396|rs121913416		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:41266098A>G	ENST00000349496.5	+	3	375	c.95A>G	c.(94-96)gAc>gGc	p.D32G	CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32G|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25G|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32G|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32G	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		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)	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	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)		TCTTACCTGGACTCTGGAATC	0.483	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	260	Deletion - In frame(120)|Substitution - Missense(114)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	liver(154)|large_intestine(24)|pancreas(19)|central_nervous_system(16)|stomach(14)|endometrium(7)|skin(7)|ovary(4)|prostate(3)|pituitary(3)|small_intestine(2)|NS(2)|adrenal_gland(1)|soft_tissue(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)											92.0	77.0	82.0					3																	41266098		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.95A>G	3.37:g.41266098A>G	ENSP00000344456:p.Asp32Gly		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.D32G	ENST00000349496.5	37	c.95	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308122	0.81247	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74137	-0.3762	10	0.87932	D	0	0.3843	16.0676	0.80897	1.0:0.0:0.0:0.0	.	32	P35222	CTNB1_HUMAN	G	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25G;ENSP00000385604:D32G;ENSP00000412219:D32G;ENSP00000379486:D32G;ENSP00000344456:D32G;ENSP00000411226:D25G;ENSP00000379488:D32G;ENSP00000409302:D32G;ENSP00000401599:D32G	ENSP00000344456:D32G	D	+	2	0	CTNNB1	41241102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	GAC	CTNNB1	-	NULL		0.483	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	A	NM_001098210		41266098	+1	no_errors	ENST00000349496	ensembl	human	known	70_37	missense	SNP	1.000	G
CTNNBL1	56259	genome.wustl.edu	37	20	36470726	36470726	+	Intron	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:36470726A>G	ENST00000361383.6	+	13	1428				CTNNBL1_ENST00000373469.1_Intron|CTNNBL1_ENST00000405275.2_Intron|CTNNBL1_ENST00000373473.1_Intron|CTNNBL1_ENST00000473857.1_Intron	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1						apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAAGCCTGTGAAATCTCTCTT	0.473																																					Ovarian(184;582 2038 3273 4106 42608)												0													118.0	98.0	105.0					20																	36470726		2203	4300	6503	SO:0001627	intron_variant	56259			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1312-15A>G	20.37:g.36470726A>G			B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	RNA	SNP	-	NULL	ENST00000361383.6	37	NULL	CCDS13298.1	20																																																																																			CTNNBL1	-	-		0.473	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	A	NM_030877		36470726	+1	no_errors	ENST00000472237	ensembl	human	putative	70_37	rna	SNP	0.046	G
CTNND2	1501	genome.wustl.edu	37	5	10972957	10972957	+	3'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:10972957A>C	ENST00000304623.8	-	0	4475				CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_3'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACATCTTTCAAAAGTTTGAAA	0.308																																																	0																																										SO:0001624	3_prime_UTR_variant	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.*608T>G	5.37:g.10972957A>C			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	RNA	SNP	-	NULL	ENST00000304623.8	37	NULL	CCDS3881.1	5																																																																																			CTNND2	-	-		0.308	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	A	NM_001332		10972957	-1	no_errors	ENST00000495388	ensembl	human	known	70_37	rna	SNP	1.000	C
CTR9	9646	genome.wustl.edu	37	11	10795559	10795559	+	Splice_Site	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:10795559C>T	ENST00000361367.2	+	22	3154	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	910	Lys-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGATTTTAGCGTTCTAAGAA	0.398																																																	0													151.0	146.0	147.0					11																	10795559		2201	4294	6495	SO:0001630	splice_region_variant	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2728-1C>T	11.37:g.10795559C>T			D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R910C	ENST00000361367.2	37	c.2728	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652869	0.88056	.	.	ENSG00000198730	ENST00000361367	T	0.52295	0.67	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.60611	-0.7229	9	.	.	.	-12.4696	15.1109	0.72355	0.1414:0.8586:0.0:0.0	.	910	Q6PD62	CTR9_HUMAN	C	910	ENSP00000355013:R910C	.	R	+	1	0	CTR9	10752135	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.864000	0.62990	2.826000	0.97356	0.655000	0.94253	CGT	CTR9	-	NULL		0.398	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	C	NM_014633	Missense_Mutation	10795559	+1	no_errors	ENST00000361367	ensembl	human	known	70_37	missense	SNP	1.000	T
CTXN2	399697	genome.wustl.edu	37	15	48493683	48493683	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:48493683T>G	ENST00000417307.2	+	2	558	c.186T>G	c.(184-186)tcT>tcG	p.S62S	RP11-605F22.1_ENST00000559875.1_RNA|CTXN2_ENST00000541248.1_Silent_p.S62S	NM_001145668.1	NP_001139140.1	P0C2S0	CTXN2_HUMAN	cortexin 2	62						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2						TGCCTTCCTCTACATGGGAAG	0.418																																																	0													265.0	217.0	231.0					15																	48493683		687	1588	2275	SO:0001819	synonymous_variant	399697			BK004876	CCDS45254.1	15q21.1	2013-09-20			ENSG00000233932	ENSG00000233932			31109	protein-coding gene	gene with protein product							Standard	NM_001145668		Approved		uc001zwm.1	P0C2S0	OTTHUMG00000172152	ENST00000417307.2:c.186T>G	15.37:g.48493683T>G				Silent	SNP	pfam_Cortexin	p.S62	ENST00000417307.2	37	c.186	CCDS45254.1	15																																																																																			CTXN2	-	pfam_Cortexin		0.418	CTXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTXN2	HGNC	protein_coding	OTTHUMT00000417125.1	T			48493683	+1	no_errors	ENST00000417307	ensembl	human	known	70_37	silent	SNP	1.000	G
CUBN	8029	genome.wustl.edu	37	10	16957842	16957842	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:16957842C>A	ENST00000377833.4	-	46	7253	c.7188G>T	c.(7186-7188)gaG>gaT	p.E2396D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2396	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.E2396D(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCCCAGATCTCCACGAAGT	0.413																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											72.0	72.0	72.0					10																	16957842		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7188G>T	10.37:g.16957842C>A	ENSP00000367064:p.Glu2396Asp		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.E2396D	ENST00000377833.4	37	c.7188	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012107	0.75046	.	.	ENSG00000107611	ENST00000377833	T	0.22336	1.96	5.79	4.89	0.63831	CUB (5);	0.000000	0.47455	D	0.000222	T	0.43277	0.1240	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.36696	-0.9737	10	0.56958	D	0.05	.	9.2739	0.37688	0.0:0.7859:0.0:0.2141	.	2396	O60494	CUBN_HUMAN	D	2396	ENSP00000367064:E2396D	ENSP00000367064:E2396D	E	-	3	2	CUBN	16997848	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.856000	0.39389	1.488000	0.48433	0.644000	0.83932	GAG	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		16957842	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	1.000	A
CUZD1	50624	genome.wustl.edu	37	10	124593209	124593209	+	Nonsense_Mutation	SNP	G	G	A	rs142209822		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:124593209G>A	ENST00000368904.1	-	10	2579	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	CUZD1_ENST00000392790.1_Nonsense_Mutation_p.R544*|CUZD1_ENST00000545804.1_Nonsense_Mutation_p.R544*					CUB and zona pellucida-like domains 1									p.R544*(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CTTGCACTTCGATCCCTTTTC	0.403																																																	1	Substitution - Nonsense(1)	large_intestine(1)						G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	145.0	137.0	140.0		1630	2.1	0.2	10	dbSNP_134	140	0,8598		0,0,4299	no	stop-gained	CUZD1	NM_022034.5		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		544/608	124593209	2,13002	2203	4299	6502	SO:0001587	stop_gained	50624			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1630C>T	10.37:g.124593209G>A	ENSP00000357900:p.Arg544*			Nonsense_Mutation	SNP	pfam_ZP_dom,pfam_CUB,superfamily_CUB,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_ZP_dom,prints_ZP_dom	p.R544*	ENST00000368904.1	37	c.1630	CCDS7631.1	10	.	.	.	.	.	.	.	.	.	.	G	42	9.770707	0.99260	4.54E-4	0.0	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	.	.	.	5.1	2.08	0.27032	.	0.312773	0.21904	N	0.067413	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-2.887	3.744	0.08541	0.1459:0.1616:0.5766:0.1159	.	.	.	.	X	544;263;263;178;263;544;544	.	ENSP00000340905:R178X	R	-	1	2	CUZD1	124583199	0.018000	0.18449	0.154000	0.22540	0.637000	0.38172	1.793000	0.38764	0.202000	0.20498	0.655000	0.94253	CGA	CUZD1	-	NULL		0.403	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUZD1	HGNC	protein_coding	OTTHUMT00000050829.2	G	NM_022034		124593209	-1	no_errors	ENST00000368904	ensembl	human	known	70_37	nonsense	SNP	0.008	A
CWC25	54883	genome.wustl.edu	37	17	36971289	36971289	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:36971289C>T	ENST00000225428.5	-	3	550	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CWC25_ENST00000536127.1_Missense_Mutation_p.E22K	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	85										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						AGCAGGTACTCGTCACGGTTC	0.463																																																	0													134.0	134.0	134.0					17																	36971289		1906	4115	6021	SO:0001583	missense	54883			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.253G>A	17.37:g.36971289C>T	ENSP00000225428:p.Glu85Lys		A0JLM3|Q68DK5	Missense_Mutation	SNP	pfam_CWC25,pfam_CIR_N_dom	p.E85K	ENST00000225428.5	37	c.253	CCDS45663.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.304218	0.95601	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.32	5.32	0.75619	.	0.046432	0.85682	D	0.000000	D	0.84037	0.5384	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.977	T	0.83336	-0.0010	9	0.27785	T	0.31	.	17.5768	0.87952	0.0:1.0:0.0:0.0	.	22;85	B4DJK2;Q9NXE8	.;CWC25_HUMAN	K	85;22	.	ENSP00000225428:E85K	E	-	1	0	CWC25	34224815	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.070000	0.76763	2.518000	0.84900	0.561000	0.74099	GAG	CWC25	-	pfam_CWC25		0.463	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC25	HGNC	protein_coding	OTTHUMT00000442186.6	C	NM_017748		36971289	-1	no_errors	ENST00000225428	ensembl	human	known	70_37	missense	SNP	1.000	T
CWH43	80157	genome.wustl.edu	37	4	48988465	48988465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:48988465G>T	ENST00000226432.4	+	1	202	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	CWH43_ENST00000513409.1_5'Flank	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	7					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGTGGAGAGAAATCCTCTT	0.716																																																	0													14.0	16.0	15.0					4																	48988465		2151	4191	6342	SO:0001587	stop_gained	80157				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.19G>T	4.37:g.48988465G>T	ENSP00000226432:p.Glu7*		B2RPD7	Nonsense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.E7*	ENST00000226432.4	37	c.19	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.456816	0.96223	.	.	ENSG00000109182	ENST00000226432	.	.	.	3.07	3.07	0.35406	.	0.510472	0.16651	N	0.205201	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1067	0.59252	0.0:0.0:1.0:0.0	.	.	.	.	X	7	.	.	E	+	1	0	CWH43	48683222	0.993000	0.37304	0.750000	0.31169	0.009000	0.06853	4.340000	0.59328	2.016000	0.59253	0.563000	0.77884	GAA	CWH43	-	NULL		0.716	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	G	NM_025087		48988465	+1	no_errors	ENST00000226432	ensembl	human	known	70_37	nonsense	SNP	0.833	T
CX3CR1	1524	genome.wustl.edu	37	3	39323113	39323113	+	5'Flank	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:39323113C>A	ENST00000541347.1	-	0	0				CX3CR1_ENST00000358309.3_Missense_Mutation_p.R25I|CX3CR1_ENST00000542107.1_5'Flank|CX3CR1_ENST00000399220.2_5'Flank	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1						cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		actggccattctccacccaga	0.522																																																	0													89.0	85.0	87.0					3																	39323113		1568	3582	5150	SO:0001631	upstream_gene_variant	1524			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249		3.37:g.39323113C>A	Exception_encountered		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_fractalkine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.R25I	ENST00000541347.1	37	c.74	CCDS43069.1	3	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298919	0.40694	.	.	ENSG00000168329	ENST00000358309	T	0.66815	-0.23	1.96	1.96	0.26148	.	.	.	.	.	T	0.63153	0.2487	.	.	.	0.22745	N	0.998781	.	.	.	.	.	.	T	0.56565	-0.7958	6	0.59425	D	0.04	.	7.4334	0.27141	0.0:1.0:0.0:0.0	.	.	.	.	I	25	ENSP00000351059:R25I	ENSP00000351059:R25I	R	-	2	0	CX3CR1	39298117	0.000000	0.05858	0.081000	0.20488	0.189000	0.23516	-0.443000	0.06862	1.422000	0.47177	0.655000	0.94253	AGA	CX3CR1	-	NULL		0.522	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	HGNC	protein_coding	OTTHUMT00000343613.1	C	NM_001337		39323113	-1	no_errors	ENST00000358309	ensembl	human	known	70_37	missense	SNP	0.090	A
CXorf30	645090	genome.wustl.edu	37	X	36366394	36366394	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:36366394A>C	ENST00000378657.4	+	12	1580	c.932A>C	c.(931-933)aAa>aCa	p.K311T		NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	311										breast(1)|lung(2)|stomach(1)	4						TTGGATATAAAATTTAAAAGG	0.264																																																	0													20.0	17.0	18.0					X																	36366394		692	1557	2249	SO:0001583	missense	645090				CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.932A>C	X.37:g.36366394A>C	ENSP00000367926:p.Lys311Thr			Missense_Mutation	SNP	NULL	p.K311T	ENST00000378657.4	37	c.932	CCDS55396.1	X	.	.	.	.	.	.	.	.	.	.	A	8.006	0.756566	0.15846	.	.	ENSG00000205081	ENST00000378653;ENST00000378657	T;T	0.23147	1.92;1.93	4.61	2.09	0.27110	.	1.023830	0.07772	N	0.951990	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.22211	0.066	B	0.25614	0.062	T	0.36040	-0.9764	10	0.27082	T	0.32	-0.0576	7.5254	0.27652	0.7955:0.0:0.2045:0.0	.	311	A6PW82	CX030_HUMAN	T	596;311	ENSP00000367922:K596T;ENSP00000367926:K311T	ENSP00000367922:K596T	K	+	2	0	CXorf30	36276315	0.020000	0.18652	0.000000	0.03702	0.001000	0.01503	1.262000	0.32992	0.536000	0.28733	0.425000	0.28330	AAA	CXorf30	-	NULL		0.264	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf30	HGNC	protein_coding		A	NP_001092313		36366394	+1	no_errors	ENST00000378657	ensembl	human	known	70_37	missense	SNP	0.000	C
CXorf30	645090	genome.wustl.edu	37	X	36379467	36379467	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:36379467C>T	ENST00000378657.4	+	15	1860	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F		NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	404										breast(1)|lung(2)|stomach(1)	4						TACATGAATTCGAGTATGAAA	0.254																																																	0													44.0	35.0	37.0					X																	36379467		691	1563	2254	SO:0001819	synonymous_variant	645090				CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.1212C>T	X.37:g.36379467C>T				Silent	SNP	NULL	p.F404	ENST00000378657.4	37	c.1212	CCDS55396.1	X																																																																																			CXorf30	-	NULL		0.254	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf30	HGNC	protein_coding		C	NP_001092313		36379467	+1	no_errors	ENST00000378657	ensembl	human	known	70_37	silent	SNP	0.152	T
CHDC2	286464	genome.wustl.edu	37	X	36090079	36090079	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:36090079T>G	ENST00000313548.4	+	3	367	c.181T>G	c.(181-183)Tta>Gta	p.L61V		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	61						integral component of membrane (GO:0016021)											AAAGGGAAACTTATTTATTGG	0.348																																																	0													59.0	53.0	55.0					X																	36090079		2202	4300	6502	SO:0001583	missense	286464			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.181T>G	X.37:g.36090079T>G	ENSP00000324767:p.Leu61Val			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.L61V	ENST00000313548.4	37	c.181	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	T	8.471	0.857462	0.17106	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	3.79	-0.566	0.11767	.	0.643341	0.11904	N	0.518326	T	0.15782	0.0380	N	0.14661	0.345	0.09310	N	1	B	0.25441	0.126	B	0.22753	0.041	T	0.21449	-1.0245	9	0.22706	T	0.39	-0.9872	2.4984	0.04627	0.2256:0.3456:0.0:0.4288	.	61	Q8N9S7	CX059_HUMAN	V	61	.	ENSP00000324767:L61V	L	+	1	2	CXorf59	36000000	0.010000	0.17322	0.000000	0.03702	0.043000	0.13939	0.120000	0.15647	-0.196000	0.10366	-0.367000	0.07326	TTA	CXorf59	-	NULL		0.348	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf59	HGNC	protein_coding		T	NM_173695		36090079	+1	no_errors	ENST00000313548	ensembl	human	known	70_37	missense	SNP	0.000	G
CHDC2	286464	genome.wustl.edu	37	X	36117987	36117987	+	Missense_Mutation	SNP	G	G	T	rs267606444		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:36117987G>T	ENST00000313548.4	+	7	1029	c.843G>T	c.(841-843)caG>caT	p.Q281H		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	281						integral component of membrane (GO:0016021)											TATTTCTACAGATATACAAGG	0.328																																																	0													101.0	114.0	110.0					X																	36117987		2202	4299	6501	SO:0001583	missense	286464			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.843G>T	X.37:g.36117987G>T	ENSP00000324767:p.Gln281His			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.Q281H	ENST00000313548.4	37	c.843	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	g	14.50	2.555194	0.45487	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.73	-0.197	0.13228	.	0.000000	0.56097	D	0.000028	T	0.63212	0.2492	M	0.73962	2.25	0.21416	N	0.999698	D	0.89917	1.0	D	0.87578	0.998	T	0.58200	-0.7678	9	0.87932	D	0	-13.2623	10.1129	0.42574	0.5792:0.0:0.4208:0.0	.	281	Q8N9S7	CX059_HUMAN	H	281	.	ENSP00000324767:Q281H	Q	+	3	2	CXorf59	36027908	1.000000	0.71417	0.879000	0.34478	0.707000	0.40811	0.841000	0.27613	-0.566000	0.06054	-1.138000	0.01928	CAG	CXorf59	-	NULL		0.328	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf59	HGNC	protein_coding		G	NM_173695		36117987	+1	no_errors	ENST00000313548	ensembl	human	known	70_37	missense	SNP	0.963	T
CT83	203413	genome.wustl.edu	37	X	115593002	115593002	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:115593002T>G	ENST00000371894.4	-	2	394	c.248A>C	c.(247-249)aAc>aCc	p.N83T		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		83						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						CATACTGAGGTTTACCAATAT	0.433																																																	0													203.0	171.0	182.0					X																	115593002		2203	4300	6503	SO:0001583	missense	203413																														ENST00000371894.4:c.248A>C	X.37:g.115593002T>G	ENSP00000360961:p.Asn83Thr			Missense_Mutation	SNP	NULL	p.N83T	ENST00000371894.4	37	c.248	CCDS35372.1	X	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620551	0.28801	.	.	ENSG00000204019	ENST00000371894	.	.	.	5.2	4.04	0.47022	.	0.000000	0.45867	D	0.000339	T	0.40815	0.1132	L	0.29908	0.895	0.09310	N	1	D	0.67145	0.996	D	0.64776	0.929	T	0.15549	-1.0433	9	0.59425	D	0.04	-8.9057	6.6951	0.23195	0.0:0.1056:0.0:0.8944	.	83	Q5H943	KKLC1_HUMAN	T	83	.	ENSP00000360961:N83T	N	-	2	0	CXorf61	115507030	0.084000	0.21492	0.024000	0.17045	0.030000	0.12068	0.697000	0.25556	0.803000	0.34113	0.434000	0.28630	AAC	CXorf61	-	NULL		0.433	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf61	HGNC	protein_coding	OTTHUMT00000057985.1	T			115593002	-1	no_errors	ENST00000371894	ensembl	human	known	70_37	missense	SNP	0.096	G
CXorf40B	541578	genome.wustl.edu	37	X	149102009	149102009	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:149102009A>G	ENST00000370406.3	-	4	912	c.84T>C	c.(82-84)cgT>cgC	p.R28R	CXorf40B_ENST00000355203.2_Silent_p.R28R|CXorf40B_ENST00000462691.1_Silent_p.R28R|CXorf40B_ENST00000370404.1_Silent_p.R28R			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	28										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCAGAGGACGCCAGCGCG	0.597																																																	0													70.0	64.0	66.0					X																	149102009		2161	4297	6458	SO:0001819	synonymous_variant	541578			BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.84T>C	X.37:g.149102009A>G				Silent	SNP	superfamily_PUA-like_domain	p.R28	ENST00000370406.3	37	c.84	CCDS35426.1	X																																																																																			CXorf40B	-	superfamily_PUA-like_domain		0.597	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf40B	HGNC	protein_coding	OTTHUMT00000082896.2	A	NP_001013867		149102009	-1	no_errors	ENST00000355203	ensembl	human	known	70_37	silent	SNP	0.887	G
CYB5R2	51700	genome.wustl.edu	37	11	7686582	7686582	+	3'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:7686582A>C	ENST00000533558.1	-	0	1410				CYB5R2_ENST00000299498.6_3'UTR|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000524790.1_3'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2						oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGACATGCAAAATTGCTGAG	0.478											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													51.0	43.0	46.0					11																	7686582		2201	4296	6497	SO:0001624	3_prime_UTR_variant	51700			AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.*23T>G	11.37:g.7686582A>C		643	Q9BVA3|Q9UF68|Q9UHJ0	RNA	SNP	-	NULL	ENST00000533558.1	37	NULL	CCDS7780.1	11																																																																																			CYB5R2	-	-		0.478	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R2	HGNC	protein_coding	OTTHUMT00000385679.1	A	NM_016229		7686582	-1	no_errors	ENST00000528585	ensembl	human	known	70_37	rna	SNP	0.000	C
CYP26A1	1592	genome.wustl.edu	37	10	94835604	94835604	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:94835604G>A	ENST00000224356.4	+	5	931	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	CYP26A1_ENST00000371531.1_Missense_Mutation_p.E227K|CYP26A1_ENST00000394139.1_Missense_Mutation_p.E227K	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	296					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	ATCTTCAACCGAACTCCTCTT	0.493																																																	0													86.0	83.0	84.0					10																	94835604		2203	4300	6503	SO:0001583	missense	1592			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.886G>A	10.37:g.94835604G>A	ENSP00000224356:p.Glu296Lys		B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B	p.E296K	ENST00000224356.4	37	c.886	CCDS7426.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.526754	0.96431	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.70164	-0.46;-0.46;-0.46	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.81498	0.4835	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.957	T	0.76623	-0.2891	10	0.13470	T	0.59	-17.5918	19.0472	0.93027	0.0:0.0:1.0:0.0	.	227;296	B3KNI4;O43174	.;CP26A_HUMAN	K	227;296;227	ENSP00000360586:E227K;ENSP00000224356:E296K;ENSP00000377695:E227K	ENSP00000224356:E296K	E	+	1	0	CYP26A1	94825594	1.000000	0.71417	0.961000	0.40146	0.951000	0.60555	8.954000	0.93051	2.749000	0.94314	0.655000	0.94253	GAA	CYP26A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.493	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP26A1	HGNC	protein_coding	OTTHUMT00000049408.3	G			94835604	+1	no_errors	ENST00000224356	ensembl	human	known	70_37	missense	SNP	1.000	A
FAR2P1	440905	genome.wustl.edu	37	2	130798022	130798022	+	RNA	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:130798022A>G	ENST00000325390.3	-	0	2388					NR_026758.1																						GGCAATGGTTAGGTTCCTGCT	0.507																																																	0																																												646802																															2.37:g.130798022A>G				RNA	SNP	-	NULL	ENST00000325390.3	37	NULL		2																																																																																			AC018865.8	-	-		0.507	AC018865.8-002	KNOWN	basic	processed_transcript	CYP4F43P	Clone_based_vega_gene	pseudogene	OTTHUMT00000331630.3	A			130798022	-1	no_errors	ENST00000325390	ensembl	human	known	70_37	rna	SNP	1.000	G
CYP27A1	1593	genome.wustl.edu	37	2	219674429	219674429	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:219674429G>A	ENST00000258415.4	+	2	812	c.385G>A	c.(385-387)Gac>Aac	p.D129N		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	129					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	AGTACGGAACGACATGGAGCT	0.612																																																	0													147.0	124.0	132.0					2																	219674429		2203	4300	6503	SO:0001583	missense	1593			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.385G>A	2.37:g.219674429G>A	ENSP00000258415:p.Asp129Asn		A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D129N	ENST00000258415.4	37	c.385	CCDS2423.1	2	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334363	0.60853	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	T;T	0.68624	-0.34;-0.34	5.63	-2.26	0.06867	.	0.457792	0.27577	N	0.018746	T	0.49098	0.1537	L	0.41356	1.27	0.20403	N	0.999902	P	0.41947	0.766	B	0.41332	0.354	T	0.48896	-0.8994	10	0.26408	T	0.33	-4.0347	5.7474	0.18128	0.062:0.1555:0.2923:0.4901	.	129	Q02318	CP27A_HUMAN	N	129;35	ENSP00000258415:D129N;ENSP00000392671:D35N	ENSP00000258415:D129N	D	+	1	0	CYP27A1	219382673	0.976000	0.34144	0.001000	0.08648	0.977000	0.68977	1.697000	0.37784	-0.872000	0.04037	0.650000	0.86243	GAC	CYP27A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.612	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	HGNC	protein_coding	OTTHUMT00000109734.4	G			219674429	+1	no_errors	ENST00000258415	ensembl	human	known	70_37	missense	SNP	0.090	A
CYP4X1	260293	genome.wustl.edu	37	1	47489649	47489649	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:47489649T>C	ENST00000371901.3	+	1	410	c.160T>C	c.(160-162)Ttc>Ctc	p.F54L	CYP4X1_ENST00000538609.1_Intron	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	54						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CACCCACTGGTTCCTTGGGCA	0.697																																																	0													15.0	17.0	17.0					1																	47489649		2197	4294	6491	SO:0001583	missense	260293			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.160T>C	1.37:g.47489649T>C	ENSP00000360968:p.Phe54Leu		G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F54L	ENST00000371901.3	37	c.160	CCDS544.1	1	.	.	.	.	.	.	.	.	.	.	t	3.511	-0.099694	0.07010	.	.	ENSG00000186377	ENST00000371901	T	0.65364	-0.15	6.03	-1.39	0.08997	.	0.594657	0.17193	N	0.183412	T	0.24005	0.0581	N	0.00778	-1.195	0.47009	D	0.999283	B	0.09022	0.002	B	0.15484	0.013	T	0.43782	-0.9370	10	0.02654	T	1	.	12.4743	0.55803	0.0:0.5887:0.0:0.4113	.	54	Q8N118	CP4X1_HUMAN	L	54	ENSP00000360968:F54L	ENSP00000360968:F54L	F	+	1	0	CYP4X1	47262236	0.978000	0.34361	0.265000	0.24526	0.691000	0.40173	0.312000	0.19397	-0.226000	0.09899	0.529000	0.55759	TTC	CYP4X1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.697	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4X1	HGNC	protein_coding	OTTHUMT00000022017.1	T	NM_178033		47489649	+1	no_errors	ENST00000371901	ensembl	human	known	70_37	missense	SNP	0.290	C
DACH1	1602	genome.wustl.edu	37	13	72134009	72134009	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:72134009G>A	ENST00000359684.2	-	6	1539	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.R462C			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	514					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTGCTGCTGCGATGTGATGAT	0.547																																																	0													48.0	53.0	51.0					13																	72134009		2062	4221	6283	SO:0001583	missense	1602			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1540C>T	13.37:g.72134009G>A	ENSP00000352712:p.Arg514Cys		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.R514C	ENST00000359684.2	37	c.1540		13	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347713	0.61183	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.33654	1.43;1.4	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.27098	0.0664	L	0.44542	1.39	0.80722	D	1	P	0.38745	0.645	B	0.23150	0.044	T	0.07986	-1.0744	10	0.45353	T	0.12	-11.9473	14.6171	0.68558	0.0:0.0:0.8543:0.1457	.	460	Q9UI36-2	.	C	462;514;514	ENSP00000304994:R462C;ENSP00000352712:R514C	ENSP00000304994:R462C	R	-	1	0	DACH1	71032010	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	6.196000	0.72094	2.673000	0.90976	0.650000	0.86243	CGC	DACH1	-	NULL		0.547	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	G	NM_004392		72134009	-1	no_errors	ENST00000359684	ensembl	human	known	70_37	missense	SNP	0.999	A
DAOA	267012	genome.wustl.edu	37	13	106142333	106142333	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:106142333G>A	ENST00000375936.3	+	4	411	c.365G>A	c.(364-366)cGc>cAc	p.R122H	DAOA_ENST00000329625.5_Missense_Mutation_p.R51H|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	122					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					tctaaggaccgcaggcagcct	0.463																																																	0																																										SO:0001583	missense	267012			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.365G>A	13.37:g.106142333G>A	ENSP00000365103:p.Arg122His		A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	NULL	p.R122H	ENST00000375936.3	37	c.365	CCDS41905.1	13	.	.	.	.	.	.	.	.	.	.	G	6.003	0.368882	0.11352	.	.	ENSG00000182346	ENST00000375936;ENST00000329625	T	0.32753	1.44	2.36	-2.94	0.05581	.	.	.	.	.	T	0.14657	0.0354	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17653	-1.0362	9	0.87932	D	0	.	3.652	0.08206	0.2561:0.0:0.3911:0.3527	.	94;122	A2T115;P59103	.;DAOA_HUMAN	H	122;51	ENSP00000365103:R122H	ENSP00000329951:R51H	R	+	2	0	DAOA	104940334	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.518000	0.06267	-1.400000	0.02061	-2.606000	0.00160	CGC	DAOA	-	NULL		0.463	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DAOA	HGNC	protein_coding	OTTHUMT00000099040.2	G	NM_172370		106142333	+1	no_errors	ENST00000375936	ensembl	human	known	70_37	missense	SNP	0.000	A
DBF4	10926	genome.wustl.edu	37	7	87537139	87537139	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:87537139C>T	ENST00000265728.1	+	12	2190	c.1686C>T	c.(1684-1686)gaC>gaT	p.D562D		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	562					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ATGAATGTGACTTCAAGAATA	0.363																																																	0													77.0	80.0	79.0					7																	87537139		2202	4293	6495	SO:0001819	synonymous_variant	10926			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1686C>T	7.37:g.87537139C>T			A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Silent	SNP	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.D562	ENST00000265728.1	37	c.1686	CCDS5611.1	7																																																																																			DBF4	-	NULL		0.363	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBF4	HGNC	protein_coding	OTTHUMT00000253678.1	C	NM_006716		87537139	+1	no_errors	ENST00000265728	ensembl	human	known	70_37	silent	SNP	0.001	T
DCAF12L2	340578	genome.wustl.edu	37	X	125298619	125298619	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:125298619G>A	ENST00000360028.2	-	1	1315	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A430V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430								p.A430G(4)|p.A430E(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTGTAGAGCGCATTGGGGAA	0.602																																																	6	Substitution - Missense(6)	lung(6)											118.0	118.0	118.0					X																	125298619		2203	4300	6503	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1289C>T	X.37:g.125298619G>A	ENSP00000353128:p.Ala430Val		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A430V	ENST00000360028.2	37	c.1289	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852949	0.71719	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.41758	0.99;0.99	3.93	3.93	0.45458	.	0.000000	0.36134	N	0.002770	T	0.60327	0.2260	M	0.73598	2.24	0.48632	D	0.99968	D	0.89917	1.0	D	0.63793	0.918	T	0.65520	-0.6148	10	0.66056	D	0.02	.	12.9304	0.58284	0.0:0.0:1.0:0.0	.	430	Q5VW00	DC122_HUMAN	V	430	ENSP00000441489:A430V;ENSP00000353128:A430V	ENSP00000353128:A430V	A	-	2	0	DCAF12L2	125126300	1.000000	0.71417	0.842000	0.33263	0.680000	0.39746	6.782000	0.75073	2.209000	0.71365	0.600000	0.82982	GCG	DCAF12L2	-	NULL		0.602	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	G	NM_001013628		125298619	-1	no_errors	ENST00000360028	ensembl	human	known	70_37	missense	SNP	0.996	A
DCAF7	10238	genome.wustl.edu	37	17	61671187	61671187	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:61671187T>G	ENST00000310827.4	+	0	5899				DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7						multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						AAATGGAGATTTCTTGCTCTG	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	10238			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.*4653T>G	17.37:g.61671187T>G			B4E039|D3DU14|O15491|Q9DAE4	RNA	SNP	-	NULL	ENST00000310827.4	37	NULL		17																																																																																			DCAF7	-	-		0.383	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	HGNC	protein_coding		T	NM_005828		61671187	+1	no_errors	ENST00000577702	ensembl	human	known	70_37	rna	SNP	1.000	G
DCAF8L2	347442	genome.wustl.edu	37	X	27766685	27766685	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:27766685A>C	ENST00000451261.2	+	5	2072	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	558										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AAGGTGATTAAGAAGAACAAG	0.507																																																	0													132.0	96.0	107.0					X																	27766685		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1673A>C	X.37:g.27766685A>C	ENSP00000462745:p.Lys558Thr		B2RXH9|J3KT06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K558T	ENST00000451261.2	37	c.1673	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL		0.507	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	A	XM_293354		27766685	+1	no_errors	ENST00000451261	ensembl	human	known	70_37	missense	SNP	1.000	C
DCC	1630	genome.wustl.edu	37	18	50832091	50832091	+	Splice_Site	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:50832091T>G	ENST00000442544.2	+	13	2669		c.e13+2		DCC_ENST00000412726.1_Splice_Site|DCC_ENST00000581580.1_Splice_Site	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATTCACAGGTCAGTGTTCAC	0.413																																																	0													90.0	94.0	93.0					18																	50832091		2203	4300	6503	SO:0001630	splice_region_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2053+2T>G	18.37:g.50832091T>G				Splice_Site	SNP	-	e13+2	ENST00000442544.2	37	c.2053+2	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	T	27.1	4.800361	0.90538	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0365	0.71751	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCC	49086089	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.845000	0.69437	2.239000	0.73571	0.533000	0.62120	.	DCC	-	-		0.413	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	T	NM_005215	Intron	50832091	+1	no_errors	ENST00000442544	ensembl	human	known	70_37	splice_site	SNP	1.000	G
DCC	1630	genome.wustl.edu	37	18	51056749	51056749	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:51056749C>A	ENST00000442544.2	+	29	4870				RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.I1062I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AATATGCAATCTCTTATTATC	0.423																																																	0																																										SO:0001627	intron_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4255-185C>A	18.37:g.51056749C>A				Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I1062	ENST00000442544.2	37	c.3186	CCDS11952.1	18																																																																																			DCC	-	NULL		0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	C	NM_005215		51056749	+1	no_errors	ENST00000581580	ensembl	human	putative	70_37	silent	SNP	0.000	A
DCHS1	8642	genome.wustl.edu	37	11	6645079	6645079	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:6645079T>C	ENST00000299441.3	-	21	8239	c.7828A>G	c.(7828-7830)Aca>Gca	p.T2610A	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2610	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGTACTGTCACACGGTAG	0.577																																																	0													206.0	183.0	191.0					11																	6645079		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7828A>G	11.37:g.6645079T>C	ENSP00000299441:p.Thr2610Ala		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T2610A	ENST00000299441.3	37	c.7828	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	3.387	-0.125114	0.06795	.	.	ENSG00000166341	ENST00000299441	T	0.52295	0.67	5.13	4.18	0.49190	Cadherin (3);Cadherin-like (1);	0.314147	0.22910	N	0.054145	T	0.28200	0.0696	L	0.35249	1.045	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	10	0.07030	T	0.85	.	4.3722	0.11253	0.0:0.5864:0.1868:0.2267	.	2610	Q96JQ0	PCD16_HUMAN	A	2610	ENSP00000299441:T2610A	ENSP00000299441:T2610A	T	-	1	0	DCHS1	6601655	0.003000	0.15002	0.890000	0.34922	0.964000	0.63967	0.835000	0.27531	0.657000	0.30906	-0.128000	0.14901	ACA	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	T	NM_003737		6645079	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	0.907	C
DCHS1	8642	genome.wustl.edu	37	11	6651105	6651105	+	Silent	SNP	T	T	C	rs201414753	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:6651105T>C	ENST00000299441.3	-	11	5244	c.4833A>G	c.(4831-4833)caA>caG	p.Q1611Q	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1611	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCAGCTCGTTGTTCGCGGT	0.662																																																	0													48.0	48.0	48.0					11																	6651105		2201	4296	6497	SO:0001819	synonymous_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4833A>G	11.37:g.6651105T>C			O15098	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1611	ENST00000299441.3	37	c.4833	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.662	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	T	NM_003737		6651105	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	silent	SNP	0.988	C
DCST2	127579	genome.wustl.edu	37	1	154996951	154996951	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154996951C>T	ENST00000368424.3	-	11	1797	c.1739G>A	c.(1738-1740)aGt>aAt	p.S580N	DCST2_ENST00000295536.5_Missense_Mutation_p.S580N	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	580						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCTCACCGACTGGCCAGCAC	0.567																																																	0													52.0	54.0	53.0					1																	154996951		2203	4300	6503	SO:0001583	missense	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1739G>A	1.37:g.154996951C>T	ENSP00000357409:p.Ser580Asn		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	pfam_DC_STAMP-like	p.S580N	ENST00000368424.3	37	c.1739	CCDS1082.2	1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178587	0.38511	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.24908	1.83;1.84	4.38	-5.29	0.02747	.	3.063890	0.01553	N	0.019747	T	0.02929	0.0087	N	0.12182	0.205	0.09310	N	1	B	0.28324	0.207	B	0.21546	0.035	T	0.17961	-1.0352	10	0.17369	T	0.5	.	3.528	0.07766	0.3855:0.1548:0.372:0.0877	.	580	Q5T1A1	DCST2_HUMAN	N	580	ENSP00000357409:S580N;ENSP00000295536:S580N	ENSP00000295536:S580N	S	-	2	0	DCST2	153263575	0.000000	0.05858	0.018000	0.16275	0.851000	0.48451	-0.663000	0.05299	-0.537000	0.06290	0.462000	0.41574	AGT	DCST2	-	NULL		0.567	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	C	NM_144622		154996951	-1	no_errors	ENST00000368424	ensembl	human	known	70_37	missense	SNP	0.001	T
DCST1	149095	genome.wustl.edu	37	1	155019788	155019788	+	Splice_Site	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:155019788C>T	ENST00000295542.1	+	14	1708	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	DCST1_ENST00000392480.1_Splice_Site_p.P538S|DCST1_ENST00000368419.2_Splice_Site_p.P538S|DCST1_ENST00000423025.2_Splice_Site_p.P513S|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	538						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AAACAACATGCGTGAGTGATG	0.547																																																	0													77.0	74.0	75.0					1																	155019788		2203	4300	6503	SO:0001630	splice_region_variant	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1612+1C>T	1.37:g.155019788C>T			B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.P538S	ENST00000295542.1	37	c.1612	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554585	0.27739	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.88	3.9	0.45041	Dendritic cell-specific transmembrane protein-like (1);	0.302543	0.30781	N	0.008899	T	0.10852	0.0265	L	0.47716	1.5	0.36925	D	0.891597	B;B	0.29270	0.24;0.24	B;B	0.24541	0.054;0.054	T	0.03051	-1.1078	10	0.11794	T	0.64	-30.9901	10.5999	0.45360	0.0:0.8052:0.1948:0.0	.	513;538	E9PHV3;Q5T197	.;DCST1_HUMAN	S	538;538;513;538	ENSP00000295542:P538S;ENSP00000376271:P538S;ENSP00000387369:P513S;ENSP00000357404:P538S	ENSP00000295542:P538S	P	+	1	0	DCST1	153286412	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.002000	0.40835	2.688000	0.91661	0.655000	0.94253	CCC	DCST1	-	pfam_DC_STAMP-like		0.547	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	C	NM_152494	Missense_Mutation	155019788	+1	no_errors	ENST00000295542	ensembl	human	known	70_37	missense	SNP	1.000	T
DCTN6	10671	genome.wustl.edu	37	8	30038070	30038070	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:30038070C>T	ENST00000221114.3	+	6	485	c.398C>T	c.(397-399)aCa>aTa	p.T133I	RP11-51J9.4_ENST00000523733.1_RNA|DCTN6_ENST00000520829.1_Missense_Mutation_p.T133I	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	133					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776)				endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		AACCTAAATACATTTGAAGTC	0.433																																																	0													156.0	128.0	137.0					8																	30038070		2203	4300	6503	SO:0001583	missense	10671			D84145	CCDS6076.1	8p12-p11	2003-03-20			ENSG00000104671	ENSG00000104671			16964	protein-coding gene	gene with protein product		612963				9168138	Standard	NM_006571		Approved	WS-3	uc003xhy.3	O00399	OTTHUMG00000163828	ENST00000221114.3:c.398C>T	8.37:g.30038070C>T	ENSP00000221114:p.Thr133Ile		B2RAC1	Missense_Mutation	SNP	superfamily_Trimer_LpxA-like	p.T133I	ENST00000221114.3	37	c.398	CCDS6076.1	8	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467081	0.84533	.	.	ENSG00000104671	ENST00000221114;ENST00000520829	.	.	.	5.33	5.33	0.75918	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	M	0.71581	2.175	0.80722	D	1	P	0.38395	0.629	B	0.43575	0.424	T	0.69277	-0.5187	9	0.44086	T	0.13	-14.044	16.5114	0.84286	0.0:1.0:0.0:0.0	.	133	O00399	DCTN6_HUMAN	I	133	.	ENSP00000221114:T133I	T	+	2	0	DCTN6	30157612	1.000000	0.71417	0.615000	0.29064	0.978000	0.69477	6.844000	0.75390	2.490000	0.84030	0.467000	0.42956	ACA	DCTN6	-	superfamily_Trimer_LpxA-like		0.433	DCTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN6	HGNC	protein_coding	OTTHUMT00000375815.2	C	NM_006571		30038070	+1	no_errors	ENST00000221114	ensembl	human	known	70_37	missense	SNP	0.998	T
DCUN1D3	123879	genome.wustl.edu	37	16	20871284	20871284	+	Missense_Mutation	SNP	C	C	T	rs142074017		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:20871284C>T	ENST00000324344.4	-	3	1124	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.R280Q|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	280					negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		TCTTTTCCTTCGCTCCATTTC	0.557																																																	0								C	GLN/ARG	0,4402		0,0,2201	70.0	62.0	65.0		839	6.1	1.0	16	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCUN1D3	NM_173475.2	43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	280/305	20871284	1,13001	2201	4300	6501	SO:0001583	missense	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.839G>A	16.37:g.20871284C>T	ENSP00000319482:p.Arg280Gln		B3KVY4	Missense_Mutation	SNP	pfam_PONY_dom	p.R280Q	ENST00000324344.4	37	c.839	CCDS10592.1	16	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460450	0.63401	0.0	1.16E-4	ENSG00000188215	ENST00000324344	.	.	.	6.08	6.08	0.98989	.	0.113545	0.64402	D	0.000015	T	0.44561	0.1299	L	0.39085	1.19	0.50813	D	0.999897	B	0.25486	0.127	B	0.10450	0.005	T	0.33497	-0.9866	9	0.09338	T	0.73	-24.4653	14.7703	0.69671	0.0:0.9316:0.0:0.0684	.	280	Q8IWE4	DCNL3_HUMAN	Q	280	.	ENSP00000319482:R280Q	R	-	2	0	DCUN1D3	20778785	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	3.289000	0.51747	2.894000	0.99253	0.655000	0.94253	CGA	DCUN1D3	-	NULL		0.557	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D3	HGNC	protein_coding	OTTHUMT00000254415.2	C	NM_173475		20871284	-1	no_errors	ENST00000324344	ensembl	human	known	70_37	missense	SNP	1.000	T
DDB2	1643	genome.wustl.edu	37	11	47256412	47256412	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:47256412T>G	ENST00000256996.4	+	6	1002	c.807T>G	c.(805-807)atT>atG	p.I269M	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.I205M|DDB2_ENST00000378601.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	269					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CAGTGAAAATTTGGGACCTGC	0.532			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	0													49.0	48.0	48.0					11																	47256412		2201	4298	6499	SO:0001583	missense	1643	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.807T>G	11.37:g.47256412T>G	ENSP00000256996:p.Ile269Met		B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I269M	ENST00000256996.4	37	c.807	CCDS7927.1	11	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379331	0.61845	.	.	ENSG00000134574	ENST00000256996;ENST00000378603	T;T	0.65916	-0.18;-0.18	5.68	1.66	0.24008	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.164825	0.53938	D	0.000051	T	0.62636	0.2444	L	0.51914	1.62	0.80722	D	1	P;D	0.57899	0.858;0.981	B;P	0.55615	0.415;0.78	T	0.60657	-0.7220	10	0.66056	D	0.02	-22.5164	5.8929	0.18923	0.0:0.5885:0.1255:0.286	.	205;269	Q92466-4;Q92466	.;DDB2_HUMAN	M	269;205	ENSP00000256996:I269M;ENSP00000367866:I205M	ENSP00000256996:I269M	I	+	3	3	DDB2	47212988	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	0.213000	0.17521	0.327000	0.23409	-0.230000	0.12252	ATT	DDB2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.532	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DDB2	HGNC	protein_coding		T	NM_000107		47256412	+1	no_errors	ENST00000256996	ensembl	human	known	70_37	missense	SNP	0.998	G
DDX28	55794	genome.wustl.edu	37	16	68055763	68055763	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:68055763C>T	ENST00000332395.5	-	1	2007	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000432752.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	448	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		AAGTATGTCTCGGGAGCTCTT	0.507																																																	0													71.0	69.0	70.0					16																	68055763		2198	4300	6498	SO:0001583	missense	55794			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1343G>A	16.37:g.68055763C>T	ENSP00000332340:p.Arg448Gln			Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R448Q	ENST00000332395.5	37	c.1343	CCDS10858.1	16	.	.	.	.	.	.	.	.	.	.	C	4.215	0.038648	0.08148	.	.	ENSG00000182810	ENST00000332395	T	0.72051	-0.62	5.81	-2.74	0.05932	Helicase, C-terminal (3);	0.854495	0.10329	N	0.687865	T	0.47838	0.1467	N	0.20445	0.575	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24012	-1.0172	10	0.30854	T	0.27	-0.5518	5.1679	0.15096	0.0969:0.22:0.096:0.5871	.	448	Q9NUL7	DDX28_HUMAN	Q	448	ENSP00000332340:R448Q	ENSP00000332340:R448Q	R	-	2	0	DDX28	66613264	0.000000	0.05858	0.806000	0.32338	0.895000	0.52256	-0.760000	0.04756	-0.365000	0.08076	-0.252000	0.11476	CGA	DDX28	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.507	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX28	HGNC	protein_coding	OTTHUMT00000268883.1	C	NM_018380		68055763	-1	no_errors	ENST00000332395	ensembl	human	known	70_37	missense	SNP	0.000	T
DDX60	55601	genome.wustl.edu	37	4	169158512	169158512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:169158512C>A	ENST00000393743.3	-	32	4627	c.4336G>T	c.(4336-4338)Gaa>Taa	p.E1446*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1446					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTAGAAGGTTCATGATAATGC	0.338																																																	0													64.0	62.0	62.0					4																	169158512		2203	4299	6502	SO:0001587	stop_gained	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4336G>T	4.37:g.169158512C>A	ENSP00000377344:p.Glu1446*		Q6PK35|Q9NVE3	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1446*	ENST00000393743.3	37	c.4336	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	47	13.060567	0.99717	.	.	ENSG00000137628	ENST00000393743	.	.	.	5.65	4.8	0.61643	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	13.6737	0.62440	0.0:0.9254:0.0:0.0746	.	.	.	.	X	1446	.	ENSP00000377344:E1446X	E	-	1	0	DDX60	169395087	0.995000	0.38212	0.993000	0.49108	0.964000	0.63967	3.389000	0.52516	2.681000	0.91329	0.563000	0.77884	GAA	DDX60	-	NULL		0.338	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	C	NM_017631		169158512	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	nonsense	SNP	0.991	A
DDX60	55601	genome.wustl.edu	37	4	169208334	169208334	+	Missense_Mutation	SNP	C	C	A	rs72693161	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:169208334C>A	ENST00000393743.3	-	10	1495	c.1204G>T	c.(1204-1206)Gat>Tat	p.D402Y		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	402					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATAATGGTATCTCCCAAATTC	0.348																																																	0													71.0	69.0	70.0					4																	169208334		2203	4298	6501	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1204G>T	4.37:g.169208334C>A	ENSP00000377344:p.Asp402Tyr		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D402Y	ENST00000393743.3	37	c.1204	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019031	0.35606	.	.	ENSG00000137628	ENST00000393743	T	0.19532	2.14	4.72	-4.83	0.03161	.	0.929670	0.08987	N	0.865043	T	0.26048	0.0635	M	0.64997	1.995	0.09310	N	1	D	0.58970	0.984	P	0.50617	0.646	T	0.20207	-1.0282	10	0.62326	D	0.03	.	7.3402	0.26633	0.0:0.3146:0.1136:0.5719	.	402	Q8IY21	DDX60_HUMAN	Y	402	ENSP00000377344:D402Y	ENSP00000377344:D402Y	D	-	1	0	DDX60	169444909	0.000000	0.05858	0.004000	0.12327	0.504000	0.33889	-0.555000	0.05999	-1.071000	0.03145	-0.373000	0.07131	GAT	DDX60	-	NULL		0.348	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	C	NM_017631		169208334	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	missense	SNP	0.005	A
DENND2A	27147	genome.wustl.edu	37	7	140301317	140301317	+	Missense_Mutation	SNP	C	C	A	rs368471013		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:140301317C>A	ENST00000275884.6	-	2	1298	c.881G>T	c.(880-882)aGa>aTa	p.R294I	DENND2A_ENST00000537639.1_Missense_Mutation_p.R294I|DENND2A_ENST00000496613.1_Missense_Mutation_p.R294I|DENND2A_ENST00000492720.1_Missense_Mutation_p.R294I			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	294					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					aggCAGATTTCTTTTCTCTTT	0.567																																																	0								C	ILE/ARG	0,3950		0,0,1975	68.0	74.0	72.0		881	3.7	0.4	7		72	1,8315		0,1,4157	no	missense	DENND2A	NM_015689.3	97	0,1,6132	AA,AC,CC		0.012,0.0,0.0082	possibly-damaging	294/1010	140301317	1,12265	1975	4158	6133	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.881G>T	7.37:g.140301317C>A	ENSP00000275884:p.Arg294Ile		C9JUI3|Q1RMD5|Q86XY0	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.R294I	ENST00000275884.6	37	c.881	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693168	0.68271	0.0	1.2E-4	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.11169	3.51;3.51;3.51;2.8	4.61	3.73	0.42828	.	0.351278	0.30732	N	0.008984	T	0.24470	0.0593	L	0.60455	1.87	0.58432	D	0.999999	D;B	0.63880	0.993;0.107	P;B	0.62089	0.898;0.017	T	0.00812	-1.1556	10	0.42905	T	0.14	-16.0064	12.6952	0.56999	0.0:0.9203:0.0:0.0797	.	294;294	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	I	294	ENSP00000275884:R294I;ENSP00000442245:R294I;ENSP00000419654:R294I;ENSP00000419464:R294I	ENSP00000275884:R294I	R	-	2	0	DENND2A	139947786	1.000000	0.71417	0.360000	0.25837	0.982000	0.71751	4.468000	0.60162	1.174000	0.42811	0.462000	0.41574	AGA	DENND2A	-	NULL		0.567	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	C	NM_015689		140301317	-1	no_errors	ENST00000275884	ensembl	human	known	70_37	missense	SNP	0.996	A
DENND2A	27147	genome.wustl.edu	37	7	140302122	140302122	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:140302122T>G	ENST00000275884.6	-	2	493	c.76A>C	c.(76-78)Aga>Cga	p.R26R	DENND2A_ENST00000537639.1_Silent_p.R26R|DENND2A_ENST00000496613.1_Silent_p.R26R|DENND2A_ENST00000492720.1_Silent_p.R26R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	26					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGAACACCTCTGAGCTGCTTC	0.517																																																	0													107.0	100.0	102.0					7																	140302122		1958	4161	6119	SO:0001819	synonymous_variant	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.76A>C	7.37:g.140302122T>G			C9JUI3|Q1RMD5|Q86XY0	Silent	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.R26	ENST00000275884.6	37	c.76	CCDS43659.1	7																																																																																			DENND2A	-	NULL		0.517	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	T	NM_015689		140302122	-1	no_errors	ENST00000275884	ensembl	human	known	70_37	silent	SNP	0.000	G
DENND4C	55667	genome.wustl.edu	37	9	19316628	19316628	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:19316628A>C	ENST00000380432.2	+	8	923	c.890A>C	c.(889-891)aAa>aCa	p.K297T	DENND4C_ENST00000602925.1_Missense_Mutation_p.K533T|DENND4C_ENST00000434457.2_Missense_Mutation_p.K533T			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	297					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTTCACCAAAAAACTCAAGAA	0.323																																																	0													80.0	86.0	84.0					9																	19316628		2202	4300	6502	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.890A>C	9.37:g.19316628A>C	ENSP00000369797:p.Lys297Thr		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.K297T	ENST00000380432.2	37	c.890		9	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290801	0.23564	.	.	ENSG00000137145	ENST00000380437	.	.	.	5.15	5.15	0.70609	.	0.360471	0.34291	N	0.004082	T	0.51924	0.1703	L	0.38838	1.175	0.80722	D	1	B	0.23185	0.081	B	0.20955	0.032	T	0.46965	-0.9153	9	0.23302	T	0.38	-21.8858	15.1295	0.72511	1.0:0.0:0.0:0.0	.	297	Q5VZ89	DEN4C_HUMAN	T	297	.	ENSP00000369802:K297T	K	+	2	0	DENND4C	19306628	0.987000	0.35691	1.000000	0.80357	0.988000	0.76386	2.472000	0.45136	2.162000	0.67917	0.477000	0.44152	AAA	DENND4C	-	NULL		0.323	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		A	NM_017925		19316628	+1	no_errors	ENST00000380437	ensembl	human	known	70_37	missense	SNP	0.999	C
DEPDC5	9681	genome.wustl.edu	37	22	32289577	32289577	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:32289577T>C	ENST00000382112.3	+	38	4086	c.4016T>C	c.(4015-4017)gTc>gCc	p.V1339A	DEPDC5_ENST00000535622.1_Missense_Mutation_p.V1248A|DEPDC5_ENST00000400248.2_Missense_Mutation_p.V1317A|DEPDC5_ENST00000539165.1_Missense_Mutation_p.V165A|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000400246.1_Missense_Mutation_p.V1348A|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V1326A|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V1317A|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V1348A	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1348					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCTGCCACTGTCCCAGAGCAG	0.488																																																	0													77.0	79.0	78.0					22																	32289577		1985	4178	6163	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4016T>C	22.37:g.32289577T>C	ENSP00000371546:p.Val1339Ala		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.V1326A	ENST00000382112.3	37	c.3977	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	T	26.2	4.713641	0.89112	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	T;T;T;T;T;T;T	0.34275	1.37;1.8;1.8;1.76;1.8;1.76;1.8	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000001	T	0.47619	0.1455	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D;D;D	0.76494	0.995;0.998;0.999;0.996;0.994;0.994	D;D;D;D;D;D	0.81914	0.978;0.986;0.995;0.987;0.97;0.97	T	0.50197	-0.8856	10	0.66056	D	0.02	.	13.8902	0.63733	0.0:0.0:0.0:1.0	.	1348;1248;734;1326;1339;1317	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	A	1248;1326;1317;1248;1348;1339;1348;1317;165	ENSP00000440210:V1248A;ENSP00000266091:V1326A;ENSP00000383108:V1317A;ENSP00000383105:V1348A;ENSP00000371546:V1339A;ENSP00000371545:V1348A;ENSP00000383107:V1317A	ENSP00000266091:V1326A	V	+	2	0	DEPDC5	30619577	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.542000	0.82095	1.874000	0.54306	0.460000	0.39030	GTC	DEPDC5	-	NULL		0.488	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	T	NM_014662		32289577	+1	no_errors	ENST00000266091	ensembl	human	known	70_37	missense	SNP	1.000	C
DET1	55070	genome.wustl.edu	37	15	89060067	89060067	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:89060067T>C	ENST00000268148.8	-	4	1554	c.1409A>G	c.(1408-1410)gAc>gGc	p.D470G	DET1_ENST00000564406.1_Missense_Mutation_p.D481G|DET1_ENST00000444300.1_Missense_Mutation_p.D481G	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	470						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TACCCACTTGTCATCATAACT	0.522																																																	0													48.0	49.0	48.0					15																	89060067		1936	4153	6089	SO:0001583	missense	55070			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1409A>G	15.37:g.89060067T>C	ENSP00000268148:p.Asp470Gly		B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.D481G	ENST00000268148.8	37	c.1442	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740869	0.89573	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	M	0.79258	2.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.961	T	0.81614	-0.0853	9	0.87932	D	0	-35.7388	15.0164	0.71588	0.0:0.0:0.0:1.0	.	470;481	Q7L5Y6;B3KNN6	DET1_HUMAN;.	G	481;470	.	ENSP00000268148:D470G	D	-	2	0	DET1	86861071	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.681000	0.84073	2.326000	0.78906	0.533000	0.62120	GAC	DET1	-	pfam_De-etiolated_protein_1_Det1		0.522	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	T	NM_017996		89060067	-1	no_errors	ENST00000444300	ensembl	human	known	70_37	missense	SNP	1.000	C
DGKD	8527	genome.wustl.edu	37	2	234294805	234294806	+	Intron	INS	-	-	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:234294805_234294806insT	ENST00000264057.2	+	2	168				DGKD_ENST00000409813.3_5'Flank|AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000489613.1_3'UTR	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTGGTTTTGTCTTTTTTTTTTT	0.406																																																	0																																										SO:0001627	intron_variant	8527			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.157-2097->T	2.37:g.234294816_234294816dupT			Q14158|Q6PK55|Q8NG53	RNA	INS	-	NULL	ENST00000264057.2	37	NULL	CCDS2504.1	2																																																																																			DGKD	-	-		0.406	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2	-	NM_003648		234294806	+1	no_errors	ENST00000489613	ensembl	human	putative	70_37	rna	INS	0.000:0.000	T
DGKK	139189	genome.wustl.edu	37	X	50111812	50111812	+	RNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:50111812G>T	ENST00000376025.2	-	0	4001							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAGTGAAAAGAATTGGAGGG	0.383																																																	0																																												139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50111812G>T			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.383	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	G	NM_001013742		50111812	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.557	T
DGKK	139189	genome.wustl.edu	37	X	50213188	50213188	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:50213188C>A	ENST00000376025.2	-	0	549							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GGGCAGAACTCTGGGGCCAGC	0.622																																																	0													29.0	31.0	30.0					X																	50213188		1917	4107	6024			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213188C>A			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.622	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	C	NM_001013742		50213188	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.020	A
DHDH	27294	genome.wustl.edu	37	19	49438278	49438278	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:49438278G>A	ENST00000221403.2	+	2	152	c.112G>A	c.(112-114)Gat>Aat	p.D38N	DHDH_ENST00000523250.1_Missense_Mutation_p.D38N|DHDH_ENST00000522614.1_Missense_Mutation_p.D38N	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	38					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		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)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGCGGCCCGCGATCTGAGCCG	0.637																																																	0													26.0	21.0	23.0					19																	49438278		2195	4289	6484	SO:0001583	missense	27294			AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.112G>A	19.37:g.49438278G>A	ENSP00000221403:p.Asp38Asn			Missense_Mutation	SNP	pfam_Oxidoreductase_N	p.D38N	ENST00000221403.2	37	c.112	CCDS12741.1	19	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795357	0.16327	.	.	ENSG00000104808	ENST00000221403;ENST00000523250;ENST00000522614	T;T;T	0.23147	1.92;1.92;1.92	4.99	1.48	0.22813	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.302988	0.35708	N	0.003036	T	0.12220	0.0297	N	0.25060	0.705	0.32759	N	0.505395	B	0.30870	0.298	B	0.23716	0.048	T	0.13282	-1.0515	10	0.30078	T	0.28	-34.1741	5.2412	0.15473	0.084:0.1435:0.6251:0.1475	.	38	Q9UQ10	DHDH_HUMAN	N	38	ENSP00000221403:D38N;ENSP00000428935:D38N;ENSP00000428672:D38N	ENSP00000221403:D38N	D	+	1	0	DHDH	54130090	0.997000	0.39634	0.811000	0.32455	0.013000	0.08279	2.738000	0.47401	0.804000	0.34136	0.563000	0.77884	GAT	DHDH	-	pfam_Oxidoreductase_N		0.637	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHDH	HGNC	protein_coding	OTTHUMT00000381477.1	G	NM_014475		49438278	+1	no_errors	ENST00000221403	ensembl	human	known	70_37	missense	SNP	0.584	A
DHRS7B	25979	genome.wustl.edu	37	17	21094389	21094389	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:21094389C>G	ENST00000395511.3	+	7	1221	c.901C>G	c.(901-903)Cga>Gga	p.R301G	DHRS7B_ENST00000579303.1_Missense_Mutation_p.R286G|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	301						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TGTTTATCTTCGAACTCTGGC	0.547																																																	0													234.0	211.0	219.0					17																	21094389		2203	4300	6503	SO:0001583	missense	25979			BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.901C>G	17.37:g.21094389C>G	ENSP00000378887:p.Arg301Gly		B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R301G	ENST00000395511.3	37	c.901	CCDS11215.1	17	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659119	0.67586	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	T	0.53640	0.61	5.8	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81872	-0.0733	10	0.66056	D	0.02	.	15.2619	0.73631	0.392:0.608:0.0:0.0	.	301	Q6IAN0	DRS7B_HUMAN	G	301	ENSP00000378887:R301G	ENSP00000320352:R301G	R	+	1	2	DHRS7B	21034981	0.963000	0.33076	0.841000	0.33234	0.996000	0.88848	1.949000	0.40313	1.404000	0.46819	0.655000	0.94253	CGA	DHRS7B	-	NULL		0.547	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHRS7B	HGNC	protein_coding	OTTHUMT00000444066.3	C	NM_015510		21094389	+1	no_errors	ENST00000395511	ensembl	human	known	70_37	missense	SNP	0.917	G
DHX9	1660	genome.wustl.edu	37	1	182827939	182827939	+	Missense_Mutation	SNP	A	A	C	rs555173310		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:182827939A>C	ENST00000367549.3	+	10	1082	c.972A>C	c.(970-972)caA>caC	p.Q324H		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	324	Interaction with BRCA1.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CTCAGCGACAAAACCAAGTGG	0.443																																					Colon(69;210 1162 3697 13559 39565)												0													111.0	100.0	104.0					1																	182827939		1900	4134	6034	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.972A>C	1.37:g.182827939A>C	ENSP00000356520:p.Gln324His		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.Q324H	ENST00000367549.3	37	c.972	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.383722	0.42308	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.09445	2.98	5.73	-0.971	0.10303	.	0.057323	0.64402	D	0.000001	T	0.10594	0.0259	L	0.57536	1.79	0.45930	D	0.998765	B	0.09022	0.002	B	0.08055	0.003	T	0.14755	-1.0461	10	0.34782	T	0.22	.	11.1791	0.48616	0.5637:0.0:0.4363:0.0	.	324	Q08211	DHX9_HUMAN	H	324	ENSP00000356520:Q324H	ENSP00000356520:Q324H	Q	+	3	2	DHX9	181094562	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	0.956000	0.29202	-0.038000	0.13624	0.533000	0.62120	CAA	DHX9	-	NULL		0.443	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	A	NM_030588		182827939	+1	no_errors	ENST00000367549	ensembl	human	known	70_37	missense	SNP	1.000	C
DICER1	23405	genome.wustl.edu	37	14	95596528	95596528	+	Splice_Site	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:95596528A>G	ENST00000526495.1	-	7	731	c.440T>C	c.(439-441)gTt>gCt	p.V147A	DICER1_ENST00000343455.3_Splice_Site_p.V147A|DICER1_ENST00000393063.1_Splice_Site_p.V147A|DICER1_ENST00000527414.1_Splice_Site_p.V147A|DICER1_ENST00000541352.1_Splice_Site_p.V147A			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CATAATGAGAACCTAAAATAA	0.338			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													71.0	60.0	64.0					14																	95596528		2203	4300	6503	SO:0001630	splice_region_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.439-1T>C	14.37:g.95596528A>G			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.V147A	ENST00000526495.1	37	c.440	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757892	0.89843	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.84	5.84	0.93424	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56195	-0.8019	10	0.66056	D	0.02	-31.6978	16.2096	0.82148	1.0:0.0:0.0:0.0	.	147	Q9UPY3	DICER_HUMAN	A	147	ENSP00000343745:V147A;ENSP00000437256:V147A;ENSP00000376783:V147A;ENSP00000435681:V147A;ENSP00000444719:V147A	ENSP00000343745:V147A	V	-	2	0	DICER1	94666281	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.850000	0.92190	2.222000	0.72286	0.528000	0.53228	GTT	DICER1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.338	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	A		Missense_Mutation	95596528	-1	no_errors	ENST00000343455	ensembl	human	known	70_37	missense	SNP	1.000	G
DKK1	22943	genome.wustl.edu	37	10	54076460	54076460	+	Nonsense_Mutation	SNP	G	G	T	rs11001564	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:54076460G>T	ENST00000373970.3	+	4	833	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	232	DKK-type Cys-2.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TCATGGACTAGAAATATTCCA	0.443																																																	0													115.0	109.0	111.0					10																	54076460		2203	4300	6503	SO:0001587	stop_gained	22943				CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.694G>T	10.37:g.54076460G>T	ENSP00000363081:p.Glu232*		B2RC19	Nonsense_Mutation	SNP	pfam_Dickkopf_N	p.E232*	ENST00000373970.3	37	c.694	CCDS7246.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.416750	0.97550	.	.	ENSG00000107984	ENST00000373970	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.0044	19.9882	0.97356	0.0:0.0:1.0:0.0	.	.	.	.	X	232	.	ENSP00000363081:E232X	E	+	1	0	DKK1	53746466	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GAA	DKK1	-	NULL		0.443	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK1	HGNC	protein_coding	OTTHUMT00000048100.1	G			54076460	+1	no_errors	ENST00000373970	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DLG2	1740	genome.wustl.edu	37	11	83874521	83874521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:83874521C>A	ENST00000532653.1	-	4	594	c.292G>T	c.(292-294)Gaa>Taa	p.E98*	DLG2_ENST00000531015.1_Nonsense_Mutation_p.E65*|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Nonsense_Mutation_p.E37*|DLG2_ENST00000418306.2_Nonsense_Mutation_p.E47*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.E137*|DLG2_ENST00000543673.1_Nonsense_Mutation_p.E203*|DLG2_ENST00000376104.2_Nonsense_Mutation_p.E203*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.E98*|DLG2_ENST00000398309.2_Nonsense_Mutation_p.E98*|DLG2_ENST00000398301.2_Nonsense_Mutation_p.E137*			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGTGTAATTTCTTCAAATTCA	0.318																																																	0													87.0	83.0	85.0					11																	83874521		1787	4061	5848	SO:0001587	stop_gained	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.292G>T	11.37:g.83874521C>A	ENSP00000435849:p.Glu98*		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Nonsense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E203*	ENST00000532653.1	37	c.607		11	.	.	.	.	.	.	.	.	.	.	C	36	5.955492	0.97145	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1585	0.65432	0.0:1.0:0.0:0.0	.	.	.	.	X	98;203;47;203;137;37;98;98;203;65;137;15	.	.	E	-	1	0	DLG2	83552169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.674000	0.61612	2.696000	0.92011	0.655000	0.94253	GAA	DLG2	-	pfam_PDZ,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ		0.318	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	C	NM_001364		83874521	-1	no_errors	ENST00000376104	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DLAT	1737	genome.wustl.edu	37	11	111916683	111916683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:111916683G>T	ENST00000280346.6	+	10	2046	c.1387G>T	c.(1387-1389)Gaa>Taa	p.E463*	DLAT_ENST00000393051.1_Nonsense_Mutation_p.E358*|DLAT_ENST00000537636.1_Nonsense_Mutation_p.E234*	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	463	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		GGTACGGAAAGAACTTAATAA	0.303																																																	0													61.0	56.0	58.0					11																	111916683		2200	4295	6495	SO:0001587	stop_gained	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1387G>T	11.37:g.111916683G>T	ENSP00000280346:p.Glu463*		Q16783|Q53EP3	Nonsense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L	p.E463*	ENST00000280346.6	37	c.1387	CCDS8354.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.508386	0.97624	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	.	.	.	5.78	4.86	0.63082	.	0.099482	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-20.0734	16.9803	0.86325	0.0:0.1274:0.8726:0.0	.	.	.	.	X	463;358;295;234	.	ENSP00000280346:E463X	E	+	1	0	DLAT	111421893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.213000	0.95133	1.436000	0.47453	0.655000	0.94253	GAA	DLAT	-	pfam_2-oxoacid_DH_actylTfrase,tigrfam_AcTrfase_Pyrv_DH_cplx_L		0.303	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLAT	HGNC	protein_coding	OTTHUMT00000258167.1	G	NM_001931		111916683	+1	no_errors	ENST00000280346	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	31196837	31196837	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:31196837C>T	ENST00000357033.4	-	70	10378	c.10172G>A	c.(10171-10173)cGa>cAa	p.R3391Q	DMD_ENST00000378680.2_Missense_Mutation_p.R323Q|DMD_ENST00000378707.3_Missense_Mutation_p.R931Q|DMD_ENST00000361471.4_Missense_Mutation_p.R323Q|DMD_ENST00000474231.1_Missense_Mutation_p.R931Q|DMD_ENST00000343523.2_Missense_Mutation_p.R931Q|DMD_ENST00000378677.2_Missense_Mutation_p.R3387Q|DMD_ENST00000359836.1_Missense_Mutation_p.R931Q|DMD_ENST00000378723.3_Missense_Mutation_p.R323Q|DMD_ENST00000541735.1_Missense_Mutation_p.R931Q|DMD_ENST00000378702.4_Missense_Mutation_p.R323Q	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	3391	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)				GTAGCCCATTCGGGGATGCTT	0.423																																																	0			GRCh37	CI072563	DMD	I							203.0	159.0	174.0					X																	31196837		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.10172G>A	X.37:g.31196837C>T	ENSP00000354923:p.Arg3391Gln		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.R3391Q	ENST00000357033.4	37	c.10172	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	35	5.491130	0.96339	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.3	5.3	0.74995	.	0.000000	0.31020	U	0.008402	D	0.89698	0.6790	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D;D;P;D;D;D;D;D;P;D;P;P	0.89917	0.962;0.998;0.998;1.0;0.996;0.996;0.826;0.996;0.996;1.0;1.0;0.96;0.855;0.998;0.792;0.897	B;P;P;P;P;P;P;P;P;P;D;P;B;P;B;B	0.66196	0.194;0.867;0.652;0.86;0.47;0.47;0.502;0.783;0.709;0.876;0.942;0.527;0.336;0.861;0.228;0.267	D	0.88765	0.3260	10	0.39692	T	0.17	.	18.0665	0.89392	0.0:1.0:0.0:0.0	.	323;3383;3391;3387;2050;2047;931;931;931;931;931;3268;323;323;323;323	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	3383;2050;2047;323;1087;3387;3391;931;931;3391;3268;931;931;323;931;323;323;181	ENSP00000367997:R323Q;ENSP00000350765:R1087Q;ENSP00000367948:R3387Q;ENSP00000354923:R3391Q;ENSP00000352894:R931Q;ENSP00000340057:R931Q;ENSP00000367979:R931Q;ENSP00000444119:R931Q;ENSP00000367974:R323Q;ENSP00000417123:R931Q;ENSP00000354464:R323Q;ENSP00000367951:R323Q;ENSP00000367977:R181Q	ENSP00000340057:R931Q	R	-	2	0	DMD	31106758	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.541000	0.67212	2.458000	0.83093	0.600000	0.82982	CGA	DMD	-	pirsf_Dystrophin/utrophin		0.423	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		31196837	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	31496411	31496411	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:31496411T>G	ENST00000357033.4	-	59	8955	c.8749A>C	c.(8749-8751)Aaa>Caa	p.K2917Q	DMD_ENST00000359836.1_Missense_Mutation_p.K457Q|DMD_ENST00000445312.1_5'Flank|DMD_ENST00000378707.3_Missense_Mutation_p.K457Q|DMD_ENST00000343523.2_Missense_Mutation_p.K457Q|DMD_ENST00000378677.2_Missense_Mutation_p.K2913Q|DMD_ENST00000474231.1_Missense_Mutation_p.K457Q|DMD_ENST00000541735.1_Missense_Mutation_p.K457Q	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	2917					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)				AGGTTCAATTTTTCCCACTCA	0.502																																																	0													72.0	66.0	68.0					X																	31496411		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.8749A>C	X.37:g.31496411T>G	ENSP00000354923:p.Lys2917Gln		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.K2917Q	ENST00000357033.4	37	c.8749	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.46|13.46	2.244684|2.244684	0.39697|0.39697	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35|.	5.4|5.4	4.23|4.23	0.50019|0.50019	.|.	0.000000|0.000000	0.38720|0.38720	U|U	0.001596|0.001596	T|T	0.42899|0.42899	0.1223|0.1223	L|L	0.49126|0.49126	1.545|1.545	0.27380|0.27380	N|N	0.955431|0.955431	B;B;P;B;B;B;B;B;B;B;B|.	0.48764|.	0.119;0.085;0.915;0.158;0.158;0.09;0.029;0.029;0.085;0.138;0.232|.	B;B;B;B;B;B;B;B;B;B;B|.	0.42062|.	0.211;0.017;0.374;0.046;0.046;0.055;0.017;0.017;0.017;0.037;0.113|.	T|T	0.32375|0.32375	-0.9909|-0.9909	10|6	0.28530|.	T|.	0.3|.	.|.	10.0414|10.0414	0.42160|0.42160	0.0:0.0801:0.0:0.9199|0.0:0.0801:0.0:0.9199	.|.	2909;2917;2913;1576;1573;457;457;457;457;457;2794|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	Q|T	2909;1576;1573;613;2913;2917;457;457;2917;2794;457;457;457|645	ENSP00000350765:K613Q;ENSP00000367948:K2913Q;ENSP00000354923:K2917Q;ENSP00000352894:K457Q;ENSP00000340057:K457Q;ENSP00000367979:K457Q;ENSP00000444119:K457Q;ENSP00000417123:K457Q|.	ENSP00000340057:K457Q|.	K|K	-|-	1|2	0|0	DMD|DMD	31406332|31406332	0.510000|0.510000	0.26171|0.26171	0.996000|0.996000	0.52242|0.52242	0.982000|0.982000	0.71751|0.71751	2.142000|2.142000	0.42177|0.42177	1.916000|1.916000	0.55485|0.55485	0.430000|0.430000	0.28490|0.28490	AAA|AAA	DMD	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.502	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	T	NM_004006		31496411	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	0.839	G
DMD	1756	genome.wustl.edu	37	X	31950329	31950329	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:31950329C>A	ENST00000357033.4	-	46	6836	c.6630G>T	c.(6628-6630)aaG>aaT	p.K2210N	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.K2206N|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR	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	2210					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)				ACAAGATATTCTTTTGTTCTT	0.323																																																	0													54.0	51.0	52.0					X																	31950329		2201	4299	6500	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.6630G>T	X.37:g.31950329C>A	ENSP00000354923:p.Lys2210Asn		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.K2210N	ENST00000357033.4	37	c.6630	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	c	15.69	2.908617	0.52439	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.34859	1.34;1.34	5.81	5.81	0.92471	.	0.000000	0.36338	U	0.002645	T	0.32763	0.0840	L	0.29908	0.895	0.80722	D	1	B;P;P;P;P;P	0.48230	0.056;0.728;0.907;0.608;0.895;0.608	B;B;B;B;P;B	0.44518	0.056;0.372;0.444;0.205;0.452;0.149	T	0.02958	-1.1089	10	0.16896	T	0.51	.	19.0034	0.92842	0.0:1.0:0.0:0.0	.	869;2202;2210;2206;869;866	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	N	2202;869;866;2206;2210;2210;2087	ENSP00000367948:K2206N;ENSP00000354923:K2210N	ENSP00000354923:K2210N	K	-	3	2	DMD	31860250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.289000	0.51747	2.437000	0.82529	0.591000	0.81541	AAG	DMD	-	pirsf_Dystrophin/utrophin		0.323	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		31950329	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	A
DMPK	1760	genome.wustl.edu	37	19	46285499	46285499	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:46285499C>T	ENST00000291270.4	-	1	237	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	DMPK_ENST00000600757.1_5'Flank|DMPK_ENST00000354227.5_Missense_Mutation_p.A38T|DMPK_ENST00000458663.2_Missense_Mutation_p.A38T|DMPK_ENST00000343373.4_5'Flank|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000447742.2_Missense_Mutation_p.A38T	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	38					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AGTTCGGAGGCGCCCAGCTCC	0.697																																					Esophageal Squamous(35;307 869 9153 24033 28903)												0													17.0	20.0	19.0					19																	46285499		2203	4299	6502	SO:0001583	missense	1760			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.112G>A	19.37:g.46285499C>T	ENSP00000291270:p.Ala38Thr		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.A38T	ENST00000291270.4	37	c.112	CCDS12674.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.17|11.17	1.559479|1.559479	0.27827|0.27827	.|.	.|.	ENSG00000104936|ENSG00000104936	ENST00000458663;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000354227|ENST00000342805	T;T;T;T|.	0.66460|.	-0.21;-0.18;-0.2;-0.17|.	4.14|4.14	0.87|0.87	0.19102|0.19102	.|.	.|10.943000	.|0.00166	.|N	.|0.000010	T|T	0.18635|0.18635	0.0447|0.0447	N|N	0.03608|0.03608	-0.345|-0.345	0.23693|0.23693	N|N	0.99709|0.99709	B;P;P;P|B	0.44429|0.09022	0.03;0.835;0.835;0.528|0.002	B;B;B;B|B	0.25405|0.04013	0.016;0.06;0.06;0.012|0.001	T|T	0.17289|0.17289	-1.0374|-1.0374	9|9	0.22109|0.39692	T|T	0.4|0.17	.|.	5.454|5.454	0.16580|0.16580	0.0:0.5341:0.0:0.4659|0.0:0.5341:0.0:0.4659	.|.	38;38;38;38|44	Q09013-12;E5KR07;E5KR05;Q09013|G5E982	.;.;.;DMPK_HUMAN|.	T|H	38|44	ENSP00000401753:A38T;ENSP00000291270:A38T;ENSP00000413417:A38T;ENSP00000346168:A38T|.	ENSP00000291270:A38T|ENSP00000342201:R44H	A|R	-|-	1|2	0|0	DMPK|DMPK	50977339|50977339	0.006000|0.006000	0.16342|0.16342	0.644000|0.644000	0.29465|0.29465	0.943000|0.943000	0.58893|0.58893	-0.063000|-0.063000	0.11655|0.11655	0.470000|0.470000	0.27294|0.27294	0.462000|0.462000	0.41574|0.41574	GCC|CGC	DMPK	-	NULL		0.697	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DMPK	HGNC	protein_coding	OTTHUMT00000460572.1	C	NM_004409		46285499	-1	no_errors	ENST00000291270	ensembl	human	known	70_37	missense	SNP	0.020	T
DMXL1	1657	genome.wustl.edu	37	5	118433713	118433713	+	Missense_Mutation	SNP	G	G	A	rs147324580		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:118433713G>A	ENST00000311085.8	+	2	207	c.127G>A	c.(127-129)Gat>Aat	p.D43N	DMXL1_ENST00000539542.1_Missense_Mutation_p.D43N	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	43										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTGGGAAGCGATTTTGAAAG	0.328																																																	0								G	ASN/ASP	0,4404		0,0,2202	115.0	114.0	114.0		127	3.9	1.0	5	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense	DMXL1	NM_005509.4	23	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	43/3028	118433713	1,13003	2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.127G>A	5.37:g.118433713G>A	ENSP00000309690:p.Asp43Asn			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D43N	ENST00000311085.8	37	c.127	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086910	0.36855	0.0	1.16E-4	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.13307	2.6;2.96;2.6	5.98	3.86	0.44501	WD40 repeat-like-containing domain (1);	0.149813	0.56097	N	0.000025	T	0.11367	0.0277	L	0.35793	1.09	0.40762	D	0.983013	B;B	0.23316	0.083;0.019	B;B	0.19946	0.027;0.012	T	0.11690	-1.0577	10	0.22706	T	0.39	-18.2823	12.8762	0.57991	0.1591:0.0:0.8409:0.0	.	43;43	F5H269;Q9Y485	.;DMXL1_HUMAN	N	43	ENSP00000427692:D43N;ENSP00000309690:D43N;ENSP00000439479:D43N	ENSP00000309690:D43N	D	+	1	0	DMXL1	118461612	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.049000	0.49869	1.513000	0.48852	0.585000	0.79938	GAT	DMXL1	-	superfamily_WD40_repeat_dom		0.328	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	G	NM_005509		118433713	+1	no_errors	ENST00000539542	ensembl	human	known	70_37	missense	SNP	1.000	A
DNA2	1763	genome.wustl.edu	37	10	70209937	70209937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:70209937C>A	ENST00000358410.3	-	6	837	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	DNA2_ENST00000399180.2_Nonsense_Mutation_p.E349*|DNA2_ENST00000399179.2_Nonsense_Mutation_p.E263*	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	263	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAAATGCTTTCTTCAATATCC	0.328																																																	0													94.0	84.0	87.0					10																	70209937		1856	4094	5950	SO:0001587	stop_gained	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.787G>T	10.37:g.70209937C>A	ENSP00000351185:p.Glu263*		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Nonsense_Mutation	SNP	pfam_DNA_replication_fac_Dna2_N	p.E349*	ENST00000358410.3	37	c.1045		10	.	.	.	.	.	.	.	.	.	.	C	37	6.003472	0.97189	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	.	.	.	4.99	4.09	0.47781	.	0.131930	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.2013	0.59769	0.0:0.9231:0.0:0.0769	.	.	.	.	X	263;349;263;263	.	ENSP00000351185:E263X	E	-	1	0	DNA2	69879943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.503000	0.66962	1.111000	0.41721	0.655000	0.94253	GAA	DNA2	-	pfam_DNA_replication_fac_Dna2_N		0.328	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	C			70209937	-1	no_errors	ENST00000399180	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124382351	124382351	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:124382351A>G	ENST00000409039.3	+	54	8986	c.8961A>G	c.(8959-8961)gaA>gaG	p.E2987E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2987	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAATATAGAAAATGTGGTGA	0.413																																																	0													73.0	72.0	73.0					12																	124382351		1837	4095	5932	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8961A>G	12.37:g.124382351A>G			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.E2987	ENST00000409039.3	37	c.8961	CCDS9255.2	12																																																																																			DNAH10	-	NULL		0.413	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	A			124382351	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	silent	SNP	0.000	G
DNAH11	8701	genome.wustl.edu	37	7	21675628	21675628	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:21675628A>G	ENST00000409508.3	+	26	4671	c.4640A>G	c.(4639-4641)gAa>gGa	p.E1547G	DNAH11_ENST00000328843.6_Missense_Mutation_p.E1552G|DNAH11_ENST00000465593.1_3'UTR	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1552	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCACCTGGAAAGCATTTTT	0.393									Kartagener syndrome																																								0													82.0	77.0	79.0					7																	21675628		1870	4109	5979	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4640A>G	7.37:g.21675628A>G	ENSP00000475939:p.Glu1547Gly		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1552G	ENST00000409508.3	37	c.4655		7	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840014	0.91117	.	.	ENSG00000105877	ENST00000328843	T	0.67523	-0.27	5.56	5.56	0.83823	Dynein heavy chain, domain-2 (1);	0.246296	0.40064	N	0.001183	T	0.72748	0.3499	.	.	.	0.50813	D	0.999893	D	0.53619	0.961	P	0.49922	0.626	T	0.77115	-0.2707	9	0.87932	D	0	.	14.6877	0.69062	1.0:0.0:0.0:0.0	.	1552	Q96DT5	DYH11_HUMAN	G	1552	ENSP00000330671:E1552G	ENSP00000330671:E1552G	E	+	2	0	DNAH11	21642153	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.861000	0.75478	2.098000	0.63641	0.528000	0.53228	GAA	DNAH11	-	pfam_Dynein_heavy_dom-2		0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	A	NM_003777		21675628	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH11	8701	genome.wustl.edu	37	7	21677310	21677310	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:21677310T>G	ENST00000409508.3	+	27	4838	c.4807T>G	c.(4807-4809)Tta>Gta	p.L1603V	DNAH11_ENST00000328843.6_Missense_Mutation_p.L1608V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1608	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTAAAGATTTACAGTCCAG	0.303									Kartagener syndrome																																								0													58.0	55.0	56.0					7																	21677310		1814	4060	5874	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4807T>G	7.37:g.21677310T>G	ENSP00000475939:p.Leu1603Val		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L1608V	ENST00000409508.3	37	c.4822		7	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049174	0.55110	.	.	ENSG00000105877	ENST00000328843	T	0.63417	-0.04	5.97	4.8	0.61643	Dynein heavy chain, domain-2 (1);	0.073664	0.52532	D	0.000066	T	0.68274	0.2983	.	.	.	0.40158	D	0.977032	P	0.45715	0.865	P	0.51833	0.681	T	0.72401	-0.4305	9	0.62326	D	0.03	.	11.5495	0.50713	0.0:0.0726:0.0:0.9273	.	1608	Q96DT5	DYH11_HUMAN	V	1608	ENSP00000330671:L1608V	ENSP00000330671:L1608V	L	+	1	2	DNAH11	21643835	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.576000	0.23744	2.285000	0.76669	0.528000	0.53228	TTA	DNAH11	-	pfam_Dynein_heavy_dom-2		0.303	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	T	NM_003777		21677310	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH11	8701	genome.wustl.edu	37	7	21904205	21904205	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:21904205G>T	ENST00000409508.3	+	70	11457	c.11426G>T	c.(11425-11427)cGa>cTa	p.R3809L	DNAH11_ENST00000328843.6_Missense_Mutation_p.R3816L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3816					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCCTGCTTCGATTCACAGTT	0.363									Kartagener syndrome																																								0													132.0	126.0	128.0					7																	21904205		1860	4102	5962	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11426G>T	7.37:g.21904205G>T	ENSP00000475939:p.Arg3809Leu		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R3816L	ENST00000409508.3	37	c.11447		7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250485	0.80024	.	.	ENSG00000105877	ENST00000328843	T	0.63096	-0.02	5.31	5.31	0.75309	.	0.120411	0.56097	D	0.000022	T	0.73442	0.3587	.	.	.	0.80722	D	1	D	0.69078	0.997	P	0.57152	0.814	T	0.77178	-0.2683	9	0.87932	D	0	.	14.2258	0.65858	0.0737:0.0:0.9263:0.0	.	3816	Q96DT5	DYH11_HUMAN	L	3816	ENSP00000330671:R3816L	ENSP00000330671:R3816L	R	+	2	0	DNAH11	21870730	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	5.162000	0.64942	2.474000	0.83562	0.655000	0.94253	CGA	DNAH11	-	NULL		0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21904205	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH2	146754	genome.wustl.edu	37	17	7678138	7678138	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:7678138T>G	ENST00000572933.1	+	29	6023	c.4563T>G	c.(4561-4563)gaT>gaG	p.D1521E	DNAH2_ENST00000389173.2_Missense_Mutation_p.D1521E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1521	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATCTCTGGATATGTATTTAG	0.448																																																	0													90.0	85.0	87.0					17																	7678138		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4563T>G	17.37:g.7678138T>G	ENSP00000458355:p.Asp1521Glu		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.D1521E	ENST00000572933.1	37	c.4563	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311054	0.60414	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.59502	0.26	5.59	2.3	0.28687	Dynein heavy chain, domain-2 (1);	0.108239	0.64402	D	0.000012	T	0.50292	0.1607	N	0.25825	0.765	0.80722	D	1	P	0.41080	0.737	P	0.53809	0.735	T	0.36212	-0.9757	10	0.11182	T	0.66	.	7.5699	0.27900	0.0:0.5547:0.0:0.4453	.	1521	Q9P225	DYH2_HUMAN	E	1521	ENSP00000373825:D1521E	ENSP00000353818:D1521E	D	+	3	2	DNAH2	7618863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.332000	0.33805	0.114000	0.18032	0.519000	0.50382	GAT	DNAH2	-	pfam_Dynein_heavy_dom-2		0.448	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	T	NM_020877		7678138	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH3	55567	genome.wustl.edu	37	16	20981115	20981115	+	Splice_Site	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:20981115G>A	ENST00000261383.3	-	52	8456	c.8457C>T	c.(8455-8457)tcC>tcT	p.S2819S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2819	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCACTTACCGGAGCCACTGG	0.607																																																	0													95.0	91.0	92.0					16																	20981115		2201	4300	6501	SO:0001630	splice_region_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8458+1C>T	16.37:g.20981115G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.S2819	ENST00000261383.3	37	c.8457	CCDS10594.1	16																																																																																			DNAH3	-	NULL		0.607	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539	Silent	20981115	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.110	A
DNAH3	55567	genome.wustl.edu	37	16	21086767	21086767	+	Splice_Site	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:21086767C>T	ENST00000261383.3	-	21	3084		c.e21+1		DNAH3_ENST00000415178.1_Splice_Site	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGAGACTCACAGTGTCCCTG	0.443																																																	0													120.0	107.0	111.0					16																	21086767		2201	4300	6501	SO:0001630	splice_region_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3084+1G>A	16.37:g.21086767C>T			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Splice_Site	SNP	-	e21+1	ENST00000261383.3	37	c.3084+1	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.195878	0.94960	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH3	20994268	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.177000	0.77650	2.850000	0.98022	0.650000	0.86243	.	DNAH3	-	-		0.443	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539	Intron	21086767	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	splice_site	SNP	1.000	T
DNAH6	1768	genome.wustl.edu	37	2	84800608	84800608	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:84800608A>G	ENST00000237449.6	+	11	1829	c.1821A>G	c.(1819-1821)gcA>gcG	p.A607A	DNAH6_ENST00000398278.2_Silent_p.A607A|DNAH6_ENST00000389394.3_Silent_p.A607A			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	607	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTCAGGCCGCATTTGAATCAG	0.328																																																	0													85.0	89.0	87.0					2																	84800608		2203	4300	6503	SO:0001819	synonymous_variant	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1821A>G	2.37:g.84800608A>G			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.A607	ENST00000237449.6	37	c.1821	CCDS46348.1	2																																																																																			DNAH6	-	NULL		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	A	NM_001370		84800608	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	silent	SNP	1.000	G
DNAH6	1768	genome.wustl.edu	37	2	85023530	85023530	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:85023530T>G	ENST00000237449.6	+	68	11348	c.11340T>G	c.(11338-11340)gaT>gaG	p.D3780E	DNAH6_ENST00000389394.3_Missense_Mutation_p.D3780E			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3780					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TAGAAGAAGATTATAAATACT	0.393																																																	0													74.0	69.0	71.0					2																	85023530		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.11340T>G	2.37:g.85023530T>G	ENSP00000237449:p.Asp3780Glu		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D3780E	ENST00000237449.6	37	c.11340	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	T	9.675	1.147840	0.21288	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.08193	3.12;3.12	6.17	2.58	0.30949	Dynein heavy chain (1);	1.080440	0.07126	N	0.844717	T	0.04497	0.0123	N	0.11064	0.09	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.005	T	0.37865	-0.9687	10	0.18710	T	0.47	.	4.5248	0.11976	0.0:0.1853:0.1694:0.6453	.	3780;539	Q9C0G6;Q9C0G6-2	DYH6_HUMAN;.	E	3780	ENSP00000374045:D3780E;ENSP00000237449:D3780E	ENSP00000237449:D3780E	D	+	3	2	DNAH6	84877041	0.330000	0.24705	0.818000	0.32626	0.552000	0.35366	0.269000	0.18589	1.118000	0.41863	0.533000	0.62120	GAT	DNAH6	-	pfam_Dynein_heavy_dom		0.393	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	T	NM_001370		85023530	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	0.763	G
DNAH7	56171	genome.wustl.edu	37	2	196636535	196636535	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:196636535G>T	ENST00000312428.6	-	61	11382	c.11282C>A	c.(11281-11283)cCa>cAa	p.P3761Q	DNAH7_ENST00000409063.1_Missense_Mutation_p.P244Q	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3761					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAGTTGTTTGGAAGTTTGCC	0.448																																																	0													267.0	246.0	253.0					2																	196636535		2016	4166	6182	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11282C>A	2.37:g.196636535G>T	ENSP00000311273:p.Pro3761Gln		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.P3761Q	ENST00000312428.6	37	c.11282	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663831	0.88251	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.09255	3.0;3.0	5.08	5.08	0.68730	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74575	-0.3620	10	0.87932	D	0	.	18.2425	0.89971	0.0:0.0:1.0:0.0	.	3761	Q8WXX0	DYH7_HUMAN	Q	3761;244	ENSP00000311273:P3761Q;ENSP00000386912:P244Q	ENSP00000311273:P3761Q	P	-	2	0	DNAH7	196344780	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.963000	0.76055	2.630000	0.89119	0.655000	0.94253	CCA	DNAH7	-	pfam_Dynein_heavy_dom		0.448	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196636535	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH8	1769	genome.wustl.edu	37	6	38738332	38738332	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:38738332G>T	ENST00000359357.3	+	10	1364	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D	DNAH8_ENST00000441566.1_Missense_Mutation_p.E370D|DNAH8_ENST00000449981.2_Missense_Mutation_p.E587D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	370					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E370D(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAGACTGGAGAAGGTAAGCA	0.363																																																	2	Substitution - Missense(2)	cervix(2)											41.0	39.0	40.0					6																	38738332		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1110G>T	6.37:g.38738332G>T	ENSP00000352312:p.Glu370Asp		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E370D	ENST00000359357.3	37	c.1110		6	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829598	0.32329	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.55052	0.54;0.54;0.54	5.27	2.5	0.30297	Dynein heavy chain, domain-1 (1);	0.060689	0.64402	D	0.000005	T	0.18551	0.0445	L	0.38692	1.165	0.45962	D	0.998784	B	0.17038	0.02	B	0.24701	0.055	T	0.05903	-1.0857	10	0.13470	T	0.59	.	6.265	0.20922	0.3966:0.0:0.6034:0.0	.	370	Q96JB1	DYH8_HUMAN	D	575;575;370;370	ENSP00000333363:E575D;ENSP00000352312:E370D;ENSP00000402294:E370D	ENSP00000333363:E575D	E	+	3	2	DNAH8	38846310	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.107000	0.41844	0.725000	0.32318	-0.152000	0.13540	GAG	DNAH8	-	pfam_Dynein_heavy_dom-1		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38738332	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH8	1769	genome.wustl.edu	37	6	38820563	38820564	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:38820563_38820564insA	ENST00000359357.3	+	38	5163_5164	c.4909_4910insA	c.(4909-4911)gaafs	p.E1637fs	DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.E1637fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.E1854fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1637					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGAGAAGGAGAAAAAATTGTT	0.347																																																	0																																										SO:0001589	frameshift_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4915dupA	6.37:g.38820569_38820569dupA	ENSP00000352312:p.Glu1637fs		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.I1639fs	ENST00000359357.3	37	c.4909_4910		6																																																																																			DNAH8	-	pfam_Dynein_heavy_dom-2		0.347	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	NM_001206927		38820564	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
DNAH8	1769	genome.wustl.edu	37	6	38834409	38834409	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:38834409A>C	ENST00000359357.3	+	44	6144	c.5890A>C	c.(5890-5892)Aaa>Caa	p.K1964Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.K1964Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.K2181Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1964	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAAACCTAAAAATCCAGTT	0.328																																																	0													74.0	74.0	74.0					6																	38834409		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5890A>C	6.37:g.38834409A>C	ENSP00000352312:p.Lys1964Gln		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.K1964Q	ENST00000359357.3	37	c.5890		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.8|28.8	4.950677|4.950677	0.92660|0.92660	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566|ENST00000394393	T;T;T|.	0.14022|.	2.54;2.54;2.54|.	5.87|5.87	5.87|5.87	0.94306|0.94306	ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.79724|.	0.4495|.	M|M	0.87381|0.87381	2.88|2.88	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.82493|.	-0.0430|.	10|.	0.87932|.	D|.	0|.	.|.	16.5764|16.5764	0.84681|0.84681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1964|.	Q96JB1|.	DYH8_HUMAN|.	Q|Y	2169;2169;1964;1964|45	ENSP00000333363:K2169Q;ENSP00000352312:K1964Q;ENSP00000402294:K1964Q|.	ENSP00000333363:K2169Q|.	K|X	+|+	1|3	0|2	DNAH8|DNAH8	38942387|38942387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.277000|9.277000	0.95755|0.95755	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAA|TAA	DNAH8	-	smart_AAA+_ATPase		0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	A	NM_001206927		38834409	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH8	1769	genome.wustl.edu	37	6	38881726	38881726	+	Missense_Mutation	SNP	G	G	A	rs200884766		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:38881726G>A	ENST00000359357.3	+	65	9564	c.9310G>A	c.(9310-9312)Gaa>Aaa	p.E3104K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E3068K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3321K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3104	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAGCAGACGAAGTGAGTTT	0.368																																																	0													125.0	122.0	123.0					6																	38881726		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9310G>A	6.37:g.38881726G>A	ENSP00000352312:p.Glu3104Lys		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3104K	ENST00000359357.3	37	c.9310		6	.	.	.	.	.	.	.	.	.	.	G	9.637	1.137884	0.21123	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.80123	-1.34;-0.56;-0.56;-0.56	6.08	5.16	0.70880	Dynein heavy chain, coiled coil stalk (1);	0.100625	0.64402	D	0.000002	T	0.39253	0.1071	N	0.08118	0	0.49687	D	0.999811	B	0.11235	0.004	B	0.09377	0.004	T	0.43393	-0.9394	10	0.08837	T	0.75	.	6.7218	0.23334	0.1736:0.1499:0.6766:0.0	.	3104	Q96JB1	DYH8_HUMAN	K	3309;3309;3104;3068	ENSP00000415331:E3309K;ENSP00000333363:E3309K;ENSP00000352312:E3104K;ENSP00000402294:E3068K	ENSP00000333363:E3309K	E	+	1	0	DNAH8	38989704	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.666000	0.37460	2.894000	0.99253	0.655000	0.94253	GAA	DNAH8	-	NULL		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38881726	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH8	1769	genome.wustl.edu	37	6	38893972	38893972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:38893972G>T	ENST00000359357.3	+	72	10707	c.10453G>T	c.(10453-10455)Gaa>Taa	p.E3485*	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E3449*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E3702*|RP1-207H1.3_ENST00000418399.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3485	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAGGAAAAAGAAAATGATTT	0.363																																																	0													77.0	74.0	75.0					6																	38893972		2203	4300	6503	SO:0001587	stop_gained	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10453G>T	6.37:g.38893972G>T	ENSP00000352312:p.Glu3485*		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3485*	ENST00000359357.3	37	c.10453		6	.	.	.	.	.	.	.	.	.	.	G	53	20.879415	0.99935	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	6.05	5.17	0.71159	.	0.397579	0.30383	N	0.009758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	15.7548	0.78015	0.0662:0.0:0.9338:0.0	.	.	.	.	X	3690;3690;3485;3449	.	ENSP00000333363:E3690X	E	+	1	0	DNAH8	39001950	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.828000	0.48120	2.878000	0.98634	0.650000	0.86243	GAA	DNAH8	-	NULL		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38893972	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11700923	11700923	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:11700923G>T	ENST00000262442.4	+	43	8301	c.8233G>T	c.(8233-8235)Gac>Tac	p.D2745Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2745Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2745					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGATATTGAAGACCCTGTGGA	0.488																																																	0													87.0	76.0	80.0					17																	11700923		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8233G>T	17.37:g.11700923G>T	ENSP00000262442:p.Asp2745Tyr		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D2745Y	ENST00000262442.4	37	c.8233	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659921	0.47572	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.29655	1.6;1.56	5.29	4.11	0.48088	.	0.503746	0.20910	N	0.083500	T	0.30759	0.0775	L	0.42245	1.32	0.80722	D	1	B	0.25772	0.134	B	0.31191	0.125	T	0.24440	-1.0160	10	0.87932	D	0	.	14.7906	0.69841	0.0815:0.0:0.9185:0.0	.	2745	Q9NYC9	DYH9_HUMAN	Y	2745;2745;1327	ENSP00000262442:D2745Y;ENSP00000414874:D2745Y	ENSP00000262442:D2745Y	D	+	1	0	DNAH9	11641648	1.000000	0.71417	0.047000	0.18901	0.005000	0.04900	6.641000	0.74324	2.475000	0.83589	0.650000	0.86243	GAC	DNAH9	-	NULL		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11700923	+1	no_errors	ENST00000262442	ensembl	human	known	70_37	missense	SNP	0.998	T
DNAI2	64446	genome.wustl.edu	37	17	72283153	72283153	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:72283153A>C	ENST00000311014.6	+	4	450	c.383A>C	c.(382-384)gAc>gCc	p.D128A	DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000582036.1_Missense_Mutation_p.D128A|DNAI2_ENST00000579490.1_Missense_Mutation_p.D185A|DNAI2_ENST00000446837.2_Missense_Mutation_p.D128A			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	128					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AATGCCATTGACATCTATGAA	0.493									Kartagener syndrome																																								0													154.0	121.0	132.0					17																	72283153		2203	4300	6503	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.383A>C	17.37:g.72283153A>C	ENSP00000308312:p.Asp128Ala		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.D128A	ENST00000311014.6	37	c.383	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	A	18.36	3.607697	0.66558	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.17370	2.28;2.28	5.04	3.91	0.45181	WD40/YVTN repeat-like-containing domain (1);	0.286415	0.43747	D	0.000528	T	0.41166	0.1147	M	0.90650	3.135	0.80722	D	1	D	0.58620	0.983	P	0.56700	0.804	T	0.52071	-0.8624	10	0.72032	D	0.01	-69.3188	11.9285	0.52833	0.8553:0.1447:0.0:0.0	.	128	Q9GZS0	DNAI2_HUMAN	A	128	ENSP00000308312:D128A;ENSP00000400252:D128A	ENSP00000308312:D128A	D	+	2	0	DNAI2	69794748	1.000000	0.71417	0.997000	0.53966	0.610000	0.37248	6.349000	0.73013	2.127000	0.65507	0.477000	0.44152	GAC	DNAI2	-	NULL		0.493	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	A	NM_023036		72283153	+1	no_errors	ENST00000311014	ensembl	human	known	70_37	missense	SNP	0.999	C
DNAI2	64446	genome.wustl.edu	37	17	72301440	72301440	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:72301440T>G	ENST00000311014.6	+	9	1137	c.1070T>G	c.(1069-1071)gTg>gGg	p.V357G	DNAI2_ENST00000307504.5_Missense_Mutation_p.V214G|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000582036.1_Missense_Mutation_p.V357G|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000579490.1_Missense_Mutation_p.V414G|DNAI2_ENST00000446837.2_Missense_Mutation_p.V357G			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	357					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAAAAGATTGTGTGCACCTTC	0.587									Kartagener syndrome																																								0													105.0	86.0	92.0					17																	72301440		2203	4300	6503	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1070T>G	17.37:g.72301440T>G	ENSP00000308312:p.Val357Gly		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.V357G	ENST00000311014.6	37	c.1070	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001445	0.54254	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.14144	2.53;2.53;2.53	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114503	0.64402	D	0.000019	T	0.16342	0.0393	L	0.56769	1.78	0.80722	D	1	B	0.25719	0.132	B	0.34138	0.176	T	0.05533	-1.0879	10	0.22109	T	0.4	-44.4604	9.5875	0.39526	0.0:0.0898:0.0:0.9102	.	357	Q9GZS0	DNAI2_HUMAN	G	357;214;357	ENSP00000308312:V357G;ENSP00000302929:V214G;ENSP00000400252:V357G	ENSP00000302929:V214G	V	+	2	0	DNAI2	69813035	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.935000	0.70145	1.877000	0.54381	0.454000	0.30748	GTG	DNAI2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.587	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	T	NM_023036		72301440	+1	no_errors	ENST00000311014	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAJC11	55735	genome.wustl.edu	37	1	6695696	6695696	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:6695696G>T	ENST00000377577.5	-	0	1842				DNAJC11_ENST00000542246.1_3'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_3'UTR|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_3'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11							extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGGAAAAGATTTTTTGCG	0.358																																																	0													46.0	48.0	47.0					1																	6695696		2203	4300	6503	SO:0001624	3_prime_UTR_variant	55735			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.*39C>A	1.37:g.6695696G>T			Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	RNA	SNP	-	NULL	ENST00000377577.5	37	NULL	CCDS87.1	1																																																																																			DNAJC11	-	-		0.358	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	G	NM_018198		6695696	-1	no_errors	ENST00000465508	ensembl	human	known	70_37	rna	SNP	0.003	T
DNAJC21	134218	genome.wustl.edu	37	5	34945078	34945078	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:34945078A>C	ENST00000342382.4	+	8	1317	c.1090A>C	c.(1090-1092)Aat>Cat	p.N364H	DNAJC21_ENST00000303525.7_Missense_Mutation_p.N364H|DNAJC21_ENST00000382021.2_Missense_Mutation_p.N364H			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	364	Glu-rich.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AATTGATGAAAATCCATTAGA	0.358																																																	0													93.0	97.0	95.0					5																	34945078		2203	4300	6503	SO:0001583	missense	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1090A>C	5.37:g.34945078A>C	ENSP00000343728:p.Asn364His		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.N364H	ENST00000342382.4	37	c.1090	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360595	0.61403	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.45276	0.9;0.91;0.92	6.07	4.92	0.64577	.	0.289993	0.43260	D	0.000596	T	0.56352	0.1979	M	0.62723	1.935	0.30731	N	0.747267	D;D;D	0.89917	0.995;0.98;1.0	D;P;D	0.78314	0.94;0.641;0.991	T	0.57854	-0.7739	10	0.27785	T	0.31	-33.1516	8.9252	0.35637	0.7972:0.0:0.2028:0.0	.	364;364;364	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	H	364	ENSP00000343728:N364H;ENSP00000371451:N364H;ENSP00000306289:N364H	ENSP00000306289:N364H	N	+	1	0	DNAJC21	34980835	0.297000	0.24408	0.974000	0.42286	0.899000	0.52679	0.721000	0.25911	1.122000	0.41944	0.533000	0.62120	AAT	DNAJC21	-	NULL		0.358	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	A	NM_194283		34945078	+1	no_errors	ENST00000382021	ensembl	human	known	70_37	missense	SNP	0.985	C
DNAJC6	9829	genome.wustl.edu	37	1	65831606	65831606	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:65831606C>A	ENST00000395325.3	+	3	369	c.212C>A	c.(211-213)tCc>tAc	p.S71Y	DNAJC6_ENST00000263441.7_Missense_Mutation_p.S58Y|DNAJC6_ENST00000371069.4_Missense_Mutation_p.S128Y	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	71	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TATGTTACCTCCAGAATTATT	0.368																																																	0													224.0	221.0	222.0					1																	65831606		2203	4300	6503	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.212C>A	1.37:g.65831606C>A	ENSP00000378735:p.Ser71Tyr		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.S128Y	ENST00000395325.3	37	c.383	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634985	0.87760	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.98732	-5.1;-5.1;-5.1	5.44	5.44	0.79542	Phosphatase tensin type (1);	0.060815	0.64402	D	0.000002	D	0.99233	0.9733	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99764	1.1022	10	0.87932	D	0	.	19.2661	0.93985	0.0:1.0:0.0:0.0	.	128;71;58	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	Y	58;71;128	ENSP00000263441:S58Y;ENSP00000378735:S71Y;ENSP00000360108:S128Y	ENSP00000263441:S58Y	S	+	2	0	DNAJC6	65604194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.507000	0.73717	2.555000	0.86185	0.557000	0.71058	TCC	DNAJC6	-	pfscan_Phosphatase_tensin-typ		0.368	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	C			65831606	+1	no_errors	ENST00000371069	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAJC6	9829	genome.wustl.edu	37	1	65878639	65878639	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:65878639G>T	ENST00000395325.3	+	19	2830	c.2673G>T	c.(2671-2673)aaG>aaT	p.K891N	DNAJC6_ENST00000263441.7_Missense_Mutation_p.K878N|RNU2-15P_ENST00000410692.1_RNA|DNAJC6_ENST00000371069.4_Missense_Mutation_p.K948N	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	891	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AATACGCAAAGATGATTTTCA	0.368																																																	0													169.0	172.0	171.0					1																	65878639		2203	4300	6503	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2673G>T	1.37:g.65878639G>T	ENSP00000378735:p.Lys891Asn		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.K948N	ENST00000395325.3	37	c.2844	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598775	0.66332	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	T;T;T	0.22743	1.94;1.94;1.94	5.76	4.85	0.62838	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	L	0.35288	1.05	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.993;0.996	T	0.03051	-1.1078	10	0.52906	T	0.07	.	9.4202	0.38546	0.2124:0.0:0.7876:0.0	.	948;891	O75061-2;O75061	.;AUXI_HUMAN	N	878;891;948	ENSP00000263441:K878N;ENSP00000378735:K891N;ENSP00000360108:K948N	ENSP00000263441:K878N	K	+	3	2	DNAJC6	65651227	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	6.433000	0.73404	1.575000	0.49775	-0.136000	0.14681	AAG	DNAJC6	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N		0.368	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	G			65878639	+1	no_errors	ENST00000371069	ensembl	human	known	70_37	missense	SNP	1.000	T
DNMT1	1786	genome.wustl.edu	37	19	10265036	10265036	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:10265036T>G	ENST00000340748.4	-	21	2139	c.1904A>C	c.(1903-1905)cAa>cCa	p.Q635P	DNMT1_ENST00000359526.4_Missense_Mutation_p.Q651P|DNMT1_ENST00000540357.1_Missense_Mutation_p.Q635P			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	635					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTTTTCAATTTGCTCTGCGAA	0.547																																																	0													162.0	165.0	164.0					19																	10265036		2203	4300	6503	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1904A>C	19.37:g.10265036T>G	ENSP00000345739:p.Gln635Pro		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.Q651P	ENST00000340748.4	37	c.1952	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736269	0.89482	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.30182	1.71;1.54;1.54	6.07	6.07	0.98685	.	0.110094	0.64402	D	0.000006	T	0.53367	0.1792	M	0.73217	2.22	0.58432	D	0.999995	D;D;D	0.62365	0.991;0.991;0.985	D;D;P	0.63283	0.913;0.913;0.821	T	0.55211	-0.8176	10	0.62326	D	0.03	.	15.6232	0.76824	0.0:0.0:0.0:1.0	.	635;651;635	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	P	651;635;635;503	ENSP00000352516:Q651P;ENSP00000440457:Q635P;ENSP00000345739:Q635P	ENSP00000345739:Q635P	Q	-	2	0	DNMT1	10126036	1.000000	0.71417	0.876000	0.34364	0.694000	0.40290	7.982000	0.88131	2.326000	0.78906	0.533000	0.62120	CAA	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk		0.547	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	T	NM_001379		10265036	-1	no_errors	ENST00000359526	ensembl	human	known	70_37	missense	SNP	1.000	G
DOC2B	8447	genome.wustl.edu	37	17	6018	6018	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:6018C>T	ENST00000343572.7	-	6	1072	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	AC108004.5_ENST00000583926.1_RNA	NM_003585.3	NP_003576	Q14184	DOC2B_HUMAN	double C2-like domains, beta	306	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Mediates interaction with STXBP3. {ECO:0000250}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion (GO:0032024)|positive regulation of vesicle fusion (GO:0031340)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			endometrium(2)|ovary(1)	3						CACGTTTTCACGTAGGGGTCC	0.662																																																	0													65.0	78.0	74.0					17																	6018		692	1591	2283	SO:0001583	missense	8447			D70830	CCDS73934.1	17p13.3	2014-07-16			ENSG00000272636	ENSG00000272636		"""Synaptotagmins"""	2986	protein-coding gene	gene with protein product		604568	"""double C2-like domains, beta-like"""	DOC2BL		7826360	Standard	NM_003585		Approved		uc010vpx.1	Q14184	OTTHUMG00000154415	ENST00000343572.7:c.916G>A	17.37:g.6018C>T	ENSP00000343665:p.Val306Met			Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.V306M	ENST00000343572.7	37	c.916		17	.	.	.	.	.	.	.	.	.	.	C	30	5.053974	0.93793	.	.	ENSG00000187939	ENST00000343572;ENST00000496357	T;T	0.24350	1.86;1.86	4.93	4.93	0.64822	.	0.000000	0.40144	U	0.001178	T	0.53769	0.1817	.	.	.	.	.	.	D	0.89917	1.0	D	0.91635	0.999	T	0.60900	-0.7171	8	0.87932	D	0	.	17.2959	0.87170	0.0:1.0:0.0:0.0	.	306	F5H0A2	.	M	306	ENSP00000343665:V306M;ENSP00000417238:V306M	ENSP00000343665:V306M	V	-	1	0	DOC2B	6018	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.195000	0.77798	2.550000	0.86006	0.561000	0.74099	GTG	DOC2B	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB		0.662	DOC2B-001	KNOWN	basic|appris_principal	protein_coding	DOC2B	HGNC	protein_coding	OTTHUMT00000335122.3	C	NM_003585		6018	-1	no_errors	ENST00000343572	ensembl	human	known	70_37	missense	SNP	1.000	T
DOCK1	1793	genome.wustl.edu	37	10	128788832	128788832	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:128788832G>T	ENST00000280333.6	+	6	547	c.438G>T	c.(436-438)aaG>aaT	p.K146N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	146					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AAGAACTGAAGAAGAAGGTCA	0.358																																																	0													105.0	99.0	101.0					10																	128788832		1892	4128	6020	SO:0001583	missense	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.438G>T	10.37:g.128788832G>T	ENSP00000280333:p.Lys146Asn		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.K146N	ENST00000280333.6	37	c.438		10	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482938	0.63962	.	.	ENSG00000150760	ENST00000280333	T	0.59083	0.29	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.90082	3.085	0.54753	D	0.999987	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.954	T	0.78396	-0.2220	10	0.87932	D	0	.	5.5834	0.17262	0.2425:0.0:0.7575:0.0	.	146;146	B2RUU3;Q14185	.;DOCK1_HUMAN	N	146	ENSP00000280333:K146N	ENSP00000280333:K146N	K	+	3	2	DOCK1	128678822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.795000	0.47861	2.510000	0.84645	0.555000	0.69702	AAG	DOCK1	-	NULL		0.358	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	G	NM_001380		128788832	+1	no_errors	ENST00000280333	ensembl	human	known	70_37	missense	SNP	1.000	T
DOCK10	55619	genome.wustl.edu	37	2	225670166	225670166	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:225670166T>C	ENST00000258390.7	-	35	3962	c.3895A>G	c.(3895-3897)Acc>Gcc	p.T1299A	DOCK10_ENST00000409592.3_Missense_Mutation_p.T1293A	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1299					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTCTCATTGGTACTTGGATTG	0.433																																																	0													161.0	156.0	158.0					2																	225670166		2098	4223	6321	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3895A>G	2.37:g.225670166T>C	ENSP00000258390:p.Thr1299Ala		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T1299A	ENST00000258390.7	37	c.3895	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	T	12.75	2.032985	0.35893	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.19250	2.16;2.17	5.74	4.57	0.56435	.	0.092996	0.64402	D	0.000001	T	0.17365	0.0417	L	0.55481	1.735	0.39549	D	0.968949	B;B;B	0.30406	0.113;0.278;0.113	B;B;B	0.22386	0.03;0.039;0.03	T	0.03662	-1.1015	10	0.07990	T	0.79	.	12.5921	0.56449	0.1244:0.0:0.0:0.8756	.	1299;153;1293	Q96BY6;B4DF07;B3FL70	DOC10_HUMAN;.;.	A	1293;1299	ENSP00000386694:T1293A;ENSP00000258390:T1299A	ENSP00000258390:T1299A	T	-	1	0	DOCK10	225378410	1.000000	0.71417	0.815000	0.32552	0.983000	0.72400	7.432000	0.80349	1.095000	0.41419	0.459000	0.35465	ACC	DOCK10	-	superfamily_ARM-type_fold		0.433	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	T			225670166	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK11	139818	genome.wustl.edu	37	X	117809942	117809942	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:117809942A>C	ENST00000276202.7	+	47	5306	c.5243A>C	c.(5242-5244)aAa>aCa	p.K1748T	DOCK11_ENST00000276204.6_Missense_Mutation_p.K1748T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1748	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCTTACACAAAAATTCTGGAA	0.299																																																	0													40.0	39.0	39.0					X																	117809942		2202	4294	6496	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5243A>C	X.37:g.117809942A>C	ENSP00000276202:p.Lys1748Thr		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K1748T	ENST00000276202.7	37	c.5243	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325545	0.81580	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.22336	1.97;1.96	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52472	-0.8571	10	0.56958	D	0.05	-14.4897	13.81	0.63256	1.0:0.0:0.0:0.0	.	1748;1748	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	1748	ENSP00000276204:K1748T;ENSP00000276202:K1748T	ENSP00000276202:K1748T	K	+	2	0	DOCK11	117693970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.918000	0.92759	1.857000	0.53885	0.486000	0.48141	AAA	DOCK11	-	NULL		0.299	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	A	NM_144658		117809942	+1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK2	1794	genome.wustl.edu	37	5	169461438	169461438	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:169461438C>T	ENST00000256935.8	+	35	3583	c.3503C>T	c.(3502-3504)gCc>gTc	p.A1168V	DOCK2_ENST00000540750.1_Missense_Mutation_p.A229V|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.A660V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1168	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAACCATTGCCAAGTCGGTG	0.577																																																	0													101.0	96.0	98.0					5																	169461438		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3503C>T	5.37:g.169461438C>T	ENSP00000256935:p.Ala1168Val		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.A1168V	ENST00000256935.8	37	c.3503	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	9.284	1.048872	0.19827	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.42513	0.97;0.97;0.97	5.63	3.78	0.43462	.	0.800290	0.12107	N	0.498921	T	0.33381	0.0861	L	0.56769	1.78	0.32327	N	0.561667	B;B	0.17038	0.02;0.006	B;B	0.14023	0.01;0.01	T	0.36578	-0.9742	10	0.17832	T	0.49	.	3.2176	0.06704	0.1421:0.565:0.1374:0.1554	.	660;1168	E7ERW7;Q92608	.;DOCK2_HUMAN	V	1168;660;229	ENSP00000256935:A1168V;ENSP00000429283:A660V;ENSP00000438827:A229V	ENSP00000256935:A1168V	A	+	2	0	DOCK2	169394016	0.137000	0.22531	0.904000	0.35570	0.392000	0.30506	0.514000	0.22786	0.676000	0.31285	0.655000	0.94253	GCC	DOCK2	-	superfamily_ARM-type_fold		0.577	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	C	NM_004946		169461438	+1	no_errors	ENST00000256935	ensembl	human	known	70_37	missense	SNP	0.944	T
DOCK2	1794	genome.wustl.edu	37	5	169472857	169472857	+	Missense_Mutation	SNP	C	C	T	rs370316549		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:169472857C>T	ENST00000256935.8	+	39	3994	c.3914C>T	c.(3913-3915)gCg>gTg	p.A1305V	DOCK2_ENST00000540750.1_Missense_Mutation_p.A366V|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.A797V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1305	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.A1305V(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGGAGCTGGCGGAACAGTAC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20836	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)						C	VAL/ALA	0,4406		0,0,2203	185.0	164.0	171.0		3914	5.2	0.9	5		171	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOCK2	NM_004946.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1305/1831	169472857	1,13005	2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3914C>T	5.37:g.169472857C>T	ENSP00000256935:p.Ala1305Val		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.A1305V	ENST00000256935.8	37	c.3914	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669958	0.67814	0.0	1.16E-4	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.67698	-0.28;-0.28;4.59	5.15	5.15	0.70609	.	0.059605	0.64402	D	0.000003	T	0.54791	0.1880	L	0.55834	1.745	0.50171	D	0.999853	D;B	0.53885	0.963;0.35	B;B	0.25614	0.062;0.013	T	0.61860	-0.6976	10	0.29301	T	0.29	.	18.629	0.91352	0.0:1.0:0.0:0.0	.	797;1305	E7ERW7;Q92608	.;DOCK2_HUMAN	V	1305;797;366	ENSP00000256935:A1305V;ENSP00000429283:A797V;ENSP00000438827:A366V	ENSP00000256935:A1305V	A	+	2	0	DOCK2	169405435	1.000000	0.71417	0.948000	0.38648	0.885000	0.51271	4.878000	0.63093	2.379000	0.81126	0.561000	0.74099	GCG	DOCK2	-	NULL		0.567	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	C	NM_004946		169472857	+1	no_errors	ENST00000256935	ensembl	human	known	70_37	missense	SNP	0.999	T
DOCK3	1795	genome.wustl.edu	37	3	51251661	51251661	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:51251661C>A	ENST00000266037.9	+	14	1258	c.1235C>A	c.(1234-1236)cCt>cAt	p.P412H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	412					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTGGGATTTCCTGATGTCATT	0.463																																																	0													64.0	63.0	63.0					3																	51251661		1894	4118	6012	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1235C>A	3.37:g.51251661C>A	ENSP00000266037:p.Pro412His		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.P412H	ENST00000266037.9	37	c.1235	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474982	0.84640	.	.	ENSG00000088538	ENST00000266037	T	0.08193	3.12	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	M	0.87269	2.87	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.24261	-1.0165	10	0.66056	D	0.02	.	19.4352	0.94788	0.0:1.0:0.0:0.0	.	412	Q8IZD9	DOCK3_HUMAN	H	412	ENSP00000266037:P412H	ENSP00000266037:P412H	P	+	2	0	DOCK3	51226701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.278000	0.78587	2.668000	0.90789	0.655000	0.94253	CCT	DOCK3	-	NULL		0.463	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	C	NM_004947		51251661	+1	no_errors	ENST00000266037	ensembl	human	known	70_37	missense	SNP	1.000	A
DOCK5	80005	genome.wustl.edu	37	8	25156598	25156598	+	Missense_Mutation	SNP	G	G	T	rs138086965		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:25156598G>T	ENST00000276440.7	+	8	789	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	DOCK5_ENST00000481100.1_Missense_Mutation_p.D249Y	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	249					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTACGACCCAGACCAGTCCAC	0.522																																					Pancreas(145;34 1887 3271 10937 30165)												0													91.0	77.0	81.0					8																	25156598		2203	4300	6503	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.745G>T	8.37:g.25156598G>T	ENSP00000276440:p.Asp249Tyr		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.D249Y	ENST00000276440.7	37	c.745	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.53|17.53	3.412391|3.412391	0.62511|0.62511	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000481100;ENST00000276440|ENST00000444569	T;T|.	0.43688|.	0.94;0.94|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71143|0.71143	0.3305|0.3305	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	B|.	0.30526|.	0.283|.	B|.	0.31191|.	0.125|.	T|T	0.68021|0.68021	-0.5519|-0.5519	10|5	0.66056|.	D|.	0.02|.	.|.	18.691|18.691	0.91582|0.91582	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	249|.	Q9H7D0|.	DOCK5_HUMAN|.	Y|H	249|47	ENSP00000429737:D249Y;ENSP00000276440:D249Y|.	ENSP00000276440:D249Y|.	D|Q	+|+	1|3	0|2	DOCK5|DOCK5	25212515|25212515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	6.398000|6.398000	0.73244|0.73244	2.639000|2.639000	0.89480|0.89480	0.555000|0.555000	0.69702|0.69702	GAC|CAG	DOCK5	-	NULL		0.522	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	G	NM_024940		25156598	+1	no_errors	ENST00000276440	ensembl	human	known	70_37	missense	SNP	1.000	T
DOCK5	80005	genome.wustl.edu	37	8	25226173	25226173	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:25226173A>G	ENST00000276440.7	+	33	3414	c.3370A>G	c.(3370-3372)Aca>Gca	p.T1124A		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1124					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCGGAAAGCCACAATCCCCAT	0.443																																					Pancreas(145;34 1887 3271 10937 30165)												0													73.0	72.0	72.0					8																	25226173		2203	4300	6503	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3370A>G	8.37:g.25226173A>G	ENSP00000276440:p.Thr1124Ala		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.T1124A	ENST00000276440.7	37	c.3370	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.1|29.1	4.977291|4.977291	0.92982|0.92982	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.60299	.|0.2	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70228|0.70228	0.3200|0.3200	M|M	0.72576|0.72576	2.205|2.205	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.51653	.|0.947;0.947;0.947	.|P;P;P	.|0.54401	.|0.751;0.677;0.751	T|T	0.74103|0.74103	-0.3773|-0.3773	5|10	.|0.72032	.|D	.|0.01	.|.	16.1467|16.1467	0.81577|0.81577	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1114;899;1124	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	R|A	895|1124	.|ENSP00000276440:T1124A	.|ENSP00000276440:T1124A	H|T	+|+	2|1	0|0	DOCK5|DOCK5	25282090|25282090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.123000|6.123000	0.71614|0.71614	2.212000|2.212000	0.71576|0.71576	0.533000|0.533000	0.62120|0.62120	CAC|ACA	DOCK5	-	superfamily_ARM-type_fold		0.443	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	A	NM_024940		25226173	+1	no_errors	ENST00000276440	ensembl	human	known	70_37	missense	SNP	1.000	G
DOCK5	80005	genome.wustl.edu	37	8	25227100	25227100	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:25227100A>G	ENST00000276440.7	+	34	3511	c.3467A>G	c.(3466-3468)gAc>gGc	p.D1156G		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1156					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACAAAGCTGGACCAGGAGGTA	0.433																																					Pancreas(145;34 1887 3271 10937 30165)												0													82.0	66.0	71.0					8																	25227100		2203	4299	6502	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3467A>G	8.37:g.25227100A>G	ENSP00000276440:p.Asp1156Gly		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.D1156G	ENST00000276440.7	37	c.3467	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	A	28.5	4.922547	0.92319	.	.	ENSG00000147459	ENST00000276440	T	0.29397	1.57	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.91717	3.235	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	0.73956	-0.3819	10	0.87932	D	0	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	1146;931;1156	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	G	1156	ENSP00000276440:D1156G	ENSP00000276440:D1156G	D	+	2	0	DOCK5	25283017	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.231000	0.72958	0.460000	0.39030	GAC	DOCK5	-	superfamily_ARM-type_fold		0.433	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	A	NM_024940		25227100	+1	no_errors	ENST00000276440	ensembl	human	known	70_37	missense	SNP	1.000	G
DOCK8	81704	genome.wustl.edu	37	9	414881	414881	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:414881A>C	ENST00000453981.1	+	29	3742	c.3630A>C	c.(3628-3630)aaA>aaC	p.K1210N	DOCK8_ENST00000432829.2_Missense_Mutation_p.K1142N|DOCK8_ENST00000469391.1_Missense_Mutation_p.K1110N|DOCK8_ENST00000382329.1_Missense_Mutation_p.K677N			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1210					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAAGGTCAAAATCGCCGCCC	0.468																																																	0													234.0	216.0	222.0					9																	414881		2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3630A>C	9.37:g.414881A>C	ENSP00000408464:p.Lys1210Asn		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.K1210N	ENST00000453981.1	37	c.3630	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878033	0.72294	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.17213	2.51;2.51;2.52;2.29	6.02	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	M	0.74881	2.28	0.53688	D	0.999979	P;P;P	0.42649	0.645;0.645;0.786	B;P;P	0.49752	0.368;0.468;0.621	T	0.02020	-1.1228	10	0.66056	D	0.02	.	10.1528	0.42805	0.8663:0.0:0.1337:0.0	.	1110;677;1210	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	N	1210;1178;1142;1110;677	ENSP00000408464:K1210N;ENSP00000394888:K1142N;ENSP00000419438:K1110N;ENSP00000371766:K677N	ENSP00000287364:K1178N	K	+	3	2	DOCK8	404881	1.000000	0.71417	0.800000	0.32199	0.974000	0.67602	1.926000	0.40084	0.532000	0.28657	0.533000	0.62120	AAA	DOCK8	-	NULL		0.468	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	A	XM_036307		414881	+1	no_errors	ENST00000453981	ensembl	human	known	70_37	missense	SNP	0.981	C
DOCK8	81704	genome.wustl.edu	37	9	465199	465199	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:465199T>G	ENST00000453981.1	+	0	7392				DOCK8_ENST00000432829.2_3'UTR|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|DOCK8_ENST00000382329.1_3'UTR|RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000608617.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ttatatatttttaatatGACT	0.284																																																	0																																										SO:0001624	3_prime_UTR_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.*980T>G	9.37:g.465199T>G			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	RNA	SNP	-	NULL	ENST00000453981.1	37	NULL	CCDS6440.2	9																																																																																			DOCK8	-	-		0.284	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	T	XM_036307		465199	+1	no_errors	ENST00000462618	ensembl	human	known	70_37	rna	SNP	1.000	G
DOCK9	23348	genome.wustl.edu	37	13	99446896	99446896	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:99446896G>A	ENST00000339416.2	-	54	6320	c.6266C>T	c.(6265-6267)tCg>tTg	p.S2089L	DOCK9_ENST00000376460.1_3'UTR			Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACCGAAGACGAGCTGGTCAT	0.527																																																	0																																										SO:0001583	missense	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000339416.2:c.6266C>T	13.37:g.99446896G>A	ENSP00000341086:p.Ser2089Leu		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S2089L	ENST00000339416.2	37	c.6266		13	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402192	0.83230	.	.	ENSG00000088387	ENST00000339416;ENST00000376453	T	0.15372	2.43	5.63	5.63	0.86233	.	.	.	.	.	T	0.41488	0.1161	.	.	.	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.993;0.976	P;P;P;B	0.61201	0.787;0.885;0.46;0.32	T	0.24728	-1.0152	8	0.72032	D	0.01	.	17.8901	0.88869	0.0:0.0:1.0:0.0	.	808;721;758;720	B7Z6H5;B7Z2J2;B7Z6G9;F5H1Q4	.;.;.;.	L	2089;720	ENSP00000341086:S2089L	ENSP00000341086:S2089L	S	-	2	0	DOCK9	98244897	1.000000	0.71417	0.996000	0.52242	0.828000	0.46876	9.230000	0.95299	2.652000	0.90054	0.655000	0.94253	TCG	DOCK9	-	NULL		0.527	DOCK9-201	KNOWN	basic	protein_coding	DOCK9	HGNC	protein_coding		G	NM_015296		99446896	-1	no_errors	ENST00000339416	ensembl	human	known	70_37	missense	SNP	1.000	A
DOPEY1	23033	genome.wustl.edu	37	6	83829520	83829520	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:83829520C>T	ENST00000349129.2	+	9	1194	c.934C>T	c.(934-936)Cct>Tct	p.P312S	DOPEY1_ENST00000369739.3_Missense_Mutation_p.P303S|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.P303S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	312					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACACAGTAATCCTGAAGAACA	0.333																																																	0													162.0	153.0	156.0					6																	83829520		2203	4300	6503	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.934C>T	6.37:g.83829520C>T	ENSP00000195654:p.Pro312Ser		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.P312S	ENST00000349129.2	37	c.934	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397788	0.62177	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.24538	1.97;1.86;1.85	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.25494	0.0620	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.02781	-1.1111	10	0.07813	T	0.8	.	17.5333	0.87820	0.0:1.0:0.0:0.0	.	303;312	B2RWN9;Q5JWR5	.;DOP1_HUMAN	S	312;303;303	ENSP00000195654:P312S;ENSP00000237163:P303S;ENSP00000358754:P303S	ENSP00000237163:P303S	P	+	1	0	DOPEY1	83886239	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.356000	0.79445	2.214000	0.71695	0.650000	0.86243	CCT	DOPEY1	-	superfamily_ARM-type_fold		0.333	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	C	NM_015018		83829520	+1	no_errors	ENST00000349129	ensembl	human	known	70_37	missense	SNP	1.000	T
DOPEY2	9980	genome.wustl.edu	37	21	37635876	37635876	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:37635876C>A	ENST00000399151.3	+	25	5433	c.5348C>A	c.(5347-5349)tCt>tAt	p.S1783Y		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1783					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGAACTTTTCTTCACTGTTG	0.383																																																	0													89.0	89.0	89.0					21																	37635876		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5348C>A	21.37:g.37635876C>A	ENSP00000382104:p.Ser1783Tyr		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.S1783Y	ENST00000399151.3	37	c.5348	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	C	9.111	1.006554	0.19199	.	.	ENSG00000142197	ENST00000399151	T	0.67865	-0.29	5.83	3.04	0.35103	.	0.461817	0.24841	N	0.035167	T	0.48642	0.1511	L	0.32530	0.975	0.09310	N	1	B;B	0.20459	0.045;0.027	B;B	0.15484	0.013;0.006	T	0.45056	-0.9287	10	0.66056	D	0.02	.	2.3061	0.04174	0.2373:0.4891:0.1183:0.1553	.	1783;1783	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	Y	1783	ENSP00000382104:S1783Y	ENSP00000382104:S1783Y	S	+	2	0	DOPEY2	36557746	0.000000	0.05858	0.001000	0.08648	0.467000	0.32768	1.077000	0.30741	0.375000	0.24679	0.650000	0.86243	TCT	DOPEY2	-	NULL		0.383	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	C	NM_005128		37635876	+1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.001	A
DOPEY2	9980	genome.wustl.edu	37	21	37665628	37665628	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:37665628G>A	ENST00000399151.3	+	37	6741	c.6656G>A	c.(6655-6657)aGc>aAc	p.S2219N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2219					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAAATCAGTAGCTCTGATGAG	0.443																																																	0													73.0	71.0	72.0					21																	37665628		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6656G>A	21.37:g.37665628G>A	ENSP00000382104:p.Ser2219Asn		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.S2219N	ENST00000399151.3	37	c.6656	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179024	0.38511	.	.	ENSG00000142197	ENST00000399151	T	0.45668	0.89	5.62	3.8	0.43715	.	0.377447	0.31989	N	0.006758	T	0.27063	0.0663	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16988	-1.0384	10	0.22706	T	0.39	-26.0384	2.801	0.05414	0.1565:0.1453:0.5476:0.1506	.	2212;2219	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	N	2219	ENSP00000382104:S2219N	ENSP00000382104:S2219N	S	+	2	0	DOPEY2	36587498	0.000000	0.05858	0.007000	0.13788	0.675000	0.39556	0.080000	0.14802	0.716000	0.32124	0.655000	0.94253	AGC	DOPEY2	-	NULL		0.443	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37665628	+1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.000	A
DPP4	1803	genome.wustl.edu	37	2	162929996	162929996	+	Splice_Site	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:162929996T>C	ENST00000360534.3	-	2	567	c.7A>G	c.(7-9)Aca>Gca	p.T3A	AC008063.2_ENST00000418335.1_RNA	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	3					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TTCCACGGTGTCTGCAAGCCG	0.572																																																	0													59.0	57.0	58.0					2																	162929996		2203	4300	6503	SO:0001630	splice_region_variant	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.7-1A>G	2.37:g.162929996T>C			Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.T3A	ENST00000360534.3	37	c.7	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	T	14.83	2.653260	0.47362	.	.	ENSG00000197635	ENST00000360534	T	0.21361	2.01	4.75	3.61	0.41365	.	0.893166	0.09889	N	0.742575	T	0.21145	0.0509	L	0.60455	1.87	0.34915	D	0.747847	B	0.14012	0.009	B	0.10450	0.005	T	0.19877	-1.0292	10	0.41790	T	0.15	.	6.5004	0.22166	0.0:0.1062:0.0:0.8938	.	3	P27487	DPP4_HUMAN	A	3	ENSP00000353731:T3A	ENSP00000353731:T3A	T	-	1	0	DPP4	162638242	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	1.947000	0.40293	2.103000	0.63969	0.528000	0.53228	ACA	DPP4	-	NULL		0.572	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	T		Missense_Mutation	162929996	-1	no_errors	ENST00000360534	ensembl	human	known	70_37	missense	SNP	0.995	C
DPPA3P2	400206	genome.wustl.edu	37	14	36841205	36841205	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:36841205C>A	ENST00000557188.1	+	0	836									developmental pluripotency associated 3 pseudogene 2																		ATAATGAGTTCTAGGATGTAT	0.299																																																	0																																												400206					14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36841205C>A				RNA	SNP	-	NULL	ENST00000557188.1	37	NULL		14																																																																																			DPPA3P2	-	-		0.299	DPPA3P2-002	KNOWN	basic	processed_transcript	DPPA3P2	HGNC	pseudogene	OTTHUMT00000410122.1	C			36841205	+1	no_errors	ENST00000557188	ensembl	human	known	70_37	rna	SNP	0.050	A
DPRX	503834	genome.wustl.edu	37	19	54137881	54137881	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:54137881A>C	ENST00000376650.1	+	2	176	c.125A>C	c.(124-126)aAc>aCc	p.N42T		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	42					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CCATACCCAAACCCCAGCCTT	0.448																																																	0													131.0	114.0	120.0					19																	54137881		2203	4300	6503	SO:0001583	missense	503834				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.125A>C	19.37:g.54137881A>C	ENSP00000365838:p.Asn42Thr			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.N42T	ENST00000376650.1	37	c.125	CCDS33103.1	19	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813732	0.32053	.	.	ENSG00000204595	ENST00000376650	D	0.95307	-3.67	1.73	-2.24	0.06909	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.83198	0.5202	N	0.10782	0.045	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.69917	-0.5015	9	0.36615	T	0.2	.	0.1509	0.00093	0.3549:0.2399:0.1696:0.2357	.	42	A6NFQ7	DPRX_HUMAN	T	42	ENSP00000365838:N42T	ENSP00000365838:N42T	N	+	2	0	DPRX	58829693	0.000000	0.05858	0.004000	0.12327	0.959000	0.62525	-2.864000	0.00724	-0.793000	0.04475	0.454000	0.30748	AAC	DPRX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.448	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPRX	HGNC	protein_coding	OTTHUMT00000409880.1	A	NM_001012728		54137881	+1	no_errors	ENST00000376650	ensembl	human	known	70_37	missense	SNP	0.005	C
DPY19L2	283417	genome.wustl.edu	37	12	64061950	64061950	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:64061950T>G	ENST00000324472.4	-	1	407	c.224A>C	c.(223-225)aAg>aCg	p.K75T	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	75					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAGAAAGGTCTTGGCCACCAC	0.617																																																	0													74.0	82.0	79.0					12																	64061950		2203	4300	6503	SO:0001583	missense	283417				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.224A>C	12.37:g.64061950T>G	ENSP00000315988:p.Lys75Thr		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	pfam_Dpy-19	p.K75T	ENST00000324472.4	37	c.224	CCDS31851.1	12	.	.	.	.	.	.	.	.	.	.	T	2.241	-0.373845	0.05034	.	.	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.53206	0.63;1.06	1.61	-2.15	0.07102	.	.	.	.	.	T	0.29223	0.0727	L	0.32530	0.975	0.09310	N	0.999997	B	0.23735	0.09	B	0.19148	0.024	T	0.17715	-1.0360	8	.	.	.	.	5.3515	0.16038	0.0:0.3675:0.0:0.6325	.	75	Q6NUT2	D19L2_HUMAN	T	75	ENSP00000315988:K75T;ENSP00000444932:K75T	.	K	-	2	0	DPY19L2	62348217	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.871000	0.01640	-0.649000	0.05430	0.164000	0.16699	AAG	DPY19L2	-	NULL		0.617	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2	T	NM_173812		64061950	-1	no_errors	ENST00000324472	ensembl	human	known	70_37	missense	SNP	0.000	G
DPYS	1807	genome.wustl.edu	37	8	105456635	105456635	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:105456635T>C	ENST00000351513.2	-	4	766	c.634A>G	c.(634-636)Aca>Gca	p.T212A		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	212					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCAGGGCCTGTTATCCCCAGA	0.507																																																	0													58.0	56.0	57.0					8																	105456635		2203	4300	6503	SO:0001583	missense	1807			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.634A>G	8.37:g.105456635T>C	ENSP00000276651:p.Thr212Ala			Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.T212A	ENST00000351513.2	37	c.634	CCDS6302.1	8	.	.	.	.	.	.	.	.	.	.	T	28.2	4.895593	0.91962	.	.	ENSG00000147647	ENST00000351513	D	0.89746	-2.56	5.67	5.67	0.87782	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	M	0.86178	2.8	0.58432	D	0.999996	P	0.41673	0.759	P	0.48425	0.577	D	0.93723	0.7034	10	0.87932	D	0	-24.8678	15.9141	0.79496	0.0:0.0:0.0:1.0	.	212	Q14117	DPYS_HUMAN	A	212	ENSP00000276651:T212A	ENSP00000276651:T212A	T	-	1	0	DPYS	105525811	1.000000	0.71417	0.922000	0.36590	0.988000	0.76386	7.543000	0.82106	2.154000	0.67381	0.533000	0.62120	ACA	DPYS	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase		0.507	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	HGNC	protein_coding	OTTHUMT00000380814.1	T	NM_001385		105456635	-1	no_errors	ENST00000351513	ensembl	human	known	70_37	missense	SNP	1.000	C
DRP2	1821	genome.wustl.edu	37	X	100510235	100510235	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100510235G>T	ENST00000395209.3	+	20	2770	c.2243G>T	c.(2242-2244)aGc>aTc	p.S748I	DRP2_ENST00000541709.1_Missense_Mutation_p.S670I|DRP2_ENST00000538510.1_Missense_Mutation_p.S748I|DRP2_ENST00000402866.1_Missense_Mutation_p.S748I	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	748					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCAGATGACAGCATGTGAGTT	0.458																																																	0													151.0	128.0	136.0					X																	100510235		2203	4300	6503	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2243G>T	X.37:g.100510235G>T	ENSP00000378635:p.Ser748Ile		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.S748I	ENST00000395209.3	37	c.2243	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769193	0.69992	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.09	5.09	0.68999	.	0.085098	0.85682	D	0.000000	D	0.92008	0.7468	M	0.74389	2.26	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.92782	0.6241	10	0.66056	D	0.02	-0.7122	17.2308	0.86984	0.0:0.0:1.0:0.0	.	748	Q13474	DRP2_HUMAN	I	748;748;670;748	ENSP00000385038:S748I;ENSP00000378635:S748I;ENSP00000444752:S670I;ENSP00000441051:S748I	ENSP00000378635:S748I	S	+	2	0	DRP2	100396891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.588000	0.98232	2.356000	0.79943	0.529000	0.55759	AGC	DRP2	-	pirsf_Dystrophin-related_2		0.458	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	G	NM_001939		100510235	+1	no_errors	ENST00000395209	ensembl	human	known	70_37	missense	SNP	1.000	T
DSC2	1824	genome.wustl.edu	37	18	28669412	28669412	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:28669412T>G	ENST00000280904.6	-	5	1063	c.620A>C	c.(619-621)gAa>gCa	p.E207A	DSC2_ENST00000251081.6_Missense_Mutation_p.E207A	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	207	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTCAAAAGATTCATACTGCTC	0.393																																																	0													93.0	89.0	90.0					18																	28669412		2203	4300	6503	SO:0001583	missense	1824			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.620A>C	18.37:g.28669412T>G	ENSP00000280904:p.Glu207Ala			Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin	p.E207A	ENST00000280904.6	37	c.620	CCDS11892.1	18	.	.	.	.	.	.	.	.	.	.	T	5.404	0.259711	0.10239	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.60548	0.18;0.18	6.16	-1.2	0.09554	Cadherin (4);Cadherin-like (1);	1.297240	0.05969	N	0.642084	T	0.49966	0.1588	N	0.21097	0.63	0.09310	N	1	P;P	0.40553	0.635;0.721	B;B	0.39935	0.314;0.209	T	0.53872	-0.8377	10	0.37606	T	0.19	.	20.1103	0.97910	0.0:0.0:0.7448:0.2552	.	207;207	Q02487;Q02487-2	DSC2_HUMAN;.	A	207;207;220	ENSP00000251081:E207A;ENSP00000280904:E207A	ENSP00000251081:E207A	E	-	2	0	DSC2	26923410	0.197000	0.23362	0.005000	0.12908	0.079000	0.17450	1.159000	0.31749	-0.083000	0.12618	-0.323000	0.08544	GAA	DSC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.393	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC2	HGNC	protein_coding	OTTHUMT00000254943.1	T	NM_004949		28669412	-1	no_errors	ENST00000280904	ensembl	human	known	70_37	missense	SNP	0.012	G
DSEL	92126	genome.wustl.edu	37	18	65178949	65178949	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:65178949G>T	ENST00000310045.7	-	2	4400	c.2927C>A	c.(2926-2928)tCt>tAt	p.S976Y	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	966					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTCTGGCAAAGACTCTCTCCT	0.388																																																	0													47.0	53.0	51.0					18																	65178949		2188	4297	6485	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2927C>A	18.37:g.65178949G>T	ENSP00000310565:p.Ser976Tyr		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.S976Y	ENST00000310045.7	37	c.2927	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057076	0.55325	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.19532	2.14	5.17	5.17	0.71159	Sulfotransferase domain (1);	0.192963	0.34338	U	0.004047	T	0.36608	0.0973	L	0.51422	1.61	0.35839	D	0.825903	P	0.50710	0.938	P	0.55161	0.77	T	0.38351	-0.9665	10	0.51188	T	0.08	-22.4793	18.6816	0.91548	0.0:0.0:1.0:0.0	.	966	Q8IZU8	DSEL_HUMAN	Y	976;966	ENSP00000310565:S976Y	ENSP00000310565:S976Y	S	-	2	0	DSEL	63329929	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.234000	0.65343	2.403000	0.81681	0.563000	0.77884	TCT	DSEL	-	pfam_Sulfotransferase_dom		0.388	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	G	NM_032160		65178949	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	1.000	T
DSG1	1828	genome.wustl.edu	37	18	28911707	28911707	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:28911707G>A	ENST00000257192.4	+	6	773	c.561G>A	c.(559-561)ccG>ccA	p.P187P		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CAGATGAACCGAACAATTTGA	0.333																																																	0													80.0	74.0	76.0					18																	28911707		2203	4299	6502	SO:0001819	synonymous_variant	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.561G>A	18.37:g.28911707G>A			B7Z845	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin	p.P187	ENST00000257192.4	37	c.561	CCDS11896.1	18																																																																																			DSG1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.333	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	G	NM_001942		28911707	+1	no_errors	ENST00000257192	ensembl	human	known	70_37	silent	SNP	1.000	A
DSG3	1830	genome.wustl.edu	37	18	29040886	29040886	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:29040886G>T	ENST00000257189.4	+	7	858	c.775G>T	c.(775-777)Gat>Tat	p.D259Y		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	259	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			TAAAGTGAAAGATGTCAACGA	0.353																																																	0													98.0	88.0	91.0					18																	29040886		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.775G>T	18.37:g.29040886G>T	ENSP00000257189:p.Asp259Tyr		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.D259Y	ENST00000257189.4	37	c.775	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076604	0.76415	.	.	ENSG00000134757	ENST00000257189	T	0.67865	-0.29	5.34	5.34	0.76211	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.50627	D	0.000101	D	0.90501	0.7024	H	0.99545	4.62	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	D	0.94507	0.7715	10	0.87932	D	0	.	19.0065	0.92852	0.0:0.0:1.0:0.0	.	259	P32926	DSG3_HUMAN	Y	259	ENSP00000257189:D259Y	ENSP00000257189:D259Y	D	+	1	0	DSG3	27294884	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	6.321000	0.72881	2.651000	0.90000	0.585000	0.79938	GAT	DSG3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.353	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	G	NM_001944		29040886	+1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	1.000	T
DSEL	92126	genome.wustl.edu	37	18	65179459	65179459	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:65179459G>T	ENST00000310045.7	-	2	3890	c.2417C>A	c.(2416-2418)tCt>tAt	p.S806Y	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	796					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTTCTAAAAGAAAGGTAAAA	0.338																																																	0													49.0	51.0	51.0					18																	65179459		2203	4300	6503	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2417C>A	18.37:g.65179459G>T	ENSP00000310565:p.Ser806Tyr		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.S806Y	ENST00000310045.7	37	c.2417	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778123	0.49786	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20200	2.09	4.98	4.98	0.66077	.	0.071115	0.56097	U	0.000024	T	0.39462	0.1079	M	0.63428	1.95	0.53005	D	0.999963	D	0.61697	0.99	P	0.56398	0.797	T	0.19224	-1.0312	10	0.51188	T	0.08	.	17.8508	0.88747	0.0:0.0:1.0:0.0	.	796	Q8IZU8	DSEL_HUMAN	Y	806;796	ENSP00000310565:S806Y	ENSP00000310565:S806Y	S	-	2	0	DSEL	63330439	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.587000	0.67510	2.309000	0.77851	0.455000	0.32223	TCT	DSEL	-	NULL		0.338	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	G	NM_032160		65179459	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	1.000	T
DSPP	1834	genome.wustl.edu	37	4	88534422	88534422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:88534422G>T	ENST00000282478.7	+	3	1117	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Nonsense_Mutation_p.E362*			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	362					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AATCACCAAAGAATCAGAGAC	0.408																																																	0													39.0	38.0	38.0					4																	88534422		1857	4025	5882	SO:0001587	stop_gained	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1084G>T	4.37:g.88534422G>T	ENSP00000282478:p.Glu362*		A8MUI0|O95815	Nonsense_Mutation	SNP	NULL	p.E362*	ENST00000282478.7	37	c.1084	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.163447	0.94727	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	.	.	.	4.77	0.584	0.17422	.	1.292120	0.06022	N	0.651551	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	0.0506	8.582	0.33634	0.0969:0.4191:0.484:0.0	.	.	.	.	X	362	.	ENSP00000282478:E362X	E	+	1	0	DSPP	88753446	0.001000	0.12720	0.000000	0.03702	0.450000	0.32258	0.799000	0.27028	-0.129000	0.11620	0.557000	0.71058	GAA	DSPP	-	NULL		0.408	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	G	NM_014208		88534422	+1	no_errors	ENST00000282478	ensembl	human	known	70_37	nonsense	SNP	0.000	T
DST	667	genome.wustl.edu	37	6	56366458	56366458	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:56366458C>A	ENST00000361203.3	-	74	18647	c.18640G>T	c.(18640-18642)Gaa>Taa	p.E6214*	DST_ENST00000446842.2_Nonsense_Mutation_p.E5999*|DST_ENST00000421834.2_Nonsense_Mutation_p.E4237*|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.E3911*|DST_ENST00000370754.5_Nonsense_Mutation_p.E6503*|DST_ENST00000370769.4_Nonsense_Mutation_p.E6325*|DST_ENST00000370788.2_Nonsense_Mutation_p.E4128*			Q03001	DYST_HUMAN	dystonin	6214					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)			CTTTCCATTTCTATCTGCTGT	0.318																																																	0													134.0	114.0	120.0					6																	56366458		1836	4093	5929	SO:0001587	stop_gained	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.18640G>T	6.37:g.56366458C>A	ENSP00000354508:p.Glu6214*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_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.E6503*	ENST00000361203.3	37	c.19507		6	.	.	.	.	.	.	.	.	.	.	C	58	30.669692	0.99977	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	19.316	0.94213	0.0:1.0:0.0:0.0	.	.	.	.	X	3911;6503;6325;4237;5999;4128;6214	.	ENSP00000244364:E3911X	E	-	1	0	DST	56474417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.789000	0.85783	2.557000	0.86248	0.591000	0.81541	GAA	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56366458	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56483273	56483273	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:56483273G>T	ENST00000370765.6	-	23	5666	c.5559C>A	c.(5557-5559)atC>atA	p.I1853I	DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					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)			CATGCTCTTTGATCTGTTGGT	0.393																																																	0													112.0	112.0	112.0					6																	56483273		2203	4300	6503	SO:0001819	synonymous_variant	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	ENST00000370765.6:c.5559C>A	6.37:g.56483273G>T			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I1853	ENST00000370765.6	37	c.5559	CCDS4959.1	6																																																																																			DST	-	NULL		0.393	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	G	NM_001723		56483273	-1	no_errors	ENST00000370765	ensembl	human	known	70_37	silent	SNP	0.999	T
DTWD1	56986	genome.wustl.edu	37	15	49917417	49917417	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:49917417A>C	ENST00000251250.6	+	3	260	c.53A>C	c.(52-54)aAa>aCa	p.K18T	DTWD1_ENST00000403028.3_Missense_Mutation_p.K18T|DTWD1_ENST00000329873.5_Missense_Mutation_p.K18T|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000558653.1_Missense_Mutation_p.K18T	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	18										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AATAGTTCAAAATTTGTGGAA	0.333																																																	0													48.0	47.0	47.0					15																	49917417		2196	4293	6489	SO:0001583	missense	56986			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.53A>C	15.37:g.49917417A>C	ENSP00000251250:p.Lys18Thr		Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	pfam_DTW	p.K18T	ENST00000251250.6	37	c.53	CCDS10132.1	15	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290899	0.23564	.	.	ENSG00000104047	ENST00000403028;ENST00000329873;ENST00000251250	T;T;T	0.23950	1.92;1.88;1.92	5.09	2.61	0.31194	.	1.440830	0.03713	N	0.250603	T	0.23171	0.0560	L	0.44542	1.39	0.09310	N	0.999997	B	0.13594	0.008	B	0.14578	0.011	T	0.19614	-1.0300	9	.	.	.	-2.0791	5.4347	0.16474	0.5844:0.2652:0.1504:0.0	.	18	Q8N5C7	DTWD1_HUMAN	T	18	ENSP00000385399:K18T;ENSP00000329313:K18T;ENSP00000251250:K18T	.	K	+	2	0	DTWD1	47704709	0.905000	0.30787	0.918000	0.36340	0.648000	0.38561	1.205000	0.32308	0.886000	0.36113	0.482000	0.46254	AAA	DTWD1	-	NULL		0.333	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD1	HGNC	protein_coding	OTTHUMT00000254431.2	A	NM_020234		49917417	+1	no_errors	ENST00000251250	ensembl	human	known	70_37	missense	SNP	0.188	C
DTX4	23220	genome.wustl.edu	37	11	58962710	58962710	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:58962710G>T	ENST00000227451.3	+	7	1508	c.1404G>T	c.(1402-1404)aaG>aaT	p.K468N	DTX4_ENST00000532982.1_Missense_Mutation_p.K362N	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	468					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CAACCTGCAAGACCATTTATG	0.537																																																	0													76.0	80.0	79.0					11																	58962710		2003	4220	6223	SO:0001583	missense	23220			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1404G>T	11.37:g.58962710G>T	ENSP00000227451:p.Lys468Asn		Q0VF38	Missense_Mutation	SNP	pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.K468N	ENST00000227451.3	37	c.1404	CCDS44612.1	11	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899938	0.72754	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.45276	0.9;0.9	5.36	4.34	0.51931	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.82923	2.615	0.51767	D	0.999936	D	0.89917	1.0	D	0.87578	0.998	T	0.63247	-0.6680	10	0.51188	T	0.08	.	4.1918	0.10424	0.314:0.0:0.686:0.0	.	468	Q9Y2E6	DTX4_HUMAN	N	362;468	ENSP00000434055:K362N;ENSP00000227451:K468N	ENSP00000227451:K468N	K	+	3	2	DTX4	58719286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.307000	0.59123	2.506000	0.84524	0.655000	0.94253	AAG	DTX4	-	pfscan_Znf_RING		0.537	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	HGNC	protein_coding	OTTHUMT00000394228.1	G	XM_166213		58962710	+1	no_errors	ENST00000227451	ensembl	human	known	70_37	missense	SNP	1.000	T
DUOX1	53905	genome.wustl.edu	37	15	45426095	45426095	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:45426095G>A	ENST00000321429.4	+	4	499	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R31Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	31	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GAGGTGCAGCGATTTGATGGG	0.592																																																	0													153.0	133.0	140.0					15																	45426095		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.92G>A	15.37:g.45426095G>A	ENSP00000317997:p.Arg31Gln		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.R31Q	ENST00000321429.4	37	c.92	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.188148	0.94923	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73363	-0.74;-0.74	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88600	0.3149	10	0.59425	D	0.04	-7.7121	15.7702	0.78162	0.0:0.0:1.0:0.0	.	31	Q9NRD9	DUOX1_HUMAN	Q	31	ENSP00000317997:R31Q;ENSP00000373689:R31Q	ENSP00000317997:R31Q	R	+	2	0	DUOX1	43213387	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.805000	0.75191	2.572000	0.86782	0.655000	0.94253	CGA	DUOX1	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	G	NM_017434		45426095	+1	no_errors	ENST00000321429	ensembl	human	known	70_37	missense	SNP	1.000	A
DUSP12	11266	genome.wustl.edu	37	1	161721742	161721742	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:161721742A>G	ENST00000367943.4	+	3	577	c.545A>G	c.(544-546)tAt>tGt	p.Y182C		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	182					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TATAAGCAATATCGTTTACAA	0.363																																																	0													104.0	109.0	107.0					1																	161721742		2203	4300	6503	SO:0001583	missense	11266			AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.545A>G	1.37:g.161721742A>G	ENSP00000356920:p.Tyr182Cys		Q5VXA8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Y182C	ENST00000367943.4	37	c.545	CCDS1234.1	1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.215111	0.58452	.	.	ENSG00000081721	ENST00000367943	T	0.04194	3.68	4.99	4.99	0.66335	.	0.198931	0.33834	N	0.004502	T	0.11707	0.0285	M	0.77313	2.365	0.46478	D	0.999062	D	0.76494	0.999	D	0.64042	0.921	T	0.01048	-1.1469	9	0.66056	D	0.02	.	12.6891	0.56964	1.0:0.0:0.0:0.0	.	182	Q9UNI6	DUS12_HUMAN	C	182	ENSP00000356920:Y182C	ENSP00000356920:Y182C	Y	+	2	0	DUSP12	159988366	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.648000	0.67930	2.099000	0.63709	0.397000	0.26171	TAT	DUSP12	-	pirsf_DUSP12		0.363	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP12	HGNC	protein_coding	OTTHUMT00000083588.1	A	NM_007240		161721742	+1	no_errors	ENST00000367943	ensembl	human	known	70_37	missense	SNP	1.000	G
DUSP4	1846	genome.wustl.edu	37	8	29194615	29194615	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:29194615G>A	ENST00000240100.2	-	4	1502	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	DUSP4_ENST00000240101.2_Silent_p.S280S	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	371	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GCACGCCCACGGAGACCGGAA	0.706																																																	0													13.0	18.0	17.0					8																	29194615		2194	4288	6482	SO:0001819	synonymous_variant	1846			U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3070	protein-coding gene	gene with protein product	"""VH1 homologous phosphatase 2"", ""MAP kinase phosphatase 2"""	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.1113C>T	8.37:g.29194615G>A			B2RBU5|D3DSU4|G5E930|Q13524	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.S371	ENST00000240100.2	37	c.1113	CCDS6072.1	8																																																																																			DUSP4	-	pirsf_MKP		0.706	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP4	HGNC	protein_coding	OTTHUMT00000257249.1	G	NM_001394		29194615	-1	no_errors	ENST00000240100	ensembl	human	known	70_37	silent	SNP	0.107	A
DYNC1H1	1778	genome.wustl.edu	37	14	102477085	102477085	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:102477085A>G	ENST00000360184.4	+	32	6578	c.6414A>G	c.(6412-6414)atA>atG	p.I2138M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2138					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGATTCTGATACAGAGCGTCT	0.587																																																	0													62.0	59.0	60.0					14																	102477085		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6414A>G	14.37:g.102477085A>G	ENSP00000348965:p.Ile2138Met		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.I2138M	ENST00000360184.4	37	c.6414	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626410	0.66901	.	.	ENSG00000197102	ENST00000360184	T	0.28255	1.62	5.62	-11.2	0.00127	.	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	L	0.56124	1.755	0.58432	D	0.999999	D	0.71674	0.998	D	0.68483	0.958	T	0.80390	-0.1402	10	0.02654	T	1	.	20.9779	0.99942	0.089:0.784:0.0:0.1271	.	2138	Q14204	DYHC1_HUMAN	M	2138	ENSP00000348965:I2138M	ENSP00000348965:I2138M	I	+	3	3	DYNC1H1	101546838	0.654000	0.27367	0.679000	0.29978	0.462000	0.32619	-0.090000	0.11163	-2.181000	0.00765	-0.313000	0.08912	ATA	DYNC1H1	-	NULL		0.587	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	A	NM_001376		102477085	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	0.827	G
DYNC1I1	1780	genome.wustl.edu	37	7	95442584	95442584	+	Silent	SNP	G	G	T	rs549738585	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:95442584G>T	ENST00000324972.6	+	4	493	c.300G>T	c.(298-300)tcG>tcT	p.S100S	DYNC1I1_ENST00000537881.1_Silent_p.S83S|DYNC1I1_ENST00000413338.1_Silent_p.S83S|DYNC1I1_ENST00000457059.1_Silent_p.S83S|DYNC1I1_ENST00000447467.2_Silent_p.S83S|DYNC1I1_ENST00000359388.4_Silent_p.S83S|DYNC1I1_ENST00000437599.1_Silent_p.S100S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	100	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.S100S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTCCCTCCTCGAAATCAGTGA	0.473																																																	1	Substitution - coding silent(1)	large_intestine(1)											96.0	94.0	95.0					7																	95442584		2203	4300	6503	SO:0001819	synonymous_variant	1780			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.300G>T	7.37:g.95442584G>T			B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S100	ENST00000324972.6	37	c.300	CCDS5644.1	7																																																																																			DYNC1I1	-	NULL		0.473	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	G	NM_004411		95442584	+1	no_errors	ENST00000324972	ensembl	human	known	70_37	silent	SNP	1.000	T
DYNC2H1	79659	genome.wustl.edu	37	11	102993571	102993571	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:102993571G>T	ENST00000375735.2	+	11	1647	c.1503G>T	c.(1501-1503)aaG>aaT	p.K501N	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K501N|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.K501N	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	501	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATACTATCAAGATTGCAGAGG	0.353																																																	0													85.0	77.0	80.0					11																	102993571		1823	4075	5898	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1503G>T	11.37:g.102993571G>T	ENSP00000364887:p.Lys501Asn		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.K501N	ENST00000375735.2	37	c.1503	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023599	0.54683	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.59083	0.29;0.29;0.29	5.23	4.33	0.51752	Dynein heavy chain, domain-1 (1);	0.000000	0.47093	U	0.000251	T	0.65954	0.2741	L	0.41824	1.3	0.44388	D	0.997293	D;P;P	0.71674	0.998;0.627;0.551	D;B;B	0.66351	0.943;0.348;0.32	T	0.67703	-0.5602	10	0.52906	T	0.07	.	14.1573	0.65426	0.0727:0.0:0.9273:0.0	.	501;501;501	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	N	501	ENSP00000364887:K501N;ENSP00000334021:K501N;ENSP00000381167:K501N	ENSP00000334021:K501N	K	+	3	2	DYNC2H1	102498781	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.875000	0.56108	1.347000	0.45714	0.650000	0.86243	AAG	DYNC2H1	-	pfam_Dynein_heavy_dom-1		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	G	XM_370652		102993571	+1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	T
DYSF	8291	genome.wustl.edu	37	2	71829914	71829914	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:71829914G>T	ENST00000258104.3	+	36	4159	c.3882G>T	c.(3880-3882)gaG>gaT	p.E1294D	DYSF_ENST00000413539.2_Missense_Mutation_p.E1325D|DYSF_ENST00000429174.2_Missense_Mutation_p.E1294D|DYSF_ENST00000409762.1_Missense_Mutation_p.E1311D|DYSF_ENST00000410041.1_Missense_Mutation_p.E1312D|DYSF_ENST00000409744.1_Missense_Mutation_p.E1281D|DYSF_ENST00000409582.3_Missense_Mutation_p.E1311D|DYSF_ENST00000410020.3_Missense_Mutation_p.E1312D|DYSF_ENST00000409366.1_Missense_Mutation_p.E1295D|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.E1295D|DYSF_ENST00000409651.1_Missense_Mutation_p.E1326D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1294					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGTGCAGGAGACATCAAGGA	0.572																																																	0													52.0	52.0	52.0					2																	71829914		2203	4300	6503	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3882G>T	2.37:g.71829914G>T	ENSP00000258104:p.Glu1294Asp		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.E1325D	ENST00000258104.3	37	c.3975	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	7.807	0.714958	0.15306	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83591	-1.72;-1.71;-1.73;-1.73;-1.71;-1.72;-1.72;-1.73;-1.74;-1.73;-1.72	4.34	-8.68	0.00859	.	1.013530	0.07892	N	0.971304	T	0.64594	0.2612	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06405	0.0;0.001;0.001;0.001;0.001;0.002;0.002;0.002;0.001;0.001;0.001;0.001;0.001;0.001;0.0	T	0.50466	-0.8825	10	0.12430	T	0.62	-0.0329	3.4736	0.07577	0.2118:0.44:0.2162:0.132	.	37;1326;1312;1295;1281;1312;1281;1311;1280;1325;1311;1294;1280;1295;1294	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	D	1325;1311;1311;1294;1294;1326;1295;1281;1295;1312;1312	ENSP00000407046:E1325D;ENSP00000387137:E1311D;ENSP00000386547:E1311D;ENSP00000398305:E1294D;ENSP00000258104:E1294D;ENSP00000386683:E1326D;ENSP00000377678:E1295D;ENSP00000386285:E1281D;ENSP00000386512:E1295D;ENSP00000386881:E1312D;ENSP00000386617:E1312D	ENSP00000258104:E1294D	E	+	3	2	DYSF	71683422	0.003000	0.15002	0.001000	0.08648	0.684000	0.39900	-0.432000	0.06956	-2.140000	0.00806	-1.097000	0.02148	GAG	DYSF	-	NULL		0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	G	NM_003494		71829914	+1	no_errors	ENST00000413539	ensembl	human	known	70_37	missense	SNP	0.000	T
DZIP3	9666	genome.wustl.edu	37	3	108355553	108355553	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:108355553T>G	ENST00000361582.3	+	11	1239	c.1009T>G	c.(1009-1011)Ttg>Gtg	p.L337V	DZIP3_ENST00000463306.1_Missense_Mutation_p.L337V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	337					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGTTAAAATTTTGGTGAGTAT	0.328																																																	0													217.0	208.0	211.0					3																	108355553		2203	4300	6503	SO:0001583	missense	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1009T>G	3.37:g.108355553T>G	ENSP00000355028:p.Leu337Val		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L337V	ENST00000361582.3	37	c.1009	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030662	0.54790	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.48522	0.81;0.81;0.81	4.96	2.56	0.30785	.	0.000000	0.41500	D	0.000866	T	0.45597	0.1350	N	0.19112	0.55	0.29495	N	0.855344	D;D	0.67145	0.996;0.993	D;D	0.80764	0.994;0.987	T	0.30268	-0.9984	10	0.36615	T	0.2	-7.3634	5.3359	0.15957	0.0:0.2344:0.0:0.7656	.	337;337	C9J9M8;Q86Y13	.;DZIP3_HUMAN	V	337	ENSP00000355028:L337V;ENSP00000418115:L337V;ENSP00000419981:L337V	ENSP00000355028:L337V	L	+	1	2	DZIP3	109838243	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	0.713000	0.25794	0.906000	0.36621	0.455000	0.32223	TTG	DZIP3	-	NULL		0.328	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	T	NM_014648		108355553	+1	no_errors	ENST00000361582	ensembl	human	known	70_37	missense	SNP	1.000	G
DZIP3	9666	genome.wustl.edu	37	3	108403096	108403096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:108403096G>T	ENST00000361582.3	+	27	3147	c.2917G>T	c.(2917-2919)Gaa>Taa	p.E973*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.E973*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	973					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TCTTGTGAAAGAATCTTTCTT	0.418																																																	0													143.0	164.0	157.0					3																	108403096		2203	4300	6503	SO:0001587	stop_gained	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2917G>T	3.37:g.108403096G>T	ENSP00000355028:p.Glu973*		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E973*	ENST00000361582.3	37	c.2917	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.245750	0.98724	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	.	.	.	5.45	4.55	0.56014	.	0.115441	0.39020	N	0.001494	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-6.0335	9.2251	0.37402	0.1013:0.0:0.8987:0.0	.	.	.	.	X	973	.	ENSP00000355028:E973X	E	+	1	0	DZIP3	109885786	1.000000	0.71417	0.931000	0.37212	0.991000	0.79684	2.765000	0.47621	1.470000	0.48102	0.655000	0.94253	GAA	DZIP3	-	NULL		0.418	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	G	NM_014648		108403096	+1	no_errors	ENST00000361582	ensembl	human	known	70_37	nonsense	SNP	0.941	T
E2F1	1869	genome.wustl.edu	37	20	32264972	32264972	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:32264972T>C	ENST00000343380.5	-	6	1144	c.1005A>G	c.(1003-1005)ccA>ccG	p.P335P	NECAB3_ENST00000246190.6_5'Flank|RP1-63M2.5_ENST00000606866.1_RNA|NECAB3_ENST00000375238.4_5'Flank	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	335	Required for interaction with TRIM28.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GGGGAGATGATGGTGGTGGTG	0.627																																																	0													138.0	119.0	125.0					20																	32264972		2203	4300	6503	SO:0001819	synonymous_variant	1869				CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.1005A>G	20.37:g.32264972T>C			Q13143|Q92768	Silent	SNP	pfam_E2F_TDP	p.P335	ENST00000343380.5	37	c.1005	CCDS13224.1	20																																																																																			E2F1	-	NULL		0.627	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F1	HGNC	protein_coding	OTTHUMT00000078731.2	T			32264972	-1	no_errors	ENST00000343380	ensembl	human	known	70_37	silent	SNP	0.562	C
E2F6	1876	genome.wustl.edu	37	2	11598468	11598468	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:11598468G>T	ENST00000381525.3	-	2	378				E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000307236.4_5'UTR|E2F6_ENST00000362009.4_Intron|E2F6_ENST00000546212.1_Intron	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		AGATTTGCCTGAATAAACAAC	0.488																																																	0													130.0	128.0	128.0					2																	11598468		692	1591	2283	SO:0001627	intron_variant	1876			AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.109-1109C>A	2.37:g.11598468G>T			A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Missense_Mutation	SNP	NULL	p.Q40K	ENST00000381525.3	37	c.118	CCDS1680.2	2																																																																																			E2F6	-	NULL		0.488	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F6	HGNC	protein_coding	OTTHUMT00000207101.2	G	NM_001952		11598468	-1	no_errors	ENST00000444832	ensembl	human	known	70_37	missense	SNP	0.000	T
EBF3	253738	genome.wustl.edu	37	10	131646736	131646736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:131646736C>A	ENST00000355311.5	-	11	1120	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	EBF3_ENST00000368648.3_Nonsense_Mutation_p.E341*			Q9H4W6	COE3_HUMAN	early B-cell factor 3	350					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ATGGTTGGTTCATTAAGGGCT	0.408																																																	0													145.0	134.0	138.0					10																	131646736		2203	4300	6503	SO:0001587	stop_gained	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1048G>T	10.37:g.131646736C>A	ENSP00000347463:p.Glu350*		A0AUY1|Q5T6H9|Q9H4W5	Nonsense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.E350*	ENST00000355311.5	37	c.1048		10	.	.	.	.	.	.	.	.	.	.	C	37	6.569364	0.97671	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-14.0898	20.3473	0.98799	0.0:1.0:0.0:0.0	.	.	.	.	X	350;341	.	ENSP00000347463:E350X	E	-	1	0	EBF3	131536726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.884000	0.98904	0.655000	0.94253	GAA	EBF3	-	NULL		0.408	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2	C	NM_001005463		131646736	-1	no_errors	ENST00000355311	ensembl	human	known	70_37	nonsense	SNP	1.000	A
C6orf201	404220	genome.wustl.edu	37	6	4130835	4130835	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:4130835G>T	ENST00000380175.4	+	0	1484				ECI2_ENST00000361538.2_Intron|C6orf201_ENST00000333388.5_3'UTR|ECI2_ENST00000465828.1_Intron|ECI2_ENST00000413766.2_Intron|ECI2_ENST00000380118.3_Intron|ECI2_ENST00000380125.2_Intron	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201											central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CATGGTCAATGAATAAGCACT	0.413																																																	0													68.0	66.0	67.0					6																	4130835		2203	4300	6503	SO:0001624	3_prime_UTR_variant	10455			BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.*296G>T	6.37:g.4130835G>T			A6NLI6|Q6NXN5	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.F118L	ENST00000380175.4	37	c.354	CCDS43419.1	6																																																																																			ECI2	-	NULL		0.413	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	ECI2	HGNC	protein_coding	OTTHUMT00000314019.2	G	NM_001085401		4130835	-1	no_errors	ENST00000380120	ensembl	human	known	70_37	missense	SNP	0.000	T
ECT2	1894	genome.wustl.edu	37	3	172472404	172472404	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:172472404G>T	ENST00000392692.3	+	2	260	c.84G>T	c.(82-84)gaG>gaT	p.E28D	ECT2_ENST00000417960.1_Missense_Mutation_p.E28D|ECT2_ENST00000441497.2_Missense_Mutation_p.E28D|ECT2_ENST00000427830.1_Missense_Mutation_p.E28D|ECT2_ENST00000232458.5_Missense_Mutation_p.E28D|ECT2_ENST00000540509.1_Missense_Mutation_p.E28D	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	28					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGTTACTGAGATTTCCAAGG	0.318																																																	0													51.0	52.0	52.0					3																	172472404		2203	4295	6498	SO:0001583	missense	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.84G>T	3.37:g.172472404G>T	ENSP00000376457:p.Glu28Asp		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.E28D	ENST00000392692.3	37	c.84	CCDS58860.1	3	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393292	0.62066	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.25;-0.85;-1.36;-1.26;0.04;0.24;0.12;0.07;0.22;-1.25;-0.85	5.46	1.55	0.23275	.	0.103353	0.64402	N	0.000004	T	0.80347	0.4606	L	0.34521	1.04	0.47659	D	0.999488	D;D;D;D	0.89917	0.998;0.998;1.0;0.996	D;D;D;D	0.80764	0.986;0.994;0.973;0.936	T	0.76206	-0.3044	10	0.62326	D	0.03	-9.9804	5.2358	0.15445	0.5623:0.2872:0.1505:0.0	.	28;28;28;28	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	D	28	ENSP00000232458:E28D;ENSP00000376457:E28D;ENSP00000401910:E28D;ENSP00000415876:E28D;ENSP00000403501:E28D;ENSP00000412331:E28D;ENSP00000403446:E28D;ENSP00000412028:E28D;ENSP00000389108:E28D;ENSP00000412259:E28D;ENSP00000443160:E28D	ENSP00000232458:E28D	E	+	3	2	ECT2	173955098	1.000000	0.71417	0.849000	0.33467	0.695000	0.40330	1.762000	0.38451	0.017000	0.15025	-0.350000	0.07774	GAG	ECT2	-	NULL		0.318	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	HGNC	protein_coding	OTTHUMT00000345994.2	G	NM_018098		172472404	+1	no_errors	ENST00000427830	ensembl	human	known	70_37	missense	SNP	0.991	T
EDAR	10913	genome.wustl.edu	37	2	109529190	109529190	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:109529190T>G	ENST00000258443.2	-	6	903	c.473A>C	c.(472-474)aAc>aCc	p.N158T	EDAR_ENST00000409271.1_Missense_Mutation_p.N158T|EDAR_ENST00000376651.1_Missense_Mutation_p.N158T	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	158					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCCAGGGAAGTTGGCAGAAGC	0.567																																																	0													51.0	48.0	49.0					2																	109529190		2203	4299	6502	SO:0001583	missense	10913			AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.473A>C	2.37:g.109529190T>G	ENSP00000258443:p.Asn158Thr		B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	pfam_Death,superfamily_DEATH-like	p.N158T	ENST00000258443.2	37	c.473	CCDS2081.1	2	.	.	.	.	.	.	.	.	.	.	T	6.518	0.463812	0.12402	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90004	-2.6;-2.59;-2.6	5.26	-0.204	0.13200	.	0.508271	0.23007	N	0.053011	T	0.76407	0.3983	L	0.36672	1.1	0.19775	N	0.999951	B;B	0.13594	0.008;0.008	B;B	0.12156	0.007;0.007	T	0.55995	-0.8052	10	0.14252	T	0.57	-12.9535	1.8127	0.03094	0.1757:0.4133:0.1556:0.2554	.	158;158	E9PC98;Q9UNE0	.;EDAR_HUMAN	T	158	ENSP00000386371:N158T;ENSP00000258443:N158T;ENSP00000365839:N158T	ENSP00000258443:N158T	N	-	2	0	EDAR	108895622	1.000000	0.71417	0.009000	0.14445	0.009000	0.06853	1.445000	0.35079	-0.006000	0.14370	-0.290000	0.09829	AAC	EDAR	-	NULL		0.567	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDAR	HGNC	protein_coding	OTTHUMT00000253595.1	T			109529190	-1	no_errors	ENST00000376651	ensembl	human	known	70_37	missense	SNP	0.524	G
EFCAB5	374786	genome.wustl.edu	37	17	28320319	28320319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:28320319G>T	ENST00000394835.3	+	5	1096	c.904G>T	c.(904-906)Gga>Tga	p.G302*	EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.G302*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.G302*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.G302*|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000534836.2_3'UTR|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.G246*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	302							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGACCCTAAAGGAATGATTCC	0.418																																																	0													91.0	85.0	87.0					17																	28320319		1866	4115	5981	SO:0001587	stop_gained	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.904G>T	17.37:g.28320319G>T	ENSP00000378312:p.Gly302*		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	pfscan_EF_HAND_2	p.G302*	ENST00000394835.3	37	c.904	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221684	0.58560	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	.	.	.	5.26	4.27	0.50696	.	0.000000	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.3247	9.9147	0.41427	0.0939:0.0:0.9061:0.0	.	.	.	.	X	246;43;302;302;302;302;246;108	.	ENSP00000322003:G302X	G	+	1	0	EFCAB5	25344445	0.992000	0.36948	1.000000	0.80357	0.669000	0.39330	2.632000	0.46511	2.727000	0.93392	0.655000	0.94253	GGA	EFCAB5	-	NULL		0.418	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	G	NM_198529		28320319	+1	no_errors	ENST00000394835	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MICU3	286097	genome.wustl.edu	37	8	16944530	16944530	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:16944530A>G	ENST00000318063.5	+	7	877	c.835A>G	c.(835-837)Aag>Gag	p.K279E		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	279						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										AGATGAAGAAAAGCGTGCAAT	0.294																																																	0													98.0	108.0	104.0					8																	16944530		2203	4299	6502	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.835A>G	8.37:g.16944530A>G	ENSP00000321455:p.Lys279Glu		Q8IYZ3	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K279E	ENST00000318063.5	37	c.835	CCDS5999.1	8	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701237	0.48307	.	.	ENSG00000155970	ENST00000318063	T	0.46451	0.87	5.46	5.46	0.80206	.	0.173178	0.47852	D	0.000205	T	0.36991	0.0987	L	0.54323	1.7	0.80722	D	1	B	0.32245	0.361	B	0.23419	0.046	T	0.16630	-1.0396	10	0.30854	T	0.27	-15.8963	14.6429	0.68739	1.0:0.0:0.0:0.0	.	279	Q86XE3	EFHA2_HUMAN	E	279	ENSP00000321455:K279E	ENSP00000321455:K279E	K	+	1	0	EFHA2	16988901	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.294000	0.72738	2.205000	0.71048	0.477000	0.44152	AAG	EFHA2	-	NULL		0.294	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA2	HGNC	protein_coding	OTTHUMT00000214031.1	A	NM_181723		16944530	+1	no_errors	ENST00000318063	ensembl	human	known	70_37	missense	SNP	1.000	G
EFHB	151651	genome.wustl.edu	37	3	19925929	19925929	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:19925929C>A	ENST00000295824.9	-	11	2273	c.2112G>T	c.(2110-2112)gaG>gaT	p.E704D	EFHB_ENST00000344838.4_Missense_Mutation_p.E574D	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	704							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTGCATTGATCTCAGAAGAAG	0.378																																																	0													104.0	100.0	102.0					3																	19925929		2203	4300	6503	SO:0001583	missense	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2112G>T	3.37:g.19925929C>A	ENSP00000295824:p.Glu704Asp		A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E704D	ENST00000295824.9	37	c.2112	CCDS33715.2	3	.	.	.	.	.	.	.	.	.	.	C	9.893	1.204669	0.22205	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.25085	1.82;1.86	5.67	4.79	0.61399	.	0.342445	0.28031	N	0.016880	T	0.25827	0.0629	M	0.63428	1.95	0.29390	N	0.862673	B;B	0.14438	0.01;0.004	B;B	0.15484	0.013;0.002	T	0.13522	-1.0506	9	.	.	.	-18.5777	10.269	0.43473	0.1369:0.7934:0.0:0.0697	.	574;704	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	D	704;574	ENSP00000295824:E704D;ENSP00000342263:E574D	.	E	-	3	2	EFHB	19900933	0.995000	0.38212	1.000000	0.80357	0.666000	0.39218	0.212000	0.17497	1.376000	0.46267	0.650000	0.86243	GAG	EFHB	-	NULL		0.378	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHB	HGNC	protein_coding	OTTHUMT00000318673.2	C	NM_144715		19925929	-1	no_errors	ENST00000295824	ensembl	human	known	70_37	missense	SNP	1.000	A
EFTUD2	9343	genome.wustl.edu	37	17	42928702	42928702	+	Silent	SNP	G	G	A	rs528607188		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:42928702G>A	ENST00000426333.2	-	28	3156	c.2859C>T	c.(2857-2859)ttC>ttT	p.F953F	EFTUD2_ENST00000592576.1_Silent_p.F943F|EFTUD2_ENST00000402521.3_Silent_p.F918F|EFTUD2_ENST00000591382.1_Silent_p.F953F	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	953					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TAGGATCATCGAAGAATTTGC	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		22209	0.0		0.0	False		,,,				2504	0.001				Ovarian(10;65 485 10258 29980 30707)												0													179.0	156.0	164.0					17																	42928702		2203	4300	6503	SO:0001819	synonymous_variant	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2859C>T	17.37:g.42928702G>A			B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.F953	ENST00000426333.2	37	c.2859	CCDS11489.1	17																																																																																			EFTUD2	-	NULL		0.522	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	G	NM_004247		42928702	-1	no_errors	ENST00000426333	ensembl	human	known	70_37	silent	SNP	1.000	A
EI24	9538	genome.wustl.edu	37	11	125447446	125447446	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:125447446C>T	ENST00000278903.6	+	5	538	c.296C>T	c.(295-297)tCg>tTg	p.S99L	EI24_ENST00000343678.4_Missense_Mutation_p.S99L|RNU6-1156P_ENST00000410365.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	99					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	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;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GTGCTTCAGTCGGTAACAGCC	0.418																																																	0													321.0	269.0	285.0					11																	125447446		1897	4127	6024	SO:0001583	missense	9538			AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.296C>T	11.37:g.125447446C>T	ENSP00000278903:p.Ser99Leu		A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	NULL	p.S99L	ENST00000278903.6	37	c.296		11	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106410	0.37145	.	.	ENSG00000149547	ENST00000278903;ENST00000343678;ENST00000524723;ENST00000527842;ENST00000527520;ENST00000527131	.	.	.	5.61	4.69	0.59074	.	0.253824	0.40064	N	0.001190	T	0.37517	0.1006	N	0.12182	0.205	0.51012	D	0.999909	B;B;B;B	0.19817	0.039;0.015;0.022;0.014	B;B;B;B	0.15484	0.01;0.005;0.013;0.01	T	0.18713	-1.0328	9	0.09843	T	0.71	.	15.5394	0.76031	0.1394:0.8606:0.0:0.0	.	85;99;99;99	B4DKL6;E9PM05;A6NES3;O14681	.;.;.;EI24_HUMAN	L	99;99;142;99;85;99	.	ENSP00000278903:S99L	S	+	2	0	EI24	124952656	0.997000	0.39634	1.000000	0.80357	0.933000	0.57130	3.389000	0.52516	1.364000	0.46038	-0.182000	0.12963	TCG	EI24	-	NULL		0.418	EI24-201	KNOWN	basic|appris_principal	protein_coding	EI24	HGNC	protein_coding		C	NM_004879		125447446	+1	no_errors	ENST00000278903	ensembl	human	known	70_37	missense	SNP	1.000	T
EIF3A	8661	genome.wustl.edu	37	10	120810137	120810137	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:120810137C>T	ENST00000369144.3	-	16	2496	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.R756Q	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTCTTCCAATCGATTATGCCT	0.423																																																	0													327.0	280.0	296.0					10																	120810137		2203	4300	6503	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2369G>A	10.37:g.120810137C>T	ENSP00000358140:p.Arg790Gln		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.R790Q	ENST00000369144.3	37	c.2369	CCDS7608.1	10	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988637	0.74589	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.29917	1.55;1.55	5.57	5.57	0.84162	.	0.000000	0.39834	N	0.001253	T	0.62792	0.2457	M	0.87180	2.865	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.68265	-0.5454	10	0.66056	D	0.02	-6.622	19.2109	0.93755	0.0:1.0:0.0:0.0	.	790	Q14152	EIF3A_HUMAN	Q	790;756	ENSP00000358140:R790Q;ENSP00000438178:R756Q	ENSP00000358140:R790Q	R	-	2	0	EIF3A	120800127	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	7.036000	0.76524	2.642000	0.89623	0.555000	0.69702	CGA	EIF3A	-	NULL		0.423	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	C	NM_003750		120810137	-1	no_errors	ENST00000369144	ensembl	human	known	70_37	missense	SNP	1.000	T
EIF4G1	1981	genome.wustl.edu	37	3	184043121	184043121	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:184043121G>A	ENST00000346169.2	+	19	3192	c.2921G>A	c.(2920-2922)cGc>cAc	p.R974H	EIF4G1_ENST00000382330.3_Missense_Mutation_p.R981H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R779H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R810H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R934H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R887H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R981H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R811H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R778H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R974H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R981H|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R975H|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R935H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R888H	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	974	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTCATCCCGCATCCGCTTT	0.527																																																	0													110.0	108.0	109.0					3																	184043121		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2921G>A	3.37:g.184043121G>A	ENSP00000316879:p.Arg974His		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.R981H	ENST00000346169.2	37	c.2942	CCDS3259.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.134425|5.134425	0.94517|0.94517	.|.	.|.	ENSG00000114867|ENSG00000114867	ENST00000448284|ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.34667	.|1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.53|5.53	5.53|5.53	0.82687|0.82687	.|MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74023|0.74023	0.3662|0.3662	H|H	0.98199|0.98199	4.17|4.17	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.71674	.|0.998;0.987;0.994;0.994	.|P;P;P;P	.|0.62184	.|0.899;0.846;0.846;0.846	D|D	0.84694|0.84694	0.0724|0.0724	5|10	.|0.87932	.|D	.|0	-8.7426|-8.7426	19.453|19.453	0.94875|0.94875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|981;975;974;981	.|E9PFM1;D3DNT2;Q04637;B2RU10	.|.;.;IF4G1_HUMAN;.	T|H	26|974;934;887;981;810;981;888;975;974;981;935;811;779;778	.|ENSP00000316879:R974H;ENSP00000391935:R934H;ENSP00000376320:R887H;ENSP00000371767:R981H;ENSP00000317600:R810H;ENSP00000338020:R981H;ENSP00000407682:R888H;ENSP00000343450:R975H;ENSP00000323737:R974H;ENSP00000416255:R981H;ENSP00000395974:R935H;ENSP00000399858:R811H;ENSP00000411826:R779H;ENSP00000404754:R778H	.|ENSP00000323737:R974H	A|R	+|+	1|2	0|0	EIF4G1|EIF4G1	185525815|185525815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	9.665000|9.665000	0.98609|0.98609	2.613000|2.613000	0.88420|0.88420	0.555000|0.555000	0.69702|0.69702	GCA|CGC	EIF4G1	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.527	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	G	NM_182917		184043121	+1	no_errors	ENST00000352767	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF4G3	8672	genome.wustl.edu	37	1	21296060	21296060	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:21296060A>G	ENST00000264211.8	-	6	647	c.453T>C	c.(451-453)ggT>ggC	p.G151G	EIF4G3_ENST00000400422.1_Silent_p.G151G|EIF4G3_ENST00000374927.4_Silent_p.G151G|EIF4G3_ENST00000602326.1_Silent_p.G158G|EIF4G3_ENST00000374935.3_Silent_p.G151G|EIF4G3_ENST00000374937.3_Silent_p.G158G|EIF4G3_ENST00000356916.3_Silent_p.G162G|EIF4G3_ENST00000536266.1_5'UTR	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	151	PABPC1-binding.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTATGTCTTTACCTCCCTGGT	0.423																																																	0													137.0	124.0	128.0					1																	21296060		2203	4300	6503	SO:0001819	synonymous_variant	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.453T>C	1.37:g.21296060A>G			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.G158	ENST00000264211.8	37	c.474	CCDS214.1	1																																																																																			EIF4G3	-	NULL		0.423	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	A	NM_003760		21296060	-1	no_errors	ENST00000374937	ensembl	human	known	70_37	silent	SNP	1.000	G
ELAVL2	1993	genome.wustl.edu	37	9	23701536	23701536	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:23701536C>T	ENST00000397312.2	-	5	828	c.554G>A	c.(553-555)gGc>gAc	p.G185D	ELAVL2_ENST00000544538.1_Missense_Mutation_p.G185D|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G185D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G185D|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G214D	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	185	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCCATTTAGGCCTTTGATAGC	0.448																																																	0													224.0	228.0	227.0					9																	23701536		2203	4300	6503	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.554G>A	9.37:g.23701536C>T	ENSP00000380479:p.Gly185Asp		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.G213D	ENST00000397312.2	37	c.638	CCDS6515.1	9	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773365	0.49786	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	5.92	5.92	0.95590	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.12561	0.0305	N	0.11724	0.165	0.80722	D	1	B;B	0.15141	0.012;0.003	B;B	0.19391	0.025;0.005	T	0.22382	-1.0218	10	0.17832	T	0.49	.	20.3241	0.98686	0.0:1.0:0.0:0.0	.	185;185	Q12926;Q12926-2	ELAV2_HUMAN;.	D	185;185;185;185;185;213;50;185	ENSP00000223951:G185D;ENSP00000380479:G185D;ENSP00000440998:G185D;ENSP00000369460:G185D;ENSP00000391757:G50D;ENSP00000412602:G185D	ENSP00000223951:G185D	G	-	2	0	ELAVL2	23691536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.812000	0.96745	0.563000	0.77884	GGC	ELAVL2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF		0.448	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	C	NM_004432		23701536	-1	no_errors	ENST00000359598	ensembl	human	known	70_37	missense	SNP	1.000	T
ELF1	1997	genome.wustl.edu	37	13	41508024	41508024	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:41508024A>C	ENST00000239882.3	-	9	1711	c.1397T>G	c.(1396-1398)tTt>tGt	p.F466C	ELF1_ENST00000442101.1_Missense_Mutation_p.F442C|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	466					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTGTAAAATAAACTTCTGAGA	0.453																																																	0													169.0	169.0	169.0					13																	41508024		2203	4300	6503	SO:0001583	missense	1997			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1397T>G	13.37:g.41508024A>C	ENSP00000239882:p.Phe466Cys		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.F466C	ENST00000239882.3	37	c.1397	CCDS9374.1	13	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329066	0.60743	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.55413	0.52;0.52	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	L	0.36672	1.1	0.47949	D	0.999557	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.67581	-0.5634	10	0.72032	D	0.01	.	15.5037	0.75722	1.0:0.0:0.0:0.0	.	442;466	E9PDQ9;P32519	.;ELF1_HUMAN	C	442;208;466	ENSP00000405580:F442C;ENSP00000239882:F466C	ENSP00000239882:F466C	F	-	2	0	ELF1	40406024	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	7.165000	0.77544	2.053000	0.61076	0.533000	0.62120	TTT	ELF1	-	NULL		0.453	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	HGNC	protein_coding	OTTHUMT00000044654.3	A	NM_172373		41508024	-1	no_errors	ENST00000239882	ensembl	human	known	70_37	missense	SNP	1.000	C
ELF4	2000	genome.wustl.edu	37	X	129200915	129200915	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:129200915C>T	ENST00000308167.5	-	9	2152	c.1773G>A	c.(1771-1773)ccG>ccA	p.P591P	ELF4_ENST00000335997.7_Silent_p.P591P	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCAGAAGGCTCGGATTGTGGG	0.607			T	ERG	AML																																			Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	0													96.0	101.0	99.0					X																	129200915		2203	4300	6503	SO:0001819	synonymous_variant	2000			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1773G>A	X.37:g.129200915C>T				Silent	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.P591	ENST00000308167.5	37	c.1773	CCDS14617.1	X																																																																																			ELF4	-	NULL		0.607	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF4	HGNC	protein_coding	OTTHUMT00000058243.1	C	NM_001421		129200915	-1	no_errors	ENST00000308167	ensembl	human	known	70_37	silent	SNP	0.652	T
ELOVL4	6785	genome.wustl.edu	37	6	80631439	80631439	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:80631439T>C	ENST00000369816.4	-	4	744	c.444A>G	c.(442-444)agA>agG	p.R148R		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	148					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TGTTTTTCTTTCTCAGAATAA	0.393																																																	0													113.0	111.0	111.0					6																	80631439		2203	4300	6503	SO:0001819	synonymous_variant	6785			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.444A>G	6.37:g.80631439T>C			B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Silent	SNP	pfam_GNS1_SUR4	p.R148	ENST00000369816.4	37	c.444	CCDS4992.1	6																																																																																			ELOVL4	-	pfam_GNS1_SUR4		0.393	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL4	HGNC	protein_coding	OTTHUMT00000041315.1	T			80631439	-1	no_errors	ENST00000369816	ensembl	human	known	70_37	silent	SNP	1.000	C
ENOSF1	55556	genome.wustl.edu	37	18	697270	697270	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:697270C>T	ENST00000251101.7	-	3	367	c.279G>A	c.(277-279)agG>agA	p.R93R	ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000340116.7_Silent_p.R114R|ENOSF1_ENST00000539164.1_Silent_p.R93R	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	93					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TTGTGAGCTGCCTATAGAAGC	0.443																																																	0													238.0	243.0	242.0					18																	697270		2203	4300	6503	SO:0001819	synonymous_variant	55556			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.279G>A	18.37:g.697270C>T			A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Silent	SNP	pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C	p.R114	ENST00000251101.7	37	c.342	CCDS11822.1	18																																																																																			ENOSF1	-	pfam_Mandelate_racemase_N		0.443	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOSF1	HGNC	protein_coding	OTTHUMT00000254312.2	C	NM_017512		697270	-1	no_errors	ENST00000340116	ensembl	human	known	70_37	silent	SNP	1.000	T
EMILIN2	84034	genome.wustl.edu	37	18	2891551	2891551	+	Missense_Mutation	SNP	C	C	T	rs546388595	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:2891551C>T	ENST00000254528.3	+	4	1585	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	476					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.R476W(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGAAACCCTTCGGGGCGCCAT	0.463													C|||	3	0.000599042	0.0	0.0014	5008	,	,		21889	0.0		0.0	False		,,,				2504	0.002																1	Substitution - Missense(1)	large_intestine(1)											87.0	96.0	93.0					18																	2891551		2203	4300	6503	SO:0001583	missense	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1426C>T	18.37:g.2891551C>T	ENSP00000254528:p.Arg476Trp		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.R476W	ENST00000254528.3	37	c.1426	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801904	0.50315	.	.	ENSG00000132205	ENST00000254528	T	0.03689	3.84	5.4	4.52	0.55395	.	0.000000	0.64402	D	0.000007	T	0.14614	0.0353	M	0.62723	1.935	0.21527	N	0.999655	D	0.89917	1.0	D	0.76575	0.988	T	0.01935	-1.1244	10	0.54805	T	0.06	-39.8923	13.2759	0.60188	0.2884:0.7116:0.0:0.0	.	476	Q9BXX0	EMIL2_HUMAN	W	476	ENSP00000254528:R476W	ENSP00000254528:R476W	R	+	1	2	EMILIN2	2881551	0.045000	0.20229	0.866000	0.34008	0.642000	0.38348	0.473000	0.22132	1.242000	0.43836	0.563000	0.77884	CGG	EMILIN2	-	NULL		0.463	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2	C	NM_032048		2891551	+1	no_errors	ENST00000254528	ensembl	human	known	70_37	missense	SNP	0.235	T
ENOX1	55068	genome.wustl.edu	37	13	43934081	43934081	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:43934081G>A	ENST00000261488.6	-	7	1072	c.495C>T	c.(493-495)tgC>tgT	p.C165C	ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Silent_p.C165C|ENOX1_ENST00000540032.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	165	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TAATATCACCGCACTGTTCAA	0.408																																																	0													111.0	104.0	106.0					13																	43934081		2203	4300	6503	SO:0001819	synonymous_variant	55068			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.495C>T	13.37:g.43934081G>A			A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.C165	ENST00000261488.6	37	c.495	CCDS9389.1	13																																																																																			ENOX1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.408	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	G	NM_017993		43934081	-1	no_errors	ENST00000261488	ensembl	human	known	70_37	silent	SNP	0.930	A
ENPP2	5168	genome.wustl.edu	37	8	120569809	120569809	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:120569809T>G	ENST00000075322.6	-	25	2602	c.2544A>C	c.(2542-2544)gaA>gaC	p.E848D	ENPP2_ENST00000427067.2_Missense_Mutation_p.E869D|ENPP2_ENST00000259486.6_Missense_Mutation_p.E900D|ENPP2_ENST00000522167.1_Missense_Mutation_p.E483D|ENPP2_ENST00000522826.1_Missense_Mutation_p.E873D	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	848	Required for secretion. {ECO:0000250}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTGTCAGGATTTCTGGGTAGC	0.443																																					Melanoma(20;305 879 2501 4818 31020)												0													177.0	169.0	172.0					8																	120569809		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2544A>C	8.37:g.120569809T>G	ENSP00000075322:p.Glu848Asp		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E900D	ENST00000075322.6	37	c.2700	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	T	13.52	2.260951	0.39995	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	6.02	2.4	0.29515	.	0.108901	0.64402	D	0.000002	T	0.23133	0.0559	L	0.35542	1.07	0.51767	D	0.999931	P;P;B;B;B	0.43231	0.801;0.786;0.032;0.383;0.433	B;B;B;B;B	0.42422	0.387;0.323;0.016;0.264;0.145	T	0.01739	-1.1284	10	0.34782	T	0.22	.	9.0676	0.36473	0.0:0.2145:0.0:0.7855	.	386;873;848;900;483	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	D	900;869;483;873;848	ENSP00000259486:E900D;ENSP00000403315:E869D;ENSP00000429476:E483D;ENSP00000428291:E873D;ENSP00000075322:E848D	ENSP00000075322:E848D	E	-	3	2	ENPP2	120638990	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	0.742000	0.26216	0.513000	0.28278	-0.250000	0.11733	GAA	ENPP2	-	NULL		0.443	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	T			120569809	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	1.000	G
ENPP2	5168	genome.wustl.edu	37	8	120596257	120596257	+	Missense_Mutation	SNP	C	C	T	rs567059238		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:120596257C>T	ENST00000075322.6	-	16	1458	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E	ENPP2_ENST00000427067.2_Missense_Mutation_p.G463E|ENPP2_ENST00000259486.6_Missense_Mutation_p.G519E|ENPP2_ENST00000522167.1_Missense_Mutation_p.G106E|ENPP2_ENST00000522826.1_Missense_Mutation_p.G467E	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	467					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAAGCATTTTCCTGATGGTTT	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		20161	0.0		0.0	False		,,,				2504	0.001				Melanoma(20;305 879 2501 4818 31020)												0													176.0	178.0	177.0					8																	120596257		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1400G>A	8.37:g.120596257C>T	ENSP00000075322:p.Gly467Glu		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.G519E	ENST00000075322.6	37	c.1556	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766334	0.49574	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.74	5.74	0.90152	Alkaline-phosphatase-like, core domain (1);	0.402640	0.30519	N	0.009450	T	0.69405	0.3107	L	0.28694	0.88	0.58432	D	0.999999	B;B;P;B	0.35174	0.195;0.044;0.488;0.016	B;B;B;B	0.31245	0.065;0.036;0.126;0.013	T	0.68345	-0.5433	10	0.39692	T	0.17	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	467;467;519;106	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	E	519;463;106;467;467	ENSP00000259486:G519E;ENSP00000403315:G463E;ENSP00000429476:G106E;ENSP00000428291:G467E;ENSP00000075322:G467E	ENSP00000075322:G467E	G	-	2	0	ENPP2	120665438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.559000	0.53756	2.683000	0.91414	0.655000	0.94253	GGA	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.333	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120596257	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	1.000	T
MIR7162	102466227	genome.wustl.edu	37	15	62537946	62537946	+	RNA	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:62537946T>G	ENST00000570077.1	-	0	1270				AC126323.1_ENST00000408214.1_RNA																							CGCCTGATGGTGGTACGGTCG	0.602																																																	0																																												0																															15.37:g.62537946T>G				RNA	SNP	-	NULL	ENST00000570077.1	37	NULL		15																																																																																			RP11-299H22.3	-	-		0.602	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	ENSG00000166104	Clone_based_vega_gene	pseudogene	OTTHUMT00000422143.1	T			62537946	-1	no_errors	ENST00000570077	ensembl	human	known	70_37	rna	SNP	1.000	G
FDX1L	112812	genome.wustl.edu	37	19	10426678	10426678	+	5'UTR	SNP	G	G	T	rs369997351	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:10426678G>T	ENST00000393708.3	-	0	13				FDX1L_ENST00000541276.1_Missense_Mutation_p.H2N|CTD-2369P2.10_ENST00000452032.2_5'UTR|FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000494368.1_5'UTR|CTD-2369P2.12_ENST00000586529.1_Intron	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like						oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GCCATGACATGCATCACGTGA	0.632																																																	0													19.0	19.0	19.0					19																	10426678		2202	4295	6497	SO:0001623	5_prime_UTR_variant	0			AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299	ENST00000393708.3:c.-6C>A	19.37:g.10426678G>T			Q8N8B8	Missense_Mutation	SNP	pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type	p.H2N	ENST00000393708.3	37	c.4	CCDS32905.1	19	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315445	0.23908	.	.	ENSG00000167807	ENST00000541276	.	.	.	4.82	-0.202	0.13208	.	0.323678	0.15648	U	0.251521	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13442	-1.0509	6	0.21014	T	0.42	.	4.23	0.10599	0.301:0.1708:0.5282:0.0	.	.	.	.	N	2	.	ENSP00000441093:H2N	H	-	1	0	FDX1L	10287678	0.847000	0.29606	0.981000	0.43875	0.077000	0.17291	0.291000	0.18994	0.462000	0.27095	0.462000	0.41574	CAT	FDX1L	-	NULL		0.632	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000167807	Uniprot_genename	protein_coding	OTTHUMT00000280567.2	G			10426678	-1	no_errors	ENST00000541276	ensembl	human	known	70_37	missense	SNP	0.938	T
AL033381.1	0	genome.wustl.edu	37	6	1102063	1102063	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:1102063A>C	ENST00000314040.1	+	3	317	c.47A>C	c.(46-48)gAa>gCa	p.E16A																								CCACGGCCCGAAGTGTCAGTT	0.423																																																	0																																										SO:0001583	missense	0																														ENST00000314040.1:c.47A>C	6.37:g.1102063A>C	ENSP00000320396:p.Glu16Ala			Missense_Mutation	SNP	NULL	p.E16A	ENST00000314040.1	37	c.47		6	.	.	.	.	.	.	.	.	.	.	A	4.569	0.105689	0.08780	.	.	ENSG00000176515	ENST00000314040	.	.	.	3.17	2.01	0.26516	.	.	.	.	.	T	0.31071	0.0785	.	.	.	.	.	.	.	.	.	.	.	.	T	0.22941	-1.0202	4	0.87932	D	0	.	5.0998	0.14753	0.8634:0.0:0.1366:0.0	.	.	.	.	A	16	.	ENSP00000320396:E16A	E	+	2	0	AL033381.1	1047063	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.289000	0.18957	0.616000	0.30141	0.460000	0.39030	GAA	AL033381.1	-	NULL		0.423	AL033381.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000176515	Clone_based_ensembl_gene	protein_coding		A			1102063	+1	no_errors	ENST00000314040	ensembl	human	known	70_37	missense	SNP	0.001	C
Unknown	0	genome.wustl.edu	37	10	124489008	124489008	+	IGR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:124489008T>G								C10orf120 (29670 upstream) : RP11-318C4.2 (27201 downstream)																							GAGGTGTATTTTGAAGGCGTG	0.582																																																	0																																										SO:0001628	intergenic_variant	0																															10.37:g.124489008T>G				RNA	SNP	-	NULL		37	NULL		10																																																																																			RP11-107C16.2	-	-	0	0.582					ENSG00000176584	Clone_based_vega_gene			T			124489008	+1	no_errors	ENST00000435147	ensembl	human	known	70_37	rna	SNP	0.033	G
OR52B1P	81274	genome.wustl.edu	37	11	6173776	6173776	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:6173776A>C	ENST00000316506.1	-	1	42	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V	RP11-290F24.3_ENST00000529961.1_RNA					olfactory receptor, family 52, subfamily B, member 1 pseudogene																		TTAGCACCAAACATGCCTTCT	0.433																																																	0																																										SO:0001583	missense	0					11p15.4	2013-09-24			ENSG00000180909	ENSG00000180909		"""GPCR / Class A : Olfactory receptors"""	15206	pseudogene	pseudogene							Standard	NG_004225		Approved					ENST00000316506.1:c.43T>G	11.37:g.6173776A>C	ENSP00000321133:p.Phe15Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F15V	ENST00000316506.1	37	c.43		11	.	.	.	.	.	.	.	.	.	.	A	5.423	0.263226	0.10294	.	.	ENSG00000180909	ENST00000316506	T	0.37058	1.22	3.44	0.859	0.19036	.	1.650940	0.04543	U	0.388533	T	0.17109	0.0411	.	.	.	.	.	.	.	.	.	.	.	.	T	0.17531	-1.0366	6	0.16896	T	0.51	.	2.1423	0.03778	0.5957:0.0:0.1493:0.255	.	.	.	.	V	15	ENSP00000321133:F15V	ENSP00000321133:F15V	F	-	1	0	AC022762.1	6130352	0.000000	0.05858	0.817000	0.32601	0.030000	0.12068	-2.689000	0.00832	0.555000	0.29079	0.524000	0.50904	TTT	AC022762.1	-	NULL		0.433	OR52B1P-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000180909	Clone_based_ensembl_gene	protein_coding		A			6173776	-1	no_errors	ENST00000316506	ensembl	human	known	70_37	missense	SNP	0.257	C
RP11-24M17.5	0	genome.wustl.edu	37	15	76074681	76074681	+	RNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:76074681G>T	ENST00000395215.3	+	0	753				RN7SL319P_ENST00000480656.2_RNA																							ACATATAAAAGAAGAGAGGGC	0.502																																																	0																																												0																															15.37:g.76074681G>T				RNA	SNP	-	NULL	ENST00000395215.3	37	NULL		15	.	.	.	.	.	.	.	.	.	.	.	3.134	-0.177834	0.06380	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.723	0.723	0.18231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.3384	0.26623	1.0E-4:0.0:0.9999:0.0	.	.	.	.	X	238	.	ENSP00000378641:E238X	E	+	1	0	AC019294.2	73861736	0.999000	0.42202	0.003000	0.11579	0.016000	0.09150	2.338000	0.43957	0.701000	0.31803	0.152000	0.16155	GAA	RP11-24M17.5	-	-		0.502	RP11-24M17.5-001	KNOWN	basic	processed_transcript	ENSG00000187812	Clone_based_vega_gene	pseudogene	OTTHUMT00000420501.1	G			76074681	+1	no_errors	ENST00000395215	ensembl	human	known	70_37	rna	SNP	0.997	T
ZNF788	388507	genome.wustl.edu	37	19	12222913	12222913	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:12222913G>A	ENST00000339302.4	+	3	1188	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	ZNF788_ENST00000430298.2_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000397759.3_5'Flank			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788	184					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(1)|haematopoietic_and_lymphoid_tissue(1)	2						AATTCCATTCGATATCATGAA	0.428																																					Melanoma(116;440 1644 18510 25456 49479)												0																																										SO:0001583	missense	0			AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.551G>A	19.37:g.12222913G>A	ENSP00000342021:p.Arg184Gln		Q6ZRE4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R184Q	ENST00000339302.4	37	c.551		19	.	.	.	.	.	.	.	.	.	.	G	4.114	0.019338	0.08006	.	.	ENSG00000188474	ENST00000339302	T	0.20598	2.06	0.681	-1.36	0.09085	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09730	0.0239	.	.	.	.	.	.	B	0.11235	0.004	B	0.09377	0.004	T	0.38178	-0.9673	7	0.17369	T	0.5	.	3.0671	0.06218	0.4899:0.0:0.1782:0.3319	.	184	Q6ZQV5	ZN788_HUMAN	Q	184	ENSP00000342021:R184Q	ENSP00000342021:R184Q	R	+	2	0	AC022415.1	12083913	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-7.545000	0.00034	-1.926000	0.01061	-0.643000	0.03959	CGA	ZNF788	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000188474	Uniprot_genename	protein_coding		G	XM_930581		12222913	+1	no_errors	ENST00000339302	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF788	388507	genome.wustl.edu	37	19	12223607	12223607	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:12223607G>T	ENST00000339302.4	+	3	1882	c.1245G>T	c.(1243-1245)gaG>gaT	p.E415D	ZNF788_ENST00000430298.2_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000397759.3_Missense_Mutation_p.E34D			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788	415					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(1)|haematopoietic_and_lymphoid_tissue(1)	2						ACACTGGAGAGAACCCCTATG	0.418																																					Melanoma(116;440 1644 18510 25456 49479)												0																																										SO:0001583	missense	0			AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.1245G>T	19.37:g.12223607G>T	ENSP00000342021:p.Glu415Asp		Q6ZRE4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E415D	ENST00000339302.4	37	c.1245		19	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565807	0.27915	.	.	ENSG00000188474	ENST00000339302;ENST00000397759	T;T	0.26810	1.71;1.71	0.808	-0.526	0.11913	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18467	0.0443	.	.	.	.	.	.	B	0.13594	0.008	B	0.15052	0.012	T	0.16867	-1.0388	7	0.59425	D	0.04	.	7.5343	0.27702	0.0:0.2715:0.7284:0.0	.	415	Q6ZQV5	ZN788_HUMAN	D	415;34	ENSP00000342021:E415D;ENSP00000380866:E34D	ENSP00000342021:E415D	E	+	3	2	AC022415.1	12084607	0.298000	0.24417	0.018000	0.16275	0.194000	0.23727	0.219000	0.17641	-0.140000	0.11394	0.462000	0.41574	GAG	ZNF788	-	pfscan_Znf_C2H2		0.418	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000188474	Uniprot_genename	protein_coding		G	XM_930581		12223607	+1	no_errors	ENST00000339302	ensembl	human	known	70_37	missense	SNP	1.000	T
MAPRE3	22924	genome.wustl.edu	37	2	27235801	27235801	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:27235801A>C	ENST00000233121.2	+	2	191				AC013472.3_ENST00000411685.2_RNA|MAPRE3_ENST00000402218.1_5'Flank|AC013472.3_ENST00000380387.3_RNA|AC013472.3_ENST00000455081.2_RNA|MAPRE3_ENST00000491354.1_Intron|MAPRE3_ENST00000405074.3_Intron			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3						mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTAGGCTAAACAATTCACA	0.498																																																	0																																										SO:0001627	intron_variant	0			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.-7-9279A>C	2.37:g.27235801A>C			B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	RNA	SNP	-	NULL	ENST00000233121.2	37	NULL	CCDS1731.1	2																																																																																			AC013472.3	-	-		0.498	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000205500	Clone_based_vega_gene	protein_coding	OTTHUMT00000214183.1	A	NM_012326		27235801	-1	no_errors	ENST00000380387	ensembl	human	known	70_37	rna	SNP	0.000	C
AL359878.1	0	genome.wustl.edu	37	10	1018611	1018611	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:1018611A>G	ENST00000381466.1	-	2	360	c.261T>C	c.(259-261)caT>caC	p.H87H																								GGTATGAAGTATGCACTTGCT	0.388																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000381466.1:c.261T>C	10.37:g.1018611A>G				Silent	SNP	NULL	p.H87	ENST00000381466.1	37	c.261		10																																																																																			AL359878.1	-	NULL		0.388	AL359878.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000205740	Clone_based_ensembl_gene	protein_coding		A			1018611	-1	no_errors	ENST00000381466	ensembl	human	known	70_37	silent	SNP	0.000	G
CASS4	57091	genome.wustl.edu	37	20	55035354	55035354	+	IGR	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:55035354C>T	ENST00000360314.3	+	0	2619				AL121914.1_ENST00000390795.2_RNA	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4						cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						aaagtaattgcggtttttgcc	0.299																																																	0																																										SO:0001628	intergenic_variant	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788		20.37:g.55035354C>T			E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	RNA	SNP	-	NULL	ENST00000360314.3	37	NULL	CCDS33492.1	20																																																																																			AL121914.1	-	-		0.299	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000212084	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000079789.2	C	NM_020356		55035354	-1	no_errors	ENST00000390795	ensembl	human	novel	70_37	rna	SNP	0.004	T
ZNF971P	100419895	genome.wustl.edu	37	16	34681520	34681520	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:34681520C>A	ENST00000568619.1	-	0	959																											GGTGTGAGTTCTTTGATGGCT	0.388																																																	0																																												0																															16.37:g.34681520C>A				RNA	SNP	-	NULL	ENST00000568619.1	37	NULL		16	.	.	.	.	.	.	.	.	.	.	c	0.081	-1.183855	0.01620	.	.	ENSG00000214581	ENST00000398617	.	.	.	0.263	-0.526	0.11913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4269	0.02325	0.3424:0.3342:0.0:0.3235	.	.	.	.	X	109	.	.	E	-	1	0	AC018558.1	34539021	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.421000	0.07053	-0.849000	0.04158	-0.883000	0.02948	GAA	RP11-80F22.10	-	-		0.388	RP11-80F22.10-002	KNOWN	basic	processed_transcript	ENSG00000214581	Clone_based_vega_gene	pseudogene	OTTHUMT00000431371.1	C			34681520	-1	no_errors	ENST00000568619	ensembl	human	known	70_37	rna	SNP	0.050	A
ZNF663P	100130934	genome.wustl.edu	37	20	45085177	45085177	+	RNA	SNP	G	G	T	rs143372305	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:45085177G>T	ENST00000400371.2	-	0	1341									zinc finger protein 663, pseudogene																		TTTTCTTACAGAAGCTTTCTC	0.398																																																	0																																												0					20q13.12	2014-03-13	2013-09-26	2013-09-26	ENSG00000215452	ENSG00000215452		"""Zinc fingers, C2H2-type"""	25342	pseudogene	pseudogene			"""zinc finger protein 663"""	ZNF663			Standard	NR_045983		Approved	DKFZp547G0215	uc031rtv.1		OTTHUMG00000032648		20.37:g.45085177G>T				RNA	SNP	-	NULL	ENST00000400371.2	37	NULL		20																																																																																			RP5-981L23.1	-	-		0.398	ZNF663P-002	KNOWN	basic	processed_transcript	ENSG00000215452	Clone_based_vega_gene	pseudogene	OTTHUMT00000079571.1	G	NM_173643		45085177	-1	no_errors	ENST00000400371	ensembl	human	known	70_37	rna	SNP	0.054	T
EDIL3	10085	genome.wustl.edu	37	5	83269617	83269617	+	Intron	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:83269617A>G	ENST00000296591.5	-	10	1556				EDIL3_ENST00000380138.3_Intron|AC109496.1_ENST00000401306.2_RNA	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3						cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TAAGAACTGAAAATAtaggtt	0.323																																																	0																																										SO:0001627	intron_variant	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1138-10438T>C	5.37:g.83269617A>G			B2R763|O43855|Q5D094|Q8N610	RNA	SNP	-	NULL	ENST00000296591.5	37	NULL	CCDS4062.1	5																																																																																			AC109496.1	-	-		0.323	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000216125	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000239258.1	A	NM_005711		83269617	-1	no_errors	ENST00000401306	ensembl	human	novel	70_37	rna	SNP	0.007	G
AC116562.1	0	genome.wustl.edu	37	4	4086170	4086170	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:4086170C>A	ENST00000408374.1	+	0	110																											agcctaGTATCTTTTCTCCGG	0.403																																																	0																																												0																															4.37:g.4086170C>A				RNA	SNP	-	NULL	ENST00000408374.1	37	NULL		4																																																																																			AC116562.1	-	-		0.403	AC116562.1-201	NOVEL	basic	miRNA	ENSG00000221301	Clone_based_ensembl_gene	miRNA		C			4086170	+1	no_errors	ENST00000408374	ensembl	human	novel	70_37	rna	SNP	0.030	A
AL357519.1	0	genome.wustl.edu	37	6	114026116	114026117	+	RNA	INS	-	-	A	rs201977270		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:114026116_114026117insA	ENST00000408632.2	+	0	82_83																											GTTGAGAGGGGAAAAAAAAATC	0.391																																																	0																																												0																															6.37:g.114026125_114026125dupA				RNA	INS	-	NULL	ENST00000408632.2	37	NULL		6																																																																																			AL357519.1	-	-		0.391	AL357519.1-201	NOVEL	basic	miRNA	ENSG00000221559	Clone_based_ensembl_gene	miRNA		-			114026117	+1	no_errors	ENST00000408632	ensembl	human	novel	70_37	rna	INS	0.000:0.000	A
AL136160.1	0	genome.wustl.edu	37	13	37302763	37302763	+	RNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:37302763G>T	ENST00000410670.1	-	0	66																											ttaatatattgccattacttc	0.284																																																	0																																												0																															13.37:g.37302763G>T				RNA	SNP	-	NULL	ENST00000410670.1	37	NULL		13																																																																																			AL136160.1	-	-		0.284	AL136160.1-201	NOVEL	basic	miRNA	ENSG00000222602	Clone_based_ensembl_gene	miRNA		G			37302763	-1	no_errors	ENST00000410670	ensembl	human	novel	70_37	rna	SNP	0.047	T
LOC100240728	100240728	genome.wustl.edu	37	7	56550040	56550040	+	lincRNA	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:56550040G>A	ENST00000436042.1	-	0	430																											ccagaaaggcgtcccatgGAG	0.438																																																	0																																												0																															7.37:g.56550040G>A				RNA	SNP	-	NULL	ENST00000436042.1	37	NULL		7																																																																																			RP11-760D2.1	-	-		0.438	RP11-760D2.1-001	KNOWN	basic	lincRNA	ENSG00000225488	Clone_based_vega_gene	lincRNA	OTTHUMT00000343749.1	G			56550040	-1	no_errors	ENST00000436042	ensembl	human	known	70_37	rna	SNP	0.004	A
MARK1	4139	genome.wustl.edu	37	1	220836011	220836011	+	3'UTR	SNP	T	T	G	rs386639587		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:220836011T>G	ENST00000366918.4	+	0	3377				RP11-322F10.2_ENST00000446040.1_RNA|MARK1_ENST00000402574.1_3'UTR					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ttatttaaatttaaaCCAGAA	0.284																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366918.4:c.*503T>G	1.37:g.220836011T>G				RNA	SNP	-	NULL	ENST00000366918.4	37	NULL		1																																																																																			RP11-322F10.2	-	-		0.284	MARK1-001	KNOWN	basic	protein_coding	ENSG00000225782	Clone_based_vega_gene	protein_coding	OTTHUMT00000090898.2	T			220836011	-1	no_errors	ENST00000446040	ensembl	human	known	70_37	rna	SNP	0.088	G
ST7	7982	genome.wustl.edu	37	7	116607365	116607365	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:116607365A>C	ENST00000420664.1	-	1	161	c.111T>G	c.(109-111)atT>atG	p.I37M	ST7_ENST00000323984.3_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000393446.2_Intron|ST7_ENST00000265437.5_Intron|ST7-OT4_ENST00000397751.1_Intron|ST7_ENST00000393449.1_Intron|ST7-OT4_ENST00000466018.1_Intron																							GGTGGCCATTAATGACCAATT	0.517																																																	0																																										SO:0001583	missense	0																														ENST00000420664.1:c.111T>G	7.37:g.116607365A>C	ENSP00000392477:p.Ile37Met			Missense_Mutation	SNP	NULL	p.I37M	ENST00000420664.1	37	c.111		7	.	.	.	.	.	.	.	.	.	.	A	6.660	0.490327	0.12702	.	.	ENSG00000228368	ENST00000420664	.	.	.	1.71	-0.916	0.10489	.	.	.	.	.	T	0.36717	0.0977	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39683	-0.9602	5	0.87932	D	0	.	4.33	0.11059	0.5972:0.0:0.4028:0.0	.	.	.	.	M	37	.	ENSP00000392477:I37M	I	-	3	3	AC106873.4	116394601	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.470000	0.06639	-0.255000	0.09486	0.254000	0.18369	ATT	AC106873.4	-	NULL		0.517	AC106873.4-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000228368	Clone_based_vega_gene	protein_coding	OTTHUMT00000315765.1	A			116607365	-1	no_errors	ENST00000420664	ensembl	human	putative	70_37	missense	SNP	0.002	C
RP11-782C8.1	0	genome.wustl.edu	37	1	143232870	143232870	+	lincRNA	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:143232870T>G	ENST00000438000.1	+	0	1239				RP11-782C8.5_ENST00000427309.1_lincRNA																							gccagctactttgttaactat	0.408																																																	0																																												0																															1.37:g.143232870T>G				RNA	SNP	-	NULL	ENST00000438000.1	37	NULL		1																																																																																			BX571672.1	-	-		0.408	RP11-782C8.1-002	KNOWN	basic	lincRNA	ENSG00000230850	Clone_based_vega_gene	lincRNA	OTTHUMT00000037560.1	T			143232870	+1	no_errors	ENST00000438000	ensembl	human	known	70_37	rna	SNP	0.004	G
UPK3B	80761	genome.wustl.edu	37	7	76532277	76532277	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:76532277T>G	ENST00000419923.2	+	6	1408				AC007003.1_ENST00000472463.1_RNA|UPK3B_ENST00000443097.2_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B						negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				ACCTGAAATCTTCATAACCCT	0.408																																																	0																																										SO:0001627	intron_variant	0			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000419923.2:c.961-115864T>G	7.37:g.76532277T>G			A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	RNA	SNP	-	NULL	ENST00000419923.2	37	NULL	CCDS5588.1	7																																																																																			AC007003.1	-	-		0.408	UPK3B-201	KNOWN	basic|CCDS	protein_coding	ENSG00000231183	Clone_based_vega_gene	protein_coding		T	NM_030570		76532277	+1	no_errors	ENST00000472463	ensembl	human	known	70_37	rna	SNP	0.003	G
SNHG24	101929369	genome.wustl.edu	37	14	101433370	101433370	+	lincRNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:101433370A>C	ENST00000554693.2	+	0	0				SNORD114-13_ENST00000364377.1_RNA|SNORD114-11_ENST00000363738.1_RNA|SNORD114-12_ENST00000365400.1_RNA|SNORD114-9_ENST00000364370.1_RNA|AL132709.8_ENST00000423708.3_lincRNA|SNORD114-10_ENST00000363409.1_RNA																							CAAGGTAGAAATGAATAGCAA	0.328																																																	0													53.0	52.0	52.0					14																	101433370		876	1991	2867			0																															14.37:g.101433370A>C				RNA	SNP	-	NULL	ENST00000554693.2	37	NULL		14																																																																																			AL132709.8	-	-		0.328	RP11-909M7.3-001	KNOWN	basic	lincRNA	ENSG00000232018	Clone_based_vega_gene	lincRNA	OTTHUMT00000468646.1	A			101433370	+1	no_errors	ENST00000442197	ensembl	human	known	70_37	rna	SNP	0.000	C
RP11-782C8.2	0	genome.wustl.edu	37	1	143189660	143189660	+	lincRNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:143189660C>A	ENST00000412204.2	-	0	2449				RP11-782C8.3_ENST00000425124.1_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCATTAATTCTAATTGTGTT	0.303																																																	0																																												0																															1.37:g.143189660C>A				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			BX571672.3	-	-		0.303	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232336	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	C			143189660	+1	no_errors	ENST00000425124	ensembl	human	known	70_37	rna	SNP	0.003	A
RP11-782C8.2	0	genome.wustl.edu	37	1	143207812	143207812	+	lincRNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:143207812G>T	ENST00000412204.2	-	0	1705				RP11-782C8.1_ENST00000438000.1_lincRNA																							TTCCAGTGGAGACTCTAACAT	0.338																																																	0																																												0																															1.37:g.143207812G>T				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			BX571672.2	-	-		0.338	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	G			143207812	-1	no_errors	ENST00000412204	ensembl	human	known	70_37	rna	SNP	0.803	T
TBX18	9096	genome.wustl.edu	37	6	85398365	85398365	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:85398365C>A	ENST00000606784.1	-	8	857	c.646G>T	c.(646-648)Gac>Tac	p.D216Y	RP11-132M7.3_ENST00000589304.1_RNA|RP11-132M7.3_ENST00000590270.1_RNA|RP11-132M7.3_ENST00000591225.1_RNA|RP11-132M7.3_ENST00000587281.1_RNA|RP11-132M7.3_ENST00000586398.1_RNA|RP11-132M7.3_ENST00000423086.1_RNA|RP11-132M7.3_ENST00000592681.1_RNA			O95935	TBX18_HUMAN	T-box 18	0					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AAAATGTAGTCTGTCTTCAAG	0.458																																																	0																																										SO:0001583	missense	0			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000606784.1:c.646G>T	6.37:g.85398365C>A	ENSP00000475873:p.Asp216Tyr		A2RU13|Q7Z6U4|Q9UJI6	RNA	SNP	-	NULL	ENST00000606784.1	37	NULL		6	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757287	0.49468	.	.	ENSG00000112837	ENST00000416980	.	.	.	5.13	1.05	0.20165	.	.	.	.	.	T	0.14614	0.0353	.	.	.	.	.	.	B	0.18013	0.025	B	0.08055	0.003	T	0.09357	-1.0678	6	0.62326	D	0.03	.	4.083	0.09935	0.1604:0.5742:0.0:0.2654	.	290	Q8IW86	.	Y	289	.	ENSP00000415771:D289Y	D	-	1	0	TBX18	85455084	0.000000	0.05858	0.005000	0.12908	0.869000	0.49853	-0.508000	0.06344	0.270000	0.21984	0.557000	0.71058	GAC	RP11-132M7.1	-	-		0.458	TBX18-006	PUTATIVE	basic	protein_coding	ENSG00000233513	Clone_based_vega_gene	protein_coding	OTTHUMT00000470364.1	C	NM_001080508		85398365	-1	no_errors	ENST00000330469	ensembl	human	putative	70_37	rna	SNP	0.006	A
SVILP1	645954	genome.wustl.edu	37	10	30986417	30986417	+	RNA	SNP	C	C	T	rs540277136	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:30986417C>T	ENST00000435645.1	+	0	407									supervillin pseudogene 1																		TAGGAGAGTTCGCAAACGCCA	0.532													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20660	0.0		0.0	False		,,,				2504	0.0																0																																												0					10p11.23	2012-12-20			ENSG00000234814	ENSG00000234814			44959	pseudogene	pseudogene							Standard	NR_036438		Approved				OTTHUMG00000017900		10.37:g.30986417C>T				RNA	SNP	-	NULL	ENST00000435645.1	37	NULL		10																																																																																			RP11-14C22.4	-	-		0.532	SVILP1-002	KNOWN	basic	processed_transcript	ENSG00000234814	Clone_based_vega_gene	pseudogene	OTTHUMT00000331601.1	C			30986417	+1	no_errors	ENST00000435645	ensembl	human	known	70_37	rna	SNP	0.989	T
RP11-435B5.5	0	genome.wustl.edu	37	1	143391835	143391835	+	lincRNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:143391835G>T	ENST00000428624.1	+	0	2051				RP11-435B5.4_ENST00000423249.1_lincRNA																							AAAATTAGAAGAAATCCATTT	0.294																																																	0																																												0																															1.37:g.143391835G>T				RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			BX004987.5	-	-		0.294	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	G			143391835	+1	no_errors	ENST00000412492	ensembl	human	known	70_37	rna	SNP	0.999	T
RP11-435B5.5	0	genome.wustl.edu	37	1	143392513	143392513	+	lincRNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:143392513G>T	ENST00000428624.1	+	0	2136				RP11-435B5.4_ENST00000423249.1_lincRNA																							TAAATAAGAAGGAACTCACAC	0.313																																																	0																																												0																															1.37:g.143392513G>T				RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			BX004987.5	-	-		0.313	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	G			143392513	+1	no_errors	ENST00000415543	ensembl	human	known	70_37	rna	SNP	0.429	T
CCDC88A	55704	genome.wustl.edu	37	2	55566942	55566942	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:55566942G>T	ENST00000436346.1	-	13	2175				AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Intron|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Intron|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000413716.2_Intron|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A						activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CAAGATAAAAGAAGTAAATCT	0.323																																																	0																																										SO:0001627	intron_variant	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1334-158C>A	2.37:g.55566942G>T			A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	RNA	SNP	-	NULL	ENST00000436346.1	37	NULL		2																																																																																			AC012358.8	-	-		0.323	CCDC88A-203	KNOWN	basic	protein_coding	ENSG00000240401	Clone_based_vega_gene	protein_coding		G	NM_017571		55566942	+1	no_errors	ENST00000599475	ensembl	human	known	70_37	rna	SNP	0.000	T
LNPEP	4012	genome.wustl.edu	37	5	96271297	96271297	+	5'UTR	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:96271297G>A	ENST00000231368.5	+	0	130				CTD-2260A17.2_ENST00000501338.1_5'UTR|LNPEP_ENST00000395784.1_3'UTR	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GTCTAACCAAGCCATCCGAAT	0.537																																																	0																																										SO:0001623	5_prime_UTR_variant	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.-563G>A	5.37:g.96271297G>A			O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	RNA	SNP	-	NULL	ENST00000231368.5	37	NULL	CCDS4087.1	5																																																																																			CTD-2260A17.2	-	-		0.537	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000247121	Clone_based_vega_gene	protein_coding	OTTHUMT00000250624.1	G	NM_005575		96271297	-1	no_errors	ENST00000501338	ensembl	human	known	70_37	rna	SNP	0.001	A
SAMD13	148418	genome.wustl.edu	37	1	84810492	84810492	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:84810492G>T	ENST00000370671.3	+	4	284				SAMD13_ENST00000394834.3_Intron|SAMD13_ENST00000370673.3_Intron|RP11-376N17.4_ENST00000505585.1_RNA|SAMD13_ENST00000370667.3_5'Flank|SAMD13_ENST00000370669.1_Intron|SAMD13_ENST00000370670.2_Intron|SAMD13_ENST00000370668.3_Intron			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13											lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CATCTGAGGAGAAATTCAAAC	0.458																																																	0																																										SO:0001627	intron_variant	0				CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"""Sterile alpha motif (SAM) domain containing"""	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859	ENST00000370671.3:c.226-4822G>T	1.37:g.84810492G>T			B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	RNA	SNP	-	NULL	ENST00000370671.3	37	NULL		1																																																																																			RP11-376N17.4	-	-		0.458	SAMD13-003	KNOWN	basic	protein_coding	ENSG00000249237	Clone_based_vega_gene	protein_coding	OTTHUMT00000027243.1	G	NM_001010971		84810492	+1	no_errors	ENST00000505585	ensembl	human	known	70_37	rna	SNP	1.000	T
IGFBP7	3490	genome.wustl.edu	37	4	57898509	57898509	+	Intron	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:57898509T>C	ENST00000295666.4	-	4	863				IGFBP7_ENST00000512512.1_Intron|IGFBP7_ENST00000537922.1_3'UTR	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7						cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AATAGCTACGTCTGATACTTT	0.333																																																	0																																										SO:0001627	intron_variant	0			S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.829+82A>G	4.37:g.57898509T>C			B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	RNA	SNP	-	NULL	ENST00000295666.4	37	NULL	CCDS3512.1	4																																																																																			RP11-738E22.2	-	-		0.333	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000250610	Clone_based_vega_gene	protein_coding	OTTHUMT00000250693.1	T			57898509	-1	no_errors	ENST00000514062	ensembl	human	known	70_37	rna	SNP	0.000	C
DDIT4L	115265	genome.wustl.edu	37	4	101111198	101111198	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:101111198A>C	ENST00000273990.2	-	2	166				RP11-15B17.1_ENST00000515026.1_RNA|RP11-588P8.1_ENST00000515782.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like						negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		CGCTGGAAAAAATGAGGCGAG	0.577																																																	0																																										SO:0001627	intron_variant	0			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.49-9T>G	4.37:g.101111198A>C			B2R7C3	RNA	SNP	-	NULL	ENST00000273990.2	37	NULL	CCDS34036.1	4																																																																																			RP11-588P8.1	-	-		0.577	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000249710	Clone_based_vega_gene	protein_coding	OTTHUMT00000363423.1	A	NM_145244		101111198	+1	no_errors	ENST00000515782	ensembl	human	known	70_37	rna	SNP	0.015	C
PDE10A	10846	genome.wustl.edu	37	6	166355808	166355808	+	Intron	SNP	G	G	A	rs367658943		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:166355808G>A	ENST00000535229.1	-	1	389				AL590482.1_ENST00000516387.1_RNA			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	acatatatGCGCACACACACA	0.353																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0																																										SO:0001627	intron_variant	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000535229.1:c.1655+43787C>T	6.37:g.166355808G>A			Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	RNA	SNP	-	NULL	ENST00000535229.1	37	NULL		6																																																																																			AL590482.1	-	-		0.353	PDE10A-004	KNOWN	mRNA_end_NF|basic	processed_transcript	ENSG00000252196	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000470299.1	G			166355808	-1	no_errors	ENST00000516387	ensembl	human	novel	70_37	rna	SNP	0.001	A
CLVS1	157807	genome.wustl.edu	37	8	62212931	62212931	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:62212931G>A	ENST00000519846.1	+	3	927				RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1						lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TATGTAATGGGCTTTCATTAA	0.358																																																	0																																										SO:0001627	intron_variant	0			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.455+90G>A	8.37:g.62212931G>A			B2R7M5|C8UZT3|Q8NB32	RNA	SNP	-	NULL	ENST00000519846.1	37	NULL	CCDS6176.1	8																																																																																			RP11-787D18.1	-	-		0.358	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000253711	Clone_based_vega_gene	protein_coding	OTTHUMT00000378323.1	G	NM_173519		62212931	-1	no_errors	ENST00000518064	ensembl	human	known	70_37	rna	SNP	0.000	A
RP11-281O15.4	0	genome.wustl.edu	37	5	178396617	178396617	+	RNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:178396617A>C	ENST00000519491.1	+	0	227																											GTAGTACACAAGACTGCTCTG	0.567																																																	0																																												0																															5.37:g.178396617A>C				RNA	SNP	-	NULL	ENST00000519491.1	37	NULL		5	.	.	.	.	.	.	.	.	.	.	A	6.099	0.386596	0.11524	.	.	ENSG00000113262	ENST00000319065	.	.	.	2.19	2.19	0.27852	.	.	.	.	.	T	0.48537	0.1505	.	.	.	0.09310	N	1.0	.	.	.	.	.	.	T	0.60031	-0.7342	4	0.87932	D	0	.	6.3269	0.21248	1.0:0.0:0.0:0.0	.	.	.	.	R	960	.	ENSP00000325675:L960R	L	-	2	0	GRM6	178329223	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.225000	0.09151	1.248000	0.43934	0.454000	0.30748	CTT	RP11-281O15.4	-	-		0.567	RP11-281O15.4-001	KNOWN	basic|exp_conf	antisense	ENSG00000254035	Clone_based_vega_gene	antisense	OTTHUMT00000374376.1	A			178396617	+1	no_errors	ENST00000519491	ensembl	human	putative	70_37	rna	SNP	0.002	C
ZBTB8B	728116	genome.wustl.edu	37	1	32946572	32946572	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:32946572C>T	ENST00000609129.1	+	3	1150	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	RP1-27O5.3_ENST00000480336.1_Missense_Mutation_p.R358W	NM_001145720.1	NP_001139192.1	Q8NAP8	ZBT8B_HUMAN	zinc finger and BTB domain containing 8B	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)	1						CATCCTCAAGCGGCACATCCG	0.582																																																	0													94.0	79.0	83.0					1																	32946572		692	1591	2283	SO:0001583	missense	0			AL442095	CCDS44104.1	1p35.1	2013-01-08			ENSG00000215897	ENSG00000273274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	37057	protein-coding gene	gene with protein product							Standard	NM_001145720		Approved	RP1-27O5.1, DKFZp547H154, ZNF916B	uc001bvl.4	Q8NAP8	OTTHUMG00000167087	ENST00000609129.1:c.1072C>T	1.37:g.32946572C>T	ENSP00000476499:p.Arg358Trp		Q15DG5|Q5VXR5|Q69YT7	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R358W	ENST00000609129.1	37	c.1072	CCDS44104.1	1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825891	0.71143	.	.	ENSG00000215897	ENST00000415091	T	0.26660	1.72	5.45	4.53	0.55603	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.91038	3.17	0.45035	D	0.998053	D	0.76494	0.999	D	0.71870	0.975	T	0.70513	-0.4851	10	0.87932	D	0	.	14.9891	0.71371	0.1437:0.8563:0.0:0.0	.	358	Q8NAP8	ZBT8B_HUMAN	W	358	ENSP00000400836:R358W	ENSP00000435749:R358W	R	+	1	2	ZBTB8B	32719159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.917000	0.28665	1.427000	0.47276	-0.181000	0.13052	CGG	RP1-27O5.3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.582	ZBTB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254553	Clone_based_vega_gene	protein_coding	OTTHUMT00000392986.2	C	NM_001145720		32946572	+1	no_errors	ENST00000480336	ensembl	human	known	70_37	missense	SNP	1.000	T
CD82	3732	genome.wustl.edu	37	11	44626589	44626589	+	Intron	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:44626589T>C	ENST00000227155.4	+	5	384				RP11-58K22.5_ENST00000533814.1_RNA|CD82_ENST00000342935.3_Intron|CD82_ENST00000530931.1_Intron|RP11-58K22.4_ENST00000532524.1_RNA	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule							extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				large_intestine(1)|ovary(1)	2						ACTGATTTTGTACTTCTTCTT	0.562																																																	0													93.0	97.0	95.0					11																	44626589		2203	4299	6502	SO:0001627	intron_variant	0			U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.137-19T>C	11.37:g.44626589T>C			D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	RNA	SNP	-	NULL	ENST00000227155.4	37	NULL	CCDS7909.1	11																																																																																			RP11-58K22.5	-	-		0.562	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254693	Clone_based_vega_gene	protein_coding	OTTHUMT00000389886.1	T			44626589	-1	no_errors	ENST00000533814	ensembl	human	known	70_37	rna	SNP	0.000	C
CSNK2A3	283106	genome.wustl.edu	37	11	11374294	11374294	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:11374294A>C	ENST00000528848.2	-	1	610	c.373T>G	c.(373-375)Tac>Gac	p.Y125D	GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										AACGTCTGGTACAATTGCTTG	0.423																																																	0																																										SO:0001583	missense	0			X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.373T>G	11.37:g.11374294A>C	ENSP00000473553:p.Tyr125Asp			RNA	SNP	-	NULL	ENST00000528848.2	37	NULL	CCDS59224.1	11																																																																																			RP11-567I13.1	-	-		0.423	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ENSG00000255351	Clone_based_vega_gene	protein_coding	OTTHUMT00000385850.3	A	NM_001256686		11374294	+1	no_errors	ENST00000526867	ensembl	human	known	70_37	rna	SNP	1.000	C
RP11-313I2.11	0	genome.wustl.edu	37	11	89487150	89487150	+	lincRNA	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:89487150T>C	ENST00000527332.1	-	0	485																											TGTCTTTGGCTTACTTATAAG	0.408																																																	0													25.0	32.0	30.0					11																	89487150		1433	3964	5397			0																															11.37:g.89487150T>C				RNA	SNP	-	NULL	ENST00000527332.1	37	NULL		11																																																																																			RP11-313I2.11	-	-		0.408	RP11-313I2.11-001	KNOWN	basic	lincRNA	ENSG00000254971	Clone_based_vega_gene	lincRNA	OTTHUMT00000395428.1	T			89487150	-1	no_errors	ENST00000527332	ensembl	human	known	70_37	rna	SNP	0.000	C
KRT73	319101	genome.wustl.edu	37	12	53005146	53005146	+	Intron	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:53005146A>G	ENST00000305748.3	-	6	1019				RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73							extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AAGAACACTGACTCAGGGCTT	0.567																																																	0													66.0	60.0	62.0					12																	53005146		2203	4300	6503	SO:0001627	intron_variant	0			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.985-33T>C	12.37:g.53005146A>G			Q32MB2	RNA	SNP	-	NULL	ENST00000305748.3	37	NULL	CCDS8834.1	12																																																																																			RP11-641A6.2	-	-		0.567	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257495	Clone_based_vega_gene	protein_coding	OTTHUMT00000405700.1	A	NM_175068		53005146	+1	no_errors	ENST00000549180	ensembl	human	known	70_37	rna	SNP	0.000	G
SLC35F4	341880	genome.wustl.edu	37	14	58096891	58096891	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:58096891G>T	ENST00000556826.1	-	2	340				SLC35F4_ENST00000557430.1_Intron|CTD-2325K12.1_ENST00000600311.1_RNA	NM_001206920.1	NP_001193849.1	A4IF30	S35F4_HUMAN	solute carrier family 35, member F4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGATCAGAAGACACTAAATC	0.388																																																	0																																										SO:0001627	intron_variant	0					14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000556826.1:c.104-36049C>A	14.37:g.58096891G>T			A6NDQ3	RNA	SNP	-	NULL	ENST00000556826.1	37	NULL		14																																																																																			CTD-2325K12.1	-	-		0.388	SLC35F4-004	NOVEL	not_organism_supported|upstream_uORF|basic|appris_principal	protein_coding	ENSG00000258856	Clone_based_vega_gene	protein_coding	OTTHUMT00000412973.1	G	XM_292260		58096891	+1	no_errors	ENST00000600311	ensembl	human	known	70_37	rna	SNP	1.000	T
LOC101927079	101927079	genome.wustl.edu	37	15	22413492	22413492	+	IGR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:22413492G>T								RP11-69H14.6 (29684 upstream) : RP11-2F9.4 (20397 downstream)																							AGTGATAAGAGAATTCATCCT	0.383																																																	0																																										SO:0001628	intergenic_variant	0																															15.37:g.22413492G>T				RNA	SNP	-	NULL		37	NULL		15																																																																																			RP11-69H14.6	-	-	0	0.383					ENSG00000259176	Clone_based_vega_gene			G			22413492	+1	no_errors	ENST00000559392	ensembl	human	known	70_37	rna	SNP	0.568	T
RP11-133K1.6	0	genome.wustl.edu	37	15	40605391	40605391	+	lincRNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:40605391A>C	ENST00000559030.1	+	0	576																											CTTGGAGCCCACATTGCTGCT	0.522																																																	0																																												0																															15.37:g.40605391A>C				RNA	SNP	-	NULL	ENST00000559030.1	37	NULL		15																																																																																			RP11-133K1.6	-	-		0.522	RP11-133K1.6-001	KNOWN	basic	lincRNA	ENSG00000259198	Clone_based_vega_gene	lincRNA	OTTHUMT00000418442.1	A			40605391	+1	no_errors	ENST00000559030	ensembl	human	known	70_37	rna	SNP	1.000	C
RP11-1006G14.2	0	genome.wustl.edu	37	15	72900847	72900847	+	lincRNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:72900847C>A	ENST00000565305.1	-	0	419																											AACATGATTTCTTTCTTTGCT	0.512																																																	0																																												0																															15.37:g.72900847C>A				RNA	SNP	-	NULL	ENST00000565305.1	37	NULL		15																																																																																			RP11-1006G14.2	-	-		0.512	RP11-1006G14.2-001	KNOWN	basic	lincRNA	ENSG00000259783	Clone_based_vega_gene	lincRNA	OTTHUMT00000422130.1	C			72900847	-1	no_errors	ENST00000565305	ensembl	human	known	70_37	rna	SNP	0.009	A
DNM1P47	100216544	genome.wustl.edu	37	15	102313382	102313382	+	RNA	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:102313382T>G	ENST00000561463.1	+	0	14750				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		ACAAGGGGGGTACTGTGGGCC	0.567																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102313382T>G				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.567	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	T	NG_009149		102313382	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	0.000	G
RP11-44F14.1	0	genome.wustl.edu	37	16	53403659	53403659	+	RNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:53403659G>T	ENST00000565421.1	-	0	958																											CAGATACTTAGAACTTCCAAA	0.269																																																	0																																												0																															16.37:g.53403659G>T				RNA	SNP	-	NULL	ENST00000565421.1	37	NULL		16																																																																																			RP11-44F14.1	-	-		0.269	RP11-44F14.1-002	KNOWN	basic	retained_intron	ENSG00000260078	Clone_based_vega_gene	pseudogene	OTTHUMT00000422364.2	G			53403659	-1	no_errors	ENST00000565421	ensembl	human	known	70_37	rna	SNP	0.045	T
RP11-33B1.4	0	genome.wustl.edu	37	4	120331369	120331369	+	lincRNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:120331369A>C	ENST00000567343.1	+	0	882																											tatctaataaaataattatag	0.413																																																	0																																												0																															4.37:g.120331369A>C				RNA	SNP	-	NULL	ENST00000567343.1	37	NULL		4																																																																																			RP11-33B1.4	-	-		0.413	RP11-33B1.4-001	KNOWN	basic	lincRNA	ENSG00000260091	Clone_based_vega_gene	lincRNA	OTTHUMT00000431484.1	A			120331369	+1	no_errors	ENST00000567343	ensembl	human	known	70_37	rna	SNP	0.054	C
XYLT1	64131	genome.wustl.edu	37	16	17232486	17232486	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:17232486G>T	ENST00000261381.6	-	8	1672				CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I						cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						gttcatgtaagaactggttgt	0.498																																																	0																																										SO:0001627	intron_variant	0			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1588-98C>A	16.37:g.17232486G>T			Q9H1B6	RNA	SNP	-	NULL	ENST00000261381.6	37	NULL	CCDS10569.1	16																																																																																			CTD-2576D5.4	-	-		0.498	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261448	Clone_based_vega_gene	protein_coding	OTTHUMT00000252241.2	G	NM_022166		17232486	+1	no_errors	ENST00000567344	ensembl	human	known	70_37	rna	SNP	0.001	T
AKTIP	64400	genome.wustl.edu	37	16	53526459	53526460	+	Intron	INS	-	-	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:53526459_53526460insA	ENST00000394657.7	-	10	946				AKTIP_ENST00000570004.1_Intron|AKTIP_ENST00000300245.4_Intron	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein						apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				AACAGATATTTAAAAAATTACT	0.381																																																	0									,	2,4258		0,2,2128					,	0.7	0.3			49	0,8250		0,0,4125	no	intron,intron	AKTIP	NM_022476.2,NM_001012398.1	,	0,2,6253	A1A1,A1R,RR		0.0,0.0469,0.016	,	,		2,12508				SO:0001627	intron_variant	0			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.772-28->T	16.37:g.53526465_53526465dupA			Q503B1|Q53H38	RNA	INS	-	NULL	ENST00000394657.7	37	NULL	CCDS10749.1	16																																																																																			RP11-44F14.11	-	-		0.381	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000262557	Clone_based_vega_gene	protein_coding	OTTHUMT00000256909.4	-	NM_022476		53526460	-1	no_errors	ENST00000571523	ensembl	human	known	70_37	rna	INS	0.196:0.340	A
CARD14	79092	genome.wustl.edu	37	17	78175388	78175388	+	Intron	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:78175388T>C	ENST00000573882.1	+	16	2387				RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000344227.2_Intron|CARD14_ENST00000570421.1_Intron|CARD14_ENST00000392434.2_Intron|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000572730.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14						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)			CCACAGAGGCTCTGGTGTGTG	0.607																																																	0																																										SO:0001627	intron_variant	0			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.1852-155T>C	17.37:g.78175388T>C			B8QQJ3|Q9BVB5	RNA	SNP	-	NULL	ENST00000573882.1	37	NULL	CCDS11768.1	17																																																																																			RP11-334C17.5	-	-		0.607	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262580	Clone_based_vega_gene	protein_coding	OTTHUMT00000437507.1	T			78175388	-1	no_errors	ENST00000570309	ensembl	human	known	70_37	rna	SNP	0.238	C
LPIN2	9663	genome.wustl.edu	37	18	2945673	2945673	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:2945673C>T	ENST00000261596.4	-	5	829				RP11-737O24.2_ENST00000584431.1_RNA|RP11-737O24.3_ENST00000581139.1_RNA|RP11-737O24.2_ENST00000581488.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2						cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTAATAACTTCGCTTTACATC	0.388																																																	0																																										SO:0001627	intron_variant	0			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.591-4963G>A	18.37:g.2945673C>T			A7MD25|D3DUH3	RNA	SNP	-	NULL	ENST00000261596.4	37	NULL	CCDS11829.1	18																																																																																			RP11-737O24.3	-	-		0.388	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263606	Clone_based_vega_gene	protein_coding	OTTHUMT00000254363.2	C	NM_014646		2945673	-1	no_errors	ENST00000581139	ensembl	human	known	70_37	rna	SNP	0.295	T
EIF4A2	1974	genome.wustl.edu	37	3	186501340	186501340	+	5'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:186501340A>C	ENST00000323963.5	+	0	5				SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000440191.2_5'Flank|RP11-573D15.9_ENST00000577781.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000356531.5_5'Flank			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CGAGCCTATAAAAAACGGGTG	0.532			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													55.0	44.0	47.0					3																	186501340		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.-60A>C	3.37:g.186501340A>C			D3DNU9|Q53XJ6|Q96B90|Q96EA8	RNA	SNP	-	NULL	ENST00000323963.5	37	NULL	CCDS3282.1	3																																																																																			RP11-573D15.9	-	-		0.532	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263826	Clone_based_vega_gene	protein_coding	OTTHUMT00000344609.1	A	NM_001967		186501340	-1	no_errors	ENST00000577781	ensembl	human	known	70_37	rna	SNP	1.000	C
AC096509.1	0	genome.wustl.edu	37	X	24304668	24304668	+	RNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:24304668G>T	ENST00000577723.1	+	0	7																											CCAAGCTCAAGAAGACAGCAG	0.443																																																	0																																												0																															X.37:g.24304668G>T				RNA	SNP	-	NULL	ENST00000577723.1	37	NULL		X																																																																																			AC096509.1	-	-		0.443	AC096509.1-201	NOVEL	basic	miRNA	ENSG00000264184	Clone_based_ensembl_gene	miRNA		G			24304668	+1	no_errors	ENST00000577723	ensembl	human	novel	70_37	rna	SNP	0.000	T
RP11-283C24.1	0	genome.wustl.edu	37	17	20692783	20692783	+	lincRNA	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:20692783T>G	ENST00000578585.1	+	0	1400																											TTTCTGTGATTGGGTGGGATT	0.353																																																	0																																												0																															17.37:g.20692783T>G				RNA	SNP	-	NULL	ENST00000578585.1	37	NULL		17																																																																																			RP11-283C24.1	-	-		0.353	RP11-283C24.1-001	KNOWN	basic	lincRNA	ENSG00000264215	Clone_based_vega_gene	lincRNA	OTTHUMT00000431344.1	T			20692783	+1	no_errors	ENST00000578585	ensembl	human	known	70_37	rna	SNP	0.019	G
ALG10	84920	genome.wustl.edu	37	12	34180241	34180241	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:34180241T>G	ENST00000266483.2	+	0	2132				ALG10_ENST00000538927.1_Intron|AC046130.1_ENST00000401300.2_RNA|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				taattgtggtttttgccattg	0.294																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.*391T>G	12.37:g.34180241T>G			Q6NS98|Q96DU0|Q96SM6	RNA	SNP	-	NULL	ENST00000266483.2	37	NULL	CCDS41769.1	12																																																																																			AC046130.1	-	-		0.294	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000264446	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000403309.1	T	NM_032834		34180241	-1	no_errors	ENST00000401300	ensembl	human	novel	70_37	rna	SNP	0.036	G
CCDC144A	9720	genome.wustl.edu	37	17	16676937	16676937	+	3'UTR	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:16676937A>G	ENST00000360524.8	+	0	4454				RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.Y1423C|CCDC144A_ENST00000399273.1_Missense_Mutation_p.Y1423C|CCDC144A_ENST00000443444.2_3'UTR	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		AGAAGAAAATACATACTCTGA	0.289																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.*94A>G	17.37:g.16676937A>G			O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.Y1423C	ENST00000360524.8	37	c.4268	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	12.22	1.871527	0.33069	.	.	ENSG00000170160	ENST00000399273	T	0.05199	3.48	2.14	2.14	0.27477	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.22424	N	0.999119	.	.	.	.	.	.	T	0.27088	-1.0084	6	0.87932	D	0	.	6.1239	0.20167	1.0:0.0:0.0:0.0	.	.	.	.	C	1423	ENSP00000382215:Y1423C	ENSP00000382215:Y1423C	Y	+	2	0	CCDC144A	16617662	0.934000	0.31675	0.165000	0.22776	0.051000	0.14879	2.154000	0.42291	0.961000	0.38030	0.164000	0.16699	TAC	CCDC144A	-	NULL		0.289	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000266302	Uniprot_genename	protein_coding	OTTHUMT00000444093.1	A			16676937	+1	no_errors	ENST00000448331	ensembl	human	known	70_37	missense	SNP	0.297	G
ELMOD1	55531	genome.wustl.edu	37	11	107463118	107463118	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:107463118A>C	ENST00000265840.7	+	1	180				AP000889.3_ENST00000600612.1_Missense_Mutation_p.N106H|ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000531234.1_Intron	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1						phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TGGAGAGACCAATTTTGGGCA	0.488																																																	0													120.0	117.0	118.0					11																	107463118		1938	4155	6093	SO:0001627	intron_variant	0			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.-86+983A>C	11.37:g.107463118A>C			B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	NULL	p.N106H	ENST00000265840.7	37	c.316	CCDS44723.1	11																																																																																			AP000889.3	-	NULL		0.488	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000268467	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000389406.1	A	NM_018712		107463118	+1	no_errors	ENST00000600612	ensembl	human	known	70_37	missense	SNP	0.006	C
KLK10	5655	genome.wustl.edu	37	19	51517985	51517985	+	3'UTR	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:51517985A>G	ENST00000309958.3	-	0	1120				KLK10_ENST00000358789.3_3'UTR|CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000391805.1_3'UTR|CTB-147C22.9_ENST00000594512.1_RNA	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10						cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		AAGAGGATGGACGATGGAGCC	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"""Kallikreins"""	6358	protein-coding gene	gene with protein product		602673	"""kallikrein 10"""	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.*71T>C	19.37:g.51517985A>G			A6NC12|Q53YL3|Q99920|Q9GZW9	RNA	SNP	-	NULL	ENST00000309958.3	37	NULL	CCDS12817.1	19																																																																																			CTC-518B2.12	-	-		0.537	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000268739	Clone_based_vega_gene	protein_coding	OTTHUMT00000464337.2	A	NM_002776		51517985	+1	no_errors	ENST00000596286	ensembl	human	known	70_37	rna	SNP	0.002	G
ENTPD3	956	genome.wustl.edu	37	3	40456324	40456324	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:40456324T>G	ENST00000301825.3	+	6	708	c.590T>G	c.(589-591)tTc>tGc	p.F197C	ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.F197C|ENTPD3_ENST00000456402.1_Missense_Mutation_p.F197C	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	197					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		ATGGGAAATTTCCTGGAGGTG	0.423																																																	0													193.0	198.0	196.0					3																	40456324		2203	4300	6503	SO:0001583	missense	956			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.590T>G	3.37:g.40456324T>G	ENSP00000301825:p.Phe197Cys		B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.F197C	ENST00000301825.3	37	c.590	CCDS2691.1	3	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068611	0.76301	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.15718	2.4;2.4;2.4	5.48	5.48	0.80851	.	0.043655	0.85682	D	0.000000	T	0.49321	0.1550	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59231	-0.7493	10	0.87932	D	0	-26.9945	13.8328	0.63391	0.0:0.0:0.0:1.0	.	197	O75355	ENTP3_HUMAN	C	197	ENSP00000301825:F197C;ENSP00000401565:F197C;ENSP00000404671:F197C	ENSP00000301825:F197C	F	+	2	0	ENTPD3	40431328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.227000	0.72691	0.460000	0.39030	TTC	ENTPD3	-	pfam_GDA1_CD39_NTPase		0.423	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD3	HGNC	protein_coding	OTTHUMT00000254179.2	T	NM_001248		40456324	+1	no_errors	ENST00000301825	ensembl	human	known	70_37	missense	SNP	1.000	G
EP300	2033	genome.wustl.edu	37	22	41527552	41527552	+	Silent	SNP	G	G	A	rs374768898		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:41527552G>A	ENST00000263253.7	+	6	2662	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	481					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCAGATGCCGACACAACCCC	0.512			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0								G		1,4405	2.1+/-5.4	0,1,2202	84.0	82.0	83.0		1443	-6.0	0.2	22		83	0,8600		0,0,4300	no	coding-synonymous	EP300	NM_001429.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		481/2415	41527552	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1443G>A	22.37:g.41527552G>A			B1AKC2	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P481	ENST00000263253.7	37	c.1443	CCDS14010.1	22																																																																																			EP300	-	NULL		0.512	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41527552	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	silent	SNP	0.124	A
EP400	57634	genome.wustl.edu	37	12	132466942	132466942	+	Silent	SNP	G	G	A	rs375973870		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:132466942G>A	ENST00000333577.4	+	6	2065	c.1956G>A	c.(1954-1956)tcG>tcA	p.S652S	EP400_ENST00000332482.4_Silent_p.S579S|EP400_ENST00000389562.2_Silent_p.S615S|EP400_ENST00000330386.6_Silent_p.S616S|EP400_ENST00000389561.2_Silent_p.S616S			Q96L91	EP400_HUMAN	E1A binding protein p400	652					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCCTCCCTCGCAGCCTGCAC	0.607																																																	0													91.0	81.0	84.0					12																	132466942		2203	4300	6503	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1956G>A	12.37:g.132466942G>A			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S652	ENST00000333577.4	37	c.1956		12																																																																																			EP400	-	NULL		0.607	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		G	NM_015409		132466942	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	silent	SNP	0.003	A
EPB41L1	2036	genome.wustl.edu	37	20	34810275	34810275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:34810275G>T	ENST00000338074.2	+	21	2757	c.2596G>T	c.(2596-2598)Gaa>Taa	p.E866*	EPB41L1_ENST00000202028.5_Nonsense_Mutation_p.E764*|EPB41L1_ENST00000373946.3_Nonsense_Mutation_p.E686*|EPB41L1_ENST00000373950.2_Nonsense_Mutation_p.E757*|EPB41L1_ENST00000441639.1_Nonsense_Mutation_p.E764*|EPB41L1_ENST00000373941.1_Nonsense_Mutation_p.E865*	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	866	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CGTATACAGAGAAACAGACCC	0.537																																																	0													102.0	95.0	98.0					20																	34810275		2203	4300	6503	SO:0001587	stop_gained	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2596G>T	20.37:g.34810275G>T	ENSP00000337168:p.Glu866*		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Nonsense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E866*	ENST00000338074.2	37	c.2596	CCDS13271.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.89|18.89	3.719337|3.719337	0.68844|0.68844	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000432603|ENST00000202028;ENST00000373950;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	.|.	.|.	.|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	.|.	.|.	.|.	.|.	T|.	0.76219|.	0.3957|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79885|.	-0.1614|.	4|.	.|0.72032	.|D	.|0.01	.|.	16.6051|16.6051	0.84826|0.84826	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	103|764;757;757;764;686;866;865	.|.	.|ENSP00000202028:E764X	E|E	+|+	3|1	2|0	EPB41L1|EPB41L1	34273689|34273689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.456000|7.456000	0.80751|0.80751	2.401000|2.401000	0.81631|0.81631	0.462000|0.462000	0.41574|0.41574	GAG|GAA	EPB41L1	-	pfam_Band_4.1_C,pirsf_Band_41_protein		0.537	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	G	NM_012156		34810275	+1	no_errors	ENST00000338074	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EPHA6	285220	genome.wustl.edu	37	3	97202827	97202827	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:97202827C>T	ENST00000514100.1	+	7	542	c.300C>T	c.(298-300)gaC>gaT	p.D100D	EPHA6_ENST00000389672.5_Silent_p.D708D|EPHA6_ENST00000502694.1_Silent_p.D100D|EPHA6_ENST00000442602.2_Silent_p.D74D	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	614	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATATGAAGACCCATCCCTAG	0.398																																																	0													106.0	109.0	108.0					3																	97202827		1895	4112	6007	SO:0001819	synonymous_variant	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.300C>T	3.37:g.97202827C>T			D6RAL5	Silent	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,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D708	ENST00000514100.1	37	c.2124		3																																																																																			EPHA6	-	superfamily_Kinase-like_dom		0.398	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000359997.1	C	NM_001080448		97202827	+1	no_errors	ENST00000389672	ensembl	human	known	70_37	silent	SNP	1.000	T
EPPIN	57119	genome.wustl.edu	37	20	44175982	44175982	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:44175982T>C	ENST00000354280.4	-	1	81	c.15A>G	c.(13-15)ggA>ggG	p.G5G	EPPIN_ENST00000336443.3_5'Flank|EPPIN-WFDC6_ENST00000504988.1_Silent_p.G5G|EPPIN_ENST00000409554.1_Silent_p.G5G|EPPIN_ENST00000555685.1_Silent_p.G5G	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor	5					defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGCTCAAAAGTCCAGAAGATC	0.502																																																	0													83.0	74.0	77.0					20																	44175982		2203	4300	6503	SO:0001819	synonymous_variant	57119			AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588	ENST00000354280.4:c.15A>G	20.37:g.44175982T>C			A6PVD6|Q86TP9|Q96SD7|Q9HD30	Silent	SNP	pfam_Prot_inh_Kunz-m,pfam_Whey_acidic_protein_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G5	ENST00000354280.4	37	c.15	CCDS13359.1	20																																																																																			EPPIN	-	NULL		0.502	EPPIN-001	KNOWN	basic|CCDS	protein_coding	EPPIN	HGNC	protein_coding	OTTHUMT00000079467.4	T			44175982	-1	no_errors	ENST00000555685	ensembl	human	known	70_37	silent	SNP	0.008	C
EPS8L3	79574	genome.wustl.edu	37	1	110295775	110295775	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:110295775G>T	ENST00000361965.4	-	13	1270	c.1164C>A	c.(1162-1164)ttC>ttA	p.F388L	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.F388L|EPS8L3_ENST00000369805.3_Missense_Mutation_p.F389L	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	388						cytoplasm (GO:0005737)		p.F389L(1)		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)		AGTCATCTGAGAATGTGGGTT	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)											101.0	97.0	98.0					1																	110295775		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.1164C>A	1.37:g.110295775G>T	ENSP00000355255:p.Phe388Leu		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.F389L	ENST00000361965.4	37	c.1167	CCDS814.1	1	.	.	.	.	.	.	.	.	.	.	G	3.366	-0.129543	0.06753	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;D	0.81659	1.55;-1.49;-1.52	4.45	1.52	0.23074	.	0.050329	0.85682	D	0.000000	T	0.73401	0.3582	M	0.87682	2.9	0.54753	D	0.999989	P;P;P;B	0.45986	0.544;0.87;0.855;0.041	B;B;B;B	0.42282	0.259;0.377;0.382;0.016	T	0.74396	-0.3679	10	0.72032	D	0.01	-13.8451	8.5408	0.33390	0.2859:0.0:0.7141:0.0	.	388;388;388;389	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	L	388;389;388	ENSP00000354551:F388L;ENSP00000358820:F389L;ENSP00000355255:F388L	ENSP00000354551:F388L	F	-	3	2	EPS8L3	110097298	1.000000	0.71417	0.804000	0.32291	0.008000	0.06430	1.842000	0.39250	0.250000	0.21479	-1.786000	0.00637	TTC	EPS8L3	-	NULL		0.577	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1	G	NM_024526		110295775	-1	no_errors	ENST00000369805	ensembl	human	known	70_37	missense	SNP	0.733	T
EPYC	1833	genome.wustl.edu	37	12	91366698	91366698	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:91366698C>A	ENST00000261172.3	-	4	492	c.400G>T	c.(400-402)Gaa>Taa	p.E134*		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	134	LRRNT.				female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GCATCAAGTTCATGGTCATCA	0.353																																																	0													152.0	157.0	155.0					12																	91366698		2203	4300	6503	SO:0001587	stop_gained	1833			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.400G>T	12.37:g.91366698C>A	ENSP00000261172:p.Glu134*		A8K3M7|Q8NEJ5	Nonsense_Mutation	SNP	pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.E134*	ENST00000261172.3	37	c.400	CCDS31870.1	12	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783607	0.90282	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	.	.	.	5.98	5.98	0.97165	.	0.255009	0.47093	D	0.000254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	13.6203	0.62134	0.0:0.9294:0.0:0.0706	.	.	.	.	X	134	.	ENSP00000261172:E134X	E	-	1	0	EPYC	89890829	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.746000	0.55127	2.838000	0.97847	0.655000	0.94253	GAA	EPYC	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.353	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPYC	HGNC	protein_coding	OTTHUMT00000407146.2	C	NM_004950		91366698	-1	no_errors	ENST00000261172	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ERBB4	2066	genome.wustl.edu	37	2	212495258	212495258	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:212495258T>C	ENST00000342788.4	-	17	2318	c.2008A>G	c.(2008-2010)Aca>Gca	p.T670A	ERBB4_ENST00000402597.1_Missense_Mutation_p.T660A|ERBB4_ENST00000436443.1_Missense_Mutation_p.T670A	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	670					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACAGCAAATGTCAGACCCACA	0.393										TSP Lung(8;0.080)																																							0													99.0	105.0	103.0					2																	212495258		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2008A>G	2.37:g.212495258T>C	ENSP00000342235:p.Thr670Ala		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T670A	ENST00000342788.4	37	c.2008	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.04|10.04	1.241294|1.241294	0.22711|0.22711	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.74209|.	-0.8;-0.8;-0.82|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.086530|.	0.85682|.	D|.	0.000000|.	T|.	0.51346|.	0.1669|.	N|N	0.19112|0.19112	0.55|0.55	0.51482|0.51482	D|D	0.999923|0.999923	B;B;B;B;B|.	0.30146|.	0.27;0.01;0.107;0.27;0.177|.	B;B;B;B;B|.	0.30316|.	0.114;0.022;0.028;0.114;0.053|.	T|.	0.48581|.	-0.9023|.	10|.	0.23891|.	T|.	0.37|.	.|.	15.8057|15.8057	0.78506|0.78506	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	660;660;529;670;670|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	A|W	670;670;660|659	ENSP00000342235:T670A;ENSP00000403204:T670A;ENSP00000385565:T660A|.	ENSP00000342235:T670A|.	T|X	-|-	1|3	0|0	ERBB4|ERBB4	212203503|212203503	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	3.739000|3.739000	0.55075|0.55075	2.143000|2.143000	0.66587|0.66587	0.473000|0.473000	0.43528|0.43528	ACA|TGA	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.393	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	T	NM_001042599		212495258	-1	no_errors	ENST00000342788	ensembl	human	known	70_37	missense	SNP	1.000	C
ERCC5	2073	genome.wustl.edu	37	13	103515335	103515335	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:103515335G>T	ENST00000355739.4	+	8	3259	c.1836G>T	c.(1834-1836)gaG>gaT	p.E612D	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Nonsense_Mutation_p.E1038*	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	612					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGAGCATGAGAATTTTCTGG	0.433			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	0													75.0	72.0	73.0					13																	103515335		2203	4300	6503	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1836G>T	13.37:g.103515335G>T	ENSP00000347978:p.Glu612Asp		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair	p.E612D	ENST00000355739.4	37	c.1836	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	G	7.539	0.660229	0.14645	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.05717	3.4	5.72	0.181	0.15073	.	0.616926	0.17181	N	0.183889	T	0.03564	0.0102	L	0.28740	0.885	0.09310	N	0.999999	B;B;B	0.12013	0.005;0.002;0.003	B;B;B	0.11329	0.006;0.004;0.002	T	0.43814	-0.9368	10	0.18276	T	0.48	-6.4969	2.1523	0.03803	0.4208:0.1207:0.3352:0.1233	.	612;612;1037	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	D	1037;612;444	ENSP00000347978:E612D	ENSP00000347978:E612D	E	+	3	2	ERCC5	102313336	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-1.130000	0.03241	-0.052000	0.13311	0.591000	0.81541	GAG	ERCC5	-	tigrfam_XPGC_DNA_repair		0.433	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	HGNC	protein_coding	OTTHUMT00000045708.1	G			103515335	+1	no_errors	ENST00000355739	ensembl	human	known	70_37	missense	SNP	0.004	T
ERCC6	2074	genome.wustl.edu	37	10	50732662	50732662	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:50732662C>T	ENST00000355832.5	-	5	892	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E272K|PGBD3_ENST00000374127.3_5'Flank|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E272K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E272K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	272					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAATACTTTTCGAAGCCTGAT	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													165.0	161.0	163.0					10																	50732662		2203	4300	6503	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.814G>A	10.37:g.50732662C>T	ENSP00000348089:p.Glu272Lys		D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E272K	ENST00000355832.5	37	c.814	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.575942	0.96553	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.86432	-2.12;2.61;2.61	6.03	6.03	0.97812	.	.	.	.	.	D	0.91794	0.7404	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.58820	0.833;0.846	D	0.89682	0.3891	9	0.32370	T	0.25	-37.346	18.7472	0.91797	0.0:1.0:0.0:0.0	.	272;272	E7EV46;Q03468	.;ERCC6_HUMAN	K	272	ENSP00000348089:E272K;ENSP00000423550:E272K;ENSP00000387966:E272K	ENSP00000348089:E272K	E	-	1	0	ERCC6;RP11-123B3.6	50402668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.461000	0.80834	2.854000	0.98071	0.655000	0.94253	GAA	ERCC6	-	NULL		0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	C	NM_000124		50732662	-1	no_errors	ENST00000355832	ensembl	human	known	70_37	missense	SNP	1.000	T
ERCC6L	54821	genome.wustl.edu	37	X	71426082	71426082	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:71426082T>G	ENST00000334463.3	-	2	2670	c.2535A>C	c.(2533-2535)aaA>aaC	p.K845N	ERCC6L_ENST00000373657.1_Missense_Mutation_p.K722N|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	845					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GTAATGTCTCTTTTTGTACAG	0.388																																																	0													83.0	73.0	76.0					X																	71426082		2203	4300	6503	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2535A>C	X.37:g.71426082T>G	ENSP00000334675:p.Lys845Asn		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K845N	ENST00000334463.3	37	c.2535	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	T	10.87	1.471815	0.26423	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.91351	-2.8;-2.83	4.91	-3.03	0.05429	.	.	.	.	.	T	0.81763	0.4891	L	0.57536	1.79	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.69375	-0.5162	9	0.22706	T	0.39	-11.7973	2.9626	0.05897	0.1431:0.4691:0.1429:0.2449	.	845	Q2NKX8	ERC6L_HUMAN	N	722;845	ENSP00000362761:K722N;ENSP00000334675:K845N	ENSP00000334675:K845N	K	-	3	2	ERCC6L	71342807	0.001000	0.12720	0.008000	0.14137	0.027000	0.11550	-0.958000	0.03857	-0.447000	0.07138	0.481000	0.45027	AAA	ERCC6L	-	NULL		0.388	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	T	NM_017669		71426082	-1	no_errors	ENST00000334463	ensembl	human	known	70_37	missense	SNP	0.000	G
ERCC6L	54821	genome.wustl.edu	37	X	71427103	71427103	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:71427103C>T	ENST00000334463.3	-	2	1649	c.1514G>A	c.(1513-1515)cGa>cAa	p.R505Q	ERCC6L_ENST00000373657.1_Missense_Mutation_p.R382Q|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	505	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R505Q(2)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CCCATCGATTCGCAATGTCTT	0.373																																																	2	Substitution - Missense(2)	large_intestine(2)											107.0	99.0	102.0					X																	71427103		2203	4300	6503	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1514G>A	X.37:g.71427103C>T	ENSP00000334675:p.Arg505Gln		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R505Q	ENST00000334463.3	37	c.1514	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690921	0.48097	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.75704	-0.96;-0.96	5.72	4.86	0.63082	Helicase, C-terminal (3);	.	.	.	.	D	0.86772	0.6013	M	0.86573	2.825	0.43777	D	0.996303	D	0.89917	1.0	D	0.97110	1.0	D	0.88077	0.2804	9	0.87932	D	0	-9.5779	11.3697	0.49692	0.0:0.9106:0.0:0.0894	.	505	Q2NKX8	ERC6L_HUMAN	Q	382;505	ENSP00000362761:R382Q;ENSP00000334675:R505Q	ENSP00000334675:R505Q	R	-	2	0	ERCC6L	71343828	1.000000	0.71417	0.077000	0.20336	0.607000	0.37147	5.816000	0.69222	1.181000	0.42912	0.600000	0.82982	CGA	ERCC6L	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.373	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	C	NM_017669		71427103	-1	no_errors	ENST00000334463	ensembl	human	known	70_37	missense	SNP	0.989	T
ERG	2078	genome.wustl.edu	37	21	39772513	39772513	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:39772513C>A	ENST00000417133.2	-	8	934	c.749G>T	c.(748-750)aGa>aTa	p.R250I	ERG_ENST00000398907.1_Missense_Mutation_p.R243I|ERG_ENST00000398910.1_Missense_Mutation_p.R250I|ERG_ENST00000429727.2_Intron|ERG_ENST00000288319.7_Missense_Mutation_p.R243I|ERG_ENST00000398905.1_Intron|ERG_ENST00000442448.1_Intron|ERG_ENST00000398911.1_Intron|ERG_ENST00000453032.2_Missense_Mutation_p.R151I|ERG_ENST00000398919.2_Missense_Mutation_p.R250I|ERG_ENST00000398897.1_Intron	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGTTGTAATTCTTTGCGTAGC	0.448			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)			Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"""M, E, L"""	0													158.0	149.0	152.0					21																	39772513		2203	4300	6503	SO:0001583	missense	2078				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.749G>T	21.37:g.39772513C>A	ENSP00000414150:p.Arg250Ile		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.R250I	ENST00000417133.2	37	c.749	CCDS46648.1	21	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382760	0.82792	.	.	ENSG00000157554	ENST00000398907;ENST00000288319;ENST00000417133;ENST00000398910;ENST00000453032;ENST00000398919	T;T;T;T;T;T	0.15487	2.47;2.42;2.42;2.47;2.42;2.42	5.08	5.08	0.68730	.	0.061993	0.64402	D	0.000008	T	0.38108	0.1028	M	0.64170	1.965	0.80722	D	1	D;B;P	0.58970	0.984;0.123;0.892	P;B;B	0.59948	0.866;0.023;0.284	T	0.19160	-1.0314	10	0.87932	D	0	.	18.4913	0.90849	0.0:1.0:0.0:0.0	.	250;250;243	P11308;P11308-6;P11308-4	ERG_HUMAN;.;.	I	243;243;250;250;151;250	ENSP00000381879:R243I;ENSP00000288319:R243I;ENSP00000414150:R250I;ENSP00000381881:R250I;ENSP00000396268:R151I;ENSP00000381891:R250I	ENSP00000288319:R243I	R	-	2	0	ERG	38694383	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.574000	0.67424	2.351000	0.79841	0.655000	0.94253	AGA	ERG	-	NULL		0.448	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2	C	NM_182918		39772513	-1	no_errors	ENST00000398919	ensembl	human	known	70_37	missense	SNP	1.000	A
ERGIC1	57222	genome.wustl.edu	37	5	172359474	172359474	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:172359474C>T	ENST00000393784.3	+	8	716	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	193					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAGATTGTGCCCACGGTTTA	0.622											OREG0017050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78.0	63.0	68.0					5																	172359474		2203	4300	6503	SO:0001583	missense	57222			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.577C>T	5.37:g.172359474C>T	ENSP00000377374:p.Pro193Ser	237	Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	pfam_DUF1692	p.P193S	ENST00000393784.3	37	c.577	CCDS34292.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.377380	0.95945	.	.	ENSG00000113719	ENST00000393784	.	.	.	4.9	4.9	0.64082	Domain of unknown function DUF1692 (1);	0.000000	0.85682	D	0.000000	T	0.79411	0.4441	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.81726	-0.0801	9	0.59425	D	0.04	-28.5067	17.7211	0.88351	0.0:1.0:0.0:0.0	.	138;193	B4E0N6;Q969X5	.;ERGI1_HUMAN	S	193	.	ENSP00000377374:P193S	P	+	1	0	ERGIC1	172292080	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.565000	0.82337	2.272000	0.75746	0.655000	0.94253	CCC	ERGIC1	-	pfam_DUF1692		0.622	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC1	HGNC	protein_coding	OTTHUMT00000252938.3	C	NM_020462		172359474	+1	no_errors	ENST00000393784	ensembl	human	known	70_37	missense	SNP	1.000	T
ERRFI1	54206	genome.wustl.edu	37	1	8073301	8073301	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:8073301C>T	ENST00000377482.5	-	4	1581	c.1358G>A	c.(1357-1359)cGt>cAt	p.R453H	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	453					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TAAATGTTTACGCTTCACGTG	0.453																																																	0													139.0	126.0	131.0					1																	8073301		2203	4300	6503	SO:0001583	missense	54206			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1358G>A	1.37:g.8073301C>T	ENSP00000366702:p.Arg453His		B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	pfam_GTPase_binding,pfam_Inhibitor_Mig-6	p.R453H	ENST00000377482.5	37	c.1358	CCDS94.1	1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768626	0.69878	.	.	ENSG00000116285	ENST00000377482	T	0.20463	2.07	5.22	5.22	0.72569	.	0.083826	0.46442	D	0.000293	T	0.18593	0.0446	M	0.63428	1.95	0.80722	D	1	P	0.39250	0.665	B	0.24541	0.054	T	0.03818	-1.1001	10	0.87932	D	0	-19.1502	11.39	0.49809	0.0:0.9187:0.0:0.0813	.	453	Q9UJM3	ERRFI_HUMAN	H	453	ENSP00000366702:R453H	ENSP00000366702:R453H	R	-	2	0	ERRFI1	7995888	0.805000	0.28982	0.999000	0.59377	0.546000	0.35178	1.274000	0.33132	2.708000	0.92522	0.650000	0.86243	CGT	ERRFI1	-	NULL		0.453	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERRFI1	HGNC	protein_coding	OTTHUMT00000003617.1	C	NM_018948		8073301	-1	no_errors	ENST00000377482	ensembl	human	known	70_37	missense	SNP	0.999	T
ERVV-1	147664	genome.wustl.edu	37	19	53517721	53517721	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53517721T>C	ENST00000602168.1	+	1	548	c.378T>C	c.(376-378)tgT>tgC	p.C126C	CTD-2620I22.3_ENST00000596769.1_lincRNA	NM_152473.2	NP_689686.2	B6SEH8	ERVV1_HUMAN	endogenous retrovirus group V, member 1	126						integral component of membrane (GO:0016021)											AAACCTGTTGTCCATGCCCTG	0.517																																																	0																																										SO:0001819	synonymous_variant	147664			AK056776, BC104018, BC104019	CCDS59419.1	19q13.41	2014-05-02			ENSG00000269526	ENSG00000269526			26501	other	endogenous retrovirus						18826608, 21542922	Standard	NM_152473		Approved	FLJ32214, HERV-V1, ENVV1	uc002qap.3	B6SEH8	OTTHUMG00000182942	ENST00000602168.1:c.378T>C	19.37:g.53517721T>C				Silent	SNP	pfam_TLV/ENV_coat_polyprotein	p.C126	ENST00000602168.1	37	c.378	CCDS59419.1	19																																																																																			ERVV-1	-	NULL		0.517	ERVV-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERVV-1	HGNC	protein_coding	OTTHUMT00000464402.1	T	NM_152473		53517721	+1	no_errors	ENST00000602168	ensembl	human	known	70_37	silent	SNP	0.038	C
ESCO2	157570	genome.wustl.edu	37	8	27633950	27633950	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:27633950A>C	ENST00000305188.8	+	3	363	c.125A>C	c.(124-126)aAa>aCa	p.K42T	ESCO2_ENST00000397418.2_5'UTR|RNU6-1276P_ENST00000365372.1_RNA	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	42					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AACAGTGATAAAAATGAAGAA	0.328									SC Phocomelia syndrome																																								0													35.0	36.0	36.0					8																	27633950		2201	4298	6499	SO:0001583	missense	157570	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.125A>C	8.37:g.27633950A>C	ENSP00000306999:p.Lys42Thr		B3KW59|Q49AP4	Missense_Mutation	SNP	NULL	p.K42T	ENST00000305188.8	37	c.125	CCDS34872.1	8	.	.	.	.	.	.	.	.	.	.	A	6.193	0.403739	0.11754	.	.	ENSG00000171320	ENST00000523566;ENST00000305188;ENST00000519637	T;T;T	0.63913	0.9;-0.07;0.9	5.52	1.45	0.22620	.	1.492820	0.03356	N	0.196820	T	0.55289	0.1911	L	0.57536	1.79	0.22975	N	0.998485	B;B	0.32829	0.386;0.139	B;B	0.31101	0.124;0.04	T	0.29518	-1.0009	10	0.23891	T	0.37	-0.1985	4.5961	0.12330	0.6203:0.0:0.0853:0.2944	.	42;42	E5RFE4;Q56NI9	.;ESCO2_HUMAN	T	42	ENSP00000428435:K42T;ENSP00000306999:K42T;ENSP00000428027:K42T	ENSP00000306999:K42T	K	+	2	0	ESCO2	27689869	0.020000	0.18652	0.424000	0.26647	0.510000	0.34073	0.211000	0.17474	0.431000	0.26258	0.482000	0.46254	AAA	ESCO2	-	NULL		0.328	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	HGNC	protein_coding	OTTHUMT00000376276.1	A	NM_001017420		27633950	+1	no_errors	ENST00000305188	ensembl	human	known	70_37	missense	SNP	0.344	C
EVC2	132884	genome.wustl.edu	37	4	5633691	5633691	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:5633691A>C	ENST00000344408.5	-	11	1592	c.1539T>G	c.(1537-1539)tcT>tcG	p.S513S	EVC2_ENST00000344938.1_Silent_p.S513S|EVC2_ENST00000310917.2_Silent_p.S433S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	513					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCAAAGCGAGAGACTTCCTCA	0.483																																																	0													91.0	90.0	91.0					4																	5633691		2203	4300	6503	SO:0001819	synonymous_variant	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1539T>G	4.37:g.5633691A>C			Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.S431A	ENST00000344408.5	37	c.1291	CCDS3382.2	4																																																																																			EVC2	-	NULL		0.483	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	A	NM_147127		5633691	-1	no_errors	ENST00000509670	ensembl	human	known	70_37	missense	SNP	0.000	C
EXOC4	60412	genome.wustl.edu	37	7	133692523	133692523	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:133692523T>G	ENST00000253861.4	+	17	2651	c.2622T>G	c.(2620-2622)atT>atG	p.I874M	EXOC4_ENST00000539845.1_Missense_Mutation_p.I773M|EXOC4_ENST00000545148.1_Missense_Mutation_p.I484M|EXOC4_ENST00000541309.1_Missense_Mutation_p.I162M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	874					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTAGGAACATTTTTGTTCTTC	0.493																																																	0													84.0	71.0	75.0					7																	133692523		2203	4300	6503	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2622T>G	7.37:g.133692523T>G	ENSP00000253861:p.Ile874Met		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.I874M	ENST00000253861.4	37	c.2622	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604606	0.66445	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.45	-3.24	0.05094	.	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	L	0.49513	1.565	0.47621	D	0.999479	D;P;D	0.89917	1.0;0.937;0.998	D;P;D	0.70935	0.971;0.767;0.915	T	0.65088	-0.6253	9	0.48119	T	0.1	.	14.5891	0.68351	0.0:0.6658:0.0:0.3342	.	406;484;874	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	M	874;493;773;484;162	.	ENSP00000253861:I874M	I	+	3	3	EXOC4	133343063	0.960000	0.32886	0.989000	0.46669	0.987000	0.75469	0.068000	0.14531	-0.487000	0.06735	-0.353000	0.07706	ATT	EXOC4	-	NULL		0.493	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	T	NM_021807		133692523	+1	no_errors	ENST00000253861	ensembl	human	known	70_37	missense	SNP	0.988	G
EYA1	2138	genome.wustl.edu	37	8	72123465	72123465	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:72123465T>G	ENST00000340726.3	-	17	2263	c.1624A>C	c.(1624-1626)Att>Ctt	p.I542L	EYA1_ENST00000388741.2_Missense_Mutation_p.I508L|EYA1_ENST00000388743.2_Missense_Mutation_p.I541L|EYA1_ENST00000419131.1_Missense_Mutation_p.I507L|EYA1_ENST00000303824.7_Missense_Mutation_p.I536L|EYA1_ENST00000388740.3_Missense_Mutation_p.I509L|EYA1_ENST00000388742.4_Missense_Mutation_p.I542L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	542					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AACCTTTGAATTATTCTCTCA	0.343																																																	0													187.0	166.0	173.0					8																	72123465		2203	4300	6503	SO:0001583	missense	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1624A>C	8.37:g.72123465T>G	ENSP00000342626:p.Ile542Leu		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.I542L	ENST00000340726.3	37	c.1624	CCDS34906.1	8	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646169	0.67358	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.67	5.67	0.87782	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.113679	0.64402	D	0.000004	D	0.88698	0.6507	N	0.16743	0.435	0.80722	D	1	B;B;B;P;B	0.45428	0.114;0.006;0.006;0.858;0.013	B;B;B;P;B	0.60012	0.063;0.016;0.016;0.867;0.016	D	0.88136	0.2841	10	0.32370	T	0.25	-14.9112	15.904	0.79406	0.0:0.0:0.0:1.0	.	536;469;509;542;507	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	L	542;542;510;509;536;508;541;507	ENSP00000373394:I542L;ENSP00000342626:I542L;ENSP00000373392:I509L;ENSP00000303221:I536L;ENSP00000373393:I508L;ENSP00000373395:I541L;ENSP00000410176:I507L	ENSP00000303221:I536L	I	-	1	0	EYA1	72286019	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.229000	0.72294	2.165000	0.68154	0.459000	0.35465	ATT	EYA1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA		0.343	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	T	NM_000503, NM_172060		72123465	-1	no_errors	ENST00000340726	ensembl	human	known	70_37	missense	SNP	1.000	G
EYA3	2140	genome.wustl.edu	37	1	28362124	28362124	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:28362124T>G	ENST00000373871.3	-	6	532	c.292A>C	c.(292-294)Aca>Cca	p.T98P	EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Missense_Mutation_p.T98P|EYA3_ENST00000545175.1_Missense_Mutation_p.T45P|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000540618.1_Missense_Mutation_p.T98P|EYA3_ENST00000436342.2_5'UTR	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	98					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGCTGTAGTGTCTGGTATTGA	0.418																																																	0													248.0	239.0	242.0					1																	28362124		2203	4300	6503	SO:0001583	missense	2140			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.292A>C	1.37:g.28362124T>G	ENSP00000362978:p.Thr98Pro		A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.T98P	ENST00000373871.3	37	c.292	CCDS316.1	1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.464333	0.43736	.	.	ENSG00000158161	ENST00000373871;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D	0.92699	-3.09;-3.0;-3.05;-2.9	5.29	1.68	0.24146	.	0.257624	0.46145	D	0.000312	D	0.83138	0.5189	N	0.22421	0.69	0.80722	D	1	B;B;B	0.34015	0.435;0.004;0.001	B;B;B	0.35688	0.208;0.004;0.006	T	0.74965	-0.3484	10	0.44086	T	0.13	-21.9487	4.4195	0.11474	0.0:0.254:0.1687:0.5773	.	98;98;98	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	P	98;98;45;98	ENSP00000362978:T98P;ENSP00000442558:T98P;ENSP00000442280:T45P;ENSP00000362970:T98P	ENSP00000362970:T98P	T	-	1	0	EYA3	28234711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.900000	0.28431	0.402000	0.25451	0.533000	0.62120	ACA	EYA3	-	NULL		0.418	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1	T	NM_001990		28362124	-1	no_errors	ENST00000373871	ensembl	human	known	70_37	missense	SNP	1.000	G
EYS	346007	genome.wustl.edu	37	6	65301416	65301416	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:65301416G>A	ENST00000370621.3	-	26	4870	c.4344C>T	c.(4342-4344)ttC>ttT	p.F1448F	EYS_ENST00000503581.1_Silent_p.F1448F|EYS_ENST00000370616.2_Silent_p.F1448F			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1448					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTATAAGCAGGAATCCACGGG	0.438																																																	0													77.0	74.0	75.0					6																	65301416		692	1590	2282	SO:0001819	synonymous_variant	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4344C>T	6.37:g.65301416G>A			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.F1448	ENST00000370621.3	37	c.4344		6																																																																																			EYS	-	NULL		0.438	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	G	XM_294050		65301416	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	silent	SNP	0.468	A
F13A1	2162	genome.wustl.edu	37	6	6174837	6174837	+	Missense_Mutation	SNP	C	C	T	rs201444282		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:6174837C>T	ENST00000264870.3	-	12	1988	c.1723G>A	c.(1723-1725)Gac>Aac	p.D575N		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	575					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGCGTCACGTCGAACGTCTCC	0.517																																																	0													262.0	231.0	241.0					6																	6174837		2203	4300	6503	SO:0001583	missense	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1723G>A	6.37:g.6174837C>T	ENSP00000264870:p.Asp575Asn		Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.D575N	ENST00000264870.3	37	c.1723	CCDS4496.1	6	.	.	.	.	.	.	.	.	.	.	C	4.419	0.077566	0.08485	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.74209	-0.82	5.78	-0.318	0.12728	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	1.042200	0.07461	N	0.900584	T	0.26702	0.0653	N	0.03154	-0.405	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.19128	-1.0315	10	0.17369	T	0.5	.	11.1866	0.48660	0.0:0.4942:0.0:0.5058	.	512;575	F5H080;P00488	.;F13A_HUMAN	N	575;512	ENSP00000264870:D575N	ENSP00000264870:D575N	D	-	1	0	F13A1	6119836	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.593000	0.05740	-0.125000	0.11703	-1.246000	0.01523	GAC	F13A1	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.517	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	C	NM_000129		6174837	-1	no_errors	ENST00000264870	ensembl	human	known	70_37	missense	SNP	0.000	T
EZR	7430	genome.wustl.edu	37	6	159190421	159190421	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:159190421C>A	ENST00000367075.3	-	12	1449	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	EZR_ENST00000392177.4_Missense_Mutation_p.K395N|EZR_ENST00000337147.7_Missense_Mutation_p.K427N	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	427	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GGAGGGCAATCTTGGCAGTGT	0.572			T	ROS1	NSCLC																																			Dom	yes		6	6q25.3	7430	ezrin		E	0													79.0	68.0	72.0					6																	159190421		2203	4300	6503	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1281G>T	6.37:g.159190421C>A	ENSP00000356042:p.Lys427Asn		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam	p.K427N	ENST00000367075.3	37	c.1281	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234882	0.79800	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.83335	-1.71;-1.71;-1.71	5.25	5.25	0.73442	Ezrin/radixin/moesin, C-terminal (1);	0.273232	0.42053	D	0.000778	T	0.69700	0.3140	L	0.58810	1.83	0.58432	D	0.999994	B;B	0.15141	0.001;0.012	B;B	0.21151	0.008;0.033	T	0.66476	-0.5914	10	0.23891	T	0.37	.	12.2414	0.54544	0.0:0.9224:0.0:0.0776	.	395;427	E7EQR4;P15311	.;EZRI_HUMAN	N	427;427;395	ENSP00000338934:K427N;ENSP00000356042:K427N;ENSP00000376016:K395N	ENSP00000338934:K427N	K	-	3	2	EZR	159110409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.236000	0.51336	2.455000	0.83008	0.561000	0.74099	AAG	EZR	-	pirsf_ERM,pfam_ERM_C		0.572	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	HGNC	protein_coding	OTTHUMT00000042878.1	C	NM_003379		159190421	-1	no_errors	ENST00000337147	ensembl	human	known	70_37	missense	SNP	1.000	A
F5	2153	genome.wustl.edu	37	1	169484809	169484809	+	Missense_Mutation	SNP	G	G	A	rs199601865		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:169484809G>A	ENST00000367797.3	-	24	6602	c.6401C>T	c.(6400-6402)aCg>aTg	p.T2134M	F5_ENST00000367796.3_Missense_Mutation_p.T2139M	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2134	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TATAATTGCCGTTATCTTCTT	0.388																																																	0								G	MET/THR	0,4406		0,0,2203	139.0	131.0	134.0		6401	5.6	1.0	1		134	1,8599	1.2+/-3.3	0,1,4299	yes	missense	F5	NM_000130.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2134/2225	169484809	1,13005	2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6401C>T	1.37:g.169484809G>A	ENSP00000356771:p.Thr2134Met		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T2139M	ENST00000367797.3	37	c.6416	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237075	0.58886	0.0	1.16E-4	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98531	-4.98;-4.98	5.61	5.61	0.85477	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	M	0.86502	2.82	0.46654	D	0.999149	D	0.89917	1.0	D	0.97110	1.0	D	0.99824	1.1049	9	0.87932	D	0	-20.207	19.223	0.93806	0.0:0.0:1.0:0.0	.	2134	P12259	FA5_HUMAN	M	2134;2139	ENSP00000356771:T2134M;ENSP00000356770:T2139M	ENSP00000356770:T2139M	T	-	2	0	F5	167751433	1.000000	0.71417	0.965000	0.40720	0.256000	0.26092	6.240000	0.72363	2.635000	0.89317	0.467000	0.42956	ACG	F5	-	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		0.388	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	G	NM_000130		169484809	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	missense	SNP	0.999	A
F5	2153	genome.wustl.edu	37	1	169511810	169511810	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:169511810G>T	ENST00000367797.3	-	13	2719	c.2518C>A	c.(2518-2520)Cta>Ata	p.L840I	F5_ENST00000367796.3_Missense_Mutation_p.L845I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	840	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCTGGCTGTAGAGGATCCTCT	0.463																																																	0													165.0	160.0	162.0					1																	169511810		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2518C>A	1.37:g.169511810G>T	ENSP00000356771:p.Leu840Ile		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.L845I	ENST00000367797.3	37	c.2533	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.736217	0.30774	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.25250	1.81;1.81	5.3	0.739	0.18324	.	0.885835	0.09379	N	0.810263	T	0.04952	0.0133	L	0.39898	1.24	0.09310	N	1	B	0.30068	0.267	B	0.25140	0.058	T	0.40384	-0.9566	10	0.19147	T	0.46	-6.0E-4	1.8711	0.03208	0.2012:0.1556:0.4842:0.159	.	840	P12259	FA5_HUMAN	I	840;845	ENSP00000356771:L840I;ENSP00000356770:L845I	ENSP00000356770:L845I	L	-	1	2	F5	167778434	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	0.325000	0.19628	0.243000	0.21327	0.585000	0.79938	CTA	F5	-	NULL		0.463	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	G	NM_000130		169511810	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	missense	SNP	0.000	T
F5	2153	genome.wustl.edu	37	1	169512260	169512260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:169512260C>A	ENST00000367797.3	-	13	2269	c.2068G>T	c.(2068-2070)Gaa>Taa	p.E690*	F5_ENST00000367796.3_Nonsense_Mutation_p.E695*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	690					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TATGAGTCTTCATCATCATCT	0.393																																																	0													155.0	153.0	153.0					1																	169512260		2203	4300	6503	SO:0001587	stop_gained	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2068G>T	1.37:g.169512260C>A	ENSP00000356771:p.Glu690*		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E695*	ENST00000367797.3	37	c.2083	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.337726	0.98221	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.98	4.02	0.46733	.	1.107960	0.06563	N	0.747134	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-3.2146	10.6328	0.45547	0.1335:0.7971:0.0:0.0694	.	.	.	.	X	690;695	.	ENSP00000356770:E695X	E	-	1	0	F5	167778884	0.002000	0.14202	0.234000	0.24042	0.118000	0.20060	0.611000	0.24268	2.837000	0.97791	0.591000	0.81541	GAA	F5	-	NULL		0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	C	NM_000130		169512260	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	nonsense	SNP	0.213	A
F13B	2165	genome.wustl.edu	37	1	197031009	197031009	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:197031009G>A	ENST00000367412.1	-	3	399	c.356C>T	c.(355-357)gCt>gTt	p.A119V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	119	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTACCCTGAAGCGCAACCATA	0.403																																																	0													137.0	114.0	122.0					1																	197031009		2203	4300	6503	SO:0001583	missense	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.356C>T	1.37:g.197031009G>A	ENSP00000356382:p.Ala119Val		A8K3E5|Q5VYL5	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.A119V	ENST00000367412.1	37	c.356	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	G	5.973	0.363490	0.11296	.	.	ENSG00000143278	ENST00000367412	T	0.64438	-0.1	5.85	1.68	0.24146	Complement control module (2);Sushi/SCR/CCP (3);	1.225850	0.06381	N	0.715225	T	0.53254	0.1785	L	0.38175	1.15	0.09310	N	1	B	0.30727	0.292	B	0.34590	0.186	T	0.38714	-0.9648	10	0.15499	T	0.54	.	10.352	0.43941	0.0648:0.0:0.4412:0.494	.	119	P05160	F13B_HUMAN	V	119	ENSP00000356382:A119V	ENSP00000356382:A119V	A	-	2	0	F13B	195297632	0.022000	0.18835	0.002000	0.10522	0.094000	0.18550	1.875000	0.39578	0.366000	0.24427	-0.181000	0.13052	GCT	F13B	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.403	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2	G	NM_001994		197031009	-1	no_errors	ENST00000367412	ensembl	human	known	70_37	missense	SNP	0.001	A
F8	2157	genome.wustl.edu	37	X	154156997	154156997	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:154156997C>A	ENST00000360256.4	-	14	5268	c.5068G>T	c.(5068-5070)Gaa>Taa	p.E1690*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1690					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)	TTCTTCATTTCAACTGATATG	0.393																																																	0													127.0	109.0	115.0					X																	154156997		2203	4300	6503	SO:0001587	stop_gained	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.5068G>T	X.37:g.154156997C>A	ENSP00000353393:p.Glu1690*		Q14286|Q5HY69	Nonsense_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.E1690*	ENST00000360256.4	37	c.5068	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	c	45	11.567071	0.99577	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.0	5.0	0.66597	.	0.289499	0.37261	N	0.002170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-9.1061	12.7123	0.57096	0.0:1.0:0.0:0.0	.	.	.	.	X	1690	.	ENSP00000353393:E1690X	E	-	1	0	F8	153810191	0.943000	0.32029	0.172000	0.22920	0.521000	0.34408	2.491000	0.45303	2.053000	0.61076	0.540000	0.68198	GAA	F8	-	NULL		0.393	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	C			154156997	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	nonsense	SNP	0.807	A
FABP4	2167	genome.wustl.edu	37	8	82395402	82395402	+	Start_Codon_SNP	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:82395402T>C	ENST00000256104.4	-	1	96	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	1					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GCATCACACATTTTGTGAGTT	0.403																																					NSCLC(35;550 1252 19644 48360)												0													87.0	84.0	85.0					8																	82395402		2202	4300	6502	SO:0001582	initiator_codon_variant	2167			J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"""Fatty acid binding protein family"""	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.1A>G	8.37:g.82395402T>C	ENSP00000256104:p.Met1Val		Q6IBA1	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.M1V	ENST00000256104.4	37	c.1	CCDS6230.1	8	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357268	0.82243	.	.	ENSG00000170323	ENST00000256104	T	0.12879	2.64	6.07	6.07	0.98685	Calycin (1);	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.28038	-1.0056	9	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	1	P15090	FABP4_HUMAN	V	1	ENSP00000256104:M1V	ENSP00000256104:M1V	M	-	1	0	FABP4	82557957	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.622000	0.83099	2.326000	0.78906	0.533000	0.62120	ATG	FABP4	-	NULL		0.403	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP4	HGNC	protein_coding	OTTHUMT00000379368.1	T	NM_001442	Missense_Mutation	82395402	-1	no_errors	ENST00000256104	ensembl	human	known	70_37	missense	SNP	1.000	C
FADS6	283985	genome.wustl.edu	37	17	72889601	72889601	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:72889601C>A	ENST00000310226.6	-	1	107	c.93G>T	c.(91-93)gaG>gaT	p.E31D		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	37					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GCACCAGCACCTCCAGCTCCC	0.706																																																	0													11.0	16.0	14.0					17																	72889601		2169	4271	6440	SO:0001583	missense	283985			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.93G>T	17.37:g.72889601C>A	ENSP00000307821:p.Glu31Asp		Q17RQ7|Q6XYE1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1	p.E31D	ENST00000310226.6	37	c.93	CCDS54163.1	17	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047327	0.19827	.	.	ENSG00000172782	ENST00000310226	.	.	.	4.04	4.04	0.47022	.	0.241813	0.36066	U	0.002819	T	0.29620	0.0739	M	0.62723	1.935	0.23396	N	0.997766	P	0.34662	0.462	B	0.28553	0.091	T	0.29971	-0.9994	9	0.02654	T	1	-20.8299	7.9777	0.30164	0.0:0.8832:0.0:0.1168	.	37	Q8N9I5	FADS6_HUMAN	D	31	.	ENSP00000307821:E31D	E	-	3	2	FADS6	70401196	0.723000	0.28027	0.902000	0.35471	0.277000	0.26821	0.593000	0.23999	1.828000	0.53243	0.449000	0.29647	GAG	FADS6	-	NULL		0.706	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS6	HGNC	protein_coding	OTTHUMT00000445219.1	C			72889601	-1	no_errors	ENST00000310226	ensembl	human	known	70_37	missense	SNP	0.869	A
FAH	2184	genome.wustl.edu	37	15	80452212	80452212	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:80452212C>T	ENST00000407106.1	+	4	462	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	FAH_ENST00000539156.1_Missense_Mutation_p.R33W|FAH_ENST00000261755.5_Missense_Mutation_p.R103W|FAH_ENST00000561421.1_Missense_Mutation_p.R103W			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	103					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACCGAACTTCGGAAGTGGTG	0.577									Tyrosinemia, type 1																																								0													89.0	67.0	74.0					15																	80452212		2203	4300	6503	SO:0001583	missense	2184	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.307C>T	15.37:g.80452212C>T	ENSP00000385080:p.Arg103Trp		B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	p.R103W	ENST00000407106.1	37	c.307	CCDS10314.1	15	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825421	0.50739	.	.	ENSG00000103876	ENST00000407106;ENST00000537726;ENST00000261755;ENST00000539156	D;D;D	0.88975	-2.45;-2.45;-2.45	4.57	3.64	0.41730	Fumarylacetoacetase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94122	0.8115	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.87578	0.998;0.854;0.994	D	0.94545	0.7748	10	0.87932	D	0	-30.6804	13.0128	0.58741	0.1627:0.8373:0.0:0.0	.	103;33;103	B7Z4W2;Q53XA7;P16930	.;.;FAAA_HUMAN	W	103;103;103;33	ENSP00000385080:R103W;ENSP00000261755:R103W;ENSP00000454271:R33W	ENSP00000261755:R103W	R	+	1	2	FAH	78239267	1.000000	0.71417	0.878000	0.34440	0.067000	0.16453	3.187000	0.50950	1.138000	0.42230	0.591000	0.81541	CGG	FAH	-	pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase		0.577	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2	C			80452212	+1	no_errors	ENST00000261755	ensembl	human	known	70_37	missense	SNP	0.998	T
FAM105A	54491	genome.wustl.edu	37	5	14602325	14602325	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:14602325A>G	ENST00000274217.3	+	5	502	c.382A>G	c.(382-384)Aaa>Gaa	p.K128E		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	128	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GCATCACATTAAATGTGTTCG	0.353																																																	0													108.0	103.0	105.0					5																	14602325		2203	4300	6503	SO:0001583	missense	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.382A>G	5.37:g.14602325A>G	ENSP00000274217:p.Lys128Glu		Q53H50|Q9H037	Missense_Mutation	SNP	prints_FAM105,prints_FAM105A	p.K128E	ENST00000274217.3	37	c.382	CCDS3884.1	5	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545861	0.65198	.	.	ENSG00000145569	ENST00000274217	T	0.16073	2.37	4.7	3.49	0.39957	.	0.070853	0.56097	D	0.000021	T	0.31827	0.0809	L	0.50919	1.6	0.30022	N	0.814264	D	0.71674	0.998	D	0.80764	0.994	T	0.10800	-1.0614	10	0.30854	T	0.27	-19.2759	11.4921	0.50387	0.8493:0.1507:0.0:0.0	.	128	Q9NUU6	F105A_HUMAN	E	128	ENSP00000274217:K128E	ENSP00000274217:K128E	K	+	1	0	FAM105A	14655325	1.000000	0.71417	0.936000	0.37596	0.993000	0.82548	3.331000	0.52075	0.718000	0.32166	0.454000	0.30748	AAA	FAM105A	-	NULL		0.353	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	HGNC	protein_coding	OTTHUMT00000253710.1	A	NM_019018		14602325	+1	no_errors	ENST00000274217	ensembl	human	known	70_37	missense	SNP	0.997	G
AMER1	139285	genome.wustl.edu	37	X	63412951	63412951	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:63412951G>T	ENST00000330258.3	-	2	488	c.216C>A	c.(214-216)ttC>ttA	p.F72L	AMER1_ENST00000374869.3_Missense_Mutation_p.F72L|AMER1_ENST00000403336.1_Missense_Mutation_p.F72L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	72					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CCCCTCCAAAGAAACTAGGCA	0.547																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											132.0	108.0	116.0					X																	63412951		2203	4300	6503	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.216C>A	X.37:g.63412951G>T	ENSP00000329117:p.Phe72Leu		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.F72L	ENST00000330258.3	37	c.216	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287978	0.59976	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.56611	0.45;0.51;0.45	4.52	1.64	0.23874	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.66939	2.045	0.33445	D	0.582969	B	0.25390	0.125	B	0.20184	0.028	T	0.48127	-0.9062	10	0.62326	D	0.03	-11.841	3.6861	0.08328	0.3172:0.0:0.508:0.1748	.	72	Q5JTC6	F123B_HUMAN	L	72	ENSP00000364003:F72L;ENSP00000329117:F72L;ENSP00000384722:F72L	ENSP00000329117:F72L	F	-	3	2	FAM123B	63329676	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	0.409000	0.21082	0.204000	0.20548	0.600000	0.82982	TTC	FAM123B	-	NULL		0.547	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	G	NM_152424		63412951	-1	no_errors	ENST00000330258	ensembl	human	known	70_37	missense	SNP	0.997	T
FAM131A	131408	genome.wustl.edu	37	3	184055357	184055357	+	5'Flank	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:184055357G>T	ENST00000310585.4	+	0	0				FAM131A_ENST00000383847.2_5'UTR|FAM131A_ENST00000497070.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000450976.1_Intron|FAM131A_ENST00000453072.1_5'Flank|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000340957.5_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A							extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AACAGGAATAGAACTGGGAGC	0.527																																																	0																																										SO:0001631	upstream_gene_variant	131408			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206		3.37:g.184055357G>T	Exception_encountered		D3DNT6|G5E9B1|Q8TA84	RNA	SNP	-	NULL	ENST00000310585.4	37	NULL		3																																																																																			FAM131A	-	-		0.527	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	G	NM_144635		184055357	+1	no_errors	ENST00000497070	ensembl	human	known	70_37	rna	SNP	1.000	T
FAM133A	286499	genome.wustl.edu	37	X	92964553	92964553	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:92964553G>T	ENST00000355813.5	+	4	661	c.135G>T	c.(133-135)aaG>aaT	p.K45N	FAM133A_ENST00000538690.1_Missense_Mutation_p.K45N|FAM133A_ENST00000332647.4_Missense_Mutation_p.K45N|FAM133A_ENST00000322139.4_Missense_Mutation_p.K45N	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	45	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAGAAGTAAAGAAACAATTAG	0.368																																																	0													26.0	26.0	26.0					X																	92964553		2177	4276	6453	SO:0001583	missense	286499			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.135G>T	X.37:g.92964553G>T	ENSP00000348067:p.Lys45Asn			Missense_Mutation	SNP	NULL	p.K45N	ENST00000355813.5	37	c.135	CCDS14466.1	X	.	.	.	.	.	.	.	.	.	.	g	14.78	2.638688	0.47153	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	3.07	2.11	0.27256	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	M	0.85197	2.74	0.24192	N	0.995546	D	0.54964	0.969	P	0.54431	0.752	T	0.52660	-0.8546	10	0.72032	D	0.01	-4.6298	4.4357	0.11549	0.2164:0.0:0.7836:0.0	.	45	Q8N9E0	F133A_HUMAN	N	45	ENSP00000441389:K45N;ENSP00000348067:K45N;ENSP00000318974:K45N;ENSP00000362169:K45N	ENSP00000318974:K45N	K	+	3	2	FAM133A	92851209	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	2.522000	0.45572	0.603000	0.29913	0.591000	0.81541	AAG	FAM133A	-	NULL		0.368	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133A	HGNC	protein_coding	OTTHUMT00000057452.1	G	NM_173698		92964553	+1	no_errors	ENST00000322139	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM135B	51059	genome.wustl.edu	37	8	139163664	139163664	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:139163664C>T	ENST00000395297.1	-	13	3224	c.3054G>A	c.(3052-3054)gaG>gaA	p.E1018E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1018										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAGTAAAGGTCTCTGCAGAAG	0.527										HNSCC(54;0.14)																																							0													74.0	73.0	73.0					8																	139163664		2203	4300	6503	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3054G>A	8.37:g.139163664C>T			B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.E1018	ENST00000395297.1	37	c.3054	CCDS6375.2	8																																																																																			FAM135B	-	NULL		0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	C	NM_015912		139163664	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	silent	SNP	0.681	T
FAM135B	51059	genome.wustl.edu	37	8	139380195	139380195	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:139380195G>A	ENST00000395297.1	-	2	202	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	11								p.S11L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGCTCTACCGAAAACTCAAC	0.368										HNSCC(54;0.14)																																							2	Substitution - Missense(2)	large_intestine(2)											153.0	146.0	148.0					8																	139380195		1863	4102	5965	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.32C>T	8.37:g.139380195G>A	ENSP00000378710:p.Ser11Leu		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.S11L	ENST00000395297.1	37	c.32	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	31	5.091740	0.94149	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.15718	2.4	5.54	5.54	0.83059	.	0.000000	0.53938	U	0.000057	T	0.36608	0.0973	L	0.51853	1.615	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.00878	-1.1530	10	0.23302	T	0.38	-8.1994	18.3941	0.90493	0.0:0.0:1.0:0.0	.	11	Q49AJ0	F135B_HUMAN	L	11	ENSP00000378710:S11L	ENSP00000160713:S11L	S	-	2	0	FAM135B	139449377	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.084000	0.94076	2.768000	0.95171	0.561000	0.74099	TCG	FAM135B	-	NULL		0.368	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	G	NM_015912		139380195	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM157C	100996541	genome.wustl.edu	37	16	90244211	90244211	+	RNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:90244211A>C	ENST00000570230.1	+	0	1643							P0CG43	F157C_HUMAN	family with sequence similarity 157, member C																		TGGAAGGAGAAATCATAGATT	0.398																																																	0																																												100996541					16q24.3	2013-01-24	2013-01-18	2013-01-18	ENSG00000260528	ENSG00000260528			34081	other	unknown							Standard	XR_429804		Approved			P0CG43	OTTHUMG00000172848		16.37:g.90244211A>C				RNA	SNP	-	NULL	ENST00000570230.1	37	NULL		16																																																																																			FAM157C	-	-		0.398	FAM157C-004	KNOWN	basic	processed_transcript	FAM157C	HGNC	processed_transcript	OTTHUMT00000420872.1	A			90244211	+1	no_errors	ENST00000570230	ensembl	human	known	70_37	rna	SNP	0.970	C
FAM193B	54540	genome.wustl.edu	37	5	176959530	176959530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:176959530G>A	ENST00000514747.1	-	5	1237	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000443375.2_Nonsense_Mutation_p.R284*|FAM193B_ENST00000329540.5_5'UTR	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	397						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						CAGGAGCTTCGCTCAGAGCTG	0.602																																																	0													29.0	34.0	33.0					5																	176959530		2080	4240	6320	SO:0001587	stop_gained	54540				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1189C>T	5.37:g.176959530G>A	ENSP00000422131:p.Arg397*		E9PET5|Q9NW00	Nonsense_Mutation	SNP	NULL	p.R284*	ENST00000514747.1	37	c.850	CCDS54954.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.493186|5.493186	0.96339|0.96339	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000524677|ENST00000514747;ENST00000443375	.|.	.|.	.|.	5.27|5.27	4.4|4.4	0.53042|0.53042	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|.	0.40909|.	0.1136|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26950|.	-1.0088|.	4|.	.|0.02654	.|T	.|1	-5.5911|-5.5911	14.0544|14.0544	0.64759|0.64759	0.0729:0.0:0.9271:0.0|0.0729:0.0:0.9271:0.0	.|.	.|.	.|.	.|.	V|X	2|397;284	.|.	.|ENSP00000410098:R284X	A|R	-|-	2|1	0|2	FAM193B|FAM193B	176892136|176892136	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.974000|0.974000	0.67602|0.67602	5.030000|5.030000	0.64128|0.64128	1.220000|1.220000	0.43490|0.43490	0.467000|0.467000	0.42956|0.42956	GCG|CGA	FAM193B	-	NULL		0.602	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	HGNC	protein_coding	OTTHUMT00000373121.1	G	NM_019057		176959530	-1	no_errors	ENST00000443375	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FAM19A1	407738	genome.wustl.edu	37	3	68466528	68466528	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:68466528A>G	ENST00000478136.1	+	3	707	c.217A>G	c.(217-219)Aaa>Gaa	p.K73E	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.K73E	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	73						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TCTACCTGGAAAAGTGGCTGG	0.453																																																	0													144.0	145.0	144.0					3																	68466528		1924	4124	6048	SO:0001583	missense	407738			AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.217A>G	3.37:g.68466528A>G	ENSP00000418575:p.Lys73Glu		A8K0V3|Q8TCL8	Missense_Mutation	SNP	pfam_Chemokine-like_FAM19A2	p.K73E	ENST00000478136.1	37	c.217	CCDS54606.1	3	.	.	.	.	.	.	.	.	.	.	A	27.9	4.875294	0.91664	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.55	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	N	0.14661	0.345	0.37935	D	0.932123	D	0.69078	0.997	D	0.77004	0.989	T	0.64927	-0.6292	9	0.87932	D	0	.	12.9419	0.58350	0.8644:0.1356:0.0:0.0	.	73	Q7Z5A9	F19A1_HUMAN	E	73	.	ENSP00000418575:K73E	K	+	1	0	FAM19A1	68549218	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	9.283000	0.95860	1.013000	0.39391	0.482000	0.46254	AAA	FAM19A1	-	pfam_Chemokine-like_FAM19A2		0.453	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A1	HGNC	protein_coding	OTTHUMT00000352004.1	A	NM_213609		68466528	+1	no_errors	ENST00000478136	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM205A	259308	genome.wustl.edu	37	9	34726806	34726806	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:34726806G>A	ENST00000378788.3	-	4	470	c.431C>T	c.(430-432)aCg>aTg	p.T144M		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	144						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						CATACTAGACGTAGACAGCAT	0.483																																																	0													80.0	72.0	74.0					9																	34726806		692	1591	2283	SO:0001583	missense	259308				CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.431C>T	9.37:g.34726806G>A	ENSP00000417711:p.Thr144Met		A8MVW7	Missense_Mutation	SNP	NULL	p.T144M	ENST00000378788.3	37	c.431	CCDS55305.1	9	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.445877	0.01089	.	.	ENSG00000205108	ENST00000378788	T	0.23147	1.92	4.17	-5.28	0.02755	.	2.447740	0.02559	N	0.096511	T	0.12390	0.0301	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20907	-1.0261	10	0.30078	T	0.28	.	6.3391	0.21312	0.2277:0.3113:0.461:0.0	.	144	Q6ZU69	F205A_HUMAN	M	144	ENSP00000417711:T144M	ENSP00000417711:T144M	T	-	2	0	RP11-195F19.10	34716806	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.697000	0.05098	-0.710000	0.05001	-0.295000	0.09555	ACG	FAM205A	-	NULL		0.483	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM205A	HGNC	protein_coding	OTTHUMT00000001150.2	G	NM_001141917		34726806	-1	no_errors	ENST00000378788	ensembl	human	novel	70_37	missense	SNP	0.000	A
FAM208B	54906	genome.wustl.edu	37	10	5768852	5768852	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:5768852T>G	ENST00000328090.5	+	9	981	c.356T>G	c.(355-357)aTc>aGc	p.I119S	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	119																	TTTAAGGCAATCATCAAATGC	0.343																																																	0													133.0	128.0	129.0					10																	5768852		1825	4073	5898	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.356T>G	10.37:g.5768852T>G	ENSP00000328426:p.Ile119Ser		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.I119S	ENST00000328090.5	37	c.356	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	T	18.56	3.650802	0.67472	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.17691	2.26	5.62	5.62	0.85841	.	0.319446	0.26971	N	0.021562	T	0.38108	0.1028	M	0.62723	1.935	0.29717	N	0.83896	D	0.76494	0.999	D	0.71656	0.974	T	0.34576	-0.9823	10	0.87932	D	0	.	13.1949	0.59732	0.0:0.0:0.0:1.0	.	119	Q5VWN6	F208B_HUMAN	S	119	ENSP00000328426:I119S	ENSP00000328426:I119S	I	+	2	0	C10orf18	5808858	1.000000	0.71417	0.997000	0.53966	0.785000	0.44390	4.353000	0.59411	2.138000	0.66242	0.377000	0.23210	ATC	FAM208B	-	pfam_DUF3699		0.343	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	T	NM_017782		5768852	+1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM214A	56204	genome.wustl.edu	37	15	52902315	52902315	+	Missense_Mutation	SNP	G	G	A	rs376021732		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:52902315G>A	ENST00000261844.7	-	6	948	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C	FAM214A_ENST00000546305.2_Missense_Mutation_p.R273C	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	266																	CTACACAGACGCTGTGAACTG	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21690	0.0		0.0	False		,,,				2504	0.0																0													196.0	164.0	174.0					15																	52902315		1929	4140	6069	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.796C>T	15.37:g.52902315G>A	ENSP00000261844:p.Arg266Cys		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.R266C	ENST00000261844.7	37	c.796	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588322	0.28357	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.33865	1.4;1.39	4.76	2.81	0.32909	.	0.554068	0.22437	N	0.060072	T	0.33294	0.0858	L	0.60455	1.87	0.40266	D	0.978233	B;B	0.20780	0.048;0.028	B;B	0.16289	0.015;0.007	T	0.22277	-1.0221	10	0.87932	D	0	.	9.8905	0.41288	0.0742:0.0:0.7837:0.1421	.	273;266	F5H8G0;Q32MH5	.;K1370_HUMAN	C	266;266;265;273	ENSP00000261844:R266C;ENSP00000443598:R273C	ENSP00000261844:R266C	R	-	1	0	KIAA1370	50689607	0.972000	0.33761	0.998000	0.56505	0.994000	0.84299	3.771000	0.55318	0.631000	0.30412	0.655000	0.94253	CGT	FAM214A	-	NULL		0.388	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	G	NM_019600		52902315	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM221B	392307	genome.wustl.edu	37	9	35821622	35821622	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:35821622C>A	ENST00000423537.2	-	4	1012				TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B											endometrium(2)|kidney(1)|lung(4)	7						GTTCCGAATTCTGTCTGGAGT	0.552																																																	0													74.0	71.0	72.0					9																	35821622		1903	4126	6029	SO:0001627	intron_variant	392307			BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.743-1625G>T	9.37:g.35821622C>A			Q5TCW2	Missense_Mutation	SNP	NULL	p.R249I	ENST00000423537.2	37	c.746	CCDS43799.2	9																																																																																			FAM221B	-	NULL		0.552	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM221B	HGNC	protein_coding	OTTHUMT00000355861.1	C	NM_001012446		35821622	-1	no_errors	ENST00000388950	ensembl	human	known	70_37	missense	SNP	0.002	A
FAM228B	375190	genome.wustl.edu	37	2	24369682	24369682	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:24369682G>T	ENST00000584973.1	+	4	310	c.221G>T	c.(220-222)aGa>aTa	p.R74I	FAM228B_ENST00000407625.1_Missense_Mutation_p.R169I|FAM228B_ENST00000420135.2_Missense_Mutation_p.R169I																							AACGAAAAAAGAACTCTTCTT	0.378																																																	0													229.0	177.0	193.0					2																	24369682		692	1591	2283	SO:0001583	missense	375190																														ENST00000584973.1:c.221G>T	2.37:g.24369682G>T	ENSP00000463100:p.Arg74Ile			Missense_Mutation	SNP	NULL	p.R169I	ENST00000584973.1	37	c.506		2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946183	0.73672	.	.	ENSG00000219626	ENST00000407625;ENST00000420135	.	.	.	4.74	3.86	0.44501	.	.	.	.	.	T	0.69949	0.3168	M	0.62723	1.935	0.49130	D	0.999756	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.71401	-0.4604	8	0.87932	D	0	-27.3502	9.1895	0.37191	0.1016:0.0:0.8984:0.0	.	169;169	C9JGZ2;B5MD07	.;.	I	169	.	ENSP00000383879:R169I	R	+	2	0	AC008073.6	24223186	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.805000	0.62561	1.138000	0.42230	0.591000	0.81541	AGA	FAM228B	-	NULL		0.378	RP11-507M3.1-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	FAM228B	HGNC	protein_coding	OTTHUMT00000443615.1	G			24369682	+1	no_errors	ENST00000420135	ensembl	human	known	70_37	missense	SNP	1.000	T
NUTM2B	729262	genome.wustl.edu	37	10	81465963	81465963	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:81465963G>T	ENST00000429828.1	+	2	931	c.548G>T	c.(547-549)aGc>aTc	p.S183I	RP11-119F19.2_ENST00000596088.1_RNA|RP11-119F19.2_ENST00000600376.1_RNA|NUTM2B_ENST00000372321.1_Missense_Mutation_p.S116I|NUTM2B_ENST00000448135.1_Missense_Mutation_p.S183I|RP11-119F19.2_ENST00000601369.1_RNA	NM_001278495.1	NP_001265424.1	A6NNL0	NTM2B_HUMAN	NUT family member 2B	183																	ACCTTCCCCAGCACACCTCTG	0.672																																																	0																																										SO:0001583	missense	729262				CCDS60574.1	10q22.3	2014-08-13	2013-03-14	2013-03-14	ENSG00000188199	ENSG00000188199			23445	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member B"""	FAM22B			Standard	NM_001278495		Approved	bA119F19.1		A6NNL0	OTTHUMG00000018572	ENST00000429828.1:c.548G>T	10.37:g.81465963G>T	ENSP00000394623:p.Ser183Ile		A6NM73	Missense_Mutation	SNP	NULL	p.S183I	ENST00000429828.1	37	c.548		10	.	.	.	.	.	.	.	.	.	.	.	11.05	1.526031	0.27299	.	.	ENSG00000188199	ENST00000448135;ENST00000429828;ENST00000372321	T;T;T	0.30182	1.54;1.54;1.54	1.56	-0.513	0.11962	.	.	.	.	.	T	0.24967	0.0606	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30475	-0.9977	6	0.59425	D	0.04	.	3.058	0.06190	0.1895:0.2873:0.5233:0.0	.	.	.	.	I	183;183;116	ENSP00000391631:S183I;ENSP00000394623:S183I;ENSP00000361396:S116I	ENSP00000361396:S116I	S	+	2	0	FAM22B	81135969	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.086000	0.11233	-0.074000	0.12820	-0.582000	0.04134	AGC	FAM22B	-	NULL		0.672	NUTM2B-201	KNOWN	basic|appris_principal	protein_coding	FAM22B	HGNC	protein_coding		G	NG_012780		81465963	+1	no_errors	ENST00000429828	ensembl	human	known	70_37	missense	SNP	0.001	T
FAM26E	254228	genome.wustl.edu	37	6	116832890	116832890	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:116832890T>G	ENST00000368599.3	+	1	82	c.31T>G	c.(31-33)Ttc>Gtc	p.F11V	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	11					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTTAAAATTCTTCCTTAATCA	0.483																																																	0													104.0	108.0	106.0					6																	116832890		2203	4300	6503	SO:0001583	missense	254228			BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.31T>G	6.37:g.116832890T>G	ENSP00000357588:p.Phe11Val		B2RDJ9|B3KSR3	Missense_Mutation	SNP	NULL	p.F11V	ENST00000368599.3	37	c.31	CCDS5108.1	6	.	.	.	.	.	.	.	.	.	.	T	11.34	1.611315	0.28712	.	.	ENSG00000178033	ENST00000368599	T	0.17691	2.26	5.63	-4.28	0.03732	.	0.347388	0.37857	N	0.001914	T	0.03827	0.0108	L	0.48642	1.525	0.53005	D	0.999965	B	0.06786	0.001	B	0.08055	0.003	T	0.29701	-1.0003	10	0.30854	T	0.27	-4.93	4.6635	0.12653	0.3082:0.2628:0.0:0.429	.	11	Q8N5C1	FA26E_HUMAN	V	11	ENSP00000357588:F11V	ENSP00000357588:F11V	F	+	1	0	FAM26E	116939583	0.013000	0.17824	0.799000	0.32177	0.983000	0.72400	-0.784000	0.04633	-0.699000	0.05077	0.533000	0.62120	TTC	FAM26E	-	NULL		0.483	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26E	HGNC	protein_coding	OTTHUMT00000041956.1	T	NM_153711		116832890	+1	no_errors	ENST00000368599	ensembl	human	known	70_37	missense	SNP	0.942	G
FAM35A	54537	genome.wustl.edu	37	10	88911902	88911902	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:88911902C>A	ENST00000298784.1	+	3	905	c.791C>A	c.(790-792)cCt>cAt	p.P264H	FAM35A_ENST00000298786.4_Missense_Mutation_p.P264H|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	264										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGGCGGAGTCCTGTAAATAAA	0.378																																					Ovarian(175;703 2004 25460 32514 43441)												0													23.0	24.0	23.0					10																	88911902		2186	4290	6476	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.791C>A	10.37:g.88911902C>A	ENSP00000298784:p.Pro264His		O95885|Q9H991	Missense_Mutation	SNP	NULL	p.P264H	ENST00000298784.1	37	c.791	CCDS7383.1	10	.	.	.	.	.	.	.	.	.	.	c	3.425	-0.117256	0.06838	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.22336	1.96;1.96;1.96	3.79	-0.0422	0.13864	.	1.879090	0.03072	N	0.157336	T	0.12860	0.0312	N	0.22421	0.69	0.09310	N	1	P	0.36048	0.534	B	0.35550	0.205	T	0.15954	-1.0419	10	0.15499	T	0.54	-0.1906	3.8581	0.08984	0.2618:0.4493:0.2058:0.0831	.	264	Q86V20	FA35A_HUMAN	H	264	ENSP00000298786:P264H;ENSP00000298784:P264H;ENSP00000351064:P264H	ENSP00000298784:P264H	P	+	2	0	FAM35A	88901882	0.000000	0.05858	0.002000	0.10522	0.255000	0.26057	-0.268000	0.08607	0.135000	0.18707	0.537000	0.68136	CCT	FAM35A	-	NULL		0.378	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM35A	HGNC	protein_coding	OTTHUMT00000049196.2	C	NM_019054		88911902	+1	no_errors	ENST00000298786	ensembl	human	known	70_37	missense	SNP	0.000	A
RP1-274L7.1	0	genome.wustl.edu	37	X	129630139	129630139	+	lincRNA	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:129630139G>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							AAGCAAAAACGATTTCCACCA	0.408																																																	0													32.0	32.0	32.0					X																	129630139		2194	4273	6467			55855																															X.37:g.129630139G>A				RNA	SNP	-	NULL	ENST00000458525.1	37	NULL		X																																																																																			FAM45B	-	-		0.408	RP1-274L7.1-001	KNOWN	basic	lincRNA	FAM45B	HGNC	lincRNA	OTTHUMT00000058271.1	G			129630139	+1	no_errors	ENST00000592932	ensembl	human	known	70_37	rna	SNP	0.256	A
FAM50A	9130	genome.wustl.edu	37	X	153678638	153678638	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:153678638G>A	ENST00000393600.3	+	12	1092	c.982G>A	c.(982-984)Gac>Aac	p.D328N		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	328					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(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)					GGAACCCTACGACCCTGAAAA	0.622																																																	0													77.0	69.0	71.0					X																	153678638		2203	4300	6503	SO:0001583	missense	9130			BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.982G>A	X.37:g.153678638G>A	ENSP00000377225:p.Asp328Asn		A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	pfam_XAP5	p.D328N	ENST00000393600.3	37	c.982	CCDS14751.1	X	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294833	0.60086	.	.	ENSG00000071859	ENST00000393600	.	.	.	4.78	2.97	0.34412	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.85859	2.78	0.50039	D	0.999847	P	0.45634	0.863	B	0.42163	0.378	T	0.57551	-0.7792	9	0.36615	T	0.2	-29.8052	8.6296	0.33911	0.0892:0.1497:0.7611:0.0	.	328	Q14320	FA50A_HUMAN	N	328	.	ENSP00000377225:D328N	D	+	1	0	FAM50A	153331832	1.000000	0.71417	0.720000	0.30636	0.176000	0.22953	9.224000	0.95209	0.358000	0.24211	0.544000	0.68410	GAC	FAM50A	-	pfam_XAP5		0.622	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM50A	HGNC	protein_coding	OTTHUMT00000081643.2	G	NM_004699		153678638	+1	no_errors	ENST00000393600	ensembl	human	known	70_37	missense	SNP	0.994	A
FAM83B	222584	genome.wustl.edu	37	6	54804695	54804695	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:54804695C>T	ENST00000306858.7	+	5	1042	c.926C>T	c.(925-927)tCg>tTg	p.S309L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	309										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TACCAGCATTCGGTGTCTTCA	0.433																																																	0													106.0	103.0	104.0					6																	54804695		2203	4300	6503	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.926C>T	6.37:g.54804695C>T	ENSP00000304078:p.Ser309Leu		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.S309L	ENST00000306858.7	37	c.926	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	C	6.485	0.457673	0.12342	.	.	ENSG00000168143	ENST00000306858	T	0.08720	3.06	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000010	T	0.06554	0.0168	M	0.73598	2.24	0.09310	N	0.999996	B	0.24721	0.11	B	0.12837	0.008	T	0.08911	-1.0699	10	0.32370	T	0.25	-8.9368	19.375	0.94505	0.0:1.0:0.0:0.0	.	309	Q5T0W9	FA83B_HUMAN	L	309	ENSP00000304078:S309L	ENSP00000304078:S309L	S	+	2	0	FAM83B	54912654	0.929000	0.31497	0.012000	0.15200	0.086000	0.17979	3.281000	0.51685	2.648000	0.89879	0.591000	0.81541	TCG	FAM83B	-	NULL		0.433	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	C	XM_294139		54804695	+1	no_errors	ENST00000306858	ensembl	human	known	70_37	missense	SNP	0.045	T
ALG1L	200810	genome.wustl.edu	37	3	125647651	125647651	+	IGR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:125647651A>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TTCTTAAGGAAATCGCCATCA	0.423																																																	0													8.0	9.0	8.0					3																	125647651		692	1591	2283	SO:0001628	intergenic_variant	100125556			BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647651A>C			D3DNA5	RNA	SNP	-	NULL	ENST00000340333.3	37	NULL	CCDS33840.1	3																																																																																			FAM86JP	-	-		0.423	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86JP	HGNC	protein_coding	OTTHUMT00000356347.1	A	NM_001015050		125647651	+1	no_errors	ENST00000467239	ensembl	human	known	70_37	rna	SNP	0.001	C
FAN1	22909	genome.wustl.edu	37	15	31197563	31197563	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:31197563G>T	ENST00000362065.4	+	2	988	c.697G>T	c.(697-699)Gga>Tga	p.G233*	FAN1_ENST00000565466.1_Nonsense_Mutation_p.G233*|FAN1_ENST00000561594.1_Nonsense_Mutation_p.G233*|FAN1_ENST00000561607.1_Nonsense_Mutation_p.G233*	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	233			G -> E (in dbSNP:rs4779794). {ECO:0000269|PubMed:15489334}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TATGGTAAGAGGAAGTAAAAT	0.408								Direct reversal of damage																																									0													53.0	52.0	52.0					15																	31197563		2202	4300	6502	SO:0001587	stop_gained	22909				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.697G>T	15.37:g.31197563G>T	ENSP00000354497:p.Gly233*		A8K4M2|Q86WU8	Nonsense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.G233*	ENST00000362065.4	37	c.697	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.271187	0.95429	.	.	ENSG00000198690	ENST00000362065	.	.	.	5.18	-0.875	0.10628	.	1.092420	0.06802	N	0.788905	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-2.2897	8.9237	0.35628	0.5012:0.0:0.4988:0.0	.	.	.	.	X	233	.	ENSP00000354497:G233X	G	+	1	0	FAN1	28984855	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.658000	0.24979	-0.113000	0.11958	-0.140000	0.14226	GGA	FAN1	-	NULL		0.408	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	G	NM_014967		31197563	+1	no_errors	ENST00000362065	ensembl	human	known	70_37	nonsense	SNP	0.000	T
FASTKD1	79675	genome.wustl.edu	37	2	170411698	170411698	+	Nonsense_Mutation	SNP	C	C	A	rs12618227	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:170411698C>A	ENST00000453153.2	-	7	1496	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	FASTKD1_ENST00000453929.2_Nonsense_Mutation_p.E384*	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	384			E -> Q (in dbSNP:rs12618227).		cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.E384*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AAAGTTAATTCTTGAGTTATC	0.299																																																	1	Substitution - Nonsense(1)	large_intestine(1)											73.0	78.0	76.0					2																	170411698		2201	4300	6501	SO:0001587	stop_gained	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1150G>T	2.37:g.170411698C>A	ENSP00000400513:p.Glu384*		Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Nonsense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.E384*	ENST00000453153.2	37	c.1150	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.815850	0.96982	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	.	.	.	4.84	3.04	0.35103	.	0.408805	0.27946	N	0.017214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-9.8948	4.3534	0.11167	0.1921:0.6197:0.0:0.1882	.	.	.	.	X	384	.	ENSP00000400513:E384X	E	-	1	0	FASTKD1	170119944	0.321000	0.24625	0.556000	0.28293	0.504000	0.33889	0.243000	0.18106	0.629000	0.30376	0.650000	0.86243	GAA	FASTKD1	-	NULL		0.299	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	C	NM_024622		170411698	-1	no_errors	ENST00000453153	ensembl	human	known	70_37	nonsense	SNP	0.391	A
FASTKD3	79072	genome.wustl.edu	37	5	7867647	7867647	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:7867647C>T	ENST00000264669.5	-	2	686	c.550G>A	c.(550-552)Gct>Act	p.A184T	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	184					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.A184T(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGAATCAGAGCTTGCAAAGCA	0.433																																																	1	Substitution - Missense(1)	breast(1)											80.0	79.0	79.0					5																	7867647		2203	4300	6503	SO:0001583	missense	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.550G>A	5.37:g.7867647C>T	ENSP00000264669:p.Ala184Thr		Q9BVD3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.A184T	ENST00000264669.5	37	c.550	CCDS3873.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215487	0.79352	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.28895	1.59;1.59;1.59	4.96	3.08	0.35506	.	0.107172	0.64402	D	0.000006	T	0.47930	0.1472	M	0.72894	2.215	0.47511	D	0.999441	D	0.56968	0.978	P	0.57776	0.827	T	0.49123	-0.8972	10	0.52906	T	0.07	-11.2512	13.4095	0.60933	0.3166:0.6834:0.0:0.0	.	184	Q14CZ7	FAKD3_HUMAN	T	184;184;167	ENSP00000264669:A184T;ENSP00000426008:A184T;ENSP00000422443:A167T	ENSP00000264669:A184T	A	-	1	0	FASTKD3	7920647	0.931000	0.31567	0.340000	0.25575	0.776000	0.43924	1.962000	0.40442	0.592000	0.29728	-0.284000	0.09977	GCT	FASTKD3	-	NULL		0.433	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD3	HGNC	protein_coding	OTTHUMT00000253673.1	C	NM_024091		7867647	-1	no_errors	ENST00000264669	ensembl	human	known	70_37	missense	SNP	0.993	T
FAT2	2196	genome.wustl.edu	37	5	150923212	150923212	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:150923212C>T	ENST00000261800.5	-	9	7488	c.7476G>A	c.(7474-7476)gaG>gaA	p.E2492E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2492	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATTGCATTCTCTGCTAATT	0.428																																																	0													92.0	96.0	95.0					5																	150923212		2203	4300	6503	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7476G>A	5.37:g.150923212C>T			O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E2492	ENST00000261800.5	37	c.7476	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.428	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	C	NM_001447		150923212	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	silent	SNP	0.996	T
FAT3	120114	genome.wustl.edu	37	11	92539659	92539659	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:92539659A>C	ENST00000298047.6	+	11	9242	c.9225A>C	c.(9223-9225)gaA>gaC	p.E3075D	FAT3_ENST00000409404.2_Missense_Mutation_p.E3075D|FAT3_ENST00000525166.1_Missense_Mutation_p.E2925D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3075	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAACAGTGAATTTTTTCTAG	0.323										TCGA Ovarian(4;0.039)																																							0													43.0	41.0	42.0					11																	92539659		1803	4052	5855	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9225A>C	11.37:g.92539659A>C	ENSP00000298047:p.Glu3075Asp		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E3075D	ENST00000298047.6	37	c.9225		11	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698214	0.30142	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02552	4.25;4.25;4.25	5.84	2.13	0.27403	.	.	.	.	.	T	0.01222	0.0040	N	0.02775	-0.495	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51513	-0.8696	9	0.10902	T	0.67	.	6.4431	0.21861	0.4746:0.3897:0.1357:0.0	.	3075	Q8TDW7-3	.	D	3075;3075;2925	ENSP00000298047:E3075D;ENSP00000387040:E3075D;ENSP00000432586:E2925D	ENSP00000298047:E3075D	E	+	3	2	FAT3	92179307	0.997000	0.39634	0.999000	0.59377	0.992000	0.81027	0.601000	0.24119	0.106000	0.17784	0.533000	0.62120	GAA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.323	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		A	NM_001008781		92539659	+1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	0.996	C
FAT4	79633	genome.wustl.edu	37	4	126373266	126373266	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:126373266G>A	ENST00000394329.3	+	9	11108	c.11095G>A	c.(11095-11097)Gtt>Att	p.V3699I	FAT4_ENST00000335110.5_Missense_Mutation_p.V1997I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3699					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAACATCCGAGTTTTCTTTGC	0.463																																																	0													169.0	160.0	163.0					4																	126373266		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11095G>A	4.37:g.126373266G>A	ENSP00000377862:p.Val3699Ile		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V3699I	ENST00000394329.3	37	c.11095	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151057	0.57151	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51817	0.69;0.69	5.77	5.77	0.91146	.	0.252095	0.20003	U	0.101294	T	0.36991	0.0987	L	0.31526	0.94	0.58432	D	0.999996	B;B;B	0.21309	0.054;0.032;0.054	B;B;B	0.19666	0.026;0.012;0.026	T	0.10706	-1.0618	10	0.27785	T	0.31	.	13.6437	0.62267	0.0793:0.0:0.9207:0.0	.	1997;3699;3699	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	3699;1997	ENSP00000377862:V3699I;ENSP00000335169:V1997I	ENSP00000335169:V1997I	V	+	1	0	FAT4	126592716	1.000000	0.71417	0.917000	0.36280	0.947000	0.59692	3.985000	0.56930	2.724000	0.93272	0.561000	0.74099	GTT	FAT4	-	superfamily_Cadherin-like		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126373266	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	1.000	A
FAT4	79633	genome.wustl.edu	37	4	126373322	126373322	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:126373322C>T	ENST00000394329.3	+	9	11164	c.11151C>T	c.(11149-11151)ctC>ctT	p.L3717L	FAT4_ENST00000335110.5_Silent_p.L2015L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3717					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACTTCGTCTCGGCGTACCAA	0.463																																																	0													179.0	167.0	171.0					4																	126373322		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11151C>T	4.37:g.126373322C>T			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L3717	ENST00000394329.3	37	c.11151	CCDS3732.3	4																																																																																			FAT4	-	NULL		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	C	NM_024582		126373322	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.000	T
FAT4	79633	genome.wustl.edu	37	4	126408558	126408558	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:126408558G>A	ENST00000394329.3	+	16	12888	c.12875G>A	c.(12874-12876)aGa>aAa	p.R4292K	FAT4_ENST00000335110.5_Missense_Mutation_p.R2533K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4292	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAGTGGAGAGAAATATTCCT	0.338																																																	0													68.0	71.0	70.0					4																	126408558		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12875G>A	4.37:g.126408558G>A	ENSP00000377862:p.Arg4292Lys		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R4292K	ENST00000394329.3	37	c.12875	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344826	0.61073	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.79033	-1.23;-1.21	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.35677	U	0.003054	D	0.82995	0.5158	M	0.63843	1.955	0.48975	D	0.999735	P;P;D	0.53151	0.919;0.934;0.958	P;P;P	0.54889	0.633;0.749;0.763	T	0.81464	-0.0921	10	0.31617	T	0.26	.	17.6564	0.88179	0.0:0.0:1.0:0.0	.	2533;4292;4292	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	K	4292;2533	ENSP00000377862:R4292K;ENSP00000335169:R2533K	ENSP00000335169:R2533K	R	+	2	0	FAT4	126628008	1.000000	0.71417	0.999000	0.59377	0.709000	0.40893	8.746000	0.91604	2.401000	0.81631	0.650000	0.86243	AGA	FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.338	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126408558	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXO34	55030	genome.wustl.edu	37	14	55817284	55817284	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:55817284G>A	ENST00000313833.4	+	2	421	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Missense_Mutation_p.R59Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	59										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GCATCATCTCGAAAGCCATTT	0.428																																																	0													149.0	144.0	146.0					14																	55817284		2203	4300	6503	SO:0001583	missense	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.176G>A	14.37:g.55817284G>A	ENSP00000313159:p.Arg59Gln		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R59Q	ENST00000313833.4	37	c.176	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437472	0.25900	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.29917	1.55;1.55	4.67	3.73	0.42828	.	0.586436	0.15351	N	0.266976	T	0.30324	0.0761	M	0.66939	2.045	0.42273	D	0.992067	B	0.28128	0.201	B	0.18263	0.021	T	0.09378	-1.0677	10	0.40728	T	0.16	.	10.6711	0.45760	0.1698:0.0:0.8302:0.0	.	59	Q9NWN3	FBX34_HUMAN	Q	59	ENSP00000313159:R59Q;ENSP00000394117:R59Q	ENSP00000313159:R59Q	R	+	2	0	FBXO34	54887037	1.000000	0.71417	0.304000	0.25085	0.003000	0.03518	3.693000	0.54735	1.241000	0.43820	-0.345000	0.07892	CGA	FBXO34	-	NULL		0.428	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	G			55817284	+1	no_errors	ENST00000313833	ensembl	human	known	70_37	missense	SNP	0.779	A
FBXO34	55030	genome.wustl.edu	37	14	55817886	55817886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:55817886G>T	ENST00000313833.4	+	2	1023	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	FBXO34_ENST00000440021.1_Nonsense_Mutation_p.E260*	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	260										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGCTTGTGAAGAACCCACAGA	0.512																																																	0													74.0	75.0	75.0					14																	55817886		2203	4300	6503	SO:0001587	stop_gained	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.778G>T	14.37:g.55817886G>T	ENSP00000313159:p.Glu260*		Q2VPB5|Q4VBP5|Q86TY4	Nonsense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.E260*	ENST00000313833.4	37	c.778	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080935	0.55753	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	.	.	.	5.39	5.39	0.77823	.	0.218384	0.28706	N	0.014404	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-31.8179	10.9426	0.47283	0.0:0.1394:0.7163:0.1444	.	.	.	.	X	260	.	ENSP00000313159:E260X	E	+	1	0	FBXO34	54887639	0.585000	0.26774	0.989000	0.46669	0.221000	0.24807	2.281000	0.43452	2.852000	0.98041	0.638000	0.83543	GAA	FBXO34	-	NULL		0.512	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	G			55817886	+1	no_errors	ENST00000313833	ensembl	human	known	70_37	nonsense	SNP	0.797	T
FBXO39	162517	genome.wustl.edu	37	17	6684086	6684086	+	Missense_Mutation	SNP	G	G	A	rs558767788		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:6684086G>A	ENST00000321535.4	+	2	1029	c.899G>A	c.(898-900)cGa>cAa	p.R300Q		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	300										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CGCTTGGCCCGAATCCTCTTG	0.522																																																	0													60.0	50.0	54.0					17																	6684086		2203	4300	6503	SO:0001583	missense	162517			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.899G>A	17.37:g.6684086G>A	ENSP00000321386:p.Arg300Gln			Missense_Mutation	SNP	NULL	p.R300Q	ENST00000321535.4	37	c.899	CCDS11082.1	17	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262464	0.59431	.	.	ENSG00000177294	ENST00000321535	T	0.52983	0.64	5.02	5.02	0.67125	.	0.000000	0.56097	D	0.000030	T	0.49932	0.1586	N	0.17082	0.46	0.43390	D	0.995509	D	0.69078	0.997	D	0.70227	0.968	T	0.39482	-0.9612	10	0.24483	T	0.36	-32.5728	14.5876	0.68339	0.0:0.0:1.0:0.0	.	300	Q8N4B4	FBX39_HUMAN	Q	300	ENSP00000321386:R300Q	ENSP00000321386:R300Q	R	+	2	0	FBXO39	6624810	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.405000	0.73272	2.708000	0.92522	0.650000	0.86243	CGA	FBXO39	-	NULL		0.522	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO39	HGNC	protein_coding	OTTHUMT00000219866.2	G	NM_153230		6684086	+1	no_errors	ENST00000321535	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXO45	200933	genome.wustl.edu	37	3	196311048	196311048	+	Silent	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:196311048T>A	ENST00000311630.6	+	3	1017	c.720T>A	c.(718-720)acT>acA	p.T240T	FBXO45_ENST00000440469.1_Silent_p.T61T	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	240	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AAGATAAGACTTTAGCTTTTG	0.418																																																	0													137.0	131.0	133.0					3																	196311048		1840	4088	5928	SO:0001819	synonymous_variant	200933			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.720T>A	3.37:g.196311048T>A			A6NF90|D3DXB5	Silent	SNP	pfam_SPRY_rcpt,pfam_F-box_dom_cyclin-like,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom_cyclin-like	p.T240	ENST00000311630.6	37	c.720	CCDS46985.1	3																																																																																			FBXO45	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.418	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO45	HGNC	protein_coding	OTTHUMT00000340687.2	T			196311048	+1	no_errors	ENST00000311630	ensembl	human	known	70_37	silent	SNP	0.998	A
FBXO46	23403	genome.wustl.edu	37	19	46216665	46216665	+	Missense_Mutation	SNP	G	G	A	rs372194078		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:46216665G>A	ENST00000317683.3	-	2	222	c.89C>T	c.(88-90)gCg>gTg	p.A30V		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	30										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTTGAGGGCCGCAGAAGGCGG	0.677																																																	0								G	VAL/ALA	0,3948		0,0,1974	22.0	27.0	26.0		89	0.1	0.0	19		26	1,8305		0,1,4152	no	missense	FBXO46	NM_001080469.1	64	0,1,6126	AA,AG,GG		0.012,0.0,0.0082	benign	30/604	46216665	1,12253	1974	4153	6127	SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.89C>T	19.37:g.46216665G>A	ENSP00000410007:p.Ala30Val			Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.A30V	ENST00000317683.3	37	c.89	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	G	2.717	-0.267433	0.05754	0.0	1.2E-4	ENSG00000177051	ENST00000317683	.	.	.	3.8	0.0862	0.14445	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19063	-1.0317	8	0.44086	T	0.13	-3.4111	2.3112	0.04186	0.1003:0.1643:0.3994:0.336	.	30	Q6PJ61	FBX46_HUMAN	V	30	.	ENSP00000410007:A30V	A	-	2	0	FBXO46	50908505	0.319000	0.24607	0.000000	0.03702	0.033000	0.12548	2.142000	0.42177	0.026000	0.15269	-0.321000	0.08615	GCG	FBXO46	-	NULL		0.677	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	G	XM_371179		46216665	-1	no_errors	ENST00000317683	ensembl	human	known	70_37	missense	SNP	0.000	A
FBXO5	26271	genome.wustl.edu	37	6	153293413	153293413	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:153293413G>T	ENST00000229758.3	-	4	1144	c.1086C>A	c.(1084-1086)ttC>ttA	p.F362L	FBXO5_ENST00000367241.3_Missense_Mutation_p.F316L|FBXO5_ENST00000477822.1_5'UTR	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	362					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		TTACCTCAGAGAATTCATTGT	0.323																																					NSCLC(121;372 1757 17721 17977 29669)												0													77.0	77.0	77.0					6																	153293413		2203	4300	6503	SO:0001583	missense	26271			AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.1086C>A	6.37:g.153293413G>T	ENSP00000229758:p.Phe362Leu		B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like	p.F362L	ENST00000229758.3	37	c.1086	CCDS5242.1	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979539	0.74360	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.48201	0.82;0.86	5.75	2.63	0.31362	.	0.050695	0.85682	D	0.000000	T	0.52500	0.1738	M	0.75264	2.295	0.43107	D	0.994809	D	0.76494	0.999	D	0.80764	0.994	T	0.56220	-0.8015	10	0.62326	D	0.03	-17.872	7.1757	0.25742	0.4826:0.0:0.5174:0.0	.	362	Q9UKT4	FBX5_HUMAN	L	362;316	ENSP00000229758:F362L;ENSP00000356210:F316L	ENSP00000229758:F362L	F	-	3	2	FBXO5	153335106	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.401000	0.44513	0.774000	0.33427	0.655000	0.94253	TTC	FBXO5	-	NULL		0.323	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO5	HGNC	protein_coding	OTTHUMT00000042757.1	G			153293413	-1	no_errors	ENST00000229758	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXO5	26271	genome.wustl.edu	37	6	153296192	153296192	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:153296192A>C	ENST00000229758.3	-	2	726	c.668T>G	c.(667-669)aTt>aGt	p.I223S	FBXO5_ENST00000367241.3_Missense_Mutation_p.I177S|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	223	Interaction with EVI5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		TCTGGCTATAATTTCCTTCAG	0.373																																					NSCLC(121;372 1757 17721 17977 29669)												0													88.0	92.0	91.0					6																	153296192		2203	4300	6503	SO:0001583	missense	26271			AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.668T>G	6.37:g.153296192A>C	ENSP00000229758:p.Ile223Ser		B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like	p.I223S	ENST00000229758.3	37	c.668	CCDS5242.1	6	.	.	.	.	.	.	.	.	.	.	A	4.265	0.048277	0.08243	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.49432	0.78;0.78	5.92	2.03	0.26663	.	1.072030	0.07176	N	0.853231	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B	0.31125	0.309	B	0.22386	0.039	T	0.28586	-1.0039	10	0.72032	D	0.01	-0.5413	2.9952	0.05996	0.6347:0.1139:0.128:0.1233	.	223	Q9UKT4	FBX5_HUMAN	S	223;177	ENSP00000229758:I223S;ENSP00000356210:I177S	ENSP00000229758:I223S	I	-	2	0	FBXO5	153337885	0.628000	0.27138	0.023000	0.16930	0.030000	0.12068	2.440000	0.44855	0.093000	0.17368	-0.256000	0.11100	ATT	FBXO5	-	NULL		0.373	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO5	HGNC	protein_coding	OTTHUMT00000042757.1	A			153296192	-1	no_errors	ENST00000229758	ensembl	human	known	70_37	missense	SNP	0.031	C
FBXW11	23291	genome.wustl.edu	37	5	171305107	171305107	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:171305107A>C	ENST00000265094.5	-	7	953	c.816T>G	c.(814-816)tgT>tgG	p.C272W	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.C259W|FBXW11_ENST00000425623.2_Missense_Mutation_p.C240W|FBXW11_ENST00000393802.2_Missense_Mutation_p.C238W	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	272					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACACTTTCAAACATTCCAGGC	0.403																																																	0													94.0	85.0	88.0					5																	171305107		2203	4300	6503	SO:0001583	missense	23291			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.816T>G	5.37:g.171305107A>C	ENSP00000265094:p.Cys272Trp		B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.C272W	ENST00000265094.5	37	c.816	CCDS34289.1	5	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743161	0.69418	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	H	0.94771	3.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.995;0.992	D	0.86287	0.1671	10	0.87932	D	0	-15.8413	9.6067	0.39637	0.9209:0.0:0.0791:0.0	.	240;238;272;259	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	W	259;272;238;240	ENSP00000296933:C259W;ENSP00000265094:C272W;ENSP00000377391:C238W;ENSP00000444929:C240W	ENSP00000265094:C272W	C	-	3	2	FBXW11	171237712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.602000	0.61098	2.100000	0.63781	0.472000	0.43445	TGT	FBXW11	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.403	FBXW11-002	KNOWN	basic|CCDS	protein_coding	FBXW11	HGNC	protein_coding	OTTHUMT00000372382.1	A	NM_012300		171305107	-1	no_errors	ENST00000265094	ensembl	human	known	70_37	missense	SNP	1.000	C
FCGBP	8857	genome.wustl.edu	37	19	40433110	40433110	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:40433110G>T	ENST00000221347.6	-	2	1166	c.1159C>A	c.(1159-1161)Cca>Aca	p.P387T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	387	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCACTGCCTGGCACAGCCTCC	0.622																																																	0													116.0	87.0	97.0					19																	40433110		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1159C>A	19.37:g.40433110G>T	ENSP00000221347:p.Pro387Thr		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.P387T	ENST00000221347.6	37	c.1159	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190723	0.38707	.	.	ENSG00000090920	ENST00000221347	T	0.19806	2.12	4.36	3.32	0.38043	.	0.286327	0.26995	N	0.021441	T	0.16938	0.0407	L	0.38175	1.15	0.21861	N	0.999507	P	0.43094	0.799	B	0.38562	0.276	T	0.11227	-1.0596	10	0.72032	D	0.01	.	11.8949	0.52652	0.0884:0.0:0.9116:0.0	.	387	Q9Y6R7	FCGBP_HUMAN	T	387	ENSP00000221347:P387T	ENSP00000221347:P387T	P	-	1	0	FCGBP	45124950	0.999000	0.42202	0.443000	0.26883	0.495000	0.33615	3.793000	0.55484	1.426000	0.47256	0.655000	0.94253	CCA	FCGBP	-	NULL		0.622	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40433110	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.798	T
FCGR2A	2212	genome.wustl.edu	37	1	161487972	161487972	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:161487972G>T	ENST00000271450.6	+	0	1026				FCGR2A_ENST00000486608.1_3'UTR|FCGR2A_ENST00000367972.4_3'UTR|RP11-25K21.6_ENST00000537821.2_RNA	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATACTCTCAGCTTGCTGAGT	0.398																																																	0													75.0	72.0	73.0					1																	161487972		2202	4300	6502	SO:0001624	3_prime_UTR_variant	2212			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.*34G>T	1.37:g.161487972G>T			Q8WUN1|Q8WW64	RNA	SNP	-	NULL	ENST00000271450.6	37	NULL	CCDS44264.1	1																																																																																			FCGR2A	-	-		0.398	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	G	NM_021642		161487972	+1	no_errors	ENST00000471026	ensembl	human	known	70_37	rna	SNP	0.162	T
FCHSD1	89848	genome.wustl.edu	37	5	141021033	141021033	+	3'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:141021033A>C	ENST00000435817.2	-	0	2155				FCHSD1_ENST00000522783.1_3'UTR|FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1										FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGGACAGCAGCATCACTGG	0.592																																																	0													26.0	32.0	30.0					5																	141021033		2055	4193	6248	SO:0001624	3_prime_UTR_variant	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.*32T>G	5.37:g.141021033A>C			Q6UX75|Q86Y77|Q9NXX8	RNA	SNP	-	NULL	ENST00000435817.2	37	NULL	CCDS47295.1	5																																																																																			FCHSD1	-	-		0.592	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	A	NM_033449		141021033	-1	no_errors	ENST00000518160	ensembl	human	known	70_37	rna	SNP	1.000	C
FCHSD1	89848	genome.wustl.edu	37	5	141024239	141024239	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:141024239C>T	ENST00000435817.2	-	16	1593	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	FCHSD1_ENST00000522783.1_Missense_Mutation_p.E441K|FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	515	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCTACCTCGCCGTGCTGG	0.572																																																	0													62.0	66.0	65.0					5																	141024239		2009	4172	6181	SO:0001583	missense	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1543G>A	5.37:g.141024239C>T	ENSP00000399259:p.Glu515Lys		Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.E515K	ENST00000435817.2	37	c.1543	CCDS47295.1	5	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382142	0.61845	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000518499	T;T;T	0.42513	0.97;0.97;0.97	5.56	2.52	0.30459	Src homology-3 domain (4);	0.225043	0.35096	N	0.003454	T	0.22859	0.0552	N	0.11789	0.175	0.80722	D	1	P;B	0.42757	0.789;0.305	B;B	0.31337	0.128;0.069	T	0.10497	-1.0627	10	0.54805	T	0.06	-4.6682	16.3189	0.82938	0.0:0.3716:0.6284:0.0	.	195;515	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	K	515;441;198	ENSP00000399259:E515K;ENSP00000428677:E441K;ENSP00000430448:E198K	ENSP00000399259:E515K	E	-	1	0	FCHSD1	141004423	0.999000	0.42202	0.607000	0.28956	0.930000	0.56654	3.312000	0.51927	0.660000	0.30964	0.551000	0.68910	GAG	FCHSD1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.572	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	C	NM_033449		141024239	-1	no_errors	ENST00000435817	ensembl	human	known	70_37	missense	SNP	0.965	T
FEM1B	10116	genome.wustl.edu	37	15	68583077	68583077	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:68583077G>A	ENST00000306917.4	+	2	1996	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	461					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)	p.E461delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ACAGTGCAGCGAAGAAGATCA	0.403																																																	1	Deletion - In frame(1)	ovary(1)											143.0	130.0	134.0					15																	68583077		2200	4298	6498	SO:0001583	missense	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1381G>A	15.37:g.68583077G>A	ENSP00000307298:p.Glu461Lys		O43146	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.E461K	ENST00000306917.4	37	c.1381	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537717	0.65085	.	.	ENSG00000169018	ENST00000306917	T	0.45668	0.89	5.95	5.95	0.96441	.	0.088882	0.85682	D	0.000000	T	0.34513	0.0900	L	0.47716	1.5	0.80722	D	1	P	0.42556	0.783	B	0.31686	0.134	T	0.12630	-1.0540	10	0.19590	T	0.45	-10.9522	19.36	0.94432	0.0:0.0:1.0:0.0	.	461	Q9UK73	FEM1B_HUMAN	K	461	ENSP00000307298:E461K	ENSP00000307298:E461K	E	+	1	0	FEM1B	66370131	1.000000	0.71417	0.957000	0.39632	0.847000	0.48162	7.989000	0.88205	2.826000	0.97356	0.491000	0.48974	GAA	FEM1B	-	NULL		0.403	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	G			68583077	+1	no_errors	ENST00000306917	ensembl	human	known	70_37	missense	SNP	1.000	A
FER	2241	genome.wustl.edu	37	5	108281858	108281858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:108281858G>T	ENST00000281092.4	+	11	1648	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	FER_ENST00000536402.1_Missense_Mutation_p.L317F|FER_ENST00000438717.2_Nonsense_Mutation_p.E247*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	422					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)		ATCCAAATTTGAATCTATTCG	0.373																																					Colon(146;1051 1799 9836 27344 47401)												0													125.0	131.0	129.0					5																	108281858		2202	4300	6502	SO:0001587	stop_gained	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.1264G>T	5.37:g.108281858G>T	ENSP00000281092:p.Glu422*		B2RCR4|B4DSQ2|H2FLB8	Nonsense_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.E422*	ENST00000281092.4	37	c.1264	CCDS4098.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.644068|8.644068	0.98897|0.98897	.|.	.|.	ENSG00000151422|ENSG00000151422	ENST00000281092;ENST00000438717|ENST00000536402	.|T	.|0.26957	.|1.7	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.042749|.	0.85682|.	D|.	0.000000|.	.|T	.|0.51415	.|0.1673	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51474	.|-0.8701	.|5	0.40728|0.62326	T|D	0.16|0.03	-20.9934|-20.9934	19.6346|19.6346	0.95724|0.95724	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	422;247|317	.|ENSP00000442627:L317F	ENSP00000281092:E422X|ENSP00000442627:L317F	E|L	+|+	1|3	0|2	FER|FER	108309757|108309757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.726000|8.726000	0.91474|0.91474	2.720000|2.720000	0.93068|0.93068	0.491000|0.491000	0.48974|0.48974	GAA|TTG	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr		0.373	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	G	NM_005246		108281858	+1	no_errors	ENST00000281092	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FERD3L	222894	genome.wustl.edu	37	7	19184566	19184566	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:19184566G>A	ENST00000275461.3	-	1	478	c.420C>T	c.(418-420)atC>atT	p.I140I	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	140	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGAGGGTCTCGATCCGGGACA	0.567																																																	0													115.0	86.0	96.0					7																	19184566		2203	4300	6503	SO:0001819	synonymous_variant	222894			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.420C>T	7.37:g.19184566G>A			Q495K0	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.I140	ENST00000275461.3	37	c.420	CCDS5368.1	7																																																																																			FERD3L	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.567	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	G			19184566	-1	no_errors	ENST00000275461	ensembl	human	known	70_37	silent	SNP	1.000	A
FERMT2	10979	genome.wustl.edu	37	14	53341944	53341944	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:53341944A>C	ENST00000395631.2	-	8	1311	c.1095T>G	c.(1093-1095)atT>atG	p.I365M	FERMT2_ENST00000553373.1_Missense_Mutation_p.I365M|FERMT2_ENST00000343279.4_Missense_Mutation_p.I365M|FERMT2_ENST00000399304.3_Missense_Mutation_p.I365M|FERMT2_ENST00000341590.3_Missense_Mutation_p.I365M			Q96AC1	FERM2_HUMAN	fermitin family member 2	365	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					ACCCTACCAAAATTGTTGACG	0.388																																																	0													101.0	93.0	96.0					14																	53341944		2203	4300	6503	SO:0001583	missense	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1095T>G	14.37:g.53341944A>C	ENSP00000378993:p.Ile365Met		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I365M	ENST00000395631.2	37	c.1095	CCDS9713.1	14	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132436	0.37630	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304	T;T;T;T;T;T	0.43294	0.95;0.95;0.97;0.96;0.96;0.96	5.52	3.09	0.35607	Band 4.1 domain (1);FERM central domain (2);	0.149334	0.64402	D	0.000012	T	0.41858	0.1177	N	0.21142	0.635	0.50813	D	0.999891	B;B;B	0.32893	0.338;0.389;0.389	P;P;P	0.50896	0.521;0.653;0.653	T	0.23868	-1.0176	10	0.30078	T	0.28	.	9.8871	0.41268	0.797:0.0:0.203:0.0	.	365;365;365	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	M	365;365;318;365;365;365	ENSP00000378993:I365M;ENSP00000340391:I365M;ENSP00000450741:I318M;ENSP00000342858:I365M;ENSP00000451084:I365M;ENSP00000382243:I365M	ENSP00000340391:I365M	I	-	3	3	FERMT2	52411694	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	1.317000	0.33631	0.437000	0.26423	0.533000	0.62120	ATT	FERMT2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain		0.388	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	A	NM_006832		53341944	-1	no_errors	ENST00000343279	ensembl	human	known	70_37	missense	SNP	1.000	C
FES	2242	genome.wustl.edu	37	15	91428562	91428562	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:91428562G>A	ENST00000328850.3	+	2	355				FES_ENST00000394302.1_Intron|FES_ENST00000394300.3_Intron|FES_ENST00000444422.2_Intron|FES_ENST00000450438.2_Intron|FES_ENST00000414248.2_Intron	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase						axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCCCTCTGGGGCAGTGGCTGG	0.622																																																	0																																										SO:0001627	intron_variant	2242			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.213+74G>A	15.37:g.91428562G>A			B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	pfam_FCH,smart_FCH,pfscan_FCH	p.G96D	ENST00000328850.3	37	c.287	CCDS10365.1	15																																																																																			FES	-	NULL		0.622	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FES	HGNC	protein_coding	OTTHUMT00000313497.1	G	NM_002005		91428562	+1	no_errors	ENST00000470152	ensembl	human	known	70_37	missense	SNP	0.001	A
FHAD1	114827	genome.wustl.edu	37	1	15687066	15687066	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:15687066G>T	ENST00000375998.4	+	20	2763	c.2763G>T	c.(2761-2763)gaG>gaT	p.E921D	FHAD1_ENST00000375999.3_Missense_Mutation_p.E921D|FHAD1_ENST00000314740.8_Missense_Mutation_p.E174D|FHAD1_ENST00000417793.1_Missense_Mutation_p.E885D|FHAD1_ENST00000358897.4_Missense_Mutation_p.E921D|FHAD1_ENST00000471347.1_3'UTR			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	921										skin(1)|stomach(1)	2						TTGAAGAAGAGATCATGGAAT	0.463																																																	0													122.0	112.0	115.0					1																	15687066		692	1591	2283	SO:0001583	missense	114827			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.2763G>T	1.37:g.15687066G>T	ENSP00000365166:p.Glu921Asp		Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E921D	ENST00000375998.4	37	c.2763		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.31|17.31	3.356497|3.356497	0.61293|0.61293	.|.	.|.	ENSG00000142621|ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668|ENST00000444385	T;T;T;T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95;2.28;2.28;2.28|.	5.35|5.35	-2.81|-2.81	0.05805|0.05805	.|.	.|.	.|.	.|.	.|.	T|T	0.52158|0.52158	0.1717|0.1717	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	D;P;P|.	0.55385|.	0.971;0.93;0.952|.	P;P;P|.	0.54372|.	0.554;0.75;0.53|.	T|T	0.54403|0.54403	-0.8299|-0.8299	9|5	0.39692|.	T|.	0.17|.	.|.	10.94|10.94	0.47268|0.47268	0.5072:0.0:0.4928:0.0|0.5072:0.0:0.4928:0.0	.|.	174;921;921|.	B7WPP2;B1AJZ9-3;B1AJZ9|.	.;.;FHAD1_HUMAN|.	D|I	921;885;921;921;192;174;156|240	ENSP00000351770:E921D;ENSP00000407615:E885D;ENSP00000365167:E921D;ENSP00000365166:E921D;ENSP00000434909:E192D;ENSP00000322979:E174D;ENSP00000318812:E156D|.	ENSP00000318812:E156D|.	E|R	+|+	3|2	2|0	FHAD1|FHAD1	15559653|15559653	0.523000|0.523000	0.26274|0.26274	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	-0.149000|-0.149000	0.10204|0.10204	-0.474000|-0.474000	0.06862|0.06862	-0.251000|-0.251000	0.11542|0.11542	GAG|AGA	FHAD1	-	NULL		0.463	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	G	NM_052929		15687066	+1	no_errors	ENST00000375999	ensembl	human	known	70_37	missense	SNP	0.007	T
FHOD1	29109	genome.wustl.edu	37	16	67268080	67268080	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67268080C>T	ENST00000258201.4	-	13	1773	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	509	FH1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGCAAGGCTTCGCTGGGCCCG	0.642																																																	0													50.0	56.0	54.0					16																	67268080		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1526G>A	16.37:g.67268080C>T	ENSP00000258201:p.Arg509Gln		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.R509Q	ENST00000258201.4	37	c.1526	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	C	1.381	-0.583386	0.03827	.	.	ENSG00000135723	ENST00000258201	T	0.36157	1.27	5.32	-5.64	0.02466	.	2.005710	0.01980	N	0.044711	T	0.21427	0.0516	N	0.24115	0.695	0.09310	N	1	B;B	0.15719	0.014;0.0	B;B	0.06405	0.002;0.0	T	0.15694	-1.0428	10	0.13470	T	0.59	.	8.3462	0.32275	0.1158:0.2183:0.0:0.6659	.	88;509	B4DVN5;Q9Y613	.;FHOD1_HUMAN	Q	509	ENSP00000258201:R509Q	ENSP00000258201:R509Q	R	-	2	0	FHOD1	65825581	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	-2.585000	0.00903	-1.211000	0.02624	-0.215000	0.12644	CGA	FHOD1	-	NULL		0.642	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	C			67268080	-1	no_errors	ENST00000258201	ensembl	human	known	70_37	missense	SNP	0.001	T
FILIP1L	11259	genome.wustl.edu	37	3	99567248	99567248	+	Missense_Mutation	SNP	C	C	T	rs377075355		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:99567248C>T	ENST00000354552.3	-	5	3742	c.3272G>A	c.(3271-3273)cGa>cAa	p.R1091Q	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R851Q|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R851Q|FILIP1L_ENST00000487087.1_Missense_Mutation_p.R667Q|FILIP1L_ENST00000331335.5_Missense_Mutation_p.R1091Q	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1091						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GCCTTGAGTTCGGTTATCCTG	0.463																																																	0								C	GLN/ARG,GLN/ARG,,GLN/ARG	0,4058		0,0,2029	281.0	282.0	282.0		3272,2552,,3272	5.8	1.0	3		282	2,8372		0,2,4185	no	missense,missense,intron,missense	FILIP1L,C3orf26	NM_001042459.1,NM_014890.2,NM_032359.3,NM_182909.2	43,43,,43	0,2,6214	TT,TC,CC		0.0239,0.0,0.0161	possibly-damaging,possibly-damaging,,possibly-damaging	1091/1134,851/894,,1091/1136	99567248	2,12430	2029	4187	6216	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.3272G>A	3.37:g.99567248C>T	ENSP00000346560:p.Arg1091Gln		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.R1091Q	ENST00000354552.3	37	c.3272	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357367	0.61293	0.0	2.39E-4	ENSG00000168386	ENST00000477258;ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620	T;T;T;T;T	0.23950	2.2;1.88;1.88;2.2;1.88	5.79	5.79	0.91817	.	0.000000	0.43110	D	0.000602	T	0.33089	0.0851	N	0.08118	0	0.50467	D	0.999877	D;D	0.89917	1.0;1.0	P;D	0.79108	0.883;0.992	T	0.31916	-0.9926	10	0.30854	T	0.27	-12.9685	20.0313	0.97540	0.0:1.0:0.0:0.0	.	1091;1091	Q4L180-2;Q4L180	.;FIL1L_HUMAN	Q	70;1091;667;851;1091;851;837	ENSP00000346560:R1091Q;ENSP00000417774:R667Q;ENSP00000419642:R851Q;ENSP00000327880:R1091Q;ENSP00000373192:R851Q	ENSP00000327880:R1091Q	R	-	2	0	FILIP1L	101049938	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.865000	0.62998	2.746000	0.94184	0.655000	0.94253	CGA	FILIP1L	-	NULL		0.463	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	C	NM_014890		99567248	-1	no_errors	ENST00000354552	ensembl	human	known	70_37	missense	SNP	1.000	T
FKBP15	23307	genome.wustl.edu	37	9	115950806	115950806	+	Intron	SNP	C	C	T	rs373594534		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:115950806C>T	ENST00000238256.3	-	13	1291					NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa						endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTACTCTGTACGGGGTCCCTC	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18746	0.0		0.0	False		,,,				2504	0.0																0								C		1,3993		0,1,1996	27.0	29.0	28.0			-3.1	0.0	9		28	0,8330		0,0,4165	no	intron	FKBP15	NM_015258.1		0,1,6161	TT,TC,CC		0.0,0.025,0.0081			115950806	1,12323	1997	4165	6162	SO:0001627	intron_variant	23307			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1174-35G>A	9.37:g.115950806C>T			Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	RNA	SNP	-	NULL	ENST00000238256.3	37	NULL	CCDS48007.1	9																																																																																			FKBP15	-	-		0.532	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		C	NM_015258		115950806	-1	no_errors	ENST00000489645	ensembl	human	known	70_37	rna	SNP	0.000	T
FKBP1A	2280	genome.wustl.edu	37	20	1350326	1350326	+	3'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:1350326A>C	ENST00000400137.4	-	0	917				FKBP1A_ENST00000381724.3_3'UTR|FKBP1A_ENST00000460490.1_5'UTR|SDCBP2-AS1_ENST00000446423.1_RNA|SDCBP2-AS1_ENST00000609285.1_RNA|SDCBP2-AS1_ENST00000609470.1_RNA	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa						'de novo' protein folding (GO:0006458)|amyloid fibril formation (GO:1990000)|calcium ion transmembrane transport (GO:0070588)|chaperone-mediated protein folding (GO:0061077)|extracellular fibril organization (GO:0043206)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of amyloid precursor protein catabolic process (GO:1902991)|regulation of immune response (GO:0050776)|regulation of protein localization (GO:0032880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|SMAD protein complex assembly (GO:0007183)|T cell activation (GO:0042110)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|terminal cisterna (GO:0014802)|Z disc (GO:0030018)	activin binding (GO:0048185)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|macrolide binding (GO:0005527)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|type I transforming growth factor beta receptor binding (GO:0034713)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	ataatagataaaaatttcatc	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	2280			M92423	CCDS13014.1, CCDS74688.1	20p13	2013-03-20	2002-08-29		ENSG00000088832	ENSG00000088832			3711	protein-coding gene	gene with protein product	"""calstabin 1"""	186945	"""FK506-binding protein 1A (12kD)"""	FKBP1		1930186	Standard	NM_000801		Approved	FKBP-12, FKBP12, PKC12, PPIASE, FKBP12C	uc002wey.3	P62942	OTTHUMG00000031666	ENST00000400137.4:c.*427T>G	20.37:g.1350326A>C			D3DVW6|P20071|Q4VC47|Q6FGD9|Q6LEU3|Q9H103|Q9H566	RNA	SNP	-	NULL	ENST00000400137.4	37	NULL	CCDS13014.1	20																																																																																			FKBP1A	-	-		0.368	FKBP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP1A	HGNC	protein_coding	OTTHUMT00000077534.2	A			1350326	-1	no_errors	ENST00000460490	ensembl	human	known	70_37	rna	SNP	1.000	C
FLG2	388698	genome.wustl.edu	37	1	152326402	152326402	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:152326402C>T	ENST00000388718.5	-	3	3932	c.3860G>A	c.(3859-3861)aGa>aAa	p.R1287K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1287	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGAATGTCTGTGTGAGAC	0.473																																																	0													442.0	395.0	411.0					1																	152326402		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3860G>A	1.37:g.152326402C>T	ENSP00000373370:p.Arg1287Lys		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R1287K	ENST00000388718.5	37	c.3860	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782149	0.31502	.	.	ENSG00000143520	ENST00000388718	T	0.08546	3.08	3.26	-0.0873	0.13677	.	.	.	.	.	T	0.01730	0.0055	L	0.49126	1.545	0.09310	N	1	B	0.24576	0.106	B	0.28232	0.087	T	0.48352	-0.9043	9	0.05833	T	0.94	-1.9022	5.6544	0.17635	0.0:0.4641:0.4133:0.1227	.	1287	Q5D862	FILA2_HUMAN	K	1287	ENSP00000373370:R1287K	ENSP00000373370:R1287K	R	-	2	0	FLG2	150593026	0.003000	0.15002	0.001000	0.08648	0.324000	0.28378	0.394000	0.20834	-0.113000	0.11958	0.196000	0.17591	AGA	FLG2	-	NULL		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		152326402	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.003	T
FLG2	388698	genome.wustl.edu	37	1	152328935	152328935	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:152328935C>T	ENST00000388718.5	-	3	1399	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	443	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACATGTTGTTCGAACCCAGAG	0.448																																																	0													168.0	160.0	163.0					1																	152328935		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1327G>A	1.37:g.152328935C>T	ENSP00000373370:p.Glu443Lys		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E443K	ENST00000388718.5	37	c.1327	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	1.393	-0.580373	0.03854	.	.	ENSG00000143520	ENST00000388718	T	0.22134	1.97	2.88	-4.05	0.03998	.	.	.	.	.	T	0.01387	0.0045	N	0.04508	-0.205	0.09310	N	1	B	0.23058	0.079	B	0.06405	0.002	T	0.42832	-0.9428	9	0.06757	T	0.87	.	4.202	0.10471	0.0:0.2999:0.3321:0.368	.	443	Q5D862	FILA2_HUMAN	K	443	ENSP00000373370:E443K	ENSP00000373370:E443K	E	-	1	0	FLG2	150595559	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.008000	0.03663	-0.922000	0.03789	0.561000	0.74099	GAA	FLG2	-	NULL		0.448	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		152328935	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.000	T
RGMB	285704	genome.wustl.edu	37	5	98106447	98106447	+	5'Flank	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:98106447C>A	ENST00000513185.1	+	0	0				RGMB-AS1_ENST00000505362.1_RNA|RGMB-AS1_ENST00000505677.1_RNA|RGMB-AS1_ENST00000515003.1_RNA|RGMB-AS1_ENST00000498871.2_RNA|RGMB_ENST00000308234.7_Intron|RGMB-AS1_ENST00000501938.2_RNA|RGMB_ENST00000504776.1_Intron			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b						axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		tccttattttctctcctttcc	0.418																																																	0													19.0	22.0	21.0					5																	98106447		692	1591	2283	SO:0001631	upstream_gene_variant	0			AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745		5.37:g.98106447C>A	Exception_encountered		D6R9A0|Q8NC92	RNA	SNP	-	NULL	ENST00000513185.1	37	NULL		5																																																																																			CTC-463N11.3	-	-		0.418	RGMB-003	KNOWN	basic	protein_coding	FLJ35946	Clone_based_vega_gene	protein_coding	OTTHUMT00000370308.1	C	NM_173670		98106447	-1	no_errors	ENST00000498871	ensembl	human	known	70_37	rna	SNP	0.003	A
FLJ36000	284124	genome.wustl.edu	37	17	21911084	21911084	+	lincRNA	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:21911084C>T	ENST00000581223.2	+	0	1809					NR_027084.1																						ggacggtgttcgggtgagtct	0.627																																																	0																																												284124																															17.37:g.21911084C>T				RNA	SNP	-	NULL	ENST00000581223.2	37	NULL		17																																																																																			RP11-744K17.9	-	-		0.627	RP11-744K17.9-001	KNOWN	basic	lincRNA	FLJ36000	Clone_based_vega_gene	lincRNA	OTTHUMT00000451067.1	C			21911084	+1	no_errors	ENST00000581223	ensembl	human	known	70_37	rna	SNP	0.145	T
PIEZO1	9780	genome.wustl.edu	37	16	88809355	88809355	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:88809355G>T	ENST00000301015.9	-	3	407				RP5-1142A6.7_ENST00000566114.1_RNA|RP5-1142A6.8_ENST00000333666.1_RNA|RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.8_ENST00000567588.1_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						GCTGCAAGGAGAAGTTGCATC	0.657																																																	0																																										SO:0001627	intron_variant	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.161-525C>A	16.37:g.88809355G>T			A6NHT9|A7E2B7|Q0KKZ9	RNA	SNP	-	NULL	ENST00000301015.9	37	NULL	CCDS54058.1	16																																																																																			RP5-1142A6.8	-	-		0.657	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	FLJ40448	Clone_based_vega_gene	protein_coding	OTTHUMT00000345699.4	G	NM_014745		88809355	+1	no_errors	ENST00000333666	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00951	401260	genome.wustl.edu	37	6	40312275	40312275	+	lincRNA	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:40312275G>A	ENST00000373171.2	-	0	361				TDRG1_ENST00000451810.1_RNA|TDRG1_ENST00000448559.1_RNA	NR_038887.1				long intergenic non-protein coding RNA 951																		cagctgccccgaattcaggaa	0.557																																																	0																																												401260			AK123643, BC132805		6p21.2	2013-07-23			ENSG00000204092	ENSG00000204092		"""Long non-coding RNAs"""	48662	non-coding RNA	RNA, long non-coding						23872665	Standard	NR_038887		Approved	lincRNA-uc003opf.1, FLJ41649			OTTHUMG00000014658		6.37:g.40312275G>A				RNA	SNP	-	NULL	ENST00000373171.2	37	NULL		6																																																																																			RP11-552E20.3	-	-		0.557	LINC00951-001	KNOWN	basic|exp_conf	lincRNA	FLJ41649	Clone_based_vega_gene	lincRNA	OTTHUMT00000040481.1	G			40312275	-1	no_errors	ENST00000373171	ensembl	human	known	70_37	rna	SNP	0.000	A
LINC00982	440556	genome.wustl.edu	37	1	2979414	2979414	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:2979414C>A	ENST00000445317.1	-	0	2224				LINC00982_ENST00000413472.1_RNA|LINC00982_ENST00000453118.1_RNA|LINC00982_ENST00000321399.3_RNA|LINC00982_ENST00000415573.1_RNA|LINC00982_ENST00000321336.1_RNA|LINC00982_ENST00000606861.1_RNA	NR_015440.1				long intergenic non-protein coding RNA 982																		CCGCGAGGTTCGTTGTACCTA	0.711																																																	0																																												440556					1p36.32	2013-07-05			ENSG00000177133	ENSG00000177133		"""Long non-coding RNAs"""	48664	non-coding RNA	RNA, long non-coding						23801869	Standard	NR_015440		Approved	FLJ42875			OTTHUMG00000000563		1.37:g.2979414C>A				RNA	SNP	-	NULL	ENST00000445317.1	37	NULL		1																																																																																			RP1-163G9.1	-	-		0.711	LINC00982-002	KNOWN	basic	antisense	FLJ42875	Clone_based_vega_gene	antisense	OTTHUMT00000001333.1	C			2979414	-1	no_errors	ENST00000321399	ensembl	human	known	70_37	rna	SNP	0.000	A
LINC01567	400511	genome.wustl.edu	37	16	24675235	24675235	+	lincRNA	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:24675235C>T	ENST00000414816.1	-	0	414																											tattttaagccgttagcagtt	0.488																																																	0																																												0																															16.37:g.24675235C>T				RNA	SNP	-	NULL	ENST00000414816.1	37	NULL		16																																																																																			AC012317.1	-	-		0.488	AC012317.1-001	KNOWN	basic	lincRNA	FLJ45256	Clone_based_vega_gene	lincRNA	OTTHUMT00000254547.2	C			24675235	-1	no_errors	ENST00000414816	ensembl	human	known	70_37	rna	SNP	0.000	T
FLNA	2316	genome.wustl.edu	37	X	153580009	153580009	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:153580009G>A	ENST00000369850.3	-	43	7199	c.6963C>T	c.(6961-6963)ttC>ttT	p.F2321F	FLNA_ENST00000422373.1_Silent_p.F2313F|FLNA_ENST00000369856.3_Silent_p.F454F|FLNA_ENST00000344736.4_Silent_p.F2281F|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Silent_p.F2313F	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2321					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)					CAGGCACCACGAAGGGGCTGT	0.612																																																	0													48.0	53.0	51.0					X																	153580009		2096	4214	6310	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.6963C>T	X.37:g.153580009G>A			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.F2321	ENST00000369850.3	37	c.6963	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153580009	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	silent	SNP	1.000	A
FLRT2	23768	genome.wustl.edu	37	14	86092305	86092305	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:86092305G>T	ENST00000330753.4	+	0	5214					NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGGGTTCACAGAATTATTTGG	0.458																																																	0																																										SO:0001624	3_prime_UTR_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.*2464G>T	14.37:g.86092305G>T			A0AV84|B7ZLP3	RNA	SNP	-	NULL	ENST00000330753.4	37	NULL	CCDS9877.1	14																																																																																			FLRT2	-	-		0.458	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	G			86092305	+1	no_errors	ENST00000553650	ensembl	human	putative	70_37	rna	SNP	0.027	T
FLT4	2324	genome.wustl.edu	37	5	180056320	180056320	+	Nonsense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:180056320A>C	ENST00000261937.6	-	7	1002	c.924T>G	c.(922-924)taT>taG	p.Y308*	FLT4_ENST00000393347.3_Nonsense_Mutation_p.Y308*|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.Y308*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	308	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTGCACACATACGAGCCCA	0.612																																					Colon(97;1075 1466 27033 27547 35871)												0													182.0	155.0	164.0					5																	180056320		2203	4299	6502	SO:0001587	stop_gained	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.924T>G	5.37:g.180056320A>C	ENSP00000261937:p.Tyr308*		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.Y308*	ENST00000261937.6	37	c.924	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	A	18.51	3.640279	0.67244	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	.	.	.	4.91	-8.9	0.00782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7472	0.85475	0.6417:0.0:0.3583:0.0	.	.	.	.	X	308;308;308;118	.	ENSP00000261937:Y308X	Y	-	3	2	FLT4	179988926	0.000000	0.05858	0.003000	0.11579	0.417000	0.31264	-0.650000	0.05378	-1.913000	0.01079	-1.044000	0.02363	TAT	FLT4	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.612	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	A			180056320	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	nonsense	SNP	0.044	C
FMN1	342184	genome.wustl.edu	37	15	33445566	33445566	+	Missense_Mutation	SNP	G	G	A	rs536624797		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:33445566G>A	ENST00000559047.1	-	1	1549	c.1550C>T	c.(1549-1551)aCg>aTg	p.T517M	FMN1_ENST00000561249.1_Missense_Mutation_p.T517M|FMN1_ENST00000320930.7_Missense_Mutation_p.T517M			Q68DA7	FMN1_HUMAN	formin 1	517	Mediates interaction with alpha-catenin. {ECO:0000250}.|Microtubule-binding. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AACAGGTGACGTCTGTTTGTG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18503	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001583	missense	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.1550C>T	15.37:g.33445566G>A	ENSP00000454047:p.Thr517Met		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	NULL	p.T517M	ENST00000559047.1	37	c.1550		15	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.232766	0.00277	.	.	ENSG00000186031	ENST00000320930	.	.	.	5.18	-2.39	0.06602	.	0.886811	0.09677	N	0.770272	T	0.12433	0.0302	N	0.01352	-0.895	0.24836	N	0.992499	B	0.06786	0.001	B	0.06405	0.002	T	0.44937	-0.9295	8	0.02654	T	1	.	9.7473	0.40455	0.7878:0.0:0.0985:0.1137	.	517	C9JFW6	.	M	517	.	ENSP00000325166:T517M	T	-	2	0	AC090098.1	31232858	0.754000	0.28360	0.000000	0.03702	0.004000	0.04260	0.818000	0.27295	-0.623000	0.05618	-0.126000	0.14955	ACG	FMN1	-	NULL		0.577	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	G	NM_001103184		33445566	-1	no_errors	ENST00000320930	ensembl	human	known	70_37	missense	SNP	0.007	A
FMO5	2330	genome.wustl.edu	37	1	146680530	146680530	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:146680530A>G	ENST00000254090.4	-	6	1102	c.714T>C	c.(712-714)tcT>tcC	p.S238S	RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Silent_p.S238S|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000465173.1_5'UTR|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Silent_p.S238S	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	238						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GTGTAAGTCGAGAAGAGAACA	0.428																																																	0													103.0	96.0	98.0					1																	146680530		2203	4300	6503	SO:0001819	synonymous_variant	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.714T>C	1.37:g.146680530A>G			B2RBG1|C9JJD1|Q8IV22	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.S238	ENST00000254090.4	37	c.714	CCDS926.1	1																																																																																			FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_5		0.428	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	A	NM_001461		146680530	-1	no_errors	ENST00000254090	ensembl	human	known	70_37	silent	SNP	0.013	G
FMR1	2332	genome.wustl.edu	37	X	147027159	147027159	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:147027159C>A	ENST00000370475.4	+	16	1865				FMR1_ENST00000439526.2_Intron|FMR1_ENST00000218200.8_Intron|FMR1_ENST00000370471.3_Intron|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000370477.1_Intron|FMR1_ENST00000440235.2_Intron|FMR1_ENST00000370470.1_Intron	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1						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)					TGCCTCTTTTCATCTTAATTG	0.338									Fragile X syndrome																																								0													80.0	70.0	74.0					X																	147027159		2202	4299	6501	SO:0001627	intron_variant	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.1737+23C>A	X.37:g.147027159C>A			A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	RNA	SNP	-	NULL	ENST00000370475.4	37	NULL	CCDS14682.1	X																																																																																			FMR1	-	-		0.338	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	C	NM_002024		147027159	+1	no_errors	ENST00000478848	ensembl	human	known	70_37	rna	SNP	0.000	A
FN1	2335	genome.wustl.edu	37	2	216235148	216235148	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:216235148A>G	ENST00000359671.1	-	40	6714	c.6449T>C	c.(6448-6450)gTt>gCt	p.V2150A	FN1_ENST00000357009.2_Intron|FN1_ENST00000357867.4_Missense_Mutation_p.V1940A|FN1_ENST00000446046.1_Missense_Mutation_p.V2094A|FN1_ENST00000336916.4_Missense_Mutation_p.V2119A|FN1_ENST00000354785.4_Missense_Mutation_p.V2241A|FN1_ENST00000356005.4_Missense_Mutation_p.V2060A|FN1_ENST00000421182.1_Missense_Mutation_p.V2004A|FN1_ENST00000323926.6_Missense_Mutation_p.V2210A|FN1_ENST00000443816.1_Missense_Mutation_p.V2029A|FN1_ENST00000346544.3_Missense_Mutation_p.V2030A|FN1_ENST00000432072.2_Missense_Mutation_p.V2031A|FN1_ENST00000345488.5_Intron			P02751	FINC_HUMAN	fibronectin 1	2150	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGTTCCAGGAACCCTGAACTG	0.488																																																	0													84.0	78.0	80.0					2																	216235148		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6449T>C	2.37:g.216235148A>G	ENSP00000352696:p.Val2150Ala		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.V2241A	ENST00000359671.1	37	c.6722		2	.	.	.	.	.	.	.	.	.	.	A	17.76	3.468300	0.63625	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.095586	0.44285	D	0.000462	T	0.75361	0.3839	M	0.71581	2.175	0.80722	D	1	D;D;P;D;P;D;D;P;D;D;D;D;D	0.71674	0.996;0.979;0.873;0.991;0.873;0.989;0.991;0.925;0.991;0.979;0.989;0.998;0.998	D;D;B;P;B;D;D;P;D;D;D;D;D	0.85130	0.997;0.989;0.34;0.907;0.413;0.989;0.993;0.712;0.993;0.989;0.989;0.995;0.997	T	0.75750	-0.3208	10	0.46703	T	0.11	.	16.4069	0.83677	1.0:0.0:0.0:0.0	.	1910;2030;2031;2210;1940;2060;2094;2119;2151;2004;2029;2241;2150	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	A	2004;2210;2119;1940;2241;2151;2150;2030;2094;2029;2031;2060;867	ENSP00000394423:V2004A;ENSP00000323534:V2210A;ENSP00000338200:V2119A;ENSP00000350534:V1940A;ENSP00000346839:V2241A;ENSP00000352696:V2150A;ENSP00000265312:V2030A;ENSP00000410422:V2094A;ENSP00000415018:V2029A;ENSP00000399538:V2031A;ENSP00000348285:V2060A;ENSP00000416139:V867A	ENSP00000265313:V2151A	V	-	2	0	FN1	215943393	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.576000	0.82467	2.272000	0.75746	0.460000	0.39030	GTT	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.488	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		A	NM_212476		216235148	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	missense	SNP	1.000	G
FOCAD	54914	genome.wustl.edu	37	9	20740313	20740313	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:20740313G>T	ENST00000380249.1	+	7	730	c.366G>T	c.(364-366)aaG>aaT	p.K122N	FOCAD_ENST00000338382.6_Missense_Mutation_p.K122N	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	122						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GTGGGGAAAAGAATATTCAGA	0.294																																																	0													83.0	83.0	83.0					9																	20740313		2203	4298	6501	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.366G>T	9.37:g.20740313G>T	ENSP00000369599:p.Lys122Asn		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.K122N	ENST00000380249.1	37	c.366	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	6.306	0.424648	0.11928	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.23552	1.9;1.9	5.43	2.46	0.29980	Domain of unknown function DUF3730 (1);	0.519679	0.20746	N	0.086458	T	0.12433	0.0302	N	0.12182	0.205	0.19575	N	0.999967	B	0.15141	0.012	B	0.14578	0.011	T	0.19224	-1.0312	10	0.36615	T	0.2	-11.9598	6.3311	0.21270	0.1565:0.0:0.6964:0.1471	.	122	Q5VW36	K1797_HUMAN	N	122	ENSP00000369599:K122N;ENSP00000344307:K122N	ENSP00000344307:K122N	K	+	3	2	KIAA1797	20730313	0.307000	0.24500	0.973000	0.42090	0.181000	0.23173	0.389000	0.20751	0.657000	0.30906	0.561000	0.74099	AAG	FOCAD	-	pfam_DUF3730,superfamily_ARM-type_fold		0.294	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	G	NM_017794		20740313	+1	no_errors	ENST00000338382	ensembl	human	known	70_37	missense	SNP	0.444	T
FOLH1B	219595	genome.wustl.edu	37	11	89392702	89392702	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:89392702C>A	ENST00000532352.1	+	0	528							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACTGTGTTTTCTAGGTTAAAA	0.393																																																	0																																												219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89392702C>A				RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-		0.393	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	C	NM_153696		89392702	+1	no_errors	ENST00000525540	ensembl	human	known	70_37	rna	SNP	0.338	A
FOXJ2	55810	genome.wustl.edu	37	12	8192701	8192701	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:8192701G>T	ENST00000162391.3	+	2	1418	c.273G>T	c.(271-273)gaG>gaT	p.E91D	FOXJ2_ENST00000428177.2_Missense_Mutation_p.E91D	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	91					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCCTCAGCGAGATTTACCGCT	0.498																																																	0													206.0	154.0	172.0					12																	8192701		2203	4300	6503	SO:0001583	missense	55810			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.273G>T	12.37:g.8192701G>T	ENSP00000162391:p.Glu91Asp		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E91D	ENST00000162391.3	37	c.273	CCDS8587.1	12	.	.	.	.	.	.	.	.	.	.	g	17.97	3.518233	0.64634	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95885	-3.84;-3.84	5.14	5.14	0.70334	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.64402	D	0.000002	D	0.91727	0.7384	N	0.17278	0.47	0.58432	D	0.999998	P;P	0.40970	0.573;0.734	B;B	0.43728	0.429;0.391	D	0.91044	0.4873	10	0.28530	T	0.3	.	16.1906	0.81987	0.0:0.0:1.0:0.0	.	91;91	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	D	91	ENSP00000162391:E91D;ENSP00000403411:E91D	ENSP00000162391:E91D	E	+	3	2	FOXJ2	8083968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.585000	0.60977	2.411000	0.81874	0.555000	0.69702	GAG	FOXJ2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.498	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	HGNC	protein_coding	OTTHUMT00000400088.1	G	NM_018416		8192701	+1	no_errors	ENST00000162391	ensembl	human	known	70_37	missense	SNP	1.000	T
FOXQ1	94234	genome.wustl.edu	37	6	1313312	1313312	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:1313312A>C	ENST00000296839.2	+	1	638	c.373A>C	c.(373-375)Atc>Ctc	p.I125L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	125					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CTACTCGTACATCGCGCTCAT	0.721																																																	0													22.0	26.0	25.0					6																	1313312		2180	4257	6437	SO:0001583	missense	94234			AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.373A>C	6.37:g.1313312A>C	ENSP00000296839:p.Ile125Leu		Q9NS06	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.I125L	ENST00000296839.2	37	c.373	CCDS4471.1	6	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609512	0.87258	.	.	ENSG00000164379	ENST00000296839	D	0.95342	-3.68	3.87	2.59	0.31030	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.94105	0.8110	M	0.71296	2.17	0.45318	D	0.998313	P	0.39883	0.693	P	0.54815	0.761	D	0.94155	0.7409	10	0.87932	D	0	.	8.0141	0.30370	0.8177:0.0:0.0:0.1823	.	125	Q9C009	FOXQ1_HUMAN	L	125	ENSP00000296839:I125L	ENSP00000296839:I125L	I	+	1	0	FOXQ1	1258312	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	5.489000	0.66875	1.418000	0.47098	0.155000	0.16302	ATC	FOXQ1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.721	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXQ1	HGNC	protein_coding	OTTHUMT00000043410.1	A	NM_033260		1313312	+1	no_errors	ENST00000296839	ensembl	human	known	70_37	missense	SNP	1.000	C
FRAT1	10023	genome.wustl.edu	37	10	99080045	99080045	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:99080045A>C	ENST00000371021.3	+	1	1024	c.835A>C	c.(835-837)Agc>Cgc	p.S279R		NM_005479.3	NP_005470.2	Q92837	FRAT1_HUMAN	frequently rearranged in advanced T-cell lymphomas 1	279					embryonic axis specification (GO:0000578)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)				prostate(1)	1		Colorectal(252;0.0846)		Epithelial(162;2.76e-09)|all cancers(201;1.57e-07)		TGTGCCTGGCAGCTAACACGC	0.682																																																	0													5.0	7.0	6.0					10																	99080045		2122	4235	6357	SO:0001583	missense	10023			U58975	CCDS7455.1	10q24.1	2014-05-09	2014-05-09		ENSG00000165879	ENSG00000165879			3944	protein-coding gene	gene with protein product		602503	"""frequently rearranged in advanced T-cell lymphomas"""			9034327	Standard	NM_005479		Approved		uc001knc.1	Q92837	OTTHUMG00000018848	ENST00000371021.3:c.835A>C	10.37:g.99080045A>C	ENSP00000360060:p.Ser279Arg		Q5JTI1|Q8NE74|Q8TDW9	Missense_Mutation	SNP	pfam_GSK3-bd	p.S279R	ENST00000371021.3	37	c.835	CCDS7455.1	10	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959922	0.74016	.	.	ENSG00000165879	ENST00000371021	.	.	.	3.81	2.56	0.30785	.	.	.	.	.	T	0.37265	0.0997	N	0.19112	0.55	0.25432	N	0.988174	D	0.69078	0.997	P	0.60789	0.879	T	0.10543	-1.0625	8	0.87932	D	0	.	7.6856	0.28538	0.8111:0.0:0.0:0.1889	.	279	Q92837	FRAT1_HUMAN	R	279	.	ENSP00000360060:S279R	S	+	1	0	FRAT1	99070035	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.156000	0.31712	1.717000	0.51406	0.402000	0.26972	AGC	FRAT1	-	NULL		0.682	FRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAT1	HGNC	protein_coding	OTTHUMT00000049673.1	A	NM_005479		99080045	+1	no_errors	ENST00000371021	ensembl	human	known	70_37	missense	SNP	0.999	C
FREM2	341640	genome.wustl.edu	37	13	39264464	39264464	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:39264464T>G	ENST00000280481.7	+	1	3199	c.2983T>G	c.(2983-2985)Ttg>Gtg	p.L995V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	995					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGGGAAATCTTGGTCAATGG	0.443																																																	0													133.0	137.0	135.0					13																	39264464		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2983T>G	13.37:g.39264464T>G	ENSP00000280481:p.Leu995Val		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.L995V	ENST00000280481.7	37	c.2983	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616571	0.28801	.	.	ENSG00000150893	ENST00000280481	T	0.22336	1.96	5.79	1.96	0.26148	.	0.074047	0.56097	D	0.000035	T	0.21962	0.0529	L	0.60067	1.865	0.58432	D	0.999997	P	0.35507	0.506	B	0.39152	0.292	T	0.01935	-1.1244	10	0.40728	T	0.16	.	9.1067	0.36703	0.0:0.6133:0.0:0.3867	.	995	Q5SZK8	FREM2_HUMAN	V	995	ENSP00000280481:L995V	ENSP00000280481:L995V	L	+	1	2	FREM2	38162464	0.000000	0.05858	0.991000	0.47740	0.944000	0.59088	-0.719000	0.04974	0.047000	0.15862	0.528000	0.53228	TTG	FREM2	-	NULL		0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	T	NM_207361		39264464	+1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	0.997	G
FRK	2444	genome.wustl.edu	37	6	116263652	116263652	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:116263652C>A	ENST00000606080.1	-	8	1889	c.1443G>T	c.(1441-1443)gaG>gaT	p.E481D	FRK_ENST00000538210.1_Missense_Mutation_p.E339D	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AACGCAGTGTCTCAAATGTAG	0.378																																																	0													145.0	137.0	140.0					6																	116263652		2203	4300	6503	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1443G>T	6.37:g.116263652C>A	ENSP00000476145:p.Glu481Asp		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E481D	ENST00000606080.1	37	c.1443	CCDS5103.1	6	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476882	0.26511	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	D;D	0.82984	-1.67;-1.67	5.59	1.57	0.23409	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000010	T	0.68091	0.2963	N	0.16066	0.365	0.58432	D	0.999995	D	0.58970	0.984	P	0.60886	0.88	T	0.68622	-0.5360	10	0.40728	T	0.16	.	5.6715	0.17725	0.0:0.5199:0.13:0.3501	.	481	P42685	FRK_HUMAN	D	481;339	ENSP00000357615:E481D;ENSP00000443075:E339D	ENSP00000357615:E481D	E	-	3	2	FRK	116370345	0.908000	0.30866	0.998000	0.56505	0.160000	0.22226	0.678000	0.25277	0.743000	0.32719	0.591000	0.81541	GAG	FRK	-	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,pfscan_Prot_kinase_cat_dom		0.378	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	HGNC	protein_coding	OTTHUMT00000041924.2	C	NM_002031		116263652	-1	no_errors	ENST00000368626	ensembl	human	known	70_37	missense	SNP	0.998	A
FRK	2444	genome.wustl.edu	37	6	116325055	116325055	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:116325055C>A	ENST00000606080.1	-	2	897	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	FRK_ENST00000538210.1_5'Flank	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	151	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AGAGAGAATTCTCCTTTTTGG	0.388																																																	0													99.0	89.0	93.0					6																	116325055		2203	4300	6503	SO:0001587	stop_gained	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.451G>T	6.37:g.116325055C>A	ENSP00000476145:p.Glu151*		B4DY49|Q13128|Q9NTR5	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E151*	ENST00000606080.1	37	c.451	CCDS5103.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.595556	0.98381	.	.	ENSG00000111816	ENST00000368626	.	.	.	5.97	3.27	0.37495	.	0.771801	0.11657	N	0.542246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	12.8043	0.57605	0.0:0.8464:0.0:0.1536	.	.	.	.	X	151	.	ENSP00000357615:E151X	E	-	1	0	FRK	116431748	0.942000	0.31987	0.320000	0.25306	0.692000	0.40212	0.935000	0.28924	0.435000	0.26365	0.655000	0.94253	GAA	FRK	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.388	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	HGNC	protein_coding	OTTHUMT00000041924.2	C	NM_002031		116325055	-1	no_errors	ENST00000368626	ensembl	human	known	70_37	nonsense	SNP	0.976	A
FRMD4A	55691	genome.wustl.edu	37	10	13852888	13852888	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:13852888C>T	ENST00000357447.2	-	4	500	c.132G>A	c.(130-132)gaG>gaA	p.E44E	FRMD4A_ENST00000342409.2_Silent_p.E60E|FRMD4A_ENST00000378503.1_Silent_p.E44E|FRMD4A_ENST00000358621.4_Silent_p.E29E	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	44	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGTCAAGAAGCTCCTTGGCCA	0.433																																																	0													68.0	62.0	64.0					10																	13852888		2203	4300	6503	SO:0001819	synonymous_variant	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.132G>A	10.37:g.13852888C>T			A7E2Y3|Q5T377	Silent	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.E44	ENST00000357447.2	37	c.132	CCDS7101.1	10																																																																																			FRMD4A	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.433	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	C	NM_018027		13852888	-1	no_errors	ENST00000357447	ensembl	human	known	70_37	silent	SNP	1.000	T
FRMPD3	84443	genome.wustl.edu	37	X	106840934	106840934	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:106840934A>C	ENST00000276185.4	+	15	1924	c.1924A>C	c.(1924-1926)Aat>Cat	p.N642H				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	642						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGAAGCCCTGAATTTCTACTG	0.537																																																	0													28.0	26.0	27.0					X																	106840934		876	1989	2865	SO:0001583	missense	84443			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.1924A>C	X.37:g.106840934A>C	ENSP00000276185:p.Asn642His		Q96JK8	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.N642H	ENST00000276185.4	37	c.1924		X	.	.	.	.	.	.	.	.	.	.	A	11.41	1.629238	0.28978	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.14516	2.5;2.5	5.17	5.17	0.71159	.	0.349150	0.30464	N	0.009578	T	0.15305	0.0369	L	0.36672	1.1	0.22317	N	0.999205	.	.	.	.	.	.	T	0.12528	-1.0544	8	0.44086	T	0.13	.	9.9482	0.41623	0.8181:0.1819:0.0:0.0	.	.	.	.	H	642;590	ENSP00000276185:N642H;ENSP00000398668:N590H	ENSP00000276185:N642H	N	+	1	0	FRMPD3	106727590	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.036000	0.57304	1.924000	0.55735	0.356000	0.21956	AAT	FRMPD3	-	NULL		0.537	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		A	XM_042978		106840934	+1	no_errors	ENST00000276185	ensembl	human	known	70_37	missense	SNP	1.000	C
FSHR	2492	genome.wustl.edu	37	2	49210085	49210085	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:49210085C>A	ENST00000406846.2	-	8	753	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.D212Y|FSHR_ENST00000304421.4_Missense_Mutation_p.D186Y|FSHR_ENST00000469138.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	212					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TGGAAAACATCATTAGGCAAT	0.408									Gonadal Dysgenesis, 46 XX																																								0													100.0	97.0	98.0					2																	49210085		2203	4300	6503	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.634G>T	2.37:g.49210085C>A	ENSP00000384708:p.Asp212Tyr		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.D212Y	ENST00000406846.2	37	c.634	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165280	0.57476	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;D;T;D	0.90620	0.29;-2.7;0.29;-2.7	5.53	5.53	0.82687	.	0.450948	0.26026	N	0.026799	D	0.91630	0.7355	L	0.49350	1.555	0.80722	D	1	D;D;D	0.76494	0.971;0.999;0.994	P;P;P	0.57960	0.826;0.83;0.812	D	0.90043	0.4143	9	.	.	.	.	12.0885	0.53710	0.0:0.9195:0.0:0.0805	.	186;212;212	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Y	212;212;186;212	ENSP00000384708:D212Y;ENSP00000333908:D212Y;ENSP00000306780:D186Y;ENSP00000415504:D212Y	.	D	-	1	0	FSHR	49063589	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.836000	0.48183	2.882000	0.98803	0.655000	0.94253	GAT	FSHR	-	pfam_Leu-rich_rpt,prints_TSH_rcpt		0.408	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	C			49210085	-1	no_errors	ENST00000406846	ensembl	human	known	70_37	missense	SNP	1.000	A
FRZB	2487	genome.wustl.edu	37	2	183699692	183699692	+	Splice_Site	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:183699692G>A	ENST00000295113.4	-	6	1471	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	288	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			ATATCCCAGCGCTGTGAAATT	0.428																																																	0													73.0	71.0	72.0					2																	183699692		2203	4300	6503	SO:0001630	splice_region_variant	2487			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.862-1C>T	2.37:g.183699692G>A			O00181|Q99686	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.R288C	ENST00000295113.4	37	c.862	CCDS2286.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170549	0.78452	.	.	ENSG00000162998	ENST00000295113	T	0.26223	1.75	5.6	5.6	0.85130	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.45891	-0.9230	10	0.87932	D	0	.	19.628	0.95687	0.0:0.0:1.0:0.0	.	288	Q92765	SFRP3_HUMAN	C	288	ENSP00000295113:R288C	ENSP00000295113:R288C	R	-	1	0	FRZB	183407937	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.778000	0.75043	2.648000	0.89879	0.650000	0.86243	CGC	FRZB	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.428	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRZB	HGNC	protein_coding	OTTHUMT00000255808.1	G	NM_001463	Missense_Mutation	183699692	-1	no_errors	ENST00000295113	ensembl	human	known	70_37	missense	SNP	1.000	A
FSIP2	401024	genome.wustl.edu	37	2	186669523	186669523	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:186669523G>T	ENST00000424728.1	+	17	15490	c.15490G>T	c.(15490-15492)Gaa>Taa	p.E5164*	FSIP2_ENST00000343098.5_Nonsense_Mutation_p.E5253*			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5164										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATTATAAAAGAAATTTCTGA	0.353																																																	0																																										SO:0001587	stop_gained	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.15490G>T	2.37:g.186669523G>T	ENSP00000401306:p.Glu5164*		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Nonsense_Mutation	SNP	NULL	p.E5253*	ENST00000424728.1	37	c.15757		2	.	.	.	.	.	.	.	.	.	.	G	56	25.815376	0.99966	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.7114	0.62670	0.0:0.0:1.0:0.0	.	.	.	.	X	5253;5164	.	ENSP00000344403:E5253X	E	+	1	0	FSIP2	186377768	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.137000	0.50562	2.611000	0.88343	0.585000	0.79938	GAA	FSIP2	-	NULL		0.353	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	G	NM_173651		186669523	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	nonsense	SNP	0.998	T
FTL	2512	genome.wustl.edu	37	19	49468795	49468795	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:49468795A>G	ENST00000331825.6	+	1	238	c.31A>G	c.(31-33)Acc>Gcc	p.T11A	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	11	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		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)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GAATTATTCCACCGACGTGGA	0.572																																																	0													63.0	63.0	63.0					19																	49468795		2203	4300	6503	SO:0001583	missense	2512			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.31A>G	19.37:g.49468795A>G	ENSP00000366525:p.Thr11Ala		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron	p.T11A	ENST00000331825.6	37	c.31	CCDS33070.1	19	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580944	0.46006	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.67698	-0.28	5.54	-1.22	0.09494	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin-like (1);	0.662303	0.15977	N	0.235509	T	0.49029	0.1533	L	0.58925	1.835	0.24366	N	0.994859	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.004	T	0.22765	-1.0207	10	0.11794	T	0.64	.	0.8445	0.01158	0.3486:0.2475:0.0979:0.3059	.	11;11	P02792;F5H1X1	FRIL_HUMAN;.	A	11	ENSP00000366525:T11A	ENSP00000366525:T11A	T	+	1	0	FTL	54160607	0.001000	0.12720	0.985000	0.45067	0.995000	0.86356	-0.252000	0.08806	0.064000	0.16427	0.533000	0.62120	ACC	FTL	-	superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron		0.572	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTL	HGNC	protein_coding	OTTHUMT00000466233.1	A	NM_000146		49468795	+1	no_errors	ENST00000331825	ensembl	human	known	70_37	missense	SNP	0.985	G
CMTR1	23070	genome.wustl.edu	37	6	37426574	37426574	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:37426574G>A	ENST00000373451.4	+	9	1128	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	322	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										TGAACTCTTCGAACCCTACTA	0.507																																																	0													77.0	69.0	72.0					6																	37426574		2203	4300	6503	SO:0001583	missense	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.964G>A	6.37:g.37426574G>A	ENSP00000362550:p.Glu322Lys		A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom	p.E322K	ENST00000373451.4	37	c.964	CCDS4835.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.692010	0.96793	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.28255	1.62;1.62	5.87	5.87	0.94306	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	L	0.54908	1.71	0.80722	D	1	D;D	0.76494	0.999;0.989	D;P	0.67103	0.949;0.825	T	0.02251	-1.1188	10	0.17832	T	0.49	-24.9934	19.2073	0.93736	0.0:0.0:1.0:0.0	.	266;322	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	K	322;266;266	ENSP00000362550:E322K;ENSP00000414233:E266K	ENSP00000362526:E266K	E	+	1	0	FTSJD2	37534552	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.471000	0.97696	2.780000	0.95670	0.655000	0.94253	GAA	FTSJD2	-	pfam_rRNA_MeTrfase_FtsJ_dom		0.507	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD2	HGNC	protein_coding	OTTHUMT00000040408.1	G	NM_015050		37426574	+1	no_errors	ENST00000373451	ensembl	human	known	70_37	missense	SNP	1.000	A
CMTR1	23070	genome.wustl.edu	37	6	37443917	37443917	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:37443917G>T	ENST00000373451.4	+	20	2216	c.2052G>T	c.(2050-2052)gaG>gaT	p.E684D		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	684					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										AGCTTGCCGAGAAATTTGTGA	0.537																																																	0													127.0	122.0	124.0					6																	37443917		2203	4300	6503	SO:0001583	missense	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.2052G>T	6.37:g.37443917G>T	ENSP00000362550:p.Glu684Asp		A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom	p.E684D	ENST00000373451.4	37	c.2052	CCDS4835.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.85|17.85	3.490555|3.490555	0.64074|0.64074	.|.	.|.	ENSG00000137200|ENSG00000137200	ENST00000373451;ENST00000373420;ENST00000452299|ENST00000457419	D|.	0.85411|.	-1.98|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.134755|.	0.64402|.	D|.	0.000002|.	T|T	0.71467|0.71467	0.3343|0.3343	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	B|.	0.13145|.	0.007|.	B|.	0.10450|.	0.005|.	T|T	0.69993|0.69993	-0.4994|-0.4994	10|5	0.48119|.	T|.	0.1|.	-19.4094|-19.4094	17.8968|17.8968	0.88891|0.88891	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	684|.	Q8N1G2|.	MTR1_HUMAN|.	D|I	684;91;28|37	ENSP00000362550:E684D|.	ENSP00000362519:E91D|.	E|R	+|+	3|2	2|0	FTSJD2|FTSJD2	37551895|37551895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	4.462000|4.462000	0.60121|0.60121	2.812000|2.812000	0.96745|0.96745	0.555000|0.555000	0.69702|0.69702	GAG|AGA	FTSJD2	-	NULL		0.537	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD2	HGNC	protein_coding	OTTHUMT00000040408.1	G	NM_015050		37443917	+1	no_errors	ENST00000373451	ensembl	human	known	70_37	missense	SNP	1.000	T
FUBP1	8880	genome.wustl.edu	37	1	78428511	78428511	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:78428511G>A	ENST00000370768.2	-	14	1369	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	FUBP1_ENST00000370767.1_Missense_Mutation_p.R430C|FUBP1_ENST00000436586.2_Missense_Mutation_p.R451C	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	430	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAGTGCCACGAATTGTAAAT	0.368			"""F, N"""		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													120.0	115.0	116.0					1																	78428511		2203	4300	6503	SO:0001583	missense	8880			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1288C>T	1.37:g.78428511G>A	ENSP00000359804:p.Arg430Cys		Q12828	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.R451C	ENST00000370768.2	37	c.1351	CCDS683.1	1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653647	0.47362	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.32753	1.44;1.44;1.44	5.67	4.75	0.60458	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64685	-0.6349	10	0.87932	D	0	-9.9778	16.4057	0.83669	0.0:0.0:0.8672:0.1328	.	451;430	B4DT31;Q96AE4	.;FUBP1_HUMAN	C	429;430;430;429;451	ENSP00000359803:R430C;ENSP00000359804:R430C;ENSP00000389536:R451C	ENSP00000294623:R429C	R	-	1	0	FUBP1	78201099	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	6.375000	0.73137	1.520000	0.48965	-0.169000	0.13324	CGT	FUBP1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.368	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3	G	NM_003902		78428511	-1	no_errors	ENST00000436586	ensembl	human	known	70_37	missense	SNP	1.000	A
FUT1	2523	genome.wustl.edu	37	19	49254472	49254472	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:49254472A>C	ENST00000310160.3	-	4	1041	c.67T>G	c.(67-69)Ttc>Gtc	p.F23V	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	23					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TGGAGGAAGAAGATTACAGAG	0.572																																																	0													63.0	59.0	61.0					19																	49254472		2203	4300	6503	SO:0001583	missense	2523				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.67T>G	19.37:g.49254472A>C	ENSP00000312021:p.Phe23Val		O14505|O14506|O14507	Missense_Mutation	SNP	pfam_Glyco_trans_11	p.F23V	ENST00000310160.3	37	c.67	CCDS12733.1	19	.	.	.	.	.	.	.	.	.	.	A	14.27	2.486162	0.44147	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	T	0.66280	-0.2	3.05	1.98	0.26296	.	1.343460	0.05054	N	0.478655	T	0.65386	0.2686	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	D	0.72338	0.977	T	0.53099	-0.8486	10	0.19147	T	0.46	-19.2794	5.3742	0.16156	0.7485:0.0:0.0:0.2515	.	23	P19526	FUT1_HUMAN	V	23	ENSP00000312021:F23V	ENSP00000312021:F23V	F	-	1	0	FUT1	53946284	0.000000	0.05858	0.001000	0.08648	0.299000	0.27559	0.473000	0.22132	0.349000	0.23975	0.533000	0.62120	TTC	FUT1	-	NULL		0.572	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT1	HGNC	protein_coding	OTTHUMT00000466194.1	A	NM_000148		49254472	-1	no_errors	ENST00000310160	ensembl	human	known	70_37	missense	SNP	0.006	C
FUT8	2530	genome.wustl.edu	37	14	66208817	66208817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:66208817C>T	ENST00000360689.5	+	11	3144	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	FUT8_ENST00000394585.1_Nonsense_Mutation_p.R473*|FUT8_ENST00000557164.1_Nonsense_Mutation_p.R310*|FUT8_ENST00000358307.2_Nonsense_Mutation_p.R344*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.R473*|FUT8_ENST00000417683.1_Nonsense_Mutation_p.R67*	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	473	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CAAGGTCTGTCGAGTTGCTTA	0.403																																																	0													86.0	88.0	87.0					14																	66208817		2203	4300	6503	SO:0001587	stop_gained	2530			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1417C>T	14.37:g.66208817C>T	ENSP00000353910:p.Arg473*		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Nonsense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.R473*	ENST00000360689.5	37	c.1417	CCDS9775.1	14	.	.	.	.	.	.	.	.	.	.	C	43	10.086436	0.99333	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	.	.	.	6.17	4.32	0.51571	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6487	7.4882	0.27445	0.2945:0.6297:0.0:0.0758	.	.	.	.	X	473;473;310;473;344;67	.	ENSP00000351057:R344X	R	+	1	2	FUT8	65278570	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.433000	0.44793	0.891000	0.36235	-0.150000	0.13652	CGA	FUT8	-	pirsf_Alpha1_6FUT_euk		0.403	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	C	NM_004480		66208817	+1	no_errors	ENST00000360689	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FZD6	8323	genome.wustl.edu	37	8	104337581	104337581	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:104337581G>A	ENST00000358755.4	+	4	1564	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	FZD6_ENST00000540287.1_Missense_Mutation_p.R111Q|FZD6_ENST00000522566.1_Missense_Mutation_p.R416Q|FZD6_ENST00000523739.1_Missense_Mutation_p.R384Q	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	416					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R416Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTTATGATTCGAATTGGAGTC	0.403																																																	1	Substitution - Missense(1)	urinary_tract(1)											137.0	129.0	132.0					8																	104337581		2203	4300	6503	SO:0001583	missense	8323			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1247G>A	8.37:g.104337581G>A	ENSP00000351605:p.Arg416Gln		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R416Q	ENST00000358755.4	37	c.1247	CCDS6298.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.340033	0.95783	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.998	D	0.95189	0.8306	10	0.87932	D	0	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	361;111;416;416	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	Q	416;416;384;111;361	ENSP00000429055:R416Q;ENSP00000351605:R416Q;ENSP00000429528:R384Q;ENSP00000443757:R111Q	ENSP00000351605:R416Q	R	+	2	0	FZD6	104406757	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	CGA	FZD6	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled		0.403	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	HGNC	protein_coding	OTTHUMT00000380560.1	G	NM_003506		104337581	+1	no_errors	ENST00000358755	ensembl	human	known	70_37	missense	SNP	1.000	A
G6PC2	57818	genome.wustl.edu	37	2	169764214	169764214	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:169764214C>A	ENST00000375363.3	+	5	785	c.693C>A	c.(691-693)gaC>gaA	p.D231E	G6PC2_ENST00000421979.1_3'UTR|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	231					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TCAACATTGACCTGCTGTGGT	0.527																																																	0													185.0	151.0	162.0					2																	169764214		2203	4300	6503	SO:0001583	missense	57818			AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.693C>A	2.37:g.169764214C>A	ENSP00000364512:p.Asp231Glu		E9PAX2|Q6AHZ0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.D231E	ENST00000375363.3	37	c.693	CCDS2230.1	2	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698320	0.68386	.	.	ENSG00000152254	ENST00000375363	T	0.78707	-1.2	5.86	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.78049	2.395	0.80722	D	1	D	0.57899	0.981	P	0.46362	0.514	T	0.78788	-0.2067	10	0.62326	D	0.03	-21.0592	10.7818	0.46382	0.0:0.674:0.0:0.326	.	231	Q9NQR9	G6PC2_HUMAN	E	231	ENSP00000364512:D231E	ENSP00000364512:D231E	D	+	3	2	G6PC2	169472460	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	0.795000	0.26972	0.398000	0.25338	0.655000	0.94253	GAC	G6PC2	-	pirsf_Glucose-6-phosphatase		0.527	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G6PC2	HGNC	protein_coding	OTTHUMT00000255234.2	C	NM_021176		169764214	+1	no_errors	ENST00000375363	ensembl	human	known	70_37	missense	SNP	0.998	A
GAA	2548	genome.wustl.edu	37	17	78078694	78078694	+	Silent	SNP	C	C	T	rs373307393		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:78078694C>T	ENST00000302262.3	+	2	528	c.309C>T	c.(307-309)tgC>tgT	p.C103C	GAA_ENST00000390015.3_Silent_p.C103C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	103	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.		C -> G (in GSD2; infantile form; severe; loss of activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme). {ECO:0000269|PubMed:14695532, ECO:0000269|PubMed:18429042, ECO:0000269|PubMed:21109266}.|C -> R (in GSD2). {ECO:0000269|PubMed:22644586}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	AGGAACAGTGCGAGGCCCGCG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15571	0.0		0.001	False		,,,				2504	0.0																0			GRCh37	CM040050	GAA	M		C	,,	0,4406		0,0,2203	31.0	29.0	29.0		309,309,309	-3.3	1.0	17		29	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GAA	NM_000152.3,NM_001079803.1,NM_001079804.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	103/953,103/953,103/953	78078694	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.309C>T	17.37:g.78078694C>T			Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.C103	ENST00000302262.3	37	c.309	CCDS32760.1	17																																																																																			GAA	-	pfam_P_trefoil,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil		0.667	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	C			78078694	+1	no_errors	ENST00000302262	ensembl	human	known	70_37	silent	SNP	0.985	T
GABBR1	2550	genome.wustl.edu	37	6	29589055	29589055	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:29589055A>G	ENST00000377034.4	-	11	1481	c.1146T>C	c.(1144-1146)cgT>cgC	p.R382R	GABBR1_ENST00000377012.4_Silent_p.R265R|GABBR1_ENST00000377016.4_Silent_p.R320R|GABBR1_ENST00000355973.3_Silent_p.R265R|GABBR1_ENST00000376977.3_Silent_p.R382R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	382					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCCCAAAGAGACGCTCCTTGT	0.423																																																	0													118.0	96.0	104.0					6																	29589055		1511	2709	4220	SO:0001819	synonymous_variant	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1146T>C	6.37:g.29589055A>G			B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.R382	ENST00000377034.4	37	c.1146	CCDS4663.1	6																																																																																			GABBR1	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B		0.423	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	A			29589055	-1	no_errors	ENST00000377034	ensembl	human	known	70_37	silent	SNP	0.996	G
GABRA4	2557	genome.wustl.edu	37	4	46973127	46973127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:46973127C>A	ENST00000264318.3	-	7	1829	c.847G>T	c.(847-849)Gaa>Taa	p.E283*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	283					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GGAACTGATTCTTTATTTATC	0.348																																					Ovarian(6;283 369 8234 12290 33402)												0													61.0	60.0	60.0					4																	46973127		2202	4299	6501	SO:0001587	stop_gained	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.847G>T	4.37:g.46973127C>A	ENSP00000264318:p.Glu283*		Q8IYR7	Nonsense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.E283*	ENST00000264318.3	37	c.847	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	C	45	11.919780	0.99617	.	.	ENSG00000109158	ENST00000264318	.	.	.	5.42	5.42	0.78866	.	0.056829	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3928	0.90489	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000264318:E283X	E	-	1	0	GABRA4	46667884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.651000	0.83577	2.821000	0.97095	0.650000	0.86243	GAA	GABRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.348	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	C			46973127	-1	no_errors	ENST00000264318	ensembl	human	known	70_37	nonsense	SNP	1.000	A
GABRB3	2562	genome.wustl.edu	37	15	26812812	26812812	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:26812812A>C	ENST00000311550.5	-	7	862	c.751T>G	c.(751-753)Tat>Gat	p.Y251D	GABRB3_ENST00000541819.2_Missense_Mutation_p.Y307D|GABRB3_ENST00000545868.1_Missense_Mutation_p.Y166D|GABRB3_ENST00000400188.3_Missense_Mutation_p.Y180D|GABRB3_ENST00000299267.4_Missense_Mutation_p.Y251D	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	251					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAGGGCATATAAGTCTGAAGA	0.433																																																	0													134.0	113.0	120.0					15																	26812812		2203	4300	6503	SO:0001583	missense	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.751T>G	15.37:g.26812812A>C	ENSP00000308725:p.Tyr251Asp		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Y251D	ENST00000311550.5	37	c.751	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	A	19.20	3.781359	0.70222	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	H	0.96996	3.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97757	1.0218	10	0.87932	D	0	.	15.7938	0.78394	1.0:0.0:0.0:0.0	.	307;251;251	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	D	251;307;251;180;166	ENSP00000308725:Y251D;ENSP00000442408:Y307D;ENSP00000299267:Y251D;ENSP00000383049:Y180D;ENSP00000439169:Y166D	ENSP00000299267:Y251D	Y	-	1	0	GABRB3	24363905	1.000000	0.71417	0.946000	0.38457	0.438000	0.31896	9.204000	0.95041	2.322000	0.78497	0.528000	0.53228	TAT	GABRB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.433	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	A			26812812	-1	no_errors	ENST00000299267	ensembl	human	known	70_37	missense	SNP	0.999	C
GABRD	2563	genome.wustl.edu	37	1	1956825	1956825	+	Silent	SNP	C	C	A	rs576565752		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:1956825C>A	ENST00000378585.4	+	3	317	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	78					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCGACCACATCTCAGAGGCCA	0.652																																																	0													64.0	67.0	66.0					1																	1956825		2203	4300	6503	SO:0001819	synonymous_variant	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.234C>A	1.37:g.1956825C>A			Q8N4N9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.I78	ENST00000378585.4	37	c.234	CCDS36.1	1																																																																																			GABRD	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.652	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	C	NM_000815		1956825	+1	no_errors	ENST00000378585	ensembl	human	known	70_37	silent	SNP	1.000	A
GABRG3	2567	genome.wustl.edu	37	15	27572007	27572007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:27572007C>T	ENST00000333743.6	+	4	576	c.322C>T	c.(322-324)Cga>Tga	p.R108*	GABRG3_ENST00000555083.1_Nonsense_Mutation_p.R108*	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	108					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TAGTCGCCTTCGATTCAACAG	0.423																																					NSCLC(114;800 1656 7410 37729 45293)												0													152.0	151.0	152.0					15																	27572007		1972	4183	6155	SO:0001587	stop_gained	2567				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.322C>T	15.37:g.27572007C>T	ENSP00000331912:p.Arg108*		G3V594|Q9HD46|Q9NYT2	Nonsense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R108*	ENST00000333743.6	37	c.322	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.731740	0.96856	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	.	.	.	5.75	4.83	0.62350	.	0.058025	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	13.1095	0.59265	0.2916:0.7084:0.0:0.0	.	.	.	.	X	108;108;50	.	ENSP00000331912:R108X	R	+	1	2	GABRG3	25154753	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	3.862000	0.56009	1.420000	0.47138	0.650000	0.86243	CGA	GABRG3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.423	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2	C			27572007	+1	no_errors	ENST00000333743	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GABRR1	2569	genome.wustl.edu	37	6	89888707	89888707	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:89888707C>A	ENST00000454853.2	-	10	1332	c.1222G>T	c.(1222-1224)Gac>Tac	p.D408Y	GABRR1_ENST00000369451.3_Missense_Mutation_p.D321Y|GABRR1_ENST00000435811.1_Missense_Mutation_p.D391Y	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	408					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TTGTCCAGGTCATTCACCTCC	0.567																																																	0													143.0	125.0	131.0					6																	89888707		2203	4300	6503	SO:0001583	missense	2569				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1222G>T	6.37:g.89888707C>A	ENSP00000412673:p.Asp408Tyr		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.D408Y	ENST00000454853.2	37	c.1222	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550661	0.27739	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.83335	-1.71;-1.71;-1.71	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.259551	0.45361	D	0.000364	T	0.79143	0.4396	L	0.29908	0.895	0.40086	D	0.976197	B;P	0.46578	0.315;0.88	B;P	0.59171	0.207;0.853	T	0.78168	-0.2309	9	.	.	.	-26.5156	12.9894	0.58610	0.0:0.9264:0.0:0.0736	.	391;408	P24046-2;P24046	.;GBRR1_HUMAN	Y	408;391;321;321	ENSP00000412673:D408Y;ENSP00000394687:D391Y;ENSP00000358463:D321Y	.	D	-	1	0	GABRR1	89945426	0.997000	0.39634	0.991000	0.47740	0.022000	0.10575	2.588000	0.46137	2.646000	0.89796	0.655000	0.94253	GAC	GABRR1	-	superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.567	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	HGNC	protein_coding	OTTHUMT00000041479.2	C			89888707	-1	no_errors	ENST00000454853	ensembl	human	known	70_37	missense	SNP	1.000	A
GALNT3	2591	genome.wustl.edu	37	2	166621549	166621549	+	Missense_Mutation	SNP	A	A	C	rs547467910		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:166621549A>C	ENST00000392701.3	-	3	1308	c.533T>G	c.(532-534)tTt>tGt	p.F178C		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	178					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCAGCGCTTAAATTTTTGTTC	0.363													a|||	1	0.000199681	0.0008	0.0	5008	,	,		16241	0.0		0.0	False		,,,				2504	0.0																0													57.0	56.0	56.0					2																	166621549		2203	4300	6503	SO:0001583	missense	2591				CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.533T>G	2.37:g.166621549A>C	ENSP00000376465:p.Phe178Cys		Q53TG9|Q7Z476	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F178C	ENST00000392701.3	37	c.533	CCDS2226.1	2	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657676	0.47467	.	.	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.61859	0.36;0.07	5.8	5.8	0.92144	.	0.167364	0.52532	D	0.000063	T	0.76955	0.4060	M	0.80508	2.5	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.80540	-0.1337	10	0.87932	D	0	.	16.138	0.81502	1.0:0.0:0.0:0.0	.	178	Q14435	GALT3_HUMAN	C	178	ENSP00000376465:F178C;ENSP00000412643:F178C	ENSP00000376465:F178C	F	-	2	0	GALNT3	166329795	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	9.152000	0.94680	2.203000	0.70933	0.459000	0.35465	TTT	GALNT3	-	NULL		0.363	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT3	HGNC	protein_coding	OTTHUMT00000255205.2	A	NM_004482		166621549	-1	no_errors	ENST00000392701	ensembl	human	known	70_37	missense	SNP	1.000	C
GALNTL6	442117	genome.wustl.edu	37	4	173150836	173150836	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:173150836A>G	ENST00000506823.1	+	3	825	c.168A>G	c.(166-168)caA>caG	p.Q56Q	GALNTL6_ENST00000508122.1_Silent_p.Q39Q	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	56					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAGATGGGCAATTCTATTCAT	0.453																																																	0													118.0	103.0	108.0					4																	173150836		2203	4300	6503	SO:0001819	synonymous_variant	442117				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.168A>G	4.37:g.173150836A>G			Q2L4S6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Q56	ENST00000506823.1	37	c.168	CCDS34104.1	4																																																																																			GALNTL6	-	NULL		0.453	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	A	NM_001034845		173150836	+1	no_errors	ENST00000506823	ensembl	human	known	70_37	silent	SNP	1.000	G
GALR2	8811	genome.wustl.edu	37	17	74073164	74073164	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:74073164G>A	ENST00000329003.3	+	2	906	c.816G>A	c.(814-816)gcG>gcA	p.A272A	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	272					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCACTTATGCGCTTCGCATCC	0.632																																																	0													42.0	38.0	39.0					17																	74073164		2203	4300	6503	SO:0001819	synonymous_variant	8811			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.816G>A	17.37:g.74073164G>A			A5JUU4|Q32MN8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt	p.A272	ENST00000329003.3	37	c.816	CCDS11739.1	17																																																																																			GALR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt		0.632	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	G			74073164	+1	no_errors	ENST00000329003	ensembl	human	known	70_37	silent	SNP	1.000	A
GATA1	2623	genome.wustl.edu	37	X	48649666	48649666	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48649666G>A	ENST00000376670.3	+	2	261	c.150G>A	c.(148-150)ccG>ccA	p.P50P	GATA1_ENST00000376665.3_Silent_p.P50P	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	50					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M1fs(7)|p.P50fs*87(4)|p.D42_D74>(3)|p.P38fs*14(2)|p.T48fs*11(2)|p.E39fs*83(2)|p.A45fs*21(1)|p.S51fs*17(1)|p.S47fs*9(1)|p.S51fs*19(1)|p.P50fs*94(1)|p.A45fs*15(1)|p.S51fs*2(1)|p.A45fs*85(1)|p.P50fs*6(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CCACTGCCCCGAGCACAGCCA	0.597			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	29	Deletion - Frameshift(20)|Insertion - Frameshift(4)|Complex - deletion inframe(3)|Complex - frameshift(2)	haematopoietic_and_lymphoid_tissue(29)											25.0	17.0	20.0					X																	48649666		2199	4292	6491	SO:0001819	synonymous_variant	2623			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.150G>A	X.37:g.48649666G>A			Q96GB8	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P50	ENST00000376670.3	37	c.150	CCDS14305.1	X																																																																																			GATA1	-	pirsf_TF_GATA-1/2/3		0.597	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	G	NM_002049		48649666	+1	no_errors	ENST00000376670	ensembl	human	known	70_37	silent	SNP	0.000	A
GATC	283459	genome.wustl.edu	37	12	120894916	120894916	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:120894916A>G	ENST00000551806.1	+	4	386	c.386A>G	c.(385-387)cAa>cGa	p.Q129R	GATC_ENST00000551765.1_Missense_Mutation_p.N98D																							GGTAGAAGGCAACTGTGCTGA	0.498											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													141.0	113.0	122.0					12																	120894916		2203	4300	6503	SO:0001583	missense	283459																														ENST00000551806.1:c.386A>G	12.37:g.120894916A>G	ENSP00000450281:p.Gln129Arg	1507		Missense_Mutation	SNP	pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu	p.N98D	ENST00000551806.1	37	c.292		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.82|12.82	2.053640|2.053640	0.36277|0.36277	.|.	.|.	ENSG00000257218|ENSG00000111780	ENST00000551765;ENST00000229384|ENST00000551806	T|.	0.47528|.	0.84|.	5.6|5.6	3.15|3.15	0.36227|0.36227	.|.	0.342922|.	0.34200|.	N|.	0.004167|.	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.33189|0.33189	0.99|0.99	0.26673|0.26673	N|N	0.971693|0.971693	B|.	0.16166|.	0.016|.	B|.	0.15484|.	0.013|.	T|T	0.20840|0.20840	-1.0263|-1.0263	10|5	0.12766|.	T|.	0.61|.	-12.443|-12.443	10.2883|10.2883	0.43581|0.43581	0.8602:0.0:0.1398:0.0|0.8602:0.0:0.1398:0.0	.|.	98|.	O43716|.	GATC_HUMAN|.	D|R	98;21|129	ENSP00000446872:N98D|.	ENSP00000229384:N21D|.	N|Q	+|+	1|2	0|0	AL021546.1|GATC	119379299|119379299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	2.863000|2.863000	0.48396|0.48396	0.920000|0.920000	0.36970|0.36970	0.533000|0.533000	0.62120|0.62120	AAC|CAA	GATC	-	pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu		0.498	AL021546.6-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	GATC	HGNC	protein_coding	OTTHUMT00000403635.1	A			120894916	+1	no_errors	ENST00000551765	ensembl	human	known	70_37	missense	SNP	1.000	G
GBF1	8729	genome.wustl.edu	37	10	104018760	104018760	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:104018760G>A	ENST00000369983.3	+	2	325	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	AL160011.1_ENST00000516180.2_RNA	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	22					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCCATCAAACGAAATGCCCGA	0.413																																																	0													121.0	130.0	127.0					10																	104018760		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.65G>A	10.37:g.104018760G>A	ENSP00000359000:p.Arg22Gln		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.R22Q	ENST00000369983.3	37	c.65	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.922339	0.97105	.	.	ENSG00000107862	ENST00000369983	T	0.12255	2.7	5.95	5.95	0.96441	.	0.094130	0.47455	D	0.000222	T	0.36744	0.0978	M	0.63428	1.95	0.58432	D	0.999992	D;D;D;D	0.89917	0.997;0.994;0.985;1.0	P;P;P;D	0.66847	0.826;0.717;0.599;0.947	T	0.00482	-1.1713	10	0.45353	T	0.12	-4.7283	20.3931	0.98965	0.0:0.0:1.0:0.0	.	22;22;22;22	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	Q	22	ENSP00000359000:R22Q	ENSP00000359000:R22Q	R	+	2	0	GBF1	104008750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.735000	0.91549	2.824000	0.97209	0.655000	0.94253	CGA	GBF1	-	NULL		0.413	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	G			104018760	+1	no_errors	ENST00000369983	ensembl	human	known	70_37	missense	SNP	1.000	A
GBP1	2633	genome.wustl.edu	37	1	89520802	89520802	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:89520802T>C	ENST00000370473.4	-	9	1684	c.1465A>G	c.(1465-1467)Att>Gtt	p.I489V	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	489					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCACCTTCAATCTCCTTTTCT	0.403																																																	0													31.0	27.0	28.0					1																	89520802		2169	4256	6425	SO:0001583	missense	2633			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1465A>G	1.37:g.89520802T>C	ENSP00000359504:p.Ile489Val		D3DT26|Q5T8M1	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.I489V	ENST00000370473.4	37	c.1465	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246247	0.22796	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.02236	4.38	4.91	2.46	0.29980	Guanylate-binding protein, C-terminal (3);	0.423880	0.23756	N	0.044863	T	0.01092	0.0036	M	0.67397	2.05	0.25280	N	0.989445	B	0.06786	0.001	B	0.11329	0.006	T	0.46034	-0.9220	10	0.38643	T	0.18	.	7.9189	0.29835	0.0:0.18:0.0:0.82	.	489	P32455	GBP1_HUMAN	V	489;452	ENSP00000359504:I489V	ENSP00000359504:I489V	I	-	1	0	GBP1	89293390	0.572000	0.26668	0.662000	0.29724	0.689000	0.40095	0.682000	0.25335	0.195000	0.20347	0.402000	0.26972	ATT	GBP1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.403	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3	T	NM_002053		89520802	-1	no_errors	ENST00000370473	ensembl	human	known	70_37	missense	SNP	0.989	C
GBP1	2633	genome.wustl.edu	37	1	89524907	89524907	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:89524907G>T	ENST00000370473.4	-	4	648					NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible						cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTCCTTTTGAGCTTGATTCAT	0.428																																																	0																																										SO:0001627	intron_variant	2633			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.428+92C>A	1.37:g.89524907G>T			D3DT26|Q5T8M1	RNA	SNP	-	NULL	ENST00000370473.4	37	NULL	CCDS718.1	1																																																																																			GBP1	-	-		0.428	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3	G	NM_002053		89524907	-1	no_errors	ENST00000493139	ensembl	human	known	70_37	rna	SNP	0.000	T
PAXBP1	94104	genome.wustl.edu	37	21	34134460	34134460	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:34134460A>G	ENST00000331923.4	-	4	1007	c.818T>C	c.(817-819)aTa>aCa	p.I273T	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.I273T	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	273					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGAAAAAACTATCCGGCGTTT	0.373																																																	0													124.0	125.0	125.0					21																	34134460		2203	4300	6503	SO:0001583	missense	94104			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.818T>C	21.37:g.34134460A>G	ENSP00000328992:p.Ile273Thr		D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	pfam_GCFC_dom	p.I273T	ENST00000331923.4	37	c.818	CCDS13619.1	21	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824478	0.50739	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.38240	1.54;1.15	5.98	5.98	0.97165	.	0.189252	0.56097	D	0.000035	T	0.48314	0.1493	M	0.69358	2.11	0.52099	D	0.99994	D;B	0.56035	0.974;0.044	P;B	0.50659	0.647;0.019	T	0.41556	-0.9502	10	0.33141	T	0.24	-21.2461	16.1396	0.81513	1.0:0.0:0.0:0.0	.	273;273	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	T	273	ENSP00000328992:I273T;ENSP00000290178:I273T	ENSP00000290178:I273T	I	-	2	0	GCFC1	33056331	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	6.414000	0.73318	2.288000	0.76882	0.528000	0.53228	ATA	GCFC1	-	NULL		0.373	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC1	HGNC	protein_coding	OTTHUMT00000139563.1	A	NM_013329		34134460	-1	no_errors	ENST00000331923	ensembl	human	known	70_37	missense	SNP	1.000	G
GCM2	9247	genome.wustl.edu	37	6	10874955	10874955	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:10874955C>A	ENST00000379491.4	-	5	941	c.794G>T	c.(793-795)aGa>aTa	p.R265I	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	265					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CAAATAGATTCTTGGGCTTGA	0.453																																																	0													173.0	168.0	170.0					6																	10874955		2203	4300	6503	SO:0001583	missense	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.794G>T	6.37:g.10874955C>A	ENSP00000368805:p.Arg265Ile		D3GDV6|Q5THN5	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.R265I	ENST00000379491.4	37	c.794	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490628	0.64074	.	.	ENSG00000124827	ENST00000379491	T	0.72051	-0.62	5.5	4.64	0.57946	.	0.172925	0.64402	D	0.000015	T	0.63390	0.2507	M	0.76170	2.325	0.80722	D	1	P	0.49961	0.93	P	0.44860	0.462	T	0.70960	-0.4730	10	0.72032	D	0.01	-7.5825	11.6737	0.51417	0.0:0.8574:0.0:0.1426	.	265	O75603	GCM2_HUMAN	I	265	ENSP00000368805:R265I	ENSP00000368805:R265I	R	-	2	0	GCM2	10982941	0.952000	0.32445	0.999000	0.59377	0.667000	0.39255	2.240000	0.43088	1.465000	0.48006	-0.142000	0.14014	AGA	GCM2	-	NULL		0.453	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1	C			10874955	-1	no_errors	ENST00000379491	ensembl	human	known	70_37	missense	SNP	0.998	A
GDPD2	54857	genome.wustl.edu	37	X	69649620	69649620	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:69649620A>C	ENST00000374382.3	+	11	1409				GDPD2_ENST00000536730.1_Intron|GDPD2_ENST00000538649.1_Intron|GDPD2_ENST00000453994.2_Intron|GDPD2_ENST00000472623.1_3'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2						glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CATGATGATGAGGATGATTTT	0.587																																																	0																																										SO:0001627	intron_variant	54857			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1158+56A>C	X.37:g.69649620A>C			B4DRH4|B4DVC9|Q9NXJ6	RNA	SNP	-	NULL	ENST00000374382.3	37	NULL	CCDS14402.1	X																																																																																			GDPD2	-	-		0.587	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	HGNC	protein_coding	OTTHUMT00000057070.1	A	NM_017711		69649620	+1	no_errors	ENST00000472623	ensembl	human	known	70_37	rna	SNP	0.013	C
GGCX	2677	genome.wustl.edu	37	2	85777676	85777676	+	Splice_Site	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:85777676A>G	ENST00000233838.4	-	14	2165		c.e14+1		GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Splice_Site	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TTGTGAACTTACCTGCGGCGA	0.468																																																	0													47.0	50.0	49.0					2																	85777676		2203	4300	6503	SO:0001630	splice_region_variant	2677				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.2084+1T>C	2.37:g.85777676A>G			B4DMC5|E9PEE1|Q14415|Q6GU45	Splice_Site	SNP	-	e14+2	ENST00000233838.4	37	c.2084+2	CCDS1978.1	2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948124	0.73787	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0725	0.64868	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GGCX	85631187	1.000000	0.71417	0.927000	0.36925	0.697000	0.40408	7.753000	0.85153	2.205000	0.71048	0.533000	0.62120	.	GGCX	-	-		0.468	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	HGNC	protein_coding	OTTHUMT00000252490.3	A	NM_000821	Intron	85777676	-1	no_errors	ENST00000233838	ensembl	human	known	70_37	splice_site	SNP	0.997	G
GHR	2690	genome.wustl.edu	37	5	42719201	42719201	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:42719201A>G	ENST00000230882.4	+	10	1782	c.1592A>G	c.(1591-1593)gAc>gGc	p.D531G	GHR_ENST00000357703.3_Missense_Mutation_p.D509G|GHR_ENST00000537449.1_Missense_Mutation_p.D344G	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	531					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTCCTTATGGACAATGCCTAC	0.493																																																	0													91.0	82.0	85.0					5																	42719201		2203	4300	6503	SO:0001583	missense	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1592A>G	5.37:g.42719201A>G	ENSP00000230882:p.Asp531Gly		Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D531G	ENST00000230882.4	37	c.1592	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	A	16.25	3.071259	0.55646	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.36340	1.26;1.26;1.26	6.08	6.08	0.98989	.	0.124191	0.64402	D	0.000001	T	0.57770	0.2076	M	0.81682	2.555	0.58432	D	0.999997	P	0.45212	0.853	P	0.53722	0.733	T	0.61667	-0.7016	10	0.66056	D	0.02	-15.5929	16.6512	0.85203	1.0:0.0:0.0:0.0	.	531	P10912	GHR_HUMAN	G	531;509;344	ENSP00000230882:D531G;ENSP00000350335:D509G;ENSP00000442206:D344G	ENSP00000230882:D531G	D	+	2	0	GHR	42754958	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	5.096000	0.64535	2.333000	0.79357	0.482000	0.46254	GAC	GHR	-	NULL		0.493	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	A	NM_000163		42719201	+1	no_errors	ENST00000230882	ensembl	human	known	70_37	missense	SNP	1.000	G
GK2	2712	genome.wustl.edu	37	4	80328137	80328137	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:80328137C>A	ENST00000358842.3	-	1	1235	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTCCAAAATCTCTCGGGTTT	0.443																																																	0													122.0	115.0	118.0					4																	80328137		2203	4300	6503	SO:0001583	missense	2712			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1218G>T	4.37:g.80328137C>A	ENSP00000351706:p.Glu406Asp		Q7Z4Q4	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.E406D	ENST00000358842.3	37	c.1218	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468398	0.26335	.	.	ENSG00000196475	ENST00000358842	D	0.84516	-1.86	4.04	2.32	0.28847	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	N	0.00972	-1.085	0.51233	D	0.999918	D	0.89917	1.0	D	0.91635	0.999	T	0.69895	-0.5021	10	0.02654	T	1	-11.7393	6.2398	0.20785	0.0:0.7768:0.0:0.2232	.	406	Q14410	GLPK2_HUMAN	D	406	ENSP00000351706:E406D	ENSP00000351706:E406D	E	-	3	2	GK2	80547161	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.101000	0.41787	0.686000	0.31488	-0.225000	0.12378	GAG	GK2	-	pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin		0.443	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2	C	NM_033214		80328137	-1	no_errors	ENST00000358842	ensembl	human	known	70_37	missense	SNP	1.000	A
GLB1	2720	genome.wustl.edu	37	3	33109756	33109756	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:33109756C>A	ENST00000399402.3	-	4	464	c.333G>T	c.(331-333)gaG>gaT	p.E111D	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Missense_Mutation_p.E141D|GLB1_ENST00000445488.2_Missense_Mutation_p.E189D	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	141					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TAGACTCTTTCTCTAGCAGCC	0.463																																																	0													81.0	81.0	81.0					3																	33109756		1857	4089	5946	SO:0001583	missense	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.333G>T	3.37:g.33109756C>A	ENSP00000382333:p.Glu111Asp		B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.E189D	ENST00000399402.3	37	c.567	CCDS43062.1	3	.	.	.	.	.	.	.	.	.	.	C	10.39	1.338271	0.24253	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000440656	D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59	5.26	-0.106	0.13596	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.634360	0.17132	N	0.185790	D	0.92662	0.7668	N	0.20881	0.62	0.33052	D	0.532912	B;B;B	0.17667	0.023;0.023;0.023	B;B;B	0.19391	0.025;0.025;0.025	D	0.87123	0.2192	10	0.39692	T	0.17	-6.1129	6.3057	0.21137	0.0:0.4272:0.1227:0.4501	.	141;141;189	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	D	111;141;189;10	ENSP00000382333:E111D;ENSP00000306920:E141D;ENSP00000393377:E189D;ENSP00000411769:E10D	ENSP00000306920:E141D	E	-	3	2	GLB1	33084760	0.998000	0.40836	0.135000	0.22099	0.662000	0.39071	0.640000	0.24705	-0.071000	0.12886	-0.229000	0.12294	GAG	GLB1	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF		0.463	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	HGNC	protein_coding	OTTHUMT00000341570.2	C	NM_000404		33109756	-1	no_errors	ENST00000445488	ensembl	human	known	70_37	missense	SNP	0.562	A
GLDC	2731	genome.wustl.edu	37	9	6588650	6588650	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:6588650C>A	ENST00000321612.6	-	13	1783	c.1633G>T	c.(1633-1635)Gac>Tac	p.D545Y		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	545					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AGGGAAATGTCTTTATTTTCC	0.418																																																	0													149.0	129.0	136.0					9																	6588650		2203	4300	6503	SO:0001583	missense	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1633G>T	9.37:g.6588650C>A	ENSP00000370737:p.Asp545Tyr		Q2M2F8	Missense_Mutation	SNP	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo	p.D545Y	ENST00000321612.6	37	c.1633	CCDS34987.1	9	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439863	0.83885	.	.	ENSG00000178445	ENST00000321612	D	0.98090	-4.71	5.8	5.8	0.92144	Pyridoxal phosphate-dependent transferase, major domain (1);	0.089570	0.85682	D	0.000000	D	0.99010	0.9662	M	0.91818	3.245	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.99453	1.0941	10	0.87932	D	0	-31.4459	20.0563	0.97651	0.0:1.0:0.0:0.0	.	545	P23378	GCSP_HUMAN	Y	545	ENSP00000370737:D545Y	ENSP00000370737:D545Y	D	-	1	0	GLDC	6578650	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	7.270000	0.78493	2.746000	0.94184	0.563000	0.77884	GAC	GLDC	-	pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo		0.418	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	C	NM_000170		6588650	-1	no_errors	ENST00000321612	ensembl	human	known	70_37	missense	SNP	1.000	A
GLDN	342035	genome.wustl.edu	37	15	51689777	51689777	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:51689777T>C	ENST00000335449.6	+	6	855	c.799T>C	c.(799-801)Ttc>Ctc	p.F267L	GLDN_ENST00000396399.2_Missense_Mutation_p.F143L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	267					clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GCCAAGCATGTTCAACGGCCA	0.642																																																	0													34.0	43.0	40.0					15																	51689777		2196	4293	6489	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.799T>C	15.37:g.51689777T>C	ENSP00000335196:p.Phe267Leu		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.F267L	ENST00000335449.6	37	c.799	CCDS10140.2	15	.	.	.	.	.	.	.	.	.	.	T	15.13	2.741251	0.49151	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.93076	-3.16;-3.16	5.17	5.17	0.71159	.	0.000000	0.42964	D	0.000622	D	0.89805	0.6821	L	0.41236	1.265	0.44316	D	0.997192	B	0.13145	0.007	B	0.11329	0.006	D	0.86329	0.1697	10	0.41790	T	0.15	.	14.2026	0.65714	0.0:0.0:0.0:1.0	.	267	Q6ZMI3	GLDN_HUMAN	L	267;143;143	ENSP00000335196:F267L;ENSP00000379681:F143L	ENSP00000335196:F267L	F	+	1	0	GLDN	49477069	0.986000	0.35501	1.000000	0.80357	0.992000	0.81027	1.807000	0.38902	1.950000	0.56595	0.528000	0.53228	TTC	GLDN	-	NULL		0.642	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	HGNC	protein_coding	OTTHUMT00000254667.2	T	NM_181789		51689777	+1	no_errors	ENST00000335449	ensembl	human	known	70_37	missense	SNP	1.000	C
GLI2	2736	genome.wustl.edu	37	2	121708959	121708959	+	Missense_Mutation	SNP	C	C	A	rs369649251		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:121708959C>A	ENST00000452319.1	+	4	455	c.395C>A	c.(394-396)tCt>tAt	p.S132Y	GLI2_ENST00000361492.4_Missense_Mutation_p.S132Y|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TACCTCCGTTCTGTGCACAGC	0.672																																																	0								C	TYR/SER	0,4406		0,0,2203	55.0	56.0	55.0		395	5.2	0.1	2		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLI2	NM_005270.4	144	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	132/1587	121708959	1,13005	2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.395C>A	2.37:g.121708959C>A	ENSP00000390436:p.Ser132Tyr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S132Y	ENST00000452319.1	37	c.395	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.061895	0.93846	0.0	1.16E-4	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.56611	0.45;0.45	5.18	5.18	0.71444	.	0.057122	0.64402	D	0.000001	T	0.68293	0.2985	M	0.78801	2.425	0.80722	D	1	D;P;P	0.53151	0.958;0.924;0.623	P;P;B	0.53360	0.724;0.642;0.364	T	0.73385	-0.3999	10	0.87932	D	0	.	18.8922	0.92408	0.0:1.0:0.0:0.0	.	132;132;132	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	Y	132	ENSP00000390436:S132Y;ENSP00000354586:S132Y	ENSP00000354586:S132Y	S	+	2	0	GLI2	121425429	1.000000	0.71417	0.121000	0.21740	0.987000	0.75469	5.846000	0.69444	2.704000	0.92352	0.555000	0.69702	TCT	GLI2	-	NULL		0.672	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	C	NM_005270		121708959	+1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	0.999	A
GLI2	2736	genome.wustl.edu	37	2	121740398	121740398	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:121740398A>C	ENST00000452319.1	+	11	1685	c.1625A>C	c.(1624-1626)aAa>aCa	p.K542T	GLI2_ENST00000361492.4_Missense_Mutation_p.K542T|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.K214T					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGCTGCAACAAAGCCTTCTCC	0.637																																																	0													88.0	76.0	80.0					2																	121740398		2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1625A>C	2.37:g.121740398A>C	ENSP00000390436:p.Lys542Thr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K542T	ENST00000452319.1	37	c.1625	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770084	0.90108	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.27890	1.64;1.64;1.64	4.59	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.989	D;D;D;D;D	0.97110	0.999;0.999;0.998;1.0;0.948	T	0.65969	-0.6039	10	0.87932	D	0	.	14.4044	0.67071	1.0:0.0:0.0:0.0	.	542;525;197;197;214	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	T	542;542;214	ENSP00000390436:K542T;ENSP00000354586:K542T;ENSP00000312694:K214T	ENSP00000312694:K214T	K	+	2	0	GLI2	121456868	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.075000	0.94004	2.050000	0.60909	0.397000	0.26171	AAA	GLI2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	A	NM_005270		121740398	+1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	1.000	C
GLP1R	2740	genome.wustl.edu	37	6	39053697	39053697	+	Missense_Mutation	SNP	C	C	T	rs199796313		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:39053697C>T	ENST00000373256.4	+	13	1283	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	414					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)	p.R414W(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GCTGGAATTTCGGAAGAGCTG	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)											140.0	143.0	142.0					6																	39053697		2203	4300	6503	SO:0001583	missense	2740				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.1240C>T	6.37:g.39053697C>T	ENSP00000362353:p.Arg414Trp		Q2M229|Q99669	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.R414W	ENST00000373256.4	37	c.1240	CCDS4839.1	6	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102348	0.56183	.	.	ENSG00000112164	ENST00000373256	T	0.66460	-0.21	6.17	5.31	0.75309	.	0.000000	0.64402	D	0.000009	T	0.62159	0.2405	M	0.87381	2.88	0.50171	D	0.999851	B	0.16166	0.016	B	0.15870	0.014	T	0.67201	-0.5730	10	0.62326	D	0.03	.	15.8154	0.78595	0.0:0.9352:0.0:0.0648	.	414	P43220	GLP1R_HUMAN	W	414	ENSP00000362353:R414W	ENSP00000362353:R414W	R	+	1	2	GLP1R	39161675	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.456000	0.60081	1.633000	0.50488	-0.137000	0.14449	CGG	GLP1R	-	NULL		0.547	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	HGNC	protein_coding	OTTHUMT00000040443.1	C			39053697	+1	no_errors	ENST00000373256	ensembl	human	known	70_37	missense	SNP	1.000	T
GLRA1	2741	genome.wustl.edu	37	5	151208606	151208606	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:151208606T>C	ENST00000455880.2	-	8	1221	c.935A>G	c.(934-936)gAc>gGc	p.D312G	GLRA1_ENST00000545569.1_Missense_Mutation_p.D229G|GLRA1_ENST00000274576.4_Missense_Mutation_p.D312G			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	312					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCCAAATGTCAATGGCTTT	0.468																																																	0													99.0	93.0	95.0					5																	151208606		2203	4300	6503	SO:0001583	missense	2741				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.935A>G	5.37:g.151208606T>C	ENSP00000411593:p.Asp312Gly		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel	p.D312G	ENST00000455880.2	37	c.935	CCDS54942.1	5	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643239	0.87859	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.88124	-2.34;-2.34;-2.34	5.07	5.07	0.68467	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	M	0.93283	3.4	0.80722	D	1	P;P;P	0.39809	0.689;0.62;0.454	P;P;B	0.52710	0.707;0.639;0.419	D	0.95242	0.8352	10	0.87932	D	0	.	15.1386	0.72590	0.0:0.0:0.0:1.0	.	312;229;312	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	G	312;312;229	ENSP00000274576:D312G;ENSP00000411593:D312G;ENSP00000445913:D229G	ENSP00000274576:D312G	D	-	2	0	GLRA1	151188799	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.771000	0.85420	2.042000	0.60477	0.528000	0.53228	GAC	GLRA1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.468	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA1	HGNC	protein_coding	OTTHUMT00000373959.1	T			151208606	-1	no_errors	ENST00000455880	ensembl	human	known	70_37	missense	SNP	1.000	C
GLRA3	8001	genome.wustl.edu	37	4	175636664	175636664	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:175636664T>G	ENST00000274093.3	-	5	1051	c.549A>C	c.(547-549)caA>caC	p.Q183H	GLRA3_ENST00000340217.5_Missense_Mutation_p.Q183H	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	183					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	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)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTATACATGTTTGTACATCCA	0.284																																																	0													80.0	82.0	81.0					4																	175636664		2203	4294	6497	SO:0001583	missense	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.549A>C	4.37:g.175636664T>G	ENSP00000274093:p.Gln183His		D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.Q183H	ENST00000274093.3	37	c.549	CCDS3822.1	4	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761075	0.69763	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.84944	-1.92;-1.92	5.49	1.61	0.23674	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90031	0.6887	M	0.75777	2.31	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	D	0.88060	0.2793	10	0.87932	D	0	.	9.1518	0.36967	0.0:0.2171:0.0:0.7829	.	183;183	O75311-2;O75311	.;GLRA3_HUMAN	H	183	ENSP00000274093:Q183H;ENSP00000345284:Q183H	ENSP00000274093:Q183H	Q	-	3	2	GLRA3	175873239	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.710000	0.25748	0.055000	0.16094	0.528000	0.53228	CAA	GLRA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.284	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	T			175636664	-1	no_errors	ENST00000274093	ensembl	human	known	70_37	missense	SNP	1.000	G
GLT8D2	83468	genome.wustl.edu	37	12	104397061	104397061	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:104397061C>A	ENST00000360814.4	-	5	541	c.136G>T	c.(136-138)Gaa>Taa	p.E46*	GLT8D2_ENST00000546436.1_Nonsense_Mutation_p.E46*|GLT8D2_ENST00000548660.1_Nonsense_Mutation_p.E46*	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	46						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TCTTCCAGTTCTTCAGGAGTC	0.453																																																	0													173.0	148.0	157.0					12																	104397061		2203	4300	6503	SO:0001587	stop_gained	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.136G>T	12.37:g.104397061C>A	ENSP00000354053:p.Glu46*		Q96KA2	Nonsense_Mutation	SNP	pfam_Glyco_trans_8	p.E46*	ENST00000360814.4	37	c.136	CCDS9096.1	12	.	.	.	.	.	.	.	.	.	.	C	39	7.553465	0.98355	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	.	.	.	5.73	5.73	0.89815	.	0.149550	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	19.503	0.95104	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000354053:E46X	E	-	1	0	GLT8D2	102921191	1.000000	0.71417	0.955000	0.39395	0.801000	0.45260	5.269000	0.65542	2.709000	0.92574	0.563000	0.77884	GAA	GLT8D2	-	NULL		0.453	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D2	HGNC	protein_coding	OTTHUMT00000407371.1	C	NM_031302		104397061	-1	no_errors	ENST00000360814	ensembl	human	known	70_37	nonsense	SNP	1.000	A
GLT1D1	144423	genome.wustl.edu	37	12	129373190	129373190	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:129373190G>A	ENST00000442111.2	+	3	312	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Missense_Mutation_p.R75Q|GLT1D1_ENST00000537468.1_Missense_Mutation_p.R64Q			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	75					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCAGGCCACCGAATCCCTTTT	0.463																																																	0													104.0	92.0	96.0					12																	129373190		2203	4300	6503	SO:0001583	missense	144423				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.224G>A	12.37:g.129373190G>A	ENSP00000394692:p.Arg75Gln		Q86XG8	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.R75Q	ENST00000442111.2	37	c.224		12	.	.	.	.	.	.	.	.	.	.	G	6.844	0.524938	0.13066	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.80123	-1.34;0.91;-1.34	5.4	0.373	0.16178	.	0.898097	0.09762	N	0.759084	T	0.70185	0.3195	L	0.43152	1.355	0.09310	N	0.999996	B;B	0.20887	0.049;0.001	B;B	0.12156	0.007;0.003	T	0.50524	-0.8818	10	0.13470	T	0.59	0.317	10.0805	0.42386	0.3368:0.0:0.6632:0.0	.	64;75	F5H088;Q96MS3-2	.;.	Q	75;75;64	ENSP00000394692:R75Q;ENSP00000281703:R75Q;ENSP00000438158:R64Q	ENSP00000281703:R75Q	R	+	2	0	GLT1D1	127939143	0.061000	0.20836	0.000000	0.03702	0.049000	0.14656	1.104000	0.31074	0.022000	0.15160	-0.127000	0.14921	CGA	GLT1D1	-	NULL		0.463	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	HGNC	protein_coding	OTTHUMT00000399740.1	G	NM_144669		129373190	+1	no_errors	ENST00000442111	ensembl	human	known	70_37	missense	SNP	0.000	A
GLUD2	2747	genome.wustl.edu	37	X	120182121	120182121	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:120182121G>A	ENST00000328078.1	+	1	660	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	195					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GAACTATACCGAAAATGAATT	0.458																																																	0													122.0	96.0	105.0					X																	120182121		2203	4300	6503	SO:0001583	missense	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.583G>A	X.37:g.120182121G>A	ENSP00000327589:p.Glu195Lys		B2R8G0|Q9UDQ4	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.E195K	ENST00000328078.1	37	c.583	CCDS14603.1	X	.	.	.	.	.	.	.	.	.	.	G	5.893	0.348941	0.11126	.	.	ENSG00000182890	ENST00000328078	D	0.96491	-4.03	1.35	0.348	0.16026	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.146062	0.64402	D	0.000012	D	0.89969	0.6869	L	0.31420	0.93	0.23685	N	0.997112	B	0.21821	0.061	B	0.19946	0.027	T	0.79252	-0.1880	10	0.26408	T	0.33	-3.7222	5.0223	0.14367	0.0:0.3779:0.6221:0.0	.	195	P49448	DHE4_HUMAN	K	195	ENSP00000327589:E195K	ENSP00000327589:E195K	E	+	1	0	GLUD2	120009802	0.996000	0.38824	0.003000	0.11579	0.196000	0.23810	3.414000	0.52693	0.061000	0.16311	0.472000	0.43445	GAA	GLUD2	-	pfam_Glu/Leu/Phe/Val_DH_dimer_dom		0.458	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	HGNC	protein_coding	OTTHUMT00000058133.1	G	NM_012084		120182121	+1	no_errors	ENST00000328078	ensembl	human	known	70_37	missense	SNP	0.986	A
GLYATL1	92292	genome.wustl.edu	37	11	58723127	58723127	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:58723127C>T	ENST00000317391.4	+	8	876	c.536C>T	c.(535-537)tCt>tTt	p.S179F	GLYATL1_ENST00000300079.5_Missense_Mutation_p.S210F|RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	179						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GTCTCTTATTCTGGGCTGGTA	0.463																																																	0													69.0	68.0	68.0					11																	58723127		2201	4295	6496	SO:0001583	missense	92292			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.536C>T	11.37:g.58723127C>T	ENSP00000322223:p.Ser179Phe		A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	p.S210F	ENST00000317391.4	37	c.629	CCDS55768.1	11	.	.	.	.	.	.	.	.	.	.	.	12.93	2.084886	0.36758	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.15718	2.4;2.4	2.77	1.83	0.25207	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	1.075590	0.07396	U	0.889952	T	0.26484	0.0647	L	0.40543	1.245	0.09310	N	1	D;D	0.54601	0.96;0.967	P;P	0.57846	0.736;0.828	T	0.19647	-1.0299	10	0.87932	D	0	.	6.628	0.22841	0.2841:0.7159:0.0:0.0	.	210;179	Q969I3-2;Q969I3	.;GLYL1_HUMAN	F	156;179;210	ENSP00000322223:S179F;ENSP00000300079:S210F	ENSP00000300079:S210F	S	+	2	0	GLYATL1	58479703	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.863000	0.27913	0.338000	0.23692	0.411000	0.27672	TCT	GLYATL1	-	pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase		0.463	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYATL1	HGNC	protein_coding	OTTHUMT00000393783.1	C	NM_080661		58723127	+1	no_errors	ENST00000300079	ensembl	human	known	70_37	missense	SNP	0.001	T
GLYR1	84656	genome.wustl.edu	37	16	4861208	4861208	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:4861208A>C	ENST00000321919.9	-	15	1626	c.1550T>G	c.(1549-1551)gTc>gGc	p.V517G	GLYR1_ENST00000436648.5_Missense_Mutation_p.V436G|GLYR1_ENST00000591451.1_Missense_Mutation_p.V511G|GLYR1_ENST00000381983.3_Missense_Mutation_p.V500G	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	517					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CGGATGGTTGACCGCATCACC	0.458																																																	0													133.0	124.0	127.0					16																	4861208		2197	4300	6497	SO:0001583	missense	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1550T>G	16.37:g.4861208A>C	ENSP00000322716:p.Val517Gly		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.V517G	ENST00000321919.9	37	c.1550	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	A	12.25	1.882446	0.33255	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.32023	1.47;1.47;1.47	5.72	5.72	0.89469	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.055471	0.64402	D	0.000001	T	0.31104	0.0786	M	0.64997	1.995	0.80722	D	1	B;P;B;P	0.41313	0.135;0.745;0.182;0.613	B;B;B;B	0.33121	0.049;0.158;0.071;0.099	T	0.23084	-1.0198	10	0.87932	D	0	-22.4547	14.971	0.71235	1.0:0.0:0.0:0.0	.	436;511;500;517	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	G	517;500;436	ENSP00000322716:V517G;ENSP00000371413:V500G;ENSP00000390276:V436G	ENSP00000322716:V517G	V	-	2	0	GLYR1	4801209	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	6.158000	0.71851	2.180000	0.69256	0.459000	0.35465	GTC	GLYR1	-	superfamily_6-PGluconate_DH_C-like		0.458	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	A	NM_032569		4861208	-1	no_errors	ENST00000321919	ensembl	human	known	70_37	missense	SNP	1.000	C
GMEB1	10691	genome.wustl.edu	37	1	29018110	29018110	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:29018110A>C	ENST00000294409.2	+	4	345	c.255A>C	c.(253-255)atA>atC	p.I85I	GMEB1_ENST00000361872.4_Silent_p.I75I|SCARNA24_ENST00000516968.1_RNA|GMEB1_ENST00000373816.1_Silent_p.I75I|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	85	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGCACTATAGAAGCAAATG	0.388																																																	0													100.0	94.0	96.0					1																	29018110		2203	4300	6503	SO:0001819	synonymous_variant	10691			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.255A>C	1.37:g.29018110A>C			B1AT48|Q9NWH1|Q9UKD0	Silent	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	p.I85	ENST00000294409.2	37	c.255	CCDS327.1	1																																																																																			GMEB1	-	pfscan_SAND_dom		0.388	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	A	NM_006582		29018110	+1	no_errors	ENST00000294409	ensembl	human	known	70_37	silent	SNP	0.997	C
GMIP	51291	genome.wustl.edu	37	19	19745468	19745468	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:19745468G>T	ENST00000203556.4	-	18	2069	c.1932C>A	c.(1930-1932)atC>atA	p.I644I	GMIP_ENST00000587238.1_Silent_p.I618I|GMIP_ENST00000586269.1_Intron|GMIP_ENST00000445806.2_Silent_p.I615I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	644	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TAGCCAGAGAGATGAAGGCGT	0.647																																																	0													143.0	145.0	144.0					19																	19745468		2203	4300	6503	SO:0001819	synonymous_variant	51291			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1932C>A	19.37:g.19745468G>T			A0AVN9|B7ZLZ0	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.I644	ENST00000203556.4	37	c.1932	CCDS12408.1	19																																																																																			GMIP	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.647	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	G	NM_016573		19745468	-1	no_errors	ENST00000203556	ensembl	human	known	70_37	silent	SNP	0.998	T
GMNN	51053	genome.wustl.edu	37	6	24777516	24777516	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:24777516G>T	ENST00000230056.3	+	2	374	c.42G>T	c.(40-42)gaG>gaT	p.E14D	GMNN_ENST00000356509.3_Missense_Mutation_p.E14D	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	14					mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						AAATCAAAGAGAATATAAAGG	0.313																																																	0													46.0	45.0	45.0					6																	24777516		2199	4294	6493	SO:0001583	missense	51053			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.42G>T	6.37:g.24777516G>T	ENSP00000230056:p.Glu14Asp		B3KMM8|Q9H1Z1	Missense_Mutation	SNP	pfam_Geminin_fam	p.E14D	ENST00000230056.3	37	c.42	CCDS4560.1	6	.	.	.	.	.	.	.	.	.	.	G	6.470	0.454840	0.12283	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000476555;ENST00000378059	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	5.16	1.32	0.21799	.	0.440966	0.26133	N	0.026144	T	0.04092	0.0114	L	0.37630	1.12	0.23492	N	0.997569	P	0.35468	0.503	B	0.34652	0.187	T	0.37776	-0.9691	10	0.30854	T	0.27	-3.0637	7.6607	0.28402	0.3751:0.0:0.6249:0.0	.	14	O75496	GEMI_HUMAN	D	14	ENSP00000348902:E14D;ENSP00000230056:E14D;ENSP00000367293:E14D;ENSP00000419584:E14D;ENSP00000367298:E14D	ENSP00000230056:E14D	E	+	3	2	GMNN	24885495	0.554000	0.26522	0.692000	0.30179	0.051000	0.14879	0.295000	0.19065	0.277000	0.22141	-0.218000	0.12543	GAG	GMNN	-	pfam_Geminin_fam		0.313	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMNN	HGNC	protein_coding	OTTHUMT00000040021.2	G	NM_015895		24777516	+1	no_errors	ENST00000230056	ensembl	human	known	70_37	missense	SNP	0.474	T
GNAL	2774	genome.wustl.edu	37	18	11876657	11876657	+	Missense_Mutation	SNP	A	A	C	rs111984202		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:11876657A>C	ENST00000423027.3	+	11	1290	c.969A>C	c.(967-969)agA>agC	p.R323S	GNAL_ENST00000602628.1_Missense_Mutation_p.R116S|GNAL_ENST00000269162.5_Missense_Mutation_p.R323S|GNAL_ENST00000535121.1_Missense_Mutation_p.R323S|GNAL_ENST00000334049.6_Missense_Mutation_p.R400S			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	323					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAGTTACAAGAGCCAAGTTCT	0.348																																																	0													158.0	142.0	148.0					18																	11876657		2203	4300	6503	SO:0001583	missense	2774			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.969A>C	18.37:g.11876657A>C	ENSP00000408489:p.Arg323Ser		B7ZA26|Q86XU3	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S	p.R400S	ENST00000423027.3	37	c.1200	CCDS11852.1	18	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792820	0.50102	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.88	2.29	0.28610	.	0.041393	0.85682	D	0.000000	D	0.89203	0.6648	L	0.47716	1.5	0.80722	D	1	D;P	0.76494	0.999;0.888	D;P	0.70016	0.967;0.555	D	0.87777	0.2609	10	0.72032	D	0.01	.	9.5723	0.39436	0.7419:0.0:0.2581:0.0	.	323;400	P38405;Q86XU3	GNAL_HUMAN;.	S	262;400;323;323;323;116	ENSP00000334051:R400S;ENSP00000439023:R323S;ENSP00000269162:R323S;ENSP00000408489:R323S	ENSP00000269162:R323S	R	+	3	2	GNAL	11866657	1.000000	0.71417	0.980000	0.43619	0.975000	0.68041	2.330000	0.43885	0.498000	0.27948	0.528000	0.53228	AGA	GNAL	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S		0.348	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAL	HGNC	protein_coding	OTTHUMT00000254561.2	A	NM_182978, NM_002071		11876657	+1	no_errors	ENST00000334049	ensembl	human	known	70_37	missense	SNP	1.000	C
GNAT1	2779	genome.wustl.edu	37	3	50232331	50232331	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:50232331C>T	ENST00000433068.1	+	8	1052	c.996C>T	c.(994-996)ttC>ttT	p.F332F	GNAT1_ENST00000232461.3_Silent_p.F332F	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	332					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AATTTGTCTTCGACGCTGTCA	0.552											OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													96.0	78.0	84.0					3																	50232331		2203	4300	6503	SO:0001819	synonymous_variant	2779				CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.996C>T	3.37:g.50232331C>T		968	Q4VBN2	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.F332	ENST00000433068.1	37	c.996	CCDS2812.1	3																																																																																			GNAT1	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su		0.552	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GNAT1	HGNC	protein_coding	OTTHUMT00000345957.1	C	NM_000172		50232331	+1	no_errors	ENST00000232461	ensembl	human	known	70_37	silent	SNP	0.999	T
GNGT1	2792	genome.wustl.edu	37	7	93540184	93540184	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:93540184A>G	ENST00000248572.5	+	3	327	c.179A>G	c.(178-180)gAc>gGc	p.D60G	GNGT1_ENST00000429473.1_Missense_Mutation_p.D60G|GNGT1_ENST00000455502.1_3'UTR	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	60					cardiac muscle cell apoptotic process (GO:0010659)|cellular response to hypoxia (GO:0071456)|eye photoreceptor cell development (GO:0042462)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATCCCAGAGGACAAAAATCCC	0.368																																																	0													72.0	70.0	70.0					7																	93540184		2203	4300	6503	SO:0001583	missense	2792				CCDS5633.1	7q21.3	2008-07-18			ENSG00000127928	ENSG00000127928			4411	protein-coding gene	gene with protein product		189970				8661128	Standard	NM_021955		Approved	GNG1	uc003unc.1	P63211	OTTHUMG00000022908	ENST00000248572.5:c.179A>G	7.37:g.93540184A>G	ENSP00000248572:p.Asp60Gly		A4D1H2|O43835|Q08447|Q16026|Q6LCP6	Missense_Mutation	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	p.D60G	ENST00000248572.5	37	c.179	CCDS5633.1	7	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486895	0.84854	.	.	ENSG00000127928	ENST00000248572;ENST00000429473	T;T	0.19105	2.17;2.17	5.75	5.75	0.90469	G-protein gamma domain (5);	0.161592	0.53938	D	0.000059	T	0.30039	0.0752	.	.	.	0.80722	D	1	P	0.45348	0.856	P	0.47673	0.554	T	0.01232	-1.1411	9	0.42905	T	0.14	-22.5007	15.3473	0.74350	1.0:0.0:0.0:0.0	.	60	P63211	GBG1_HUMAN	G	60	ENSP00000248572:D60G;ENSP00000388777:D60G	ENSP00000248572:D60G	D	+	2	0	GNGT1	93378120	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	8.122000	0.89584	2.326000	0.78906	0.533000	0.62120	GAC	GNGT1	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma		0.368	GNGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNGT1	HGNC	protein_coding	OTTHUMT00000254718.2	A	NM_021955		93540184	+1	no_errors	ENST00000248572	ensembl	human	known	70_37	missense	SNP	1.000	G
GNB2	2783	genome.wustl.edu	37	7	100276365	100276365	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:100276365G>A	ENST00000303210.4	+	10	1446	c.964G>A	c.(964-966)Gac>Aac	p.D322N	GNB2_ENST00000427895.1_Missense_Mutation_p.D222N|GNB2_ENST00000419828.1_Missense_Mutation_p.D222N|GNB2_ENST00000436220.1_Missense_Mutation_p.D278N|GNB2_ENST00000393924.1_Missense_Mutation_p.D322N|GNB2_ENST00000424361.1_Missense_Mutation_p.D278N|GNB2_ENST00000393926.1_Missense_Mutation_p.D322N	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	322					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CGGGGTCACCGACGATGGCAT	0.657																																																	0													60.0	63.0	62.0					7																	100276365		2203	4300	6503	SO:0001583	missense	2783			M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.964G>A	7.37:g.100276365G>A	ENSP00000305260:p.Asp322Asn		B3KPU1|P11016|P54312	Missense_Mutation	SNP	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D322N	ENST00000303210.4	37	c.964	CCDS5703.1	7	.	.	.	.	.	.	.	.	.	.	.	10.23	1.292244	0.23564	.	.	ENSG00000172354	ENST00000303210;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.21	5.21	0.72293	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	0.45034	0.1322	N	0.20357	0.565	0.46798	D	0.999204	B	0.30114	0.269	B	0.32624	0.149	T	0.34054	-0.9844	10	0.27082	T	0.32	-12.9148	16.3616	0.83270	0.0:0.0:1.0:0.0	.	322	P62879	GBB2_HUMAN	N	322;278;278;222;222;322;322	ENSP00000305260:D322N;ENSP00000401873:D278N;ENSP00000389391:D278N;ENSP00000390543:D222N;ENSP00000400286:D222N;ENSP00000377503:D322N;ENSP00000377501:D322N	ENSP00000305260:D322N	D	+	1	0	GNB2	100114301	0.927000	0.31430	0.994000	0.49952	0.841000	0.47740	4.387000	0.59626	2.729000	0.93468	0.555000	0.69702	GAC	GNB2	-	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.657	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB2	HGNC	protein_coding	OTTHUMT00000268391.2	G	NM_005273		100276365	+1	no_errors	ENST00000303210	ensembl	human	known	70_37	missense	SNP	0.972	A
GNPTAB	79158	genome.wustl.edu	37	12	102164324	102164324	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:102164324C>A	ENST00000299314.7	-	9	1235	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	GNPTAB_ENST00000549940.1_Missense_Mutation_p.D325Y|RP11-511H9.3_ENST00000600133.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	325					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCTTCGTTATCTTCAAAACGA	0.448																																																	0													72.0	63.0	66.0					12																	102164324		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.973G>T	12.37:g.102164324C>A	ENSP00000299314:p.Asp325Tyr		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.D325Y	ENST00000299314.7	37	c.973	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918367	0.92249	.	.	ENSG00000111670	ENST00000299314;ENST00000549940	D;D	0.90620	-2.7;-2.7	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.97081	0.9046	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.97744	1.0210	10	0.87932	D	0	-28.9804	19.8506	0.96738	0.0:1.0:0.0:0.0	.	325;325	Q3T906-2;Q3T906	.;GNPTA_HUMAN	Y	325	ENSP00000299314:D325Y;ENSP00000449150:D325Y	ENSP00000299314:D325Y	D	-	1	0	GNPTAB	100688455	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.395000	0.79876	2.686000	0.91538	0.655000	0.94253	GAT	GNPTAB	-	pfam_DUF3184		0.448	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	C			102164324	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	1.000	A
GOLGA3	2802	genome.wustl.edu	37	12	133372579	133372579	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:133372579G>T	ENST00000450791.2	-	10	2511	c.2328C>A	c.(2326-2328)atC>atA	p.I776I	GOLGA3_ENST00000537452.1_Silent_p.I776I|GOLGA3_ENST00000204726.3_Silent_p.I776I|GOLGA3_ENST00000545875.1_Silent_p.I776I|GOLGA3_ENST00000456883.2_Silent_p.I776I			Q08378	GOGA3_HUMAN	golgin A3	776					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCTCCAAGATGATCTTCTCGT	0.602																																																	0													58.0	58.0	58.0					12																	133372579		2203	4300	6503	SO:0001819	synonymous_variant	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2328C>A	12.37:g.133372579G>T			A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	superfamily_Prefoldin	p.I776	ENST00000450791.2	37	c.2328	CCDS9281.1	12																																																																																			GOLGA3	-	NULL		0.602	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	G	NM_005895		133372579	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	silent	SNP	0.176	T
GOLGA4	2803	genome.wustl.edu	37	3	37367213	37367213	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:37367213G>A	ENST00000361924.2	+	14	4210	c.3836G>A	c.(3835-3837)aGa>aAa	p.R1279K	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1301K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1279	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCACAACTTAGACAGTTGACA	0.343																																																	0													52.0	54.0	53.0					3																	37367213		2168	4285	6453	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3836G>A	3.37:g.37367213G>A	ENSP00000354486:p.Arg1279Lys		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.R1279K	ENST00000361924.2	37	c.3836	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	1.136	-0.651091	0.03506	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23348	1.91;1.92;1.92	5.2	-0.0482	0.13840	.	0.198923	0.25151	N	0.032760	T	0.19485	0.0468	M	0.62723	1.935	0.09310	N	1	B;B;B;B	0.20052	0.041;0.019;0.019;0.011	B;B;B;B	0.17722	0.011;0.011;0.019;0.009	T	0.34725	-0.9817	10	0.12430	T	0.62	.	6.4964	0.22144	0.2859:0.3205:0.3936:0.0	.	1279;1279;1301;1279	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	1279;1301;1150	ENSP00000354486:R1279K;ENSP00000349305:R1301K;ENSP00000405842:R1150K	ENSP00000349305:R1301K	R	+	2	0	GOLGA4	37342217	0.000000	0.05858	0.665000	0.29768	0.227000	0.25037	-0.664000	0.05292	-0.236000	0.09753	0.563000	0.77884	AGA	GOLGA4	-	NULL		0.343	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	G	NM_002078		37367213	+1	no_errors	ENST00000361924	ensembl	human	known	70_37	missense	SNP	0.036	A
GOLGA6L6	727832	genome.wustl.edu	37	15	20739623	20739623	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:20739623C>G	ENST00000427390.2	-	8	2217	c.2127G>C	c.(2125-2127)gaG>gaC	p.E709D		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	709	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						acatcttctcctcctgctccc	0.542																																																	0													2.0	3.0	3.0					15																	20739623		535	1275	1810	SO:0001583	missense	727832			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.2127G>C	15.37:g.20739623C>G	ENSP00000398615:p.Glu709Asp		D3YTC0	Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.E709D	ENST00000427390.2	37	c.2127	CCDS45184.1	15	.	.	.	.	.	.	.	.	.	.	C	3.345	-0.133875	0.06711	.	.	ENSG00000215405	ENST00000427390	T	0.10573	2.86	.	.	.	.	.	.	.	.	T	0.15782	0.0380	L	0.46157	1.445	0.09310	N	0.999999	P	0.49696	0.927	P	0.56563	0.801	T	0.20638	-1.0269	8	0.27082	T	0.32	.	5.9503	0.19242	0.0:0.9994:0.0:6.0E-4	.	709	A8MZA4	GG6L6_HUMAN	D	709	ENSP00000398615:E709D	ENSP00000398615:E709D	E	-	3	2	GOLGA6L6	18999637	0.000000	0.05858	0.037000	0.18230	0.037000	0.13140	0.314000	0.19432	0.159000	0.19401	0.162000	0.16502	GAG	GOLGA6L6	-	NULL		0.542	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	C	NM_001145004		20739623	-1	no_errors	ENST00000427390	ensembl	human	known	70_37	missense	SNP	0.984	G
GOLGA8EP	390535	genome.wustl.edu	37	15	23445307	23445307	+	RNA	SNP	G	G	A	rs536085624		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:23445307G>A	ENST00000526079.1	+	0	2127				AC100757.1_ENST00000458911.1_RNA|RN7SL106P_ENST00000488468.2_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		CACTGACAGCGTGGAGCCTGT	0.647													g|||	1	0.000199681	0.0008	0.0	5008	,	,		25636	0.0		0.0	False		,,,				2504	0.0																0													4.0	4.0	4.0					15																	23445307		1242	3045	4287			390535					15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23445307G>A				RNA	SNP	-	NULL	ENST00000526079.1	37	NULL		15																																																																																			GOLGA8EP	-	-		0.647	GOLGA8EP-002	KNOWN	basic	processed_transcript	GOLGA8EP	HGNC	pseudogene	OTTHUMT00000393312.1	G	NR_033350.1		23445307	+1	no_errors	ENST00000526079	ensembl	human	known	70_37	rna	SNP	0.015	A
GOLGA8J	653073	genome.wustl.edu	37	15	30376974	30376974	+	Splice_Site	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:30376974T>C	ENST00000567927.1	+	2	49	c.49T>C	c.(49-51)Tta>Cta	p.L17L	GOLGA8J_ENST00000341650.6_5'UTR|GOLGA8J_ENST00000568123.1_3'UTR			A6NMD2	GOG8J_HUMAN	golgin A8 family, member J	17						Golgi apparatus (GO:0005794)											TTTCCAACAGTTAAAAGAATA	0.438																																																	0																																										SO:0001630	splice_region_variant	653073				CCDS61574.1	15q13.2	2012-10-05			ENSG00000179938	ENSG00000179938			38650	protein-coding gene	gene with protein product							Standard	NM_001282472		Approved			A6NMD2	OTTHUMG00000175635	ENST00000567927.1:c.49-1T>C	15.37:g.30376974T>C			H3BRU0	Silent	SNP	NULL	p.L17	ENST00000567927.1	37	c.49		15																																																																																			GOLGA8J	-	NULL		0.438	GOLGA8J-001	NOVEL	basic|appris_candidate_longest	protein_coding	GOLGA8J	HGNC	protein_coding	OTTHUMT00000430682.1	T	XM_001724382	Silent	30376974	+1	no_errors	ENST00000567927	ensembl	human	novel	70_37	silent	SNP	0.007	C
GOLGA8J	653073	genome.wustl.edu	37	15	30381186	30381186	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:30381186A>G	ENST00000567927.1	+	10	729	c.729A>G	c.(727-729)gaA>gaG	p.E243E	GOLGA8J_ENST00000341650.6_Silent_p.E56E|RN7SL673P_ENST00000473279.2_RNA			A6NMD2	GOG8J_HUMAN	golgin A8 family, member J	243						Golgi apparatus (GO:0005794)											AGTATTCTGAACATCTAAAAG	0.488																																																	0																																										SO:0001819	synonymous_variant	653073				CCDS61574.1	15q13.2	2012-10-05			ENSG00000179938	ENSG00000179938			38650	protein-coding gene	gene with protein product							Standard	NM_001282472		Approved			A6NMD2	OTTHUMG00000175635	ENST00000567927.1:c.729A>G	15.37:g.30381186A>G			H3BRU0	Silent	SNP	NULL	p.E56	ENST00000567927.1	37	c.168		15																																																																																			GOLGA8J	-	NULL		0.488	GOLGA8J-001	NOVEL	basic|appris_candidate_longest	protein_coding	GOLGA8J	HGNC	protein_coding	OTTHUMT00000430682.1	A	XM_001724382		30381186	+1	no_errors	ENST00000341650	ensembl	human	known	70_37	silent	SNP	0.000	G
GOLGB1	2804	genome.wustl.edu	37	3	121409629	121409629	+	Missense_Mutation	SNP	C	C	T	rs529043980		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:121409629C>T	ENST00000340645.5	-	14	8692	c.8567G>A	c.(8566-8568)cGa>cAa	p.R2856Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R2861Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2856					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTGACTTTCGAAATTTCTC	0.458																																																	0													62.0	60.0	61.0					3																	121409629		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8567G>A	3.37:g.121409629C>T	ENSP00000341848:p.Arg2856Gln		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.R2856Q	ENST00000340645.5	37	c.8567	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375656	0.42105	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.17370	2.28;2.28	5.3	4.43	0.53597	.	0.000000	0.64402	D	0.000017	T	0.23014	0.0556	L	0.29908	0.895	0.38707	D	0.953125	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.83275	0.996;0.602;0.992	T	0.15723	-1.0427	10	0.14252	T	0.57	.	7.4073	0.26998	0.0:0.7441:0.1681:0.0878	.	2861;2861;2856	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Q	2856;2861	ENSP00000341848:R2856Q;ENSP00000377275:R2861Q	ENSP00000341848:R2856Q	R	-	2	0	GOLGB1	122892319	0.719000	0.27986	0.993000	0.49108	0.985000	0.73830	1.472000	0.35376	1.473000	0.48159	0.655000	0.94253	CGA	GOLGB1	-	superfamily_STAT_TF_coiled-coil		0.458	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121409629	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.998	T
GOLGB1	2804	genome.wustl.edu	37	3	121413301	121413301	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:121413301T>C	ENST00000340645.5	-	13	6179	c.6054A>G	c.(6052-6054)caA>caG	p.Q2018Q	GOLGB1_ENST00000393667.3_Silent_p.Q2023Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2018					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTACTTCTTGTTGTTTTTCTT	0.363																																																	0													148.0	152.0	150.0					3																	121413301		2203	4299	6502	SO:0001819	synonymous_variant	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6054A>G	3.37:g.121413301T>C			B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.Q2018	ENST00000340645.5	37	c.6054	CCDS3004.1	3																																																																																			GOLGB1	-	superfamily_Prefoldin		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	T	NM_004487		121413301	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	silent	SNP	0.821	C
GPAM	57678	genome.wustl.edu	37	10	113928264	113928264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:113928264G>A	ENST00000348367.4	-	11	1110	c.913C>T	c.(913-915)Cga>Tga	p.R305*	GPAM_ENST00000369425.1_Nonsense_Mutation_p.R305*|GPAM_ENST00000423155.1_Nonsense_Mutation_p.R305*			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	305					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGCTGCTGTCGAAGTAATTCA	0.393																																					Ovarian(161;1017 2606 18293 52943)												0													84.0	80.0	82.0					10																	113928264		2203	4300	6503	SO:0001587	stop_gained	57678			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.913C>T	10.37:g.113928264G>A	ENSP00000265276:p.Arg305*		Q5VW51|Q86TA3	Nonsense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.R305*	ENST00000348367.4	37	c.913	CCDS7570.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.310855	0.98203	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	.	.	.	5.33	5.33	0.75918	.	0.165129	0.38837	N	0.001556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-9.3812	8.4369	0.32793	0.0794:0.0:0.7557:0.1649	.	.	.	.	X	305	.	ENSP00000265276:R305X	R	-	1	2	GPAM	113918254	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	2.409000	0.44583	2.506000	0.84524	0.637000	0.83480	CGA	GPAM	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase		0.393	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAM	HGNC	protein_coding	OTTHUMT00000050377.1	G	NM_020918		113928264	-1	no_errors	ENST00000348367	ensembl	human	known	70_37	nonsense	SNP	1.000	A
GPAT2	150763	genome.wustl.edu	37	2	96698050	96698050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:96698050G>A	ENST00000434632.1	-	3	517	c.58C>T	c.(58-60)Cga>Tga	p.R20*	GPAT2_ENST00000359548.4_Nonsense_Mutation_p.R20*|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.R20*|GPAT2_ENST00000377137.3_Nonsense_Mutation_p.R20*|GPAT2_ENST00000488515.1_5'Flank			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	20					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						ATTACCTCTCGGCCACTGGGG	0.572																																																	0													34.0	39.0	38.0					2																	96698050		1892	3966	5858	SO:0001587	stop_gained	150763			BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.58C>T	2.37:g.96698050G>A	ENSP00000389395:p.Arg20*		Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Nonsense_Mutation	SNP	smart_Plipid/glycerol_acylTrfase	p.R20*	ENST00000434632.1	37	c.58	CCDS42714.1	2	.	.	.	.	.	.	.	.	.	.	G	8.883	0.952179	0.18431	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137;ENST00000439254	.	.	.	3.62	2.74	0.32292	.	1.148190	0.06517	N	0.738951	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	7.1488	0.25597	0.1226:0.0:0.8774:0.0	.	.	.	.	X	20	.	ENSP00000352547:R20X	R	-	1	2	GPAT2	96061777	0.298000	0.24417	0.011000	0.14972	0.042000	0.13812	4.232000	0.58645	1.129000	0.42072	0.444000	0.29173	CGA	GPAT2	-	NULL		0.572	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAT2	HGNC	protein_coding	OTTHUMT00000338786.1	G	NM_207328		96698050	-1	no_errors	ENST00000359548	ensembl	human	known	70_37	nonsense	SNP	0.012	A
GPATCH1	55094	genome.wustl.edu	37	19	33617532	33617532	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:33617532A>C	ENST00000170564.2	+	19	2972	c.2658A>C	c.(2656-2658)caA>caC	p.Q886H		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	886					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AAGGCAAGCAAAAGAATAAAA	0.438											OREG0025410	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(67;88 1713 4567 18227)												0													78.0	75.0	76.0					19																	33617532		2203	4300	6503	SO:0001583	missense	55094			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2658A>C	19.37:g.33617532A>C	ENSP00000170564:p.Gln886His	841	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.Q886H	ENST00000170564.2	37	c.2658	CCDS12428.1	19	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550282	0.27739	.	.	ENSG00000076650	ENST00000170564	T	0.11821	2.74	4.31	-1.82	0.07857	.	0.329111	0.32314	N	0.006279	T	0.05410	0.0143	N	0.20401	0.57	0.33380	D	0.574745	B;B	0.15719	0.014;0.001	B;B	0.12156	0.007;0.002	T	0.30475	-0.9977	10	0.16896	T	0.51	-15.7357	2.2979	0.04154	0.2493:0.2172:0.3993:0.1341	.	886;886	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	H	886	ENSP00000170564:Q886H	ENSP00000170564:Q886H	Q	+	3	2	GPATCH1	38309372	0.992000	0.36948	0.998000	0.56505	0.884000	0.51177	0.103000	0.15292	-0.078000	0.12730	0.378000	0.23410	CAA	GPATCH1	-	NULL		0.438	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	HGNC	protein_coding	OTTHUMT00000450834.1	A	NM_018025		33617532	+1	no_errors	ENST00000170564	ensembl	human	known	70_37	missense	SNP	0.975	C
GPBP1	65056	genome.wustl.edu	37	5	56542249	56542249	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:56542249A>C	ENST00000506184.2	+	7	1706	c.601A>C	c.(601-603)Aat>Cat	p.N201H	GPBP1_ENST00000264779.6_Missense_Mutation_p.N208H|GPBP1_ENST00000454432.2_Missense_Mutation_p.N221H|GPBP1_ENST00000511209.1_Missense_Mutation_p.N208H|GPBP1_ENST00000424459.3_Missense_Mutation_p.N221H|GPBP1_ENST00000514387.2_Missense_Mutation_p.N30H|GPBP1_ENST00000538707.1_Missense_Mutation_p.N208H			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	201					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GCCAGTTAAGAATGGAACTGG	0.388																																																	0													72.0	76.0	75.0					5																	56542249		2203	4300	6503	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.601A>C	5.37:g.56542249A>C	ENSP00000421202:p.Asn201His		A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	NULL	p.N221H	ENST00000506184.2	37	c.661	CCDS34162.1	5	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708759	0.68615	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.52754	1.79;0.65;1.81;1.79;1.78;1.8;1.8	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.50000	0.1590	L	0.56769	1.78	0.38169	D	0.93926	P;B;B;B	0.46912	0.886;0.065;0.009;0.038	P;B;B;B	0.48166	0.569;0.022;0.015;0.022	T	0.55805	-0.8083	10	0.41790	T	0.15	-14.9909	9.934	0.41539	0.9241:0.0:0.0759:0.0	.	221;208;208;201	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	H	221;30;201;221;208;208;208	ENSP00000401596:N221H;ENSP00000421709:N30H;ENSP00000421202:N201H;ENSP00000403522:N221H;ENSP00000422337:N208H;ENSP00000264779:N208H;ENSP00000440090:N208H	ENSP00000264779:N208H	N	+	1	0	GPBP1	56578006	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.154000	0.58125	2.063000	0.61619	0.533000	0.62120	AAT	GPBP1	-	NULL		0.388	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	HGNC	protein_coding	OTTHUMT00000374496.1	A	NM_022913		56542249	+1	no_errors	ENST00000424459	ensembl	human	known	70_37	missense	SNP	1.000	C
GPC5	2262	genome.wustl.edu	37	13	92101146	92101146	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:92101146C>A	ENST00000377067.3	+	2	667	c.295C>A	c.(295-297)Cta>Ata	p.L99I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	99					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTAAAGTTTCTAATATCTCG	0.438																																																	0													112.0	103.0	106.0					13																	92101146		2203	4300	6503	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.295C>A	13.37:g.92101146C>A	ENSP00000366267:p.Leu99Ile		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.L99I	ENST00000377067.3	37	c.295	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984460	0.74474	.	.	ENSG00000179399	ENST00000377067	T	0.52295	0.67	5.5	2.85	0.33270	.	0.076656	0.52532	D	0.000065	T	0.62196	0.2408	M	0.77820	2.39	0.30670	N	0.753458	D	0.54601	0.967	P	0.62014	0.897	T	0.64381	-0.6421	10	0.72032	D	0.01	.	8.1463	0.31113	0.0:0.6771:0.0:0.3229	.	99	P78333	GPC5_HUMAN	I	99	ENSP00000366267:L99I	ENSP00000366267:L99I	L	+	1	2	GPC5	90899147	0.933000	0.31639	0.999000	0.59377	0.907000	0.53573	1.408000	0.34668	0.697000	0.31718	0.467000	0.42956	CTA	GPC5	-	pfam_Glypican		0.438	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	C	NM_004466		92101146	+1	no_errors	ENST00000377067	ensembl	human	known	70_37	missense	SNP	1.000	A
GPC5	2262	genome.wustl.edu	37	13	93518569	93518569	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:93518569G>A	ENST00000377067.3	+	8	1968	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	532					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTGATGTAAAGCAAATCCATC	0.433																																																	0													243.0	193.0	210.0					13																	93518569		2203	4300	6503	SO:0001819	synonymous_variant	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1596G>A	13.37:g.93518569G>A			B2R726|O60436|Q9BX27	Silent	SNP	pfam_Glypican	p.K532	ENST00000377067.3	37	c.1596	CCDS9468.1	13																																																																																			GPC5	-	pfam_Glypican		0.433	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	G	NM_004466		93518569	+1	no_errors	ENST00000377067	ensembl	human	known	70_37	silent	SNP	1.000	A
GPD1L	23171	genome.wustl.edu	37	3	32207342	32207342	+	Silent	SNP	C	C	T	rs149423659	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:32207342C>T	ENST00000282541.5	+	8	1197	c.996C>T	c.(994-996)taC>taT	p.Y332Y		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	332					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						AGATCTGCTACGAAAGCAGAC	0.423																																																	0								C		0,4406		0,0,2203	211.0	178.0	189.0		996	-6.9	0.6	3	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPD1L	NM_015141.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		332/352	32207342	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23171			D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.996C>T	3.37:g.32207342C>T			A8K9U3|Q14702|Q9BRM5	Silent	SNP	pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk	p.Y332	ENST00000282541.5	37	c.996	CCDS33729.1	3																																																																																			GPD1L	-	pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk		0.423	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD1L	HGNC	protein_coding	OTTHUMT00000341975.2	C	NM_015141		32207342	+1	no_errors	ENST00000282541	ensembl	human	known	70_37	silent	SNP	0.463	T
GPER1	2852	genome.wustl.edu	37	7	1131452	1131452	+	Missense_Mutation	SNP	G	G	A	rs201954771		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:1131452G>A	ENST00000297469.3	+	2	779	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.E30K|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.E30K|C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000397092.1_Missense_Mutation_p.E30K	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	30					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CACCTCCCCCGAGCTCAACCT	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15039	0.0		0.001	False		,,,				2504	0.0																0									LYS/GLU,LYS/GLU,,,LYS/GLU,	0,4404		0,0,2202	45.0	44.0	44.0		88,88,,,88,	4.6	0.0	7		44	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,intron,intron,missense,intron	GPER,C7orf50	NM_001039966.1,NM_001098201.1,NM_001134395.1,NM_001134396.1,NM_001505.2,NM_032350.5	56,56,,,56,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,,,benign,	30/376,30/376,,,30/376,	1131452	1,13003	2202	4300	6502	SO:0001583	missense	2852			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.88G>A	7.37:g.1131452G>A	ENSP00000297469:p.Glu30Lys		A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E30K	ENST00000297469.3	37	c.88	CCDS5322.1	7	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239351	0.39598	0.0	1.16E-4	ENSG00000164850	ENST00000401670;ENST00000413368;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T;T	0.67698	-0.28;0.86;-0.28;-0.28;-0.28	4.63	4.63	0.57726	.	0.400119	0.21712	N	0.070254	T	0.47525	0.1450	L	0.27053	0.805	0.09310	N	1	B	0.27416	0.178	B	0.17098	0.017	T	0.23440	-1.0188	10	0.13470	T	0.59	.	10.1473	0.42771	0.1044:0.0:0.8956:0.0	.	30	Q99527	GPER_HUMAN	K	30	ENSP00000385151:E30K;ENSP00000410487:E30K;ENSP00000380281:E30K;ENSP00000297469:E30K;ENSP00000380277:E30K	ENSP00000297469:E30K	E	+	1	0	GPER	1097978	0.092000	0.21681	0.003000	0.11579	0.003000	0.03518	1.538000	0.36094	2.144000	0.66660	0.655000	0.94253	GAG	GPER	-	NULL		0.672	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	GPER	HGNC	protein_coding	OTTHUMT00000060001.1	G	NM_001039966		1131452	+1	no_errors	ENST00000297469	ensembl	human	known	70_37	missense	SNP	0.074	A
GPR111	222611	genome.wustl.edu	37	6	47649621	47649621	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:47649621G>A	ENST00000296862.1	+	6	1326	c.1326G>A	c.(1324-1326)gaG>gaA	p.E442E	GPR111_ENST00000398742.2_Silent_p.E374E|GPR111_ENST00000507065.1_Silent_p.E374E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	442					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACATCTTAGAGAGTCTGATTC	0.423																																																	0													174.0	159.0	164.0					6																	47649621		1927	4130	6057	SO:0001819	synonymous_variant	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1326G>A	6.37:g.47649621G>A			Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E442	ENST00000296862.1	37	c.1326		6																																																																																			GPR111	-	NULL		0.423	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	G	NM_153839		47649621	+1	no_errors	ENST00000296862	ensembl	human	known	70_37	silent	SNP	0.006	A
GPR111	222611	genome.wustl.edu	37	6	47650411	47650411	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:47650411G>T	ENST00000296862.1	+	6	2116	c.2116G>T	c.(2116-2118)Gat>Tat	p.D706Y	GPR111_ENST00000398742.2_Intron|GPR111_ENST00000507065.1_Missense_Mutation_p.D638Y			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	706					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AATTCATGAAGATGTTCTGTG	0.413																																																	0													32.0	30.0	30.0					6																	47650411		1971	4165	6136	SO:0001583	missense	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.2116G>T	6.37:g.47650411G>T	ENSP00000296862:p.Asp706Tyr		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D706Y	ENST00000296862.1	37	c.2116		6	.	.	.	.	.	.	.	.	.	.	G	9.268	1.044892	0.19748	.	.	ENSG00000164393	ENST00000507065;ENST00000296862	T;T	0.28255	1.84;1.62	5.01	0.359	0.16088	.	1.848750	0.02977	N	0.145103	T	0.06781	0.0173	.	.	.	0.09310	N	1	P	0.45078	0.85	B	0.34722	0.188	T	0.15694	-1.0428	9	0.87932	D	0	.	1.0932	0.01668	0.2209:0.3255:0.287:0.1666	.	706	Q8IZF7	GP111_HUMAN	Y	638;706	ENSP00000422934:D638Y;ENSP00000296862:D706Y	ENSP00000296862:D706Y	D	+	1	0	GPR111	47758370	0.006000	0.16342	0.001000	0.08648	0.006000	0.05464	1.031000	0.30165	0.201000	0.20466	-0.165000	0.13383	GAT	GPR111	-	NULL		0.413	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	G	NM_153839		47650411	+1	no_errors	ENST00000296862	ensembl	human	known	70_37	missense	SNP	0.000	T
GPR112	139378	genome.wustl.edu	37	X	135405383	135405383	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:135405383A>C	ENST00000394143.1	+	5	808	c.517A>C	c.(517-519)Agc>Cgc	p.S173R	GPR112_ENST00000370652.1_Missense_Mutation_p.S173R|GPR112_ENST00000287534.4_Missense_Mutation_p.S110R|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	173					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CGAGGTTAAAAGCATGATGCG	0.443																																																	0													178.0	155.0	163.0					X																	135405383		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.517A>C	X.37:g.135405383A>C	ENSP00000377699:p.Ser173Arg		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S173R	ENST00000394143.1	37	c.517	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	A	9.593	1.126543	0.20959	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.63913	-0.07;-0.07;-0.07	5.62	4.4	0.53042	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.47911	0.1471	L	0.29908	0.895	0.09310	N	1	B	0.26547	0.152	B	0.29524	0.103	T	0.41910	-0.9482	9	0.45353	T	0.12	.	5.0258	0.14383	0.7211:0.1775:0.1014:0.0	.	173	Q8IZF6	GP112_HUMAN	R	173;173;110	ENSP00000377699:S173R;ENSP00000359686:S173R;ENSP00000287534:S110R	ENSP00000287534:S110R	S	+	1	0	GPR112	135233049	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	0.099000	0.15210	0.700000	0.31782	0.417000	0.27973	AGC	GPR112	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	A			135405383	+1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.000	C
GPR112	139378	genome.wustl.edu	37	X	135435503	135435503	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:135435503C>A	ENST00000394143.1	+	8	7121	c.6830C>A	c.(6829-6831)tCt>tAt	p.S2277Y	GPR112_ENST00000370652.1_Missense_Mutation_p.S2277Y|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Missense_Mutation_p.S2072Y|GPR112_ENST00000412101.1_Missense_Mutation_p.S2072Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2277					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGTTGAATTCTATATTTCAG	0.363																																																	0													147.0	135.0	139.0					X																	135435503		2202	4299	6501	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6830C>A	X.37:g.135435503C>A	ENSP00000377699:p.Ser2277Tyr		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S2277Y	ENST00000394143.1	37	c.6830	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068697	0.20147	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.29397	1.61;1.61;1.57;1.57	5.35	-0.385	0.12470	.	.	.	.	.	T	0.16300	0.0392	N	0.14661	0.345	0.36228	D	0.852463	P;P	0.50066	0.931;0.886	P;B	0.47430	0.547;0.345	T	0.34204	-0.9838	9	0.28530	T	0.3	.	1.0191	0.01514	0.1536:0.3854:0.1485:0.3125	.	2072;2277	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Y	2277;2277;2072;2072	ENSP00000377699:S2277Y;ENSP00000359686:S2277Y;ENSP00000416526:S2072Y;ENSP00000377697:S2072Y	ENSP00000359686:S2277Y	S	+	2	0	GPR112	135263169	0.474000	0.25886	0.940000	0.37924	0.352000	0.29268	-0.461000	0.06712	0.089000	0.17243	0.594000	0.82650	TCT	GPR112	-	NULL		0.363	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	C			135435503	+1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.653	A
GPR123	84435	genome.wustl.edu	37	10	134916234	134916234	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:134916234A>G	ENST00000392607.3	+	5	725	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	GPR123_ENST00000392606.2_5'UTR|GPR123_ENST00000607359.1_Missense_Mutation_p.T817A	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	97					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TACACTGTCCACCATGCTGTG	0.642																																																	0													65.0	47.0	53.0					10																	134916234		2203	4300	6503	SO:0001583	missense	84435			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.289A>G	10.37:g.134916234A>G	ENSP00000376384:p.Thr97Ala		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.T97A	ENST00000392607.3	37	c.289	CCDS41580.1	10	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587594	0.66105	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.37058	1.22	4.12	4.12	0.48240	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000041	T	0.41373	0.1156	L	0.45137	1.4	0.80722	D	1	P;P	0.42248	0.774;0.542	P;P	0.51742	0.678;0.621	T	0.14924	-1.0455	10	0.32370	T	0.25	-45.4496	11.4167	0.49956	1.0:0.0:0.0:0.0	.	97;817	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	A	817;817;97	ENSP00000376384:T97A	ENSP00000357566:T817A	T	+	1	0	GPR123	134766224	1.000000	0.71417	0.997000	0.53966	0.818000	0.46254	3.516000	0.53436	1.666000	0.50821	0.379000	0.24179	ACC	GPR123	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.642	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000051113.2	A			134916234	+1	no_errors	ENST00000392607	ensembl	human	novel	70_37	missense	SNP	1.000	G
GPR132	29933	genome.wustl.edu	37	14	105518019	105518019	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:105518019C>T	ENST00000329797.3	-	4	1366	c.455G>A	c.(454-456)gGc>gAc	p.G152D	GPR132_ENST00000392585.2_Missense_Mutation_p.G143D|GPR132_ENST00000539291.2_Missense_Mutation_p.G152D|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	152	Poly-Arg.				G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCGGCGGCGGCCCCGACTCTC	0.617																																																	0													66.0	62.0	63.0					14																	105518019		2203	4300	6503	SO:0001583	missense	29933			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.455G>A	14.37:g.105518019C>T	ENSP00000328818:p.Gly152Asp		A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.G152D	ENST00000329797.3	37	c.455	CCDS9997.1	14	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513439	0.44660	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.37058	1.22;1.22;1.22	4.97	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.471455	0.21876	N	0.067803	T	0.55862	0.1947	M	0.75447	2.3	0.23325	N	0.997909	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.53158	-0.8478	10	0.12766	T	0.61	.	14.089	0.64977	0.0:0.848:0.152:0.0	.	143;152	B4E144;Q9UNW8	.;GP132_HUMAN	D	152;143;152	ENSP00000328818:G152D;ENSP00000376364:G143D;ENSP00000438094:G152D	ENSP00000328818:G152D	G	-	2	0	GPR132	104589064	0.974000	0.33945	0.055000	0.19348	0.096000	0.18686	3.071000	0.50041	1.018000	0.39521	0.563000	0.77884	GGC	GPR132	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G2A_lysphc_rcpt		0.617	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR132	HGNC	protein_coding	OTTHUMT00000409278.1	C	NM_013345		105518019	-1	no_errors	ENST00000329797	ensembl	human	known	70_37	missense	SNP	0.230	T
GPR156	165829	genome.wustl.edu	37	3	119900017	119900017	+	Silent	SNP	G	G	T	rs369591611		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:119900017G>T	ENST00000464295.1	-	8	1333	c.888C>A	c.(886-888)atC>atA	p.I296I	GPR156_ENST00000461057.1_Silent_p.I292I|GPR156_ENST00000315843.3_Silent_p.I296I			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TACAAACAAAGATCCCTCCAG	0.473																																																	0													91.0	91.0	91.0					3																	119900017		2203	4300	6503	SO:0001819	synonymous_variant	165829			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.888C>A	3.37:g.119900017G>T			B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.I296	ENST00000464295.1	37	c.888	CCDS2997.1	3																																																																																			GPR156	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B		0.473	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	G	NM_153002		119900017	-1	no_errors	ENST00000315843	ensembl	human	known	70_37	silent	SNP	1.000	T
GPR158	57512	genome.wustl.edu	37	10	25883238	25883238	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:25883238G>T	ENST00000376351.3	+	9	2269	c.1910G>T	c.(1909-1911)aGa>aTa	p.R637I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	637					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTTGCCTCAAGACTTCAGTCT	0.358																																																	0													186.0	167.0	173.0					10																	25883238		2203	4300	6503	SO:0001583	missense	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1910G>T	10.37:g.25883238G>T	ENSP00000365529:p.Arg637Ile		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.R637I	ENST00000376351.3	37	c.1910	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611199	0.46631	.	.	ENSG00000151025	ENST00000376351	D	0.88124	-2.34	5.62	2.4	0.29515	GPCR, family 3, C-terminal (2);	0.219310	0.39615	N	0.001318	T	0.79598	0.4473	N	0.03608	-0.345	0.09310	N	1	D	0.65815	0.995	P	0.61132	0.884	T	0.69232	-0.5199	10	0.45353	T	0.12	.	6.9339	0.24457	0.2205:0.1353:0.6442:0.0	.	637	Q5T848	GP158_HUMAN	I	637	ENSP00000365529:R637I	ENSP00000365529:R637I	R	+	2	0	GPR158	25923244	0.979000	0.34478	0.291000	0.24904	0.972000	0.66771	1.433000	0.34947	1.375000	0.46248	-0.127000	0.14921	AGA	GPR158	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.358	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	G	XM_166110		25883238	+1	no_errors	ENST00000376351	ensembl	human	known	70_37	missense	SNP	0.027	T
GPR158	57512	genome.wustl.edu	37	10	25887399	25887399	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:25887399T>G	ENST00000376351.3	+	11	3203	c.2844T>G	c.(2842-2844)tcT>tcG	p.S948S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	948					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACTCAAATTCTGATAACACAG	0.433																																																	0													101.0	116.0	111.0					10																	25887399		2203	4300	6503	SO:0001819	synonymous_variant	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2844T>G	10.37:g.25887399T>G			Q6QR81|Q9ULT3	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.S948	ENST00000376351.3	37	c.2844	CCDS31166.1	10																																																																																			GPR158	-	NULL		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	T	XM_166110		25887399	+1	no_errors	ENST00000376351	ensembl	human	known	70_37	silent	SNP	0.001	G
GPR179	440435	genome.wustl.edu	37	17	36482659	36482659	+	Nonsense_Mutation	SNP	C	C	A	rs561096333		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:36482659C>A	ENST00000342292.4	-	11	6813	c.6793G>T	c.(6793-6795)Gaa>Taa	p.E2265*	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2265					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGAAAAATTCTCTCCGAGTT	0.483																																																	0													94.0	91.0	92.0					17																	36482659		1852	4101	5953	SO:0001587	stop_gained	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6793G>T	17.37:g.36482659C>A	ENSP00000345060:p.Glu2265*			Nonsense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.E2265*	ENST00000342292.4	37	c.6793	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	45	11.839092	0.99609	.	.	ENSG00000188888	ENST00000342292	.	.	.	5.16	3.17	0.36434	.	0.563025	0.15093	N	0.280979	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-2.6084	4.9886	0.14202	0.1528:0.6194:0.1477:0.0801	.	.	.	.	X	2265	.	ENSP00000345060:E2265X	E	-	1	0	GPR179	33736185	0.874000	0.30092	0.009000	0.14445	0.109000	0.19521	1.793000	0.38764	0.754000	0.32968	0.585000	0.79938	GAA	GPR179	-	NULL		0.483	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36482659	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	nonsense	SNP	0.064	A
GPR21	2844	genome.wustl.edu	37	9	125796960	125796960	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:125796960A>C	ENST00000373642.1	+	1	155	c.115A>C	c.(115-117)Act>Cct	p.T39P	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	39					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TGTCTTTCTAACTGTATTGAT	0.368																																																	0													205.0	180.0	188.0					9																	125796960		2203	4300	6503	SO:0001583	missense	2844			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.115A>C	9.37:g.125796960A>C	ENSP00000362746:p.Thr39Pro		B2R8W9|Q6NXU2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T39P	ENST00000373642.1	37	c.115	CCDS6849.1	9	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123903	0.56613	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.19806	2.12	5.51	5.51	0.81932	.	0.071281	0.53938	U	0.000060	T	0.28034	0.0691	L	0.32530	0.975	0.80722	D	1	P	0.52170	0.951	P	0.51701	0.677	T	0.02093	-1.1215	10	0.87932	D	0	-10.8067	15.6193	0.76793	1.0:0.0:0.0:0.0	.	39	Q99679	GPR21_HUMAN	P	39	ENSP00000362746:T39P	ENSP00000362746:T39P	T	+	1	0	GPR21	124836781	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.972000	0.70448	2.094000	0.63399	0.379000	0.24179	ACT	GPR21	-	prints_GPCR_Rhodpsn		0.368	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR21	HGNC	protein_coding	OTTHUMT00000053965.1	A	NM_005294		125796960	+1	no_errors	ENST00000373642	ensembl	human	known	70_37	missense	SNP	1.000	C
GPR26	2849	genome.wustl.edu	37	10	125426344	125426344	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:125426344G>A	ENST00000284674.1	+	1	474	c.421G>A	c.(421-423)Gcg>Acg	p.A141T		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	141					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCCAGCCGCCGCGCTCGCCCT	0.711																																																	0													10.0	11.0	11.0					10																	125426344		2184	4258	6442	SO:0001583	missense	2849				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.421G>A	10.37:g.125426344G>A	ENSP00000284674:p.Ala141Thr		Q2M2E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A141T	ENST00000284674.1	37	c.421	CCDS7636.1	10	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691440	0.68271	.	.	ENSG00000154478	ENST00000284674	T	0.37058	1.22	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.063063	0.64402	D	0.000007	T	0.52948	0.1766	M	0.83692	2.655	0.80722	D	1	D	0.54964	0.969	P	0.50352	0.638	T	0.65768	-0.6088	10	0.72032	D	0.01	-26.59	16.33	0.83006	0.0:0.0:1.0:0.0	.	141	Q8NDV2	GPR26_HUMAN	T	141	ENSP00000284674:A141T	ENSP00000284674:A141T	A	+	1	0	GPR26	125416334	1.000000	0.71417	0.619000	0.29118	0.003000	0.03518	7.531000	0.81973	2.067000	0.61834	0.655000	0.94253	GCG	GPR26	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.711	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR26	HGNC	protein_coding	OTTHUMT00000050850.1	G			125426344	+1	no_errors	ENST00000284674	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR64	10149	genome.wustl.edu	37	X	19017237	19017237	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:19017237C>A	ENST00000379869.3	-	26	2654	c.2491G>T	c.(2491-2493)Gac>Tac	p.D831Y	GPR64_ENST00000379876.1_Missense_Mutation_p.D807Y|GPR64_ENST00000357544.3_Missense_Mutation_p.D801Y|GPR64_ENST00000356606.4_Missense_Mutation_p.D817Y|GPR64_ENST00000354791.3_Missense_Mutation_p.D815Y|GPR64_ENST00000360279.4_Missense_Mutation_p.D809Y|GPR64_ENST00000379873.2_Missense_Mutation_p.D831Y|GPR64_ENST00000379878.3_Missense_Mutation_p.D815Y|GPR64_ENST00000340581.3_Missense_Mutation_p.D712Y|GPR64_ENST00000357991.3_Missense_Mutation_p.D828Y	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	831					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTCCTGAGGTCTTGAATACTG	0.453																																																	0													154.0	147.0	150.0					X																	19017237		2203	4300	6503	SO:0001583	missense	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2491G>T	X.37:g.19017237C>A	ENSP00000369198:p.Asp831Tyr		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D831Y	ENST00000379869.3	37	c.2491	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551073	0.86127	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.88	5.88	0.94601	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000016	T	0.65668	0.2713	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.997;1.0;0.997;0.998;1.0;1.0;1.0;1.0;0.997;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.991;0.963;0.999;0.991;0.991;0.998;0.999;0.994;0.994;0.991;0.999	T	0.67166	-0.5739	10	0.72032	D	0.01	.	19.1599	0.93526	0.0:1.0:0.0:0.0	.	712;793;801;807;815;831;809;817;828;831;815	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	Y	831;815;815;807;801;831;809;828;817;712	ENSP00000369202:D831Y;ENSP00000369207:D815Y;ENSP00000346845:D815Y;ENSP00000369205:D807Y;ENSP00000350152:D801Y;ENSP00000369198:D831Y;ENSP00000353421:D809Y;ENSP00000350680:D828Y;ENSP00000349015:D817Y;ENSP00000344972:D712Y	ENSP00000344972:D712Y	D	-	1	0	GPR64	18927158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.538000	0.60650	2.475000	0.83589	0.594000	0.82650	GAC	GPR64	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.453	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	C			19017237	-1	no_errors	ENST00000379869	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR34	2857	genome.wustl.edu	37	X	41555200	41555200	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:41555200T>G	ENST00000378142.4	+	3	598	c.314T>G	c.(313-315)tTc>tGc	p.F105C	CASK_ENST00000378158.1_Intron|CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.F105C|CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	105					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CTACTCATCTTCTGCCTCCCT	0.383																																																	0													149.0	138.0	141.0					X																	41555200		2203	4300	6503	SO:0001583	missense	2857			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.314T>G	X.37:g.41555200T>G	ENSP00000367384:p.Phe105Cys		O95853	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.F105C	ENST00000378142.4	37	c.314	CCDS14258.1	X	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885690	0.51908	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.38077	1.16;1.16	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.251216	0.40908	D	0.000998	T	0.52403	0.1732	L	0.46670	1.46	0.37054	D	0.897754	D	0.69078	0.997	D	0.67382	0.951	T	0.58393	-0.7644	10	0.48119	T	0.1	-17.1108	15.3733	0.74584	0.0:0.0:0.0:1.0	.	105	Q9UPC5	GPR34_HUMAN	C	105;105;58	ENSP00000367384:F105C;ENSP00000367378:F105C	ENSP00000367378:F105C	F	+	2	0	GPR34	41440144	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.150000	0.64869	2.014000	0.59158	0.481000	0.45027	TTC	GPR34	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor		0.383	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR34	HGNC	protein_coding	OTTHUMT00000056264.1	T	NM_005300		41555200	+1	no_errors	ENST00000378138	ensembl	human	known	70_37	missense	SNP	1.000	G
GPR75	10936	genome.wustl.edu	37	2	54080632	54080632	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:54080632T>C	ENST00000394705.2	-	2	1532	c.1262A>G	c.(1261-1263)aAa>aGa	p.K421R	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	421					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATGGGAGGATTTGTTTCTGTT	0.453																																																	0													124.0	127.0	126.0					2																	54080632		2203	4300	6503	SO:0001583	missense	10936			AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1262A>G	2.37:g.54080632T>C	ENSP00000378195:p.Lys421Arg		B2RC02|Q6NWR2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.K421R	ENST00000394705.2	37	c.1262	CCDS1849.1	2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192498	0.78902	.	.	ENSG00000119737	ENST00000394705	T	0.27890	1.64	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.57406	-0.7817	9	0.46703	T	0.11	-9.7284	15.6961	0.77499	0.0:0.0:0.0:1.0	.	421	O95800	GPR75_HUMAN	R	421	ENSP00000378195:K421R	ENSP00000378195:K421R	K	-	2	0	GPR75	53934136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.607000	0.82883	2.107000	0.64212	0.459000	0.35465	AAA	GPR75	-	NULL		0.453	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR75	HGNC	protein_coding	OTTHUMT00000251403.2	T			54080632	-1	no_errors	ENST00000394705	ensembl	human	known	70_37	missense	SNP	1.000	C
GPR83	10888	genome.wustl.edu	37	11	94129687	94129687	+	Missense_Mutation	SNP	G	G	A	rs147783996		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:94129687G>A	ENST00000243673.2	-	2	562	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	GPR83_ENST00000539203.2_Intron	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	131					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCACAAAGCGAACCTGGAGA	0.537																																																	0								G	CYS/ARG	0,4402		0,0,2201	123.0	98.0	106.0		391	5.4	1.0	11	dbSNP_134	106	1,8595	1.2+/-3.3	0,1,4297	no	missense	GPR83	NM_016540.3	180	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	131/424	94129687	1,12997	2201	4298	6499	SO:0001583	missense	10888			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.391C>T	11.37:g.94129687G>A	ENSP00000243673:p.Arg131Cys		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R131C	ENST00000243673.2	37	c.391	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.068124	0.93950	0.0	1.16E-4	ENSG00000123901	ENST00000243673	T	0.37915	1.17	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60483	0.2272	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.58317	-0.7657	10	0.40728	T	0.16	.	18.245	0.89982	0.0:0.0:1.0:0.0	.	131	Q9NYM4	GPR83_HUMAN	C	131	ENSP00000243673:R131C	ENSP00000243673:R131C	R	-	1	0	GPR83	93769335	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.273000	0.95719	2.554000	0.86153	0.555000	0.69702	CGC	GPR83	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt		0.537	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1	G	NM_016540		94129687	-1	no_errors	ENST00000243673	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	90041539	90041539	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:90041539T>G	ENST00000405460.2	+	52	10997	c.10901T>G	c.(10900-10902)aTt>aGt	p.I3634S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3634					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGCAGAGATTGGCATTAAT	0.368																																																	0													111.0	101.0	104.0					5																	90041539		1865	4104	5969	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10901T>G	5.37:g.90041539T>G	ENSP00000384582:p.Ile3634Ser		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.I3634S	ENST00000405460.2	37	c.10901	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.6|24.6	4.551966|4.551966	0.86127|0.86127	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.30714|.	1.52|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77123|0.77123	0.4084|0.4084	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.963|.	T|T	0.78671|0.78671	-0.2113|-0.2113	10|5	0.87932|.	D|.	0|.	.|.	15.7868|15.7868	0.78310|0.78310	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3634;3634|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	S|V	3634|1200	ENSP00000384582:I3634S|.	ENSP00000296619:I3634S|.	I|L	+|+	2|1	0|2	GPR98|GPR98	90077295|90077295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	5.933000|5.933000	0.70130|0.70130	2.140000|2.140000	0.66376|0.66376	0.460000|0.460000	0.39030|0.39030	ATT|TTG	GPR98	-	NULL		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	T	NM_032119		90041539	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	G
GPR98	84059	genome.wustl.edu	37	5	90072290	90072290	+	Missense_Mutation	SNP	C	C	T	rs534226753		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:90072290C>T	ENST00000405460.2	+	61	12520	c.12424C>T	c.(12424-12426)Cgg>Tgg	p.R4142W		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4142	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R4142W(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATAATTATTCGGGGTGATAA	0.418																																																	2	Substitution - Missense(2)	large_intestine(2)											104.0	103.0	104.0					5																	90072290		1922	4129	6051	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12424C>T	5.37:g.90072290C>T	ENSP00000384582:p.Arg4142Trp		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R4142W	ENST00000405460.2	37	c.12424	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268763	0.40095	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.28069	1.63	5.27	4.37	0.52481	.	0.316290	0.31199	N	0.008073	T	0.33644	0.0870	L	0.50333	1.59	0.18873	N	0.999989	D	0.69078	0.997	P	0.50490	0.642	T	0.21449	-1.0245	10	0.62326	D	0.03	.	7.0323	0.24975	0.4295:0.491:0.0:0.0796	.	4142	Q8WXG9	GPR98_HUMAN	W	4142	ENSP00000384582:R4142W	ENSP00000296619:R4142W	R	+	1	2	GPR98	90108046	0.000000	0.05858	0.644000	0.29465	0.157000	0.22087	0.055000	0.14229	1.287000	0.44583	0.637000	0.83480	CGG	GPR98	-	NULL		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		90072290	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.052	T
GPRASP1	9737	genome.wustl.edu	37	X	101911364	101911364	+	Silent	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:101911364C>A	ENST00000361600.5	+	5	3324	c.2523C>A	c.(2521-2523)gtC>gtA	p.V841V	GPRASP1_ENST00000444152.1_Silent_p.V841V|GPRASP1_ENST00000537097.1_Silent_p.V841V|GPRASP1_ENST00000415986.1_Silent_p.V841V|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	841	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGAAGAAGTCATTATTGGGT	0.522																																																	0													91.0	94.0	93.0					X																	101911364		2203	4300	6503	SO:0001819	synonymous_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2523C>A	X.37:g.101911364C>A			O43168|Q96LA1	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.V841	ENST00000361600.5	37	c.2523	CCDS35352.1	X																																																																																			GPRASP1	-	NULL		0.522	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	C	NM_014710		101911364	+1	no_errors	ENST00000361600	ensembl	human	known	70_37	silent	SNP	0.000	A
GPRC5D	55507	genome.wustl.edu	37	12	13095230	13095230	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:13095230C>T	ENST00000228887.1	-	2	927	c.928G>A	c.(928-930)Gca>Aca	p.A310T	GPRC5D_ENST00000396333.3_Intron|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GAAGTTAATGCTACATCCTCC	0.507																																																	0													172.0	148.0	156.0					12																	13095230		2203	4300	6503	SO:0001583	missense	55507			AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.928G>A	12.37:g.13095230C>T	ENSP00000228887:p.Ala310Thr		Q3KNV3|Q7Z5J9|Q8TDS6	Missense_Mutation	SNP	pfam_GPCR_3_C	p.A310T	ENST00000228887.1	37	c.928	CCDS8658.1	12	.	.	.	.	.	.	.	.	.	.	C	9.832	1.188671	0.21954	.	.	ENSG00000111291	ENST00000228887	T	0.23147	1.92	5.92	5.03	0.67393	.	0.295633	0.29668	N	0.011518	T	0.12178	0.0296	N	0.17082	0.46	0.80722	D	1	B	0.27997	0.197	B	0.25884	0.064	T	0.13953	-1.0490	10	0.09084	T	0.74	.	7.0099	0.24857	0.1729:0.7422:0.0:0.0849	.	310	Q9NZD1	GPC5D_HUMAN	T	310	ENSP00000228887:A310T	ENSP00000228887:A310T	A	-	1	0	GPRC5D	12986497	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.533000	0.36040	2.813000	0.96785	0.591000	0.81541	GCA	GPRC5D	-	NULL		0.507	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5D	HGNC	protein_coding	OTTHUMT00000400687.1	C			13095230	-1	no_errors	ENST00000228887	ensembl	human	known	70_37	missense	SNP	1.000	T
GPRC6A	222545	genome.wustl.edu	37	6	117113737	117113737	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:117113737G>T	ENST00000310357.3	-	6	2370	c.2349C>A	c.(2347-2349)ttC>ttA	p.F783L	GPRC6A_ENST00000530250.1_Missense_Mutation_p.F608L|GPRC6A_ENST00000368549.3_Missense_Mutation_p.F712L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	783					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CAAATGTAATGAATTTGGCTT	0.393																																																	0													66.0	72.0	70.0					6																	117113737		2203	4300	6503	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2349C>A	6.37:g.117113737G>T	ENSP00000309493:p.Phe783Leu		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.F783L	ENST00000310357.3	37	c.2349	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587330	0.66105	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.87729	-2.29;-2.29;-2.29	4.26	2.48	0.30137	GPCR, family 3, C-terminal (2);	0.000000	0.56097	D	0.000029	D	0.86104	0.5853	L	0.58354	1.805	0.48135	D	0.999597	D;D;D	0.60160	0.984;0.961;0.987	D;P;P	0.64144	0.922;0.854;0.871	D	0.84175	0.0436	10	0.40728	T	0.16	.	9.6629	0.39965	0.1691:0.0:0.8309:0.0	.	712;608;783	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	L	783;712;608	ENSP00000309493:F783L;ENSP00000357537:F712L;ENSP00000433465:F608L	ENSP00000309493:F783L	F	-	3	2	GPRC6A	117220430	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	3.664000	0.54525	0.453000	0.26858	0.591000	0.81541	TTC	GPRC6A	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.393	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	G			117113737	-1	no_errors	ENST00000310357	ensembl	human	known	70_37	missense	SNP	1.000	T
GRAMD1B	57476	genome.wustl.edu	37	11	123464850	123464850	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:123464850C>T	ENST00000529750.1	+	4	643	c.316C>T	c.(316-318)Cca>Tca	p.P106S	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.P113S|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.P106S	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	106	GRAM.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TAAGCAGCTTCCAGACACGGA	0.547																																																	0													86.0	83.0	84.0					11																	123464850		1916	4138	6054	SO:0001583	missense	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.316C>T	11.37:g.123464850C>T	ENSP00000436500:p.Pro106Ser		Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.P106S	ENST00000529750.1	37	c.316	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.292045	0.95546	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.59	5.59	0.84812	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.94503	0.8230	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.999	D;D;D;D	0.87578	0.98;0.998;0.996;0.994	D	0.93966	0.7245	10	0.54805	T	0.06	.	19.9611	0.97250	0.0:1.0:0.0:0.0	.	66;113;106;113	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	S	113;113;106;106;66;102	ENSP00000402457:P113S;ENSP00000325628:P106S;ENSP00000436500:P106S;ENSP00000432987:P66S;ENSP00000434214:P102S	ENSP00000325628:P106S	P	+	1	0	GRAMD1B	122970060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.784000	0.95788	0.643000	0.83706	CCA	GRAMD1B	-	pfam_GRAM,smart_GRAM		0.547	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	C	XM_370660		123464850	+1	no_errors	ENST00000322282	ensembl	human	known	70_37	missense	SNP	1.000	T
GRAMD1C	54762	genome.wustl.edu	37	3	113655209	113655209	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:113655209G>A	ENST00000358160.4	+	14	2045	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R313Q|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R247Q|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R351Q|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	518						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACCTTCAACCGAACAGCAGAA	0.433																																																	0													126.0	122.0	124.0					3																	113655209		2203	4300	6503	SO:0001583	missense	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1553G>A	3.37:g.113655209G>A	ENSP00000350881:p.Arg518Gln		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.R518Q	ENST00000358160.4	37	c.1553	CCDS33826.1	3	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972326	0.92919	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	6.06	5.16	0.70880	.	0.236249	0.35096	N	0.003442	T	0.42854	0.1221	L	0.60957	1.885	0.43263	D	0.995203	D;D	0.89917	0.999;1.0	D;D	0.67725	0.953;0.92	T	0.23619	-1.0183	10	0.16420	T	0.52	.	14.0087	0.64481	0.0:0.0:0.8379:0.1621	.	351;518	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	Q	518;247;351;313;313	ENSP00000350881:R518Q;ENSP00000399844:R247Q;ENSP00000419132:R351Q;ENSP00000418302:R313Q;ENSP00000408135:R313Q	ENSP00000350881:R518Q	R	+	2	0	GRAMD1C	115137899	1.000000	0.71417	0.908000	0.35775	0.960000	0.62799	4.469000	0.60169	1.493000	0.48517	0.655000	0.94253	CGA	GRAMD1C	-	NULL		0.433	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	HGNC	protein_coding	OTTHUMT00000354733.1	G	NM_017577		113655209	+1	no_errors	ENST00000358160	ensembl	human	known	70_37	missense	SNP	0.995	A
GRAMD1C	54762	genome.wustl.edu	37	3	113658832	113658832	+	Missense_Mutation	SNP	G	G	T	rs267599550		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:113658832G>T	ENST00000358160.4	+	16	2283	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E392D|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.E326D|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E430D|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	597						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCCAAGAAGAGAAATCTTTAA	0.373																																																	0													121.0	118.0	119.0					3																	113658832		2203	4300	6503	SO:0001583	missense	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1791G>T	3.37:g.113658832G>T	ENSP00000350881:p.Glu597Asp		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E597D	ENST00000358160.4	37	c.1791	CCDS33826.1	3	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195764	0.38806	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000440446	T;T;T;T	0.46819	1.47;0.87;0.88;0.86	5.53	0.131	0.14755	.	0.241866	0.41823	D	0.000803	T	0.31857	0.0810	L	0.40543	1.245	0.23496	N	0.997558	B;B	0.18610	0.029;0.012	B;B	0.18561	0.022;0.006	T	0.14924	-1.0455	10	0.40728	T	0.16	.	5.5346	0.17003	0.3495:0.1376:0.5128:0.0	.	430;597	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	D	597;326;430;392	ENSP00000350881:E597D;ENSP00000399844:E326D;ENSP00000419132:E430D;ENSP00000408135:E392D	ENSP00000350881:E597D	E	+	3	2	GRAMD1C	115141522	0.756000	0.28383	0.999000	0.59377	0.918000	0.54935	0.045000	0.14013	0.326000	0.23384	0.650000	0.86243	GAG	GRAMD1C	-	NULL		0.373	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	HGNC	protein_coding	OTTHUMT00000354733.1	G	NM_017577		113658832	+1	no_errors	ENST00000358160	ensembl	human	known	70_37	missense	SNP	0.996	T
GRAMD2	196996	genome.wustl.edu	37	15	72460141	72460141	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:72460141C>T	ENST00000309731.7	-	5	321	c.308G>A	c.(307-309)gGc>gAc	p.G103D	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	103	GRAM.					integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GTAGAGCCGGCCCTGGAGGAG	0.572																																																	0													99.0	89.0	93.0					15																	72460141		2199	4297	6496	SO:0001583	missense	196996			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.308G>A	15.37:g.72460141C>T	ENSP00000311657:p.Gly103Asp		B3KT68	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.G103D	ENST00000309731.7	37	c.308	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145917	0.77888	.	.	ENSG00000175318	ENST00000309731	D	0.99907	-7.8	5.0	4.09	0.47781	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.99928	0.9967	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96238	0.9173	10	0.87932	D	0	.	11.3348	0.49498	0.0:0.9153:0.0:0.0847	.	103	Q8IUY3	GRAM2_HUMAN	D	103	ENSP00000311657:G103D	ENSP00000311657:G103D	G	-	2	0	GRAMD2	70247195	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	6.545000	0.73883	1.333000	0.45449	0.561000	0.74099	GGC	GRAMD2	-	pfam_GRAM,smart_GRAM		0.572	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	C	NM_001012642		72460141	-1	no_errors	ENST00000309731	ensembl	human	known	70_37	missense	SNP	1.000	T
GRHL1	29841	genome.wustl.edu	37	2	10105420	10105420	+	Missense_Mutation	SNP	C	C	A	rs140008573		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:10105420C>A	ENST00000324907.9	+	8	1156	c.1020C>A	c.(1018-1020)gaC>gaA	p.D340E	GRHL1_ENST00000324883.5_Missense_Mutation_p.D151E|GRHL1_ENST00000405379.2_Missense_Mutation_p.D340E	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	340					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CTGTAGCTGACTATAAAGAAA	0.408																																																	0								C	GLU/ASP	0,4406		0,0,2203	119.0	120.0	120.0		1020	5.6	1.0	2	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRHL1	NM_198182.2	45	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	340/619	10105420	1,13005	2203	4300	6503	SO:0001583	missense	29841			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1020C>A	2.37:g.10105420C>A	ENSP00000324693:p.Asp340Glu		A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	pfam_CP2	p.D340E	ENST00000324907.9	37	c.1020	CCDS33144.2	2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773681	0.90108	0.0	1.16E-4	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.26957	1.7;1.7;1.7	5.6	5.6	0.85130	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.33828	-0.9853	10	0.87932	D	0	-27.5858	13.8508	0.63496	0.0:0.9273:0.0:0.0727	.	151;340	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	E	340;151;340	ENSP00000384209:D340E;ENSP00000324494:D151E;ENSP00000324693:D340E	ENSP00000324494:D151E	D	+	3	2	GRHL1	10022871	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.291000	0.51764	2.627000	0.88993	0.650000	0.86243	GAC	GRHL1	-	pfam_CP2		0.408	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL1	HGNC	protein_coding	OTTHUMT00000323543.2	C	NM_014552		10105420	+1	no_errors	ENST00000324907	ensembl	human	known	70_37	missense	SNP	1.000	A
GRID1	2894	genome.wustl.edu	37	10	87628911	87628911	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:87628911A>C	ENST00000327946.7	-	6	892	c.807T>G	c.(805-807)gaT>gaG	p.D269E		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	269					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TATGGACCAGATCCAGGATCT	0.502										Multiple Myeloma(13;0.14)																																							0													140.0	125.0	130.0					10																	87628911		2203	4300	6503	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.807T>G	10.37:g.87628911A>C	ENSP00000330148:p.Asp269Glu		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D269E	ENST00000327946.7	37	c.807	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	A	4.059	0.008674	0.07912	.	.	ENSG00000182771	ENST00000327946	D	0.81908	-1.55	5.82	0.809	0.18725	Extracellular ligand-binding receptor (1);	0.044244	0.85682	D	0.000000	T	0.39835	0.1093	N	0.00146	-1.995	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50642	-0.8804	10	0.02654	T	1	.	5.9713	0.19353	0.4274:0.2899:0.2828:0.0	.	269	Q9ULK0	GRID1_HUMAN	E	269	ENSP00000330148:D269E	ENSP00000330148:D269E	D	-	3	2	GRID1	87618891	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	1.842000	0.39250	0.115000	0.18071	-0.912000	0.02778	GAT	GRID1	-	pfam_ANF_lig-bd_rcpt		0.502	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	A	XM_043613		87628911	-1	no_errors	ENST00000327946	ensembl	human	known	70_37	missense	SNP	1.000	C
GRIK4	2900	genome.wustl.edu	37	11	120769288	120769288	+	Silent	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:120769288C>A	ENST00000527524.2	+	12	1499	c.1212C>A	c.(1210-1212)ctC>ctA	p.L404L	GRIK4_ENST00000438375.2_Silent_p.L404L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	404					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ACAGCCACCTCTATGCCTCCA	0.602																																																	0													214.0	141.0	166.0					11																	120769288		2203	4299	6502	SO:0001819	synonymous_variant	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1212C>A	11.37:g.120769288C>A			A8K9L1	Silent	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.L404	ENST00000527524.2	37	c.1212	CCDS8433.1	11																																																																																			GRIK4	-	NULL		0.602	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	C	NM_014619		120769288	+1	no_errors	ENST00000527524	ensembl	human	known	70_37	silent	SNP	0.737	A
GRIN2A	2903	genome.wustl.edu	37	16	9858082	9858082	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:9858082T>C	ENST00000396573.2	-	14	3628	c.3319A>G	c.(3319-3321)Aaa>Gaa	p.K1107E	GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1107E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1107E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1107E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K950E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1107E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1107					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATTTGGTTTTCAGGTAGGTG	0.463																																																	0													148.0	142.0	144.0					16																	9858082		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3319A>G	16.37:g.9858082T>C	ENSP00000379818:p.Lys1107Glu		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K1107E	ENST00000396573.2	37	c.3319	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	T	18.43	3.622464	0.66787	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.13307	2.6;2.6;2.61;2.6;2.6	5.34	5.34	0.76211	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.089283	0.85682	D	0.000000	T	0.35098	0.0920	M	0.68317	2.08	0.58432	D	0.999994	P;P;D	0.69078	0.935;0.947;0.997	P;P;D	0.79108	0.679;0.726;0.992	T	0.03887	-1.0995	9	.	.	.	.	14.5082	0.67767	0.0:0.0:0.0:1.0	.	950;1107;1107	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	E	1107;1107;950;1107;1107	ENSP00000379818:K1107E;ENSP00000385872:K1107E;ENSP00000441572:K950E;ENSP00000332549:K1107E;ENSP00000379820:K1107E	.	K	-	1	0	GRIN2A	9765583	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.705000	0.68355	2.023000	0.59567	0.482000	0.46254	AAA	GRIN2A	-	pfam_NMDAR2_C		0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	T			9858082	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	missense	SNP	1.000	C
GRIP1	23426	genome.wustl.edu	37	12	66856842	66856842	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:66856842G>C	ENST00000398016.3	-	9	972	c.904C>G	c.(904-906)Ctc>Gtc	p.L302V	GRIP1_ENST00000359742.4_Missense_Mutation_p.L302V|GRIP1_ENST00000286445.7_Missense_Mutation_p.L302V	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCGATGGAGAGGATGTGATCT	0.507																																																	0													133.0	130.0	131.0					12																	66856842		2051	4201	6252	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.904C>G	12.37:g.66856842G>C	ENSP00000381098:p.Leu302Val		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L302V	ENST00000398016.3	37	c.904	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.27|17.27	3.346426|3.346426	0.61073|0.61073	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000543172	T;T;T;T;T;T|.	0.34275|.	1.37;1.37;1.37;1.37;1.37;1.37|.	5.23|5.23	3.33|3.33	0.38152|0.38152	PDZ/DHR/GLGF (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65523|0.65523	0.2699|0.2699	M|M	0.75085|0.75085	2.285|2.285	0.53688|0.53688	D|D	0.999974|0.999974	B;D;P;D|.	0.64830|.	0.372;0.994;0.952;0.986|.	P;D;P;D|.	0.83275|.	0.589;0.996;0.886;0.993|.	T|T	0.63386|0.63386	-0.6649|-0.6649	9|5	.|.	.|.	.|.	-10.9628|-10.9628	8.7501|8.7501	0.34611|0.34611	0.2459:0.0:0.7541:0.0|0.2459:0.0:0.7541:0.0	.|.	302;302;302;302|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	V|R	302;302;302;302;246;246|122	ENSP00000381098:L302V;ENSP00000352780:L302V;ENSP00000286445:L302V;ENSP00000446047:L302V;ENSP00000446024:L246V;ENSP00000446011:L246V|.	.|.	L|P	-|-	1|2	0|0	GRIP1|GRIP1	65143109|65143109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.837000|0.837000	0.47467|0.47467	5.690000|5.690000	0.68241|0.68241	0.797000|0.797000	0.33971|0.33971	0.655000|0.655000	0.94253|0.94253	CTC|CCT	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.507	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	G			66856842	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	C
GRIP2	80852	genome.wustl.edu	37	3	14558622	14558622	+	RNA	SNP	C	C	T	rs572869583		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:14558622C>T	ENST00000273083.3	-	0	1320							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CATTGTAGTTCGAGGACTCAT	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20299	0.0		0.0	False		,,,				2504	0.0																0													73.0	80.0	77.0					3																	14558622		2052	4186	6238			80852			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14558622C>T			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-		0.572	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	C	NM_001080423		14558622	-1	no_errors	ENST00000273083	ensembl	human	known	70_37	rna	SNP	0.984	T
GRIPAP1	56850	genome.wustl.edu	37	X	48841726	48841726	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48841726G>A	ENST00000376441.1	-	14	1165	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	GRIPAP1_ENST00000376425.3_Silent_p.Y346Y|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Silent_p.Y324Y|GRIPAP1_ENST00000376444.3_Silent_p.Y332Y	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	377						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TAAGGTCCTCGTACTCAGCCT	0.532																																																	0													153.0	100.0	118.0					X																	48841726		2203	4300	6503	SO:0001819	synonymous_variant	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1131C>T	X.37:g.48841726G>A			A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	superfamily_Prefoldin	p.Y377	ENST00000376441.1	37	c.1131	CCDS35248.1	X																																																																																			GRIPAP1	-	NULL		0.532	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	G	NM_207672		48841726	-1	no_errors	ENST00000376441	ensembl	human	known	70_37	silent	SNP	0.200	A
GRIPAP1	56850	genome.wustl.edu	37	X	48841800	48841800	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48841800T>G	ENST00000376441.1	-	14	1091	c.1057A>C	c.(1057-1059)Acc>Ccc	p.T353P	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.T322P|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.T300P|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.T308P	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	353						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						AGTTCTTGGGTCTTTGCTGTT	0.542																																																	0													104.0	84.0	91.0					X																	48841800		2203	4300	6503	SO:0001583	missense	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1057A>C	X.37:g.48841800T>G	ENSP00000365624:p.Thr353Pro		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	superfamily_Prefoldin	p.T353P	ENST00000376441.1	37	c.1057	CCDS35248.1	X	.	.	.	.	.	.	.	.	.	.	t	18.52	3.641829	0.67244	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.15	2.95	0.34219	.	0.000000	0.64402	D	0.000003	T	0.42653	0.1212	L	0.55481	1.735	0.39553	D	0.969004	P;D;D	0.67145	0.888;0.989;0.996	P;P;D	0.64410	0.636;0.893;0.925	T	0.31251	-0.9950	10	0.40728	T	0.16	-8.5923	8.2817	0.31904	0.0:0.1041:0.0:0.8959	.	300;243;353	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	P	322;308;353;322;300	ENSP00000365608:T322P;ENSP00000365627:T308P;ENSP00000365624:T353P;ENSP00000365606:T300P	ENSP00000365606:T300P	T	-	1	0	GRIPAP1	48726744	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.307000	0.59123	1.335000	0.45486	0.231000	0.17811	ACC	GRIPAP1	-	NULL		0.542	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	T	NM_207672		48841800	-1	no_errors	ENST00000376441	ensembl	human	known	70_37	missense	SNP	1.000	G
GRM5	2915	genome.wustl.edu	37	11	88241884	88241884	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:88241884G>A	ENST00000305447.4	-	9	3664	c.3515C>T	c.(3514-3516)tCg>tTg	p.S1172L	GRM5_ENST00000393297.1_Missense_Mutation_p.S902L|GRM5_ENST00000305432.5_Missense_Mutation_p.S1140L|GRM5_ENST00000418177.2_Missense_Mutation_p.S1172L|GRM5_ENST00000455756.2_Missense_Mutation_p.S1140L|GRM5-AS1_ENST00000526448.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1172					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CGAGTCCACCGAGTCTCTGAA	0.657																																																	0													14.0	16.0	15.0					11																	88241884		2190	4294	6484	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3515C>T	11.37:g.88241884G>A	ENSP00000306138:p.Ser1172Leu		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.S1172L	ENST00000305447.4	37	c.3515	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177014	0.78564	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.92595	-3.07;-3.03;-3.03;-3.07;-2.72	4.88	4.88	0.63580	Metabotropic glutamate receptor, Homer-binding domain (1);	0.000000	0.64402	D	0.000003	D	0.94545	0.8243	L	0.59436	1.845	0.43994	D	0.996692	D;D	0.63880	0.962;0.993	B;P	0.62740	0.324;0.906	D	0.94023	0.7294	9	.	.	.	.	18.1036	0.89513	0.0:0.0:1.0:0.0	.	1140;1172	P41594-2;P41594	.;GRM5_HUMAN	L	1172;1140;1140;1172;902	ENSP00000402912:S1172L;ENSP00000405690:S1140L;ENSP00000305905:S1140L;ENSP00000306138:S1172L;ENSP00000376975:S902L	.	S	-	2	0	GRM5	87881532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.195000	0.72088	2.248000	0.74166	0.551000	0.68910	TCG	GRM5	-	pfam_Metabotropic_Glu_rcpt_Homer-bd,prints_GPCR_3_mtglu_rcpt_1		0.657	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	G	NM_000842		88241884	-1	no_errors	ENST00000305447	ensembl	human	known	70_37	missense	SNP	1.000	A
GRM6	2916	genome.wustl.edu	37	5	178416330	178416330	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:178416330C>A	ENST00000517717.1	-	6	1127	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D	GRM6_ENST00000231188.5_Missense_Mutation_p.E363D|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	363					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		AGTTAAAATTCTCTTCCCAGA	0.547																																																	0													95.0	93.0	94.0					5																	178416330		2203	4300	6503	SO:0001583	missense	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1089G>T	5.37:g.178416330C>A	ENSP00000430767:p.Glu363Asp			Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.E363D	ENST00000517717.1	37	c.1089	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	C	7.603	0.673092	0.14776	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.86030	-2.06;-2.06	5.07	0.809	0.18725	Extracellular ligand-binding receptor (1);	.	.	.	.	T	0.67211	0.2869	N	0.16098	0.37	0.35270	D	0.780358	B	0.06786	0.001	B	0.11329	0.006	T	0.56195	-0.8019	9	0.16896	T	0.51	.	4.8457	0.13512	0.0:0.432:0.2741:0.2939	.	363	O15303	GRM6_HUMAN	D	395;363;363	ENSP00000231188:E363D;ENSP00000430767:E363D	ENSP00000231188:E363D	E	-	3	2	GRM6	178348936	0.574000	0.26684	1.000000	0.80357	0.977000	0.68977	-0.032000	0.12266	0.266000	0.21894	0.655000	0.94253	GAG	GRM6	-	pfam_ANF_lig-bd_rcpt		0.547	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	C			178416330	-1	no_errors	ENST00000231188	ensembl	human	known	70_37	missense	SNP	1.000	A
GRM8	2918	genome.wustl.edu	37	7	126883055	126883055	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:126883055C>A	ENST00000339582.2	-	2	1012	c.204G>T	c.(202-204)aaG>aaT	p.K68N	GRM8_ENST00000444921.2_Missense_Mutation_p.K68N|GRM8_ENST00000405249.1_Missense_Mutation_p.K68N|GRM8_ENST00000358373.3_Missense_Mutation_p.K68N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	68					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCTTTTCCTTCTTCAGCTCCC	0.522										HNSCC(24;0.065)																																							0													90.0	71.0	77.0					7																	126883055		2203	4300	6503	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.204G>T	7.37:g.126883055C>A	ENSP00000344173:p.Lys68Asn		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.K68N	ENST00000339582.2	37	c.204	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275796	0.23307	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	6.17	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	N	0.25426	0.745	0.58432	D	0.999998	D;B	0.76494	0.999;0.23	D;B	0.80764	0.994;0.05	T	0.57118	-0.7866	10	0.15499	T	0.54	.	9.071	0.36493	0.0:0.7846:0.0:0.2154	.	68;68	O00222-2;O00222	.;GRM8_HUMAN	N	68	ENSP00000344173:K68N;ENSP00000409790:K68N;ENSP00000351142:K68N;ENSP00000385731:K68N;ENSP00000415522:K68N	ENSP00000344173:K68N	K	-	3	2	GRM8	126670291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.739000	0.38217	1.637000	0.50538	0.655000	0.94253	AAG	GRM8	-	NULL		0.522	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	C			126883055	-1	no_errors	ENST00000339582	ensembl	human	known	70_37	missense	SNP	1.000	A
GRPEL2	134266	genome.wustl.edu	37	5	148732527	148732527	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:148732527T>G	ENST00000329271.3	+	0	2470				GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000507562.1_3'UTR	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)						cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTCTAGATTATATAGGTTT	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	134266			AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.*1682T>G	5.37:g.148732527T>G			B4DFA6|Q49AJ6	RNA	SNP	-	NULL	ENST00000329271.3	37	NULL	CCDS4295.1	5																																																																																			GRPEL2	-	-		0.333	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPEL2	HGNC	protein_coding	OTTHUMT00000252327.1	T	NM_152407		148732527	+1	no_errors	ENST00000507562	ensembl	human	known	70_37	rna	SNP	0.002	G
GRPR	2925	genome.wustl.edu	37	X	16142145	16142145	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:16142145T>G	ENST00000380289.2	+	1	467	c.69T>G	c.(67-69)agT>agG	p.S23R		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	23					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ACATCTCCAGTCACAGTGCGG	0.483											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													191.0	182.0	185.0					X																	16142145		2203	4300	6503	SO:0001583	missense	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.69T>G	X.37:g.16142145T>G	ENSP00000369643:p.Ser23Arg	708	B2R910	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.S23R	ENST00000380289.2	37	c.69	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	T	10.54	1.379612	0.24944	.	.	ENSG00000126010	ENST00000380289	T	0.37915	1.17	5.72	3.3	0.37823	.	0.984629	0.08335	N	0.961721	T	0.19446	0.0467	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.30707	-0.9969	10	0.23891	T	0.37	-4.8413	7.749	0.28886	0.0:0.2644:0.0:0.7356	.	23	P30550	GRPR_HUMAN	R	23	ENSP00000369643:S23R	ENSP00000369643:S23R	S	+	3	2	GRPR	16052066	0.968000	0.33430	0.063000	0.19743	0.346000	0.29079	0.892000	0.28322	0.353000	0.24079	0.486000	0.48141	AGT	GRPR	-	prints_Gastrin_pep_rcpt		0.483	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	T	NM_005314		16142145	+1	no_errors	ENST00000380289	ensembl	human	known	70_37	missense	SNP	0.953	G
GRPR	2925	genome.wustl.edu	37	X	16170617	16170617	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:16170617C>T	ENST00000380289.2	+	3	1402	c.1004C>T	c.(1003-1005)aCt>aTt	p.T335I	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	335					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CAGTTCAACACTCAGCTGCTC	0.572																																																	0													146.0	118.0	127.0					X																	16170617		2203	4300	6503	SO:0001583	missense	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.1004C>T	X.37:g.16170617C>T	ENSP00000369643:p.Thr335Ile		B2R910	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.T335I	ENST00000380289.2	37	c.1004	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455123	0.43634	.	.	ENSG00000126010	ENST00000380289	T	0.37411	1.2	5.47	4.55	0.56014	.	0.336486	0.32769	N	0.005663	T	0.21267	0.0512	N	0.14661	0.345	0.28978	N	0.888809	B	0.27823	0.19	B	0.25140	0.058	T	0.11665	-1.0578	10	0.45353	T	0.12	-37.9381	10.352	0.43941	0.3743:0.6257:0.0:0.0	.	335	P30550	GRPR_HUMAN	I	335	ENSP00000369643:T335I	ENSP00000369643:T335I	T	+	2	0	GRPR	16080538	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.890000	0.39728	2.287000	0.76781	0.600000	0.82982	ACT	GRPR	-	pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,prints_Bombsn_rcpt		0.572	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	C	NM_005314		16170617	+1	no_errors	ENST00000380289	ensembl	human	known	70_37	missense	SNP	1.000	T
GTF2H3	2967	genome.wustl.edu	37	12	124132555	124132555	+	Silent	SNP	C	C	T	rs147980357	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:124132555C>T	ENST00000543341.2	+	4	277	c.246C>T	c.(244-246)ttC>ttT	p.F82F	GTF2H3_ENST00000228955.7_Silent_p.F41F	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	82					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GAGACTTCTTCGGAGACCCTG	0.458								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)												0								C		1,4405	2.1+/-5.4	0,1,2202	94.0	98.0	96.0		246	-8.6	0.5	12	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	GTF2H3	NM_001516.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		82/309	124132555	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2967			Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.246C>T	12.37:g.124132555C>T			B2R819|B4DNZ6|Q7L0G0|Q96AT7	Silent	SNP	pfam_TF_Tfb4,tigrfam_TF_Tfb4	p.F82	ENST00000543341.2	37	c.246	CCDS9252.1	12																																																																																			GTF2H3	-	pfam_TF_Tfb4,tigrfam_TF_Tfb4		0.458	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H3	HGNC	protein_coding	OTTHUMT00000400641.2	C	NM_001516		124132555	+1	no_errors	ENST00000543341	ensembl	human	known	70_37	silent	SNP	0.890	T
GTF3C4	9329	genome.wustl.edu	37	9	135553957	135553957	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:135553957T>C	ENST00000372146.4	+	2	1515	c.951T>C	c.(949-951)ttT>ttC	p.F317F	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	317					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GTGTATTGTTTTGGTGGGAAT	0.428																																					Pancreas(142;417 1875 11086 31973 47667)												0													156.0	151.0	153.0					9																	135553957		2203	4300	6503	SO:0001819	synonymous_variant	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.951T>C	9.37:g.135553957T>C			Q5VZJ7	Silent	SNP	superfamily_WD40_repeat_dom	p.F317	ENST00000372146.4	37	c.951	CCDS6953.1	9																																																																																			GTF3C4	-	superfamily_WD40_repeat_dom		0.428	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C4	HGNC	protein_coding	OTTHUMT00000054792.1	T			135553957	+1	no_errors	ENST00000372146	ensembl	human	known	70_37	silent	SNP	0.948	C
GTF3C6	112495	genome.wustl.edu	37	6	111283616	111283616	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:111283616A>C	ENST00000329970.7	+	5	479	c.269A>C	c.(268-270)aAa>aCa	p.K90T	GTF3C6_ENST00000480191.1_3'UTR|snoU13_ENST00000458794.1_RNA	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	90					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		GGCAATAATAAAACAGTGCTA	0.348																																																	0													76.0	71.0	73.0					6																	111283616		2203	4300	6503	SO:0001583	missense	112495			AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"""General transcription factors"""	20872	protein-coding gene	gene with protein product		611784	"""chromosome 6 open reading frame 51"""	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.269A>C	6.37:g.111283616A>C	ENSP00000357863:p.Lys90Thr		Q5VXN2	Missense_Mutation	SNP	pfam_TFIIIC_tau55-rel	p.K90T	ENST00000329970.7	37	c.269	CCDS5087.1	6	.	.	.	.	.	.	.	.	.	.	a	14.15	2.450963	0.43531	.	.	ENSG00000155115	ENST00000329970	.	.	.	4.74	3.57	0.40892	.	0.272209	0.41823	D	0.000820	T	0.49457	0.1558	M	0.76574	2.34	0.37337	D	0.910243	D	0.54207	0.965	P	0.48114	0.567	T	0.54794	-0.8240	9	0.49607	T	0.09	-1.4643	10.3251	0.43787	0.9203:0.0:0.0797:0.0	.	90	Q969F1	TF3C6_HUMAN	T	90	.	ENSP00000357863:K90T	K	+	2	0	GTF3C6	111390309	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	1.992000	0.40737	0.785000	0.33685	0.456000	0.33151	AAA	GTF3C6	-	NULL		0.348	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C6	HGNC	protein_coding	OTTHUMT00000041820.1	A	NM_138408		111283616	+1	no_errors	ENST00000329970	ensembl	human	known	70_37	missense	SNP	1.000	C
GTPBP8	29083	genome.wustl.edu	37	3	112714067	112714067	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:112714067A>G	ENST00000383678.2	+	3	603	c.521A>G	c.(520-522)gAa>gGa	p.E174G	GTPBP8_ENST00000467752.1_Missense_Mutation_p.E63G|GTPBP8_ENST00000473129.1_Missense_Mutation_p.E24G|GTPBP8_ENST00000383677.3_Missense_Mutation_p.E141G	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	174	EngB-type G.				barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AGAGCACCTGAAGATTTTGTT	0.333																																																	0													73.0	78.0	76.0					3																	112714067		2203	4299	6502	SO:0001583	missense	29083			BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.521A>G	3.37:g.112714067A>G	ENSP00000373176:p.Glu174Gly		A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC	p.E174G	ENST00000383678.2	37	c.521	CCDS33820.1	3	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300342	0.60195	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485;ENST00000467752;ENST00000473129	T;T;T;T	0.72282	2.18;6.68;2.18;-0.64	5.81	4.59	0.56863	GTP-binding domain, HSR1-related (1);	0.268450	0.42172	D	0.000751	T	0.72740	0.3498	M	0.81112	2.525	0.38642	D	0.951637	D;B	0.53745	0.962;0.238	B;B	0.44108	0.441;0.125	T	0.80214	-0.1475	10	0.66056	D	0.02	-21.274	11.8234	0.52252	0.8537:0.1463:0.0:0.0	.	141;174	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	G	174;141;197;63;24	ENSP00000373176:E174G;ENSP00000373175:E141G;ENSP00000417632:E63G;ENSP00000418514:E24G	ENSP00000303802:E197G	E	+	2	0	GTPBP8	114196757	0.903000	0.30736	1.000000	0.80357	0.978000	0.69477	1.731000	0.38135	2.222000	0.72286	0.533000	0.62120	GAA	GTPBP8	-	pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC		0.333	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP8	HGNC	protein_coding	OTTHUMT00000354260.2	A	NM_014170		112714067	+1	no_errors	ENST00000383678	ensembl	human	known	70_37	missense	SNP	1.000	G
GUCY1B2	2974	genome.wustl.edu	37	13	51568837	51568837	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:51568837C>A	ENST00000493639.2	-	0	2680					NR_003923.2		O75343	GCYB2_HUMAN	guanylate cyclase 1, soluble, beta 2 (pseudogene)						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)										GGCAAAGTGTCATTTGCAAGG	0.507																																																	0																																												2974			AF038499		13q14.3	2012-04-19	2012-04-19		ENSG00000123201	ENSG00000123201	4.6.1.2		4686	pseudogene	pseudogene		603695	"""guanylate cyclase 1, soluble, beta 2"""			9889008, 10449911	Standard	NR_003923		Approved	GC-SB2	uc010tgo.2	O75343	OTTHUMG00000016940		13.37:g.51568837C>A			Q9NZ64	RNA	SNP	-	NULL	ENST00000493639.2	37	NULL		13																																																																																			GUCY1B2	-	-		0.507	GUCY1B2-001	KNOWN	basic	processed_transcript	GUCY1B2	HGNC	pseudogene	OTTHUMT00000045014.3	C			51568837	-1	no_errors	ENST00000493639	ensembl	human	known	70_37	rna	SNP	0.016	A
GUCY2EP	390226	genome.wustl.edu	37	11	76415304	76415304	+	lincRNA	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:76415304T>G	ENST00000533588.1	+	0	904				GUCY2EP_ENST00000526984.1_RNA																							CTGGGAATATTTCTCCAGCAA	0.483																																																	0																																												390226																															11.37:g.76415304T>G				RNA	SNP	-	NULL	ENST00000533588.1	37	NULL		11																																																																																			GUCY2EP	-	-		0.483	RP11-672A2.3-001	KNOWN	basic|exp_conf	lincRNA	GUCY2EP	HGNC	lincRNA	OTTHUMT00000383015.2	T			76415304	-1	no_errors	ENST00000526984	ensembl	human	known	70_37	rna	SNP	1.000	G
GUCY2F	2986	genome.wustl.edu	37	X	108652353	108652353	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:108652353G>T	ENST00000218006.2	-	9	2127	c.1836C>A	c.(1834-1836)ttC>ttA	p.F612L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	612	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AATCATAGAAGAAACCCAATA	0.438																																																	0													121.0	104.0	109.0					X																	108652353		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.1836C>A	X.37:g.108652353G>T	ENSP00000218006:p.Phe612Leu		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.F612L	ENST00000218006.2	37	c.1836	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	G	9.862	1.196516	0.22037	.	.	ENSG00000101890	ENST00000218006	D	0.81579	-1.51	4.1	2.33	0.28932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	N	0.04116	-0.275	0.58432	D	0.999996	B	0.10296	0.003	B	0.20184	0.028	T	0.47711	-0.9096	10	0.02654	T	1	.	7.6009	0.28075	0.2207:0.0:0.7793:0.0	.	612	P51841	GUC2F_HUMAN	L	612	ENSP00000218006:F612L	ENSP00000218006:F612L	F	-	3	2	GUCY2F	108539009	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.596000	0.46205	0.513000	0.28278	0.600000	0.82982	TTC	GUCY2F	-	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,pfscan_Prot_kinase_cat_dom		0.438	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	G	NM_001522		108652353	-1	no_errors	ENST00000218006	ensembl	human	known	70_37	missense	SNP	1.000	T
GVINP1	387751	genome.wustl.edu	37	11	6741666	6741666	+	RNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:6741666A>C	ENST00000526769.3	-	0	1538					NR_003945.1		Q7Z2Y8	GVIN1_HUMAN	GTPase, very large interferon inducible pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AGGATCCTTAAAATTGCTTCT	0.502																																																	0																																												387751			BX538318		11p15.4	2014-03-18	2010-09-28	2010-09-28	ENSG00000254838	ENSG00000254838			25813	pseudogene	pseudogene	"""very large inducible GTPase 1"""		"""GTPase, very large interferon inducible 1"", ""GTPase, very large interferon inducible 1, pseudogene"""	GVIN1, GVIN1P		12874213, 19369598	Standard	NR_003945		Approved	VLIG-1, FLJ13373, VLIG1	uc001meo.4	Q7Z2Y8	OTTHUMG00000165506		11.37:g.6741666A>C			A6NFL2|Q9H8N5	RNA	SNP	-	NULL	ENST00000526769.3	37	NULL		11																																																																																			GVINP1	-	-		0.502	GVINP1-002	KNOWN	basic|exp_conf	processed_transcript	GVINP1	HGNC	pseudogene	OTTHUMT00000386960.3	A	NR_003945		6741666	-1	no_errors	ENST00000526769	ensembl	human	known	70_37	rna	SNP	1.000	C
HABP2	3026	genome.wustl.edu	37	10	115343959	115343959	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:115343959C>T	ENST00000351270.3	+	11	1386	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y	HABP2_ENST00000542051.1_Silent_p.Y404Y	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	430	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.Y430Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AATCCAAATACGTGAAGACTG	0.507																																																	1	Substitution - coding silent(1)	large_intestine(1)											261.0	210.0	227.0					10																	115343959		2203	4300	6503	SO:0001819	synonymous_variant	3026				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1290C>T	10.37:g.115343959C>T			A8K467|B7Z8U5|F5H5M6|O00663	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Y430	ENST00000351270.3	37	c.1290	CCDS7577.1	10																																																																																			HABP2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.507	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP2	HGNC	protein_coding	OTTHUMT00000050428.1	C	NM_004132		115343959	+1	no_errors	ENST00000351270	ensembl	human	known	70_37	silent	SNP	0.994	T
HADH	3033	genome.wustl.edu	37	4	108948797	108948797	+	3'UTR	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:108948797T>C	ENST00000510728.1	+	0	130				HADH_ENST00000454409.2_Intron|HADH_ENST00000505878.1_Intron|HADH_ENST00000309522.3_Intron|HADH_ENST00000603302.1_Intron|HADH_ENST00000403312.1_Intron			P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase						cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		AAAGATACCATTTAATGAAAA	0.408																																																	0													49.0	49.0	49.0					4																	108948797		2203	4300	6503	SO:0001624	3_prime_UTR_variant	3033			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000510728.1:c.*127T>C	4.37:g.108948797T>C			B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	RNA	SNP	-	NULL	ENST00000510728.1	37	NULL		4																																																																																			HADH	-	-		0.408	HADH-006	KNOWN	basic	processed_transcript	HADH	HGNC	protein_coding	OTTHUMT00000363714.1	T	NM_005327		108948797	+1	no_errors	ENST00000510728	ensembl	human	known	70_37	rna	SNP	0.001	C
HARS	3035	genome.wustl.edu	37	5	140062703	140062703	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140062703T>G	ENST00000504156.1	-	3	1001	c.282A>C	c.(280-282)acA>acC	p.T94T	HARS_ENST00000448240.1_5'UTR|HARS_ENST00000457527.2_Silent_p.T94T|HARS_ENST00000504366.1_Silent_p.T25T|HARS_ENST00000431330.2_Intron|HARS_ENST00000438307.2_Intron|HARS_ENST00000415192.2_Silent_p.T94T|HARS_ENST00000307633.3_Intron	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	94					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAAATACAGGTGTATCAATGA	0.463																																																	0													160.0	144.0	149.0					5																	140062703		2203	4300	6503	SO:0001819	synonymous_variant	3035			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.282A>C	5.37:g.140062703T>G			B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase	p.T94	ENST00000504156.1	37	c.282	CCDS4237.1	5																																																																																			HARS	-	pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase		0.463	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS	HGNC	protein_coding	OTTHUMT00000251673.2	T	NM_002109		140062703	-1	no_errors	ENST00000504156	ensembl	human	known	70_37	silent	SNP	0.798	G
HAUS1	115106	genome.wustl.edu	37	18	43704826	43704826	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:43704826G>T	ENST00000282058.6	+	7	785	c.705G>T	c.(703-705)aaG>aaT	p.K235N	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Nonsense_Mutation_p.E104*	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	235					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TACCTTTGAAGAAAAAATTGG	0.358																																					NSCLC(79;183 1423 5813 15597 38427)												0													114.0	122.0	120.0					18																	43704826		2203	4300	6503	SO:0001583	missense	115106			AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.705G>T	18.37:g.43704826G>T	ENSP00000282058:p.Lys235Asn		B2RDM7|Q8N837	Nonsense_Mutation	SNP	NULL	p.E104*	ENST00000282058.6	37	c.310	CCDS11928.1	18	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339606	0.60963	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.16	4.28	0.50868	.	0.042393	0.85682	D	0.000000	T	0.71476	0.3344	M	0.77103	2.36	0.53688	D	0.999971	D	0.76494	0.999	D	0.68192	0.956	T	0.72243	-0.4350	9	0.51188	T	0.08	0.0938	8.12	0.30965	0.1835:0.0:0.8165:0.0	.	235	Q96CS2	HAUS1_HUMAN	N	235	.	ENSP00000282058:K235N	K	+	3	2	HAUS1	41958824	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.886000	0.39688	1.289000	0.44618	0.650000	0.86243	AAG	HAUS1	-	NULL		0.358	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS1	HGNC	protein_coding	OTTHUMT00000255885.1	G	NM_138443		43704826	+1	no_errors	ENST00000585518	ensembl	human	putative	70_37	nonsense	SNP	1.000	T
HAUS3	79441	genome.wustl.edu	37	4	2240337	2240337	+	Missense_Mutation	SNP	G	G	T	rs73796992	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:2240337G>T	ENST00000243706.4	-	3	1572	c.1343C>A	c.(1342-1344)aCt>aAt	p.T448N	POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.T448N|HAUS3_ENST00000506763.1_Missense_Mutation_p.T448N	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	448					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTACCTATGAGTAGAATAATC	0.308																																																	0													113.0	116.0	115.0					4																	2240337		2203	4298	6501	SO:0001583	missense	79441			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1343C>A	4.37:g.2240337G>T	ENSP00000243706:p.Thr448Asn		B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	NULL	p.T448N	ENST00000243706.4	37	c.1343	CCDS33941.1	4	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230505	0.39399	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.46819	0.86;0.86	5.76	5.76	0.90799	.	0.214672	0.39615	U	0.001301	T	0.43634	0.1256	L	0.48642	1.525	0.80722	D	1	B;B	0.28584	0.216;0.216	B;B	0.26770	0.073;0.073	T	0.23119	-1.0197	10	0.20519	T	0.43	-39.04	18.9305	0.92563	0.0:0.0:1.0:0.0	.	448;448	B4DF64;Q68CZ6	.;HAUS3_HUMAN	N	448	ENSP00000243706:T448N;ENSP00000392903:T448N	ENSP00000243706:T448N	T	-	2	0	HAUS3	2210135	1.000000	0.71417	0.992000	0.48379	0.498000	0.33706	4.940000	0.63533	2.708000	0.92522	0.591000	0.81541	ACT	HAUS3	-	NULL		0.308	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS3	HGNC	protein_coding	OTTHUMT00000357446.1	G	NM_024511		2240337	-1	no_errors	ENST00000243706	ensembl	human	known	70_37	missense	SNP	0.999	T
HAUS3	79441	genome.wustl.edu	37	4	2240753	2240753	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:2240753A>C	ENST00000243706.4	-	3	1156	c.927T>G	c.(925-927)aaT>aaG	p.N309K	POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.N309K|HAUS3_ENST00000506763.1_Missense_Mutation_p.N309K	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	309					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TAGCATCCAAATTTTCTTTGT	0.323																																																	0													43.0	43.0	43.0					4																	2240753		2201	4297	6498	SO:0001583	missense	79441			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.927T>G	4.37:g.2240753A>C	ENSP00000243706:p.Asn309Lys		B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	NULL	p.N309K	ENST00000243706.4	37	c.927	CCDS33941.1	4	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603773	0.28534	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.39229	1.09;1.09	5.98	3.59	0.41128	.	0.482205	0.20731	U	0.086703	T	0.28566	0.0707	L	0.52364	1.645	0.35012	D	0.757018	B;B	0.11235	0.004;0.002	B;B	0.15484	0.013;0.013	T	0.25916	-1.0118	10	0.02654	T	1	-6.1152	5.8523	0.18699	0.6821:0.0:0.3179:0.0	.	309;309	B4DF64;Q68CZ6	.;HAUS3_HUMAN	K	309	ENSP00000243706:N309K;ENSP00000392903:N309K	ENSP00000243706:N309K	N	-	3	2	HAUS3	2210551	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	1.708000	0.37899	1.083000	0.41159	0.482000	0.46254	AAT	HAUS3	-	NULL		0.323	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS3	HGNC	protein_coding	OTTHUMT00000357446.1	A	NM_024511		2240753	-1	no_errors	ENST00000243706	ensembl	human	known	70_37	missense	SNP	1.000	C
HAUS6	54801	genome.wustl.edu	37	9	19086756	19086756	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:19086756A>G	ENST00000380502.3	-	7	1142	c.675T>C	c.(673-675)agT>agC	p.S225S	HAUS6_ENST00000380496.1_Silent_p.S89S|Y_RNA_ENST00000364248.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	225					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTCCATATTACTGTGGTCAT	0.274																																																	0													40.0	42.0	41.0					9																	19086756		2191	4292	6483	SO:0001819	synonymous_variant	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.675T>C	9.37:g.19086756A>G			B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	NULL	p.S225	ENST00000380502.3	37	c.675	CCDS6489.1	9																																																																																			HAUS6	-	NULL		0.274	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	A	NM_017645		19086756	-1	no_errors	ENST00000380502	ensembl	human	known	70_37	silent	SNP	0.075	G
HAUS6	54801	genome.wustl.edu	37	9	19096727	19096727	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:19096727T>G	ENST00000380502.3	-	2	636	c.169A>C	c.(169-171)Att>Ctt	p.I57L		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	57					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAATAAGAAATTATATGAAAG	0.284																																																	0													48.0	53.0	51.0					9																	19096727		2203	4298	6501	SO:0001583	missense	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.169A>C	9.37:g.19096727T>G	ENSP00000369871:p.Ile57Leu		B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.I57L	ENST00000380502.3	37	c.169	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	T	16.33	3.094106	0.56075	.	.	ENSG00000147874	ENST00000380502	T	0.23754	1.89	5.25	4.36	0.52297	.	0.055862	0.64402	D	0.000001	T	0.14527	0.0351	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04140	-1.0974	10	0.48119	T	0.1	-9.9312	13.2482	0.60036	0.0:0.9218:0.0:0.0782	.	57	Q7Z4H7	HAUS6_HUMAN	L	57	ENSP00000369871:I57L	ENSP00000369871:I57L	I	-	1	0	HAUS6	19086727	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.664000	0.54525	1.343000	0.45638	-0.147000	0.13772	ATT	HAUS6	-	NULL		0.284	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	T	NM_017645		19096727	-1	no_errors	ENST00000380502	ensembl	human	known	70_37	missense	SNP	1.000	G
HBS1L	10767	genome.wustl.edu	37	6	135358048	135358048	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:135358048C>T	ENST00000367837.5	-	4	637				HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.R516Q|HBS1L_ENST00000367820.2_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AACTTTAGTTCGTGATGATGG	0.363																																																	0													47.0	42.0	44.0					6																	135358048		692	1591	2283	SO:0001627	intron_variant	10767			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.430+2662G>A	6.37:g.135358048C>T			B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	pfam_DUF1916	p.R516Q	ENST00000367837.5	37	c.1547	CCDS5173.1	6	.	.	.	.	.	.	.	.	.	.	C	4.601	0.111677	0.08831	.	.	ENSG00000112339	ENST00000367822	.	.	.	5.32	1.53	0.23141	.	.	.	.	.	T	0.16811	0.0404	.	.	.	0.43919	D	0.996568	B	0.28933	0.228	B	0.22386	0.039	T	0.05784	-1.0864	7	0.23891	T	0.37	.	8.0185	0.30395	0.0:0.4937:0.0:0.5063	.	516	Q9Y450-2	.	Q	516	.	ENSP00000356796:R516Q	R	-	2	0	HBS1L	135399741	0.930000	0.31532	0.116000	0.21606	0.249000	0.25844	0.435000	0.21510	0.055000	0.16094	0.655000	0.94253	CGA	HBS1L	-	NULL		0.363	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	C			135358048	-1	no_errors	ENST00000367822	ensembl	human	known	70_37	missense	SNP	0.604	T
HCN1	348980	genome.wustl.edu	37	5	45262042	45262042	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:45262042C>T	ENST00000303230.4	-	8	2711	c.2654G>A	c.(2653-2655)cGa>cAa	p.R885Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	885					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAAGCAAATCGTGGCTTTTC	0.448																																																	0													92.0	108.0	102.0					5																	45262042		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2654G>A	5.37:g.45262042C>T	ENSP00000307342:p.Arg885Gln			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R885Q	ENST00000303230.4	37	c.2654	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644976	0.47258	.	.	ENSG00000164588	ENST00000303230	D	0.98075	-4.7	5.01	5.01	0.66863	.	0.128326	0.34411	N	0.003986	D	0.93051	0.7788	L	0.27053	0.805	0.35501	D	0.799797	P	0.47545	0.897	B	0.33339	0.162	D	0.95474	0.8554	10	0.66056	D	0.02	.	12.107	0.53818	0.0:0.9211:0.0:0.0789	.	885	O60741	HCN1_HUMAN	Q	885	ENSP00000307342:R885Q	ENSP00000307342:R885Q	R	-	2	0	HCN1	45297799	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	3.508000	0.53378	2.487000	0.83934	0.651000	0.88453	CGA	HCN1	-	NULL		0.448	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	C	NM_021072		45262042	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	1.000	T
HCN1	348980	genome.wustl.edu	37	5	45303915	45303915	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:45303915T>G	ENST00000303230.4	-	6	1461	c.1404A>C	c.(1402-1404)aaA>aaC	p.K468N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	468					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TAGCCACCAGTTTCCGACAGT	0.358																																																	0													102.0	106.0	105.0					5																	45303915		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1404A>C	5.37:g.45303915T>G	ENSP00000307342:p.Lys468Asn			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.K468N	ENST00000303230.4	37	c.1404	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	T	14.29	2.491886	0.44352	.	.	ENSG00000164588	ENST00000303230	D	0.96830	-4.14	5.62	-0.862	0.10673	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000001	D	0.89928	0.6857	N	0.25647	0.755	0.49299	D	0.999776	B	0.31040	0.305	B	0.21151	0.033	T	0.81239	-0.1023	10	0.34782	T	0.22	.	11.0692	0.47993	0.0:0.4662:0.0:0.5338	.	468	O60741	HCN1_HUMAN	N	468	ENSP00000307342:K468N	ENSP00000307342:K468N	K	-	3	2	HCN1	45339672	0.985000	0.35326	0.996000	0.52242	0.998000	0.95712	0.218000	0.17622	-0.056000	0.13221	0.533000	0.62120	AAA	HCN1	-	superfamily_cNMP-bd-like		0.358	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	T	NM_021072		45303915	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	1.000	G
HCN1	348980	genome.wustl.edu	37	5	45645494	45645494	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:45645494C>A	ENST00000303230.4	-	2	699	c.642G>T	c.(640-642)aaG>aaT	p.K214N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	214					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AATAATTCATCTTGATCACTT	0.368																																																	0													89.0	83.0	85.0					5																	45645494		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.642G>T	5.37:g.45645494C>A	ENSP00000307342:p.Lys214Asn			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.K214N	ENST00000303230.4	37	c.642	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647589	0.67358	.	.	ENSG00000164588	ENST00000303230	D	0.97994	-4.65	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.64402	D	0.000009	D	0.97300	0.9117	M	0.61703	1.905	0.53688	D	0.999974	P	0.52170	0.951	P	0.53490	0.727	D	0.96837	0.9615	10	0.66056	D	0.02	.	9.7534	0.40490	0.0:0.8464:0.0:0.1536	.	214	O60741	HCN1_HUMAN	N	214	ENSP00000307342:K214N	ENSP00000307342:K214N	K	-	3	2	HCN1	45681251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.429000	0.44758	2.520000	0.84964	0.555000	0.69702	AAG	HCN1	-	pfam_Ion_trans_dom		0.368	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	C	NM_021072		45645494	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	1.000	A
HCRTR2	3062	genome.wustl.edu	37	6	55128539	55128539	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:55128539C>A	ENST00000370862.3	+	4	1017	c.681C>A	c.(679-681)ttC>ttA	p.F227L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	227					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)	p.F227L(1)		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)			ACATCTGTTTCTTTCTGGTGA	0.363																																																	1	Substitution - Missense(1)	lung(1)											135.0	112.0	120.0					6																	55128539		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.681C>A	6.37:g.55128539C>A	ENSP00000359899:p.Phe227Leu		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.F227L	ENST00000370862.3	37	c.681	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	C	9.200	1.028198	0.19512	.	.	ENSG00000137252	ENST00000370862	T	0.70986	-0.53	5.75	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	N	0.02736	-0.51	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.11329	0.002;0.006	T	0.38585	-0.9654	10	0.02654	T	1	.	6.9245	0.24408	0.0:0.8048:0.0:0.1952	.	227;227	Q548Y0;O43614	.;OX2R_HUMAN	L	227	ENSP00000359899:F227L	ENSP00000359899:F227L	F	+	3	2	HCRTR2	55236498	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.310000	0.43708	2.721000	0.93114	0.603000	0.83216	TTC	HCRTR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn		0.363	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	C			55128539	+1	no_errors	ENST00000370862	ensembl	human	known	70_37	missense	SNP	1.000	A
HDAC3	8841	genome.wustl.edu	37	5	141007487	141007487	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:141007487C>T	ENST00000305264.3	-	10	882	c.803G>A	c.(802-804)tGc>tAc	p.C268Y	HDAC3_ENST00000469207.1_5'Flank|AC008781.7_ENST00000422040.2_RNA	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	268	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GAGGTTAAAGCAGCCCAATCG	0.512																																																	0													127.0	114.0	118.0					5																	141007487		2203	4300	6503	SO:0001583	missense	8841			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.803G>A	5.37:g.141007487C>T	ENSP00000302967:p.Cys268Tyr		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.C268Y	ENST00000305264.3	37	c.803	CCDS4264.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869210	0.91587	.	.	ENSG00000171720	ENST00000305264;ENST00000523353;ENST00000523088	T;T;T	0.69435	-0.4;-0.4;-0.4	5.37	5.37	0.77165	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87471	0.2414	10	0.87932	D	0	-24.139	18.9064	0.92464	0.0:1.0:0.0:0.0	.	268	O15379	HDAC3_HUMAN	Y	268;77;193	ENSP00000302967:C268Y;ENSP00000430667:C77Y;ENSP00000429099:C193Y	ENSP00000302967:C268Y	C	-	2	0	HDAC3	140987671	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.627000	0.83176	2.788000	0.95919	0.650000	0.86243	TGC	HDAC3	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1		0.512	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2	C	NM_003883		141007487	-1	no_errors	ENST00000305264	ensembl	human	known	70_37	missense	SNP	1.000	T
HDAC5	10014	genome.wustl.edu	37	17	42160003	42160003	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:42160003T>C	ENST00000393622.2	-	20	2888	c.2557A>G	c.(2557-2559)Aaa>Gaa	p.K853E	HDAC5_ENST00000336057.5_Missense_Mutation_p.K768E|HDAC5_ENST00000225983.6_Missense_Mutation_p.K854E|HDAC5_ENST00000586802.1_Missense_Mutation_p.K853E	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	853	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|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 gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGTAGGAGTTTTGCGGTGATG	0.577																																																	0													108.0	95.0	99.0					17																	42160003		2203	4300	6503	SO:0001583	missense	10014			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2557A>G	17.37:g.42160003T>C	ENSP00000377244:p.Lys853Glu		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.K854E	ENST00000393622.2	37	c.2560	CCDS45696.1	17	.	.	.	.	.	.	.	.	.	.	T	28.5	4.928678	0.92389	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.70516	-0.49;-0.49;-0.49	4.98	4.98	0.66077	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	L	0.46157	1.445	0.80722	D	1	D;P;P;P	0.76494	0.999;0.921;0.825;0.535	D;P;B;P	0.77004	0.989;0.761;0.362;0.622	T	0.80677	-0.1276	10	0.62326	D	0.03	-8.6774	13.6568	0.62344	0.0:0.0:0.0:1.0	.	768;853;854;853	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	E	854;853;768	ENSP00000225983:K854E;ENSP00000377244:K853E;ENSP00000337290:K768E	ENSP00000225983:K854E	K	-	1	0	HDAC5	39515529	1.000000	0.71417	0.991000	0.47740	0.905000	0.53344	8.019000	0.88732	1.879000	0.54435	0.459000	0.35465	AAA	HDAC5	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk		0.577	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1	T	NM_001015053		42160003	-1	no_errors	ENST00000225983	ensembl	human	known	70_37	missense	SNP	1.000	C
HDAC5	10014	genome.wustl.edu	37	17	42171013	42171013	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:42171013A>G	ENST00000393622.2	-	4	615	c.284T>C	c.(283-285)tTc>tCc	p.F95S	HDAC5_ENST00000336057.5_Missense_Mutation_p.F95S|HDAC5_ENST00000225983.6_Missense_Mutation_p.F96S|HDAC5_ENST00000586802.1_Missense_Mutation_p.F95S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	95					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|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 gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GAACTCAGCGAACAGGAgctg	0.642																																																	0													17.0	17.0	17.0					17																	42171013		2199	4289	6488	SO:0001583	missense	10014			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.284T>C	17.37:g.42171013A>G	ENSP00000377244:p.Phe95Ser		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F96S	ENST00000393622.2	37	c.287	CCDS45696.1	17	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729163	0.69074	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.04406	3.63;3.63;3.63	4.16	4.16	0.48862	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.64402	D	0.000002	T	0.15609	0.0376	L	0.54323	1.7	0.58432	D	0.999995	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.79108	0.986;0.992;0.986;0.992	T	0.00461	-1.1725	10	0.59425	D	0.04	-15.1718	12.1553	0.54072	1.0:0.0:0.0:0.0	.	95;95;96;95	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	S	96;95;95	ENSP00000225983:F96S;ENSP00000377244:F95S;ENSP00000337290:F95S	ENSP00000225983:F96S	F	-	2	0	HDAC5	39526539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.859000	0.92264	1.520000	0.48965	0.379000	0.24179	TTC	HDAC5	-	pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk		0.642	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1	A	NM_001015053		42171013	-1	no_errors	ENST00000225983	ensembl	human	known	70_37	missense	SNP	1.000	G
HDAC8	55869	genome.wustl.edu	37	X	71788729	71788729	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:71788729A>C	ENST00000373573.3	-	3	511	c.170T>G	c.(169-171)gTt>gGt	p.V57G	HDAC8_ENST00000373554.1_Missense_Mutation_p.V57G|HDAC8_ENST00000373560.2_Missense_Mutation_p.V57G|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000439122.2_Missense_Mutation_p.V57G|HDAC8_ENST00000373556.3_Missense_Mutation_p.V57G|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373571.1_Missense_Mutation_p.V57G|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.V57G	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	57	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTTAGGCTTAACTATCCTAAT	0.473																																																	0													58.0	45.0	49.0					X																	71788729		2203	4300	6503	SO:0001583	missense	55869			AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.170T>G	X.37:g.71788729A>C	ENSP00000362674:p.Val57Gly		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.V57G	ENST00000373573.3	37	c.170	CCDS14420.1	X	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798492	0.50208	.	.	ENSG00000147099	ENST00000373573;ENST00000415409;ENST00000373571;ENST00000439122;ENST00000373560;ENST00000373561;ENST00000421523;ENST00000373556;ENST00000373554	T;T;T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	4.42	4.42	0.53409	Histone deacetylase domain (2);	0.117845	0.56097	D	0.000031	T	0.81221	0.4777	M	0.77712	2.385	0.80722	D	1	D;D	0.65815	0.995;0.982	P;P	0.54924	0.764;0.676	D	0.83810	0.0241	10	0.87932	D	0	-9.6541	11.1203	0.48287	1.0:0.0:0.0:0.0	.	57;57	B4DV22;Q9BY41	.;HDAC8_HUMAN	G	57;57;57;57;57;57;18;57;57	ENSP00000362674:V57G;ENSP00000396424:V57G;ENSP00000362672:V57G;ENSP00000414486:V57G;ENSP00000362661:V57G;ENSP00000362662:V57G;ENSP00000398997:V18G;ENSP00000362657:V57G;ENSP00000362655:V57G	ENSP00000362655:V57G	V	-	2	0	HDAC8	71705454	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	8.803000	0.91915	1.700000	0.51204	0.417000	0.27973	GTT	HDAC8	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1		0.473	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC8	HGNC	protein_coding	OTTHUMT00000057193.2	A	NM_018486		71788729	-1	no_errors	ENST00000373573	ensembl	human	known	70_37	missense	SNP	1.000	C
HDAC9	9734	genome.wustl.edu	37	7	18669010	18669010	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:18669010A>C	ENST00000432645.2	+	6	693	c.693A>C	c.(691-693)aaA>aaC	p.K231N	HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000456174.2_Missense_Mutation_p.K203N|HDAC9_ENST00000441542.2_Missense_Mutation_p.K234N|HDAC9_ENST00000405010.3_Missense_Mutation_p.K231N|HDAC9_ENST00000406451.4_Missense_Mutation_p.K231N|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000524023.1_Intron	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	231	Interaction with ETV6.|Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCAGGTTAAAACAGAAAGTGG	0.418																																																	0													56.0	55.0	56.0					7																	18669010		1910	4123	6033	SO:0001583	missense	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.693A>C	7.37:g.18669010A>C	ENSP00000410337:p.Lys231Asn		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.K234N	ENST00000432645.2	37	c.702	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645533	0.67358	.	.	ENSG00000048052	ENST00000405010;ENST00000406451;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000341009	T;T;T;T;T	0.74209	-0.26;-0.7;-0.82;-0.79;-0.35	5.95	4.8	0.61643	.	0.000000	0.64402	D	0.000007	D	0.86443	0.5934	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;0.999;0.998;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.994;0.997;0.991;0.997;0.994;0.987;0.997;0.997	D	0.87628	0.2514	10	0.87932	D	0	-28.6217	11.7514	0.51852	0.9317:0.0:0.0683:0.0	.	203;231;234;234;231;203;231;231	C9JS87;Q9UKV0-4;Q68D71;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3	.;.;.;.;HDAC9_HUMAN;.;.;.	N	231;231;231;234;203;231	ENSP00000384382:K231N;ENSP00000384657:K231N;ENSP00000410337:K231N;ENSP00000408617:K234N;ENSP00000388568:K203N	ENSP00000339165:K231N	K	+	3	2	HDAC9	18635535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.426000	0.52778	1.083000	0.41159	0.460000	0.39030	AAA	HDAC9	-	pirsf_Histone_deAcase_II_euk		0.418	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	A			18669010	+1	no_errors	ENST00000441542	ensembl	human	known	70_37	missense	SNP	1.000	C
HDLBP	3069	genome.wustl.edu	37	2	242174571	242174571	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:242174571G>A	ENST00000391975.1	-	23	3336	c.3109C>T	c.(3109-3111)Cgt>Tgt	p.R1037C	HDLBP_ENST00000310931.4_Missense_Mutation_p.R1037C|HDLBP_ENST00000391976.2_Missense_Mutation_p.R1037C|HDLBP_ENST00000427183.2_Missense_Mutation_p.R1004C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1037	KH 12. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TCCTTCACACGCTCCAGCAGT	0.622																																																	0													63.0	55.0	58.0					2																	242174571		2203	4300	6503	SO:0001583	missense	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3109C>T	2.37:g.242174571G>A	ENSP00000375836:p.Arg1037Cys		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.R1037C	ENST00000391975.1	37	c.3109	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.982318|3.982318	0.74474|0.74474	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94	5.49|5.49	3.7|3.7	0.42460|0.42460	.|K Homology (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61110|0.61110	0.2321|0.2321	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.8;1.0	.|B;D	.|0.75020	.|0.379;0.985	T|T	0.62048|0.62048	-0.6936|-0.6936	5|10	.|0.72032	.|D	.|0.01	-17.6615|-17.6615	7.438|7.438	0.27166|0.27166	0.1445:0.0:0.692:0.1634|0.1445:0.0:0.692:0.1634	.|.	.|1004;1037	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	V|C	845|1037;1037;1037;1004	.|ENSP00000375836:R1037C;ENSP00000375837:R1037C;ENSP00000312042:R1037C;ENSP00000399139:R1004C	.|ENSP00000312042:R1037C	A|R	-|-	2|1	0|0	HDLBP|HDLBP	241823244|241823244	1.000000|1.000000	0.71417|0.71417	0.065000|0.065000	0.19835|0.19835	0.755000|0.755000	0.42902|0.42902	5.134000|5.134000	0.64770|0.64770	0.809000|0.809000	0.34255|0.34255	0.557000|0.557000	0.71058|0.71058	GCG|CGT	HDLBP	-	smart_KH_dom		0.622	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	G	NM_203346		242174571	-1	no_errors	ENST00000310931	ensembl	human	known	70_37	missense	SNP	0.994	A
MROH2B	133558	genome.wustl.edu	37	5	41048537	41048537	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:41048537A>C	ENST00000399564.4	-	16	2023	c.1573T>G	c.(1573-1575)Tta>Gta	p.L525V	MROH2B_ENST00000506092.2_Missense_Mutation_p.L80V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	525																	GCCCCACGTAACTCCCCTAAA	0.438																																																	0													83.0	77.0	78.0					5																	41048537		1865	4100	5965	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1573T>G	5.37:g.41048537A>C	ENSP00000382476:p.Leu525Val		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L525V	ENST00000399564.4	37	c.1573	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	A	6.167	0.399070	0.11696	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.07688	3.17;3.17	4.87	3.73	0.42828	Armadillo-type fold (1);	0.818936	0.10365	N	0.683575	T	0.07052	0.0179	L	0.47716	1.5	0.09310	N	1	P	0.37330	0.59	B	0.30572	0.117	T	0.23332	-1.0191	10	0.23891	T	0.37	.	6.6699	0.23062	0.8973:0.0:0.1027:0.0	.	525	Q7Z745	HTRB2_HUMAN	V	80;229;525	ENSP00000441504:L80V;ENSP00000382476:L525V	ENSP00000296803:L229V	L	-	1	2	HEATR7B2	41084294	0.358000	0.24947	0.612000	0.29024	0.085000	0.17905	2.536000	0.45693	2.168000	0.68352	0.533000	0.62120	TTA	HEATR7B2	-	superfamily_ARM-type_fold		0.438	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	A	NM_173489		41048537	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	0.083	C
HEPACAM	220296	genome.wustl.edu	37	11	124793851	124793851	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:124793851G>A	ENST00000298251.4	-	3	888	c.483C>T	c.(481-483)agC>agT	p.S161S		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGAAGGCCTCGCTGAGCTCCA	0.567																																																	0													77.0	61.0	66.0					11																	124793851		2201	4299	6500	SO:0001819	synonymous_variant	220296			AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.483C>T	11.37:g.124793851G>A				Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S161	ENST00000298251.4	37	c.483	CCDS8456.1	11																																																																																			HEPACAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.567	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPACAM	HGNC	protein_coding	OTTHUMT00000387125.1	G	NM_152722		124793851	-1	no_errors	ENST00000298251	ensembl	human	known	70_37	silent	SNP	0.857	A
HERC2	8924	genome.wustl.edu	37	15	28436121	28436121	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:28436121T>C	ENST00000261609.7	-	55	8747	c.8639A>G	c.(8638-8640)gAc>gGc	p.D2880G		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCTGTGCAGTCATTCAGAAG	0.408																																																	0													117.0	111.0	113.0					15																	28436121		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8639A>G	15.37:g.28436121T>C	ENSP00000261609:p.Asp2880Gly			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.D2880G	ENST00000261609.7	37	c.8639	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	27.4	4.831174	0.91036	.	.	ENSG00000128731	ENST00000261609	T	0.65549	-0.16	5.76	5.76	0.90799	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.103369	0.64402	D	0.000006	T	0.74951	0.3784	L	0.50333	1.59	0.80722	D	1	P;D	0.69078	0.826;0.997	B;D	0.79108	0.294;0.992	T	0.76473	-0.2946	10	0.62326	D	0.03	.	16.3611	0.83269	0.0:0.0:0.0:1.0	.	347;2880	A8KAQ8;O95714	.;HERC2_HUMAN	G	2880	ENSP00000261609:D2880G	ENSP00000261609:D2880G	D	-	2	0	HERC2	26109716	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.431000	0.80335	2.319000	0.78375	0.523000	0.50628	GAC	HERC2	-	superfamily_Galactose-bd-like		0.408	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	T	NM_004667		28436121	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	1.000	C
HERC1	8925	genome.wustl.edu	37	15	63964722	63964722	+	Missense_Mutation	SNP	G	G	A	rs375309992		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:63964722G>A	ENST00000443617.2	-	39	8105	c.8018C>T	c.(8017-8019)cCg>cTg	p.P2673L	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2673					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CATCACTCCCGGGGACTCGGA	0.512																																																	0								G	LEU/PRO	1,4031		0,1,2015	66.0	67.0	67.0		8018	6.1	1.0	15		67	0,8364		0,0,4182	no	missense	HERC1	NM_003922.3	98	0,1,6197	AA,AG,GG		0.0,0.0248,0.0081	probably-damaging	2673/4862	63964722	1,12395	2016	4182	6198	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8018C>T	15.37:g.63964722G>A	ENSP00000390158:p.Pro2673Leu		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.P2673L	ENST00000443617.2	37	c.8018	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.414903	0.96092	2.48E-4	0.0	ENSG00000103657	ENST00000443617	T	0.22743	1.94	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04140	-1.0974	10	0.45353	T	0.12	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	2673	Q15751	HERC1_HUMAN	L	2673	ENSP00000390158:P2673L	ENSP00000390158:P2673L	P	-	2	0	HERC1	61751775	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.787000	0.99055	2.885000	0.99019	0.655000	0.94253	CCG	HERC1	-	NULL		0.512	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	G	NM_003922		63964722	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	A
HERC2P4	100289574	genome.wustl.edu	37	16	32164214	32164214	+	IGR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:32164214G>T								RP11-1166P10.6 (68108 upstream) : HERC2P4 (17090 downstream)																							AGCTCCCCAAGAAGTCAAACA	0.557																																																	0																																										SO:0001628	intergenic_variant	100289574																															16.37:g.32164214G>T				RNA	SNP	-	NULL		37	NULL		16																																																																																			HERC2P4	-	-	0	0.557					HERC2P4	HGNC			G			32164214	-1	no_errors	ENST00000563904	ensembl	human	known	70_37	rna	SNP	1.000	T
HERC4	26091	genome.wustl.edu	37	10	69748552	69748552	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:69748552C>A	ENST00000395198.3	-	15	1921	c.1674G>T	c.(1672-1674)aaG>aaT	p.K558N	HERC4_ENST00000412272.2_Missense_Mutation_p.K558N|HERC4_ENST00000277817.6_Missense_Mutation_p.K448N|HERC4_ENST00000373700.4_Missense_Mutation_p.K558N|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	558					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GTTCTACTATCTTGAGGAATA	0.308																																																	0													107.0	117.0	114.0					10																	69748552		2202	4295	6497	SO:0001583	missense	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1674G>T	10.37:g.69748552C>A	ENSP00000378624:p.Lys558Asn		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.K558N	ENST00000395198.3	37	c.1674	CCDS41533.1	10	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952691	0.53293	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.48836	1.06;0.81;0.81;0.8	5.49	5.49	0.81192	.	0.042647	0.85682	D	0.000000	T	0.45296	0.1335	L	0.48642	1.525	0.80722	D	1	P;P;B;P;P;P	0.51933	0.949;0.696;0.148;0.57;0.696;0.57	P;B;B;B;B;B	0.46543	0.52;0.433;0.119;0.25;0.433;0.25	T	0.47699	-0.9097	10	0.72032	D	0.01	.	9.3873	0.38352	0.0:0.8016:0.0:0.1984	.	558;448;558;408;558;558	Q5GLZ8-3;Q5GLZ8-6;A8K9U4;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;.;HERC4_HUMAN	N	448;558;558;558	ENSP00000277817:K448N;ENSP00000416504:K558N;ENSP00000378624:K558N;ENSP00000362804:K558N	ENSP00000277817:K448N	K	-	3	2	HERC4	69418558	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.593000	0.36686	2.565000	0.86533	0.655000	0.94253	AAG	HERC4	-	NULL		0.308	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	C	NM_015601		69748552	-1	no_errors	ENST00000395198	ensembl	human	known	70_37	missense	SNP	1.000	A
HERC6	55008	genome.wustl.edu	37	4	89304372	89304372	+	Splice_Site	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:89304372G>T	ENST00000264346.7	+	2	258		c.e2-1		HERC6_ENST00000380265.5_Splice_Site|HERC6_ENST00000273960.3_Splice_Site	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6						hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GTTTCCCAAAGAACCAATTCA	0.458																																																	0													34.0	34.0	34.0					4																	89304372		1870	4103	5973	SO:0001630	splice_region_variant	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.200-1G>T	4.37:g.89304372G>T			B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Splice_Site	SNP	-	e2-1	ENST00000264346.7	37	c.200-1	CCDS47098.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.159400|3.159400	0.57368|0.57368	.|.	.|.	ENSG00000138642|ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346|ENST00000502870	.|T	.|0.79940	.|-1.32	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|.	.|.	.|.	.|.	.|D	.|0.87665	.|0.6234	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.89092	.|0.3483	.|6	.|0.66056	.|D	.|0.02	.|.	16.6188|16.6188	0.84924|0.84924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|31	.|ENSP00000425060:K31N	.|ENSP00000425060:K31N	.|K	+|+	.|3	.|2	HERC6|HERC6	89523395|89523395	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.645000|0.645000	0.38454|0.38454	8.007000|8.007000	0.88571|0.88571	2.455000|2.455000	0.83008|0.83008	0.485000|0.485000	0.47835|0.47835	.|AAG	HERC6	-	-		0.458	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	G		Intron	89304372	+1	no_errors	ENST00000264346	ensembl	human	known	70_37	splice_site	SNP	1.000	T
HEXDC	284004	genome.wustl.edu	37	17	80377706	80377706	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:80377706T>A	ENST00000327949.9	+	1	42	c.31T>A	c.(31-33)Tta>Ata	p.L11I	Y_RNA_ENST00000364369.1_RNA|HEXDC_ENST00000577944.1_Missense_Mutation_p.L11I|OGFOD3_ENST00000313056.5_5'Flank|OGFOD3_ENST00000329197.5_5'Flank|HEXDC_ENST00000337014.6_Missense_Mutation_p.L11I			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	11					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCAGATGAGATTAGTTCATTT	0.433																																																	0													92.0	93.0	93.0					17																	80377706		1877	4089	5966	SO:0001583	missense	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.31T>A	17.37:g.80377706T>A	ENSP00000332634:p.Leu11Ile		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.L11I	ENST00000327949.9	37	c.31		17	.	.	.	.	.	.	.	.	.	.	T	8.265	0.811958	0.16537	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.90004	-2.6;-2.6	4.97	-5.98	0.02220	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.320200	0.25427	N	0.030760	T	0.76863	0.4047	L	0.31294	0.92	0.09310	N	1	P;B	0.44578	0.838;0.14	B;B	0.37692	0.256;0.122	T	0.72141	-0.4380	10	0.24483	T	0.36	-0.3699	13.7897	0.63133	0.0:0.7021:0.1369:0.161	.	11;11	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	I	11	ENSP00000337854:L11I;ENSP00000332634:L11I	ENSP00000332634:L11I	L	+	1	2	HEXDC	77970995	0.040000	0.19996	0.000000	0.03702	0.096000	0.18686	-0.678000	0.05209	-1.158000	0.02811	-0.899000	0.02877	TTA	HEXDC	-	superfamily_Glycoside_hydrolase_SF		0.433	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1	T	NM_173620		80377706	+1	no_errors	ENST00000337014	ensembl	human	known	70_37	missense	SNP	0.000	A
HFE	3077	genome.wustl.edu	37	6	26091204	26091204	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:26091204G>A	ENST00000357618.5	+	2	334	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	HFE_ENST00000336625.8_Missense_Mutation_p.R71Q|HFE_ENST00000488199.1_Intron|HFE_ENST00000349999.4_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.R71Q|HFE_ENST00000397022.3_Missense_Mutation_p.R48Q|HFE_ENST00000317896.7_Missense_Mutation_p.R71Q|HFE_ENST00000309234.6_Missense_Mutation_p.R71Q|HFE_ENST00000470149.1_Missense_Mutation_p.R71Q|HFE_ENST00000353147.5_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	71	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)	p.R71Q(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGAGCCCCGAACTCCATGG	0.507									Hemochromatosis																																								1	Substitution - Missense(1)	large_intestine(1)											103.0	100.0	101.0					6																	26091204		2203	4300	6503	SO:0001583	missense	3077	Familial Cancer Database			CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.212G>A	6.37:g.26091204G>A	ENSP00000417404:p.Arg71Gln		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.R71Q	ENST00000357618.5	37	c.212	CCDS4578.1	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978645	0.74360	.	.	ENSG00000010704	ENST00000397022;ENST00000317896;ENST00000535098;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000309234	D;T;D;D;T;D;D	0.90324	-2.65;5.61;-2.65;-2.65;5.61;-2.65;-2.65	5.3	2.57	0.30868	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.427116	0.19838	N	0.104922	D	0.89230	0.6656	M	0.86097	2.795	0.09310	N	1	D;P;P;D;D;D	0.67145	0.996;0.795;0.795;0.995;0.985;0.996	P;B;B;P;B;P	0.52823	0.71;0.117;0.117;0.587;0.319;0.71	T	0.83330	-0.0013	10	0.87932	D	0	.	7.258	0.26187	0.271:0.0:0.729:0.0	.	71;71;71;71;48;71	Q6B0J5;Q30201-7;Q30201-10;Q30201-3;Q30201-5;Q30201	.;.;.;.;.;HFE_HUMAN	Q	48;71;71;71;71;71;71;71	ENSP00000380217:R48Q;ENSP00000313776:R71Q;ENSP00000417404:R71Q;ENSP00000419725:R71Q;ENSP00000337819:R71Q;ENSP00000420802:R71Q;ENSP00000311698:R71Q	ENSP00000311698:R71Q	R	+	2	0	HFE	26199183	0.072000	0.21174	0.001000	0.08648	0.297000	0.27493	2.992000	0.49417	0.383000	0.24910	0.655000	0.94253	CGA	HFE	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.507	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HFE	HGNC	protein_coding	OTTHUMT00000356133.1	G			26091204	+1	no_errors	ENST00000357618	ensembl	human	known	70_37	missense	SNP	0.001	A
HEY2	23493	genome.wustl.edu	37	6	126080948	126080948	+	Nonstop_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:126080948A>C	ENST00000368364.3	+	5	1211	c.1014A>C	c.(1012-1014)taA>taC	p.*338Y	HEY2_ENST00000368365.1_Nonstop_Mutation_p.*292Y	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	0					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GAGCTTTTTAAATTTTTCTTG	0.468																																																	0													23.0	28.0	26.0					6																	126080948		2203	4300	6503	SO:0001578	stop_lost	23493			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.1014A>C	6.37:g.126080948A>C	ENSP00000357348:p.*338Tyrext*25			Nonstop_Mutation	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom,prints_Antifreeze_1	p.*338Y	ENST00000368364.3	37	c.1014	CCDS5131.1	6	.	.	.	.	.	.	.	.	.	.	A	12.42	1.931685	0.34096	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7287	0.62774	1.0:0.0:0.0:0.0	.	.	.	.	Y	292;338	.	.	X	+	3	2	HEY2	126122641	0.974000	0.33945	0.550000	0.28217	0.807000	0.45602	2.797000	0.47877	1.974000	0.57490	0.459000	0.35465	TAA	HEY2	-	NULL		0.468	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEY2	HGNC	protein_coding	OTTHUMT00000042077.1	A			126080948	+1	no_errors	ENST00000368364	ensembl	human	known	70_37	nonstop	SNP	0.919	C
HHIPL2	79802	genome.wustl.edu	37	1	222712003	222712003	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:222712003C>A	ENST00000343410.6	-	5	1622	c.1564G>T	c.(1564-1566)Gac>Tac	p.D522Y		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	522					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTCATGAAGTCTCCAAAGATA	0.398																																																	0													115.0	98.0	104.0					1																	222712003		2203	4300	6503	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1564G>T	1.37:g.222712003C>A	ENSP00000342118:p.Asp522Tyr		Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.D522Y	ENST00000343410.6	37	c.1564	CCDS1530.2	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523494	0.85600	.	.	ENSG00000143512	ENST00000343410	T	0.13196	2.61	5.2	5.2	0.72013	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Glucose/Sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66945	-0.5795	10	0.87932	D	0	-36.2899	18.328	0.90260	0.0:1.0:0.0:0.0	.	522	Q6UWX4	HIPL2_HUMAN	Y	522	ENSP00000342118:D522Y	ENSP00000342118:D522Y	D	-	1	0	HHIPL2	220778626	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.301000	0.78850	2.391000	0.81399	0.591000	0.81541	GAC	HHIPL2	-	pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH		0.398	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	C	NM_024746		222712003	-1	no_errors	ENST00000343410	ensembl	human	known	70_37	missense	SNP	1.000	A
HIF1A	3091	genome.wustl.edu	37	14	62193397	62193397	+	Intron	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:62193397T>C	ENST00000337138.4	+	5	722				HIF1A_ENST00000557538.1_Intron|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Intron|HIF1A_ENST00000323441.6_Intron|HIF1A_ENST00000394997.1_Intron|HIF1A_ENST00000557206.1_Intron	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)						angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TTAGTTGCTTTAAAACTTTAT	0.348																																																	0													39.0	39.0	39.0					14																	62193397		2203	4300	6503	SO:0001627	intron_variant	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.458-27T>C	14.37:g.62193397T>C			C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	RNA	SNP	-	NULL	ENST00000337138.4	37	NULL	CCDS9753.1	14																																																																																			HIF1A	-	-		0.348	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	T	NM_001530		62193397	+1	no_errors	ENST00000556237	ensembl	human	putative	70_37	rna	SNP	0.003	C
HIF1A	3091	genome.wustl.edu	37	14	62193399	62193399	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:62193399A>C	ENST00000337138.4	+	5	722				HIF1A_ENST00000557538.1_Intron|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Intron|HIF1A_ENST00000323441.6_Intron|HIF1A_ENST00000394997.1_Intron|HIF1A_ENST00000557206.1_Intron	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)						angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	AGTTGCTTTAAAACTTTATTT	0.353																																																	0													40.0	40.0	40.0					14																	62193399		2203	4300	6503	SO:0001627	intron_variant	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.458-25A>C	14.37:g.62193399A>C			C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	RNA	SNP	-	NULL	ENST00000337138.4	37	NULL	CCDS9753.1	14																																																																																			HIF1A	-	-		0.353	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	A	NM_001530		62193399	+1	no_errors	ENST00000556237	ensembl	human	putative	70_37	rna	SNP	0.000	C
HIF1AN	55662	genome.wustl.edu	37	10	102296254	102296254	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:102296254A>C	ENST00000299163.6	+	2	364	c.264A>C	c.(262-264)ggA>ggC	p.G88G	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	88	Interaction with VHL.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|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)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TTGGCAATGGAGACTTCTCTG	0.458																																																	0													108.0	108.0	108.0					10																	102296254		2203	4300	6503	SO:0001819	synonymous_variant	55662			AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.264A>C	10.37:g.102296254A>C			D3DR69|Q5W147|Q969Q7|Q9NPV5	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G88	ENST00000299163.6	37	c.264	CCDS7498.1	10																																																																																			HIF1AN	-	NULL		0.458	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIF1AN	HGNC	protein_coding	OTTHUMT00000049865.5	A	NM_017902		102296254	+1	no_errors	ENST00000299163	ensembl	human	known	70_37	silent	SNP	0.978	C
HIVEP1	3096	genome.wustl.edu	37	6	12015869	12015869	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:12015869G>A	ENST00000379388.2	+	2	340	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	HIVEP1_ENST00000484210.1_Missense_Mutation_p.R3Q	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	3					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R3Q(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGATGCCTCGAACTAAACAA	0.368																																																	1	Substitution - Missense(1)	large_intestine(1)											124.0	120.0	121.0					6																	12015869		1828	4088	5916	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.8G>A	6.37:g.12015869G>A	ENSP00000368698:p.Arg3Gln		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R3Q	ENST00000379388.2	37	c.8	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869938	0.72065	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000478545;ENST00000484210	T	0.14391	2.51	5.42	5.42	0.78866	.	.	.	.	.	T	0.21590	0.0520	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00909	-1.1518	9	0.87932	D	0	-2.4865	16.7144	0.85394	0.0:0.0:1.0:0.0	.	3	P15822	ZEP1_HUMAN	Q	3	ENSP00000368698:R3Q	ENSP00000368698:R3Q	R	+	2	0	HIVEP1	12123855	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.945000	0.70226	2.537000	0.85549	0.655000	0.94253	CGA	HIVEP1	-	NULL		0.368	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12015869	+1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	1.000	A
HIVEP1	3096	genome.wustl.edu	37	6	12120152	12120152	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:12120152T>G	ENST00000379388.2	+	4	456	c.124T>G	c.(124-126)Tcg>Gcg	p.S42A		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	42					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TAAAGGAACTTCGGAATCCCT	0.353																																																	0													152.0	139.0	143.0					6																	12120152		1853	4083	5936	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.124T>G	6.37:g.12120152T>G	ENSP00000368698:p.Ser42Ala		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S42A	ENST00000379388.2	37	c.124	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	T	12.04	1.817189	0.32145	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000442081;ENST00000478545	T	0.08458	3.09	5.79	3.28	0.37604	.	0.000000	0.31760	N	0.007106	T	0.02380	0.0073	L	0.48362	1.52	0.80722	D	1	B	0.22346	0.068	B	0.13407	0.009	T	0.34354	-0.9832	10	0.21540	T	0.41	-10.6081	4.2263	0.10582	0.1845:0.1359:0.0:0.6796	.	42	P15822	ZEP1_HUMAN	A	42;42;42;51;42	ENSP00000368698:S42A	ENSP00000368698:S42A	S	+	1	0	HIVEP1	12228138	0.140000	0.22579	1.000000	0.80357	0.995000	0.86356	1.085000	0.30840	2.207000	0.71202	0.533000	0.62120	TCG	HIVEP1	-	NULL		0.353	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	T	NM_002114		12120152	+1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	0.875	G
HK1	3098	genome.wustl.edu	37	10	71158511	71158511	+	Missense_Mutation	SNP	C	C	T	rs146727978		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:71158511C>T	ENST00000359426.6	+	17	2640	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C	HK1_ENST00000448642.2_Missense_Mutation_p.R881C|HK1_ENST00000404387.2_Missense_Mutation_p.R850C|HK1_ENST00000360289.2_Missense_Mutation_p.R834C|HK1_ENST00000298649.3_Missense_Mutation_p.R845C	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	846	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGATAAGATCCGCGAGAACAG	0.592																																																	0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	102.0	92.0	96.0		2536,2533,2548,2548,2500	4.5	1.0	10	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	HK1	NM_000188.2,NM_033496.2,NM_033497.2,NM_033498.2,NM_033500.2	180,180,180,180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	846/918,845/917,850/922,850/922,834/906	71158511	2,13004	2203	4300	6503	SO:0001583	missense	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.2536C>T	10.37:g.71158511C>T	ENSP00000352398:p.Arg846Cys		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R881C	ENST00000359426.6	37	c.2641	CCDS7292.1	10	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770577	0.69992	0.0	2.33E-4	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8	5.49	4.51	0.55191	Hexokinase, C-terminal (1);	0.051523	0.85682	D	0.000000	D	0.99105	0.9692	M	0.93150	3.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.984	D;D;D;D;B	0.97110	0.992;0.996;1.0;1.0;0.338	D	0.98860	1.0762	10	0.87932	D	0	-7.0642	12.8713	0.57966	0.2391:0.7609:0.0:0.0	.	846;845;881;850;834	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	C	834;881;850;845;846;846	ENSP00000353433:R834C;ENSP00000402103:R881C;ENSP00000384774:R850C;ENSP00000298649:R845C;ENSP00000352398:R846C	ENSP00000298649:R845C	R	+	1	0	HK1	70828517	0.026000	0.19158	0.967000	0.41034	0.849000	0.48306	0.035000	0.13797	2.567000	0.86603	0.563000	0.77884	CGC	HK1	-	pfam_Hexokinase_C		0.592	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK1	HGNC	protein_coding	OTTHUMT00000048429.2	C	NM_000188		71158511	+1	no_errors	ENST00000448642	ensembl	human	known	70_37	missense	SNP	0.995	T
HLA-F	3134	genome.wustl.edu	37	6	29692208	29692208	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:29692208A>G	ENST00000376861.1	+	4	977	c.593A>G	c.(592-594)gAg>gGg	p.E198G	HLA-F_ENST00000434407.2_Missense_Mutation_p.E198G|HLA-F_ENST00000440587.2_Missense_Mutation_p.E80G|HLA-F_ENST00000259951.7_Missense_Mutation_p.E198G|HLA-F_ENST00000334668.4_Missense_Mutation_p.E198G			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	198	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AATGGGAAGGAGACGCTACAG	0.587																																																	0													46.0	47.0	46.0					6																	29692208		1508	2706	4214	SO:0001583	missense	3134			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.593A>G	6.37:g.29692208A>G	ENSP00000366057:p.Glu198Gly		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E198G	ENST00000376861.1	37	c.593	CCDS43438.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	20.9|20.9	4.065939|4.065939	0.76187|0.76187	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000440587;ENST00000434407|ENST00000429294	T;T;T;T;T|.	0.00892|.	5.57;5.57;5.57;5.57;5.57|.	1.63|1.63	1.63|1.63	0.23807|0.23807	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.613380|.	0.04968|.	U|.	0.463348|.	T|T	0.67392|0.67392	0.2888|0.2888	H|H	0.98612|0.98612	4.28|4.28	0.22531|0.22531	N|N	0.999015|0.999015	D;D;D;D|.	0.89917|.	1.0;0.983;0.979;0.979|.	D;D;P;D|.	0.74674|.	0.984;0.925;0.878;0.973|.	T|T	0.59984|0.59984	-0.7351|-0.7351	10|5	0.87932|.	D|.	0|.	.|.	5.2117|5.2117	0.15320|0.15320	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	198;198;198;198|.	A8MVU7;P30511;P30511-3;P30511-2|.	.;HLAF_HUMAN;.;.|.	G|G	198;175;198;198;112;80;198|77	ENSP00000366057:E198G;ENSP00000334263:E198G;ENSP00000259951:E198G;ENSP00000404130:E80G;ENSP00000397376:E198G|.	ENSP00000259951:E198G|.	E|R	+|+	2|1	0|2	HLA-F|HLA-F	29800187|29800187	0.959000|0.959000	0.32827|0.32827	0.994000|0.994000	0.49952|0.49952	0.750000|0.750000	0.42670|0.42670	3.080000|3.080000	0.50112|0.50112	0.724000|0.724000	0.32296|0.32296	0.358000|0.358000	0.22013|0.22013	GAG|AGA	HLA-F	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.587	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	HGNC	protein_coding	OTTHUMT00000195083.1	A	NM_018950		29692208	+1	no_errors	ENST00000259951	ensembl	human	known	70_37	missense	SNP	0.988	G
HLA-A	3105	genome.wustl.edu	37	6	29911919	29911919	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:29911919A>C	ENST00000396634.1	+	6	981	c.640A>C	c.(640-642)Acc>Ccc	p.T214P	HLA-A_ENST00000376806.5_Missense_Mutation_p.T214P|HLA-A_ENST00000376809.5_Missense_Mutation_p.T214P|HLA-A_ENST00000376802.2_Missense_Mutation_p.T214P			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	214	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GACACATATGACCCACCACCC	0.587									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													107.0	136.0	126.0					6																	29911919		1507	2707	4214	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.640A>C	6.37:g.29911919A>C	ENSP00000379873:p.Thr214Pro		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.T214P	ENST00000396634.1	37	c.640	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	9.940	1.217149	0.22373	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	3.69	1.1	0.20463	Immunoglobulin-like (4);Immunoglobulin-like fold (4);	0.756506	0.10851	U	0.627145	T	0.30103	0.0754	H	0.96970	3.915	0.09310	N	1	B;P;B;P;P;D;P	0.53462	0.315;0.893;0.306;0.784;0.695;0.96;0.784	B;D;P;D;P;D;D	0.65323	0.27;0.934;0.733;0.934;0.883;0.934;0.934	T	0.06698	-1.0812	10	0.87932	D	0	.	5.6038	0.17369	0.7576:0.0:0.2424:0.0	.	93;214;214;214;214;214;214	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	P	214;214;2;214;214	ENSP00000379873:T214P;ENSP00000366002:T214P;ENSP00000366005:T214P;ENSP00000365998:T214P	ENSP00000365998:T214P	T	+	1	0	HLA-A	30019898	0.089000	0.21612	0.005000	0.12908	0.005000	0.04900	0.318000	0.19504	0.122000	0.18314	0.397000	0.26171	ACC	HLA-A	-	pfscan_Ig-like		0.587	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	A	NM_002116		29911919	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	missense	SNP	0.033	C
HLF	3131	genome.wustl.edu	37	17	53392589	53392589	+	Splice_Site	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:53392589T>G	ENST00000226067.5	+	3	926	c.453T>G	c.(451-453)ggT>ggG	p.G151G	HLF_ENST00000575345.1_Splice_Site_p.G66G|HLF_ENST00000573945.1_Splice_Site_p.G66G|HLF_ENST00000430986.2_Splice_Site_p.G66G	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	151					multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						TTGTTCCAGGTCAGCTGTTGC	0.498			T	TCF3	ALL																																			Dom	yes		17	17q22	3131	hepatic leukemia factor		L	0													79.0	73.0	75.0					17																	53392589		2203	4300	6503	SO:0001630	splice_region_variant	3131				CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.452-1T>G	17.37:g.53392589T>G			A8K1X8|Q6FHS9	Silent	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.G151	ENST00000226067.5	37	c.453	CCDS11585.1	17																																																																																			HLF	-	NULL		0.498	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLF	HGNC	protein_coding	OTTHUMT00000439185.1	T	NM_002126	Silent	53392589	+1	no_errors	ENST00000226067	ensembl	human	known	70_37	silent	SNP	0.990	G
HMCN1	83872	genome.wustl.edu	37	1	185939558	185939558	+	Silent	SNP	C	C	T	rs373154967		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:185939558C>T	ENST00000271588.4	+	15	2533	c.2304C>T	c.(2302-2304)ggC>ggT	p.G768G	HMCN1_ENST00000367492.2_Silent_p.G768G|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	768	Ig-like C2-type 4.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGATGCTGGCGATTATACCT	0.438																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	149.0	153.0	151.0		2304	-3.1	1.0	1		151	0,8600		0,0,4300	no	coding-synonymous	HMCN1	NM_031935.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		768/5636	185939558	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2304C>T	1.37:g.185939558C>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.G768	ENST00000271588.4	37	c.2304	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	C	NM_031935		185939558	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	silent	SNP	0.888	T
HMCN2	256158	genome.wustl.edu	37	9	133270717	133270717	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:133270717G>T	ENST00000487727.2	+	0	1981							Q8NDA2	HMCN2_HUMAN	hemicentin 2						response to stimulus (GO:0050896)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)										GTGGCACCGAGACGGCATTGT	0.687																																																	0																																										SO:0001624	3_prime_UTR_variant	256158			AK074396		9q34.11	2013-01-29			ENSG00000148357	ENSG00000148357		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21293	protein-coding gene	gene with protein product							Standard	XM_006710218		Approved	DKFZp434P0216, FLJ23816		Q8NDA2	OTTHUMG00000140096	ENST00000487727.2:c.*1978G>T	9.37:g.133270717G>T			Q8N225|Q8TCI8	RNA	SNP	-	NULL	ENST00000487727.2	37	NULL		9																																																																																			HMCN2	-	-		0.687	HMCN2-006	KNOWN	mRNA_start_NF|basic	processed_transcript	HMCN2	HGNC	protein_coding	OTTHUMT00000054659.3	G	XM_175125		133270717	+1	no_errors	ENST00000487727	ensembl	human	known	70_37	rna	SNP	1.000	T
HMGB1P5	10354	genome.wustl.edu	37	3	22423690	22423690	+	RNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:22423690G>T	ENST00000451497.1	+	0	255									high mobility group box 1 pseudogene 5																		ATGTTGCGAAGAAACTGGGAG	0.473																																																	0																																												10354			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22423690G>T				RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-		0.473	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1	G	NG_000897		22423690	+1	no_errors	ENST00000451497	ensembl	human	known	70_37	rna	SNP	1.000	T
HMGXB3	22993	genome.wustl.edu	37	5	149412102	149412102	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:149412102G>A	ENST00000502717.1	+	11	2383	c.1919G>A	c.(1918-1920)cGa>cAa	p.R640Q	HMGXB3_ENST00000503427.1_Missense_Mutation_p.R608Q	NM_014983.2	NP_055798	Q12766	HMGX3_HUMAN	HMG box domain containing 3	886					phosphorylation (GO:0016310)	nucleus (GO:0005634)	DNA binding (GO:0003677)|kinase activity (GO:0016301)			central_nervous_system(1)|endometrium(3)|kidney(3)|skin(2)	9						CACAAACCTCGAATTTGTCCC	0.502																																																	0													113.0	110.0	111.0					5																	149412102		692	1591	2283	SO:0001583	missense	22993			D83778	CCDS54935.1	5q33.1	2011-07-01		2009-01-05	ENSG00000113716	ENSG00000113716		"""High mobility group / Non-canonical"""	28982	protein-coding gene	gene with protein product				HMGX3		8724849	Standard	NM_014983		Approved	SMF, KIAA0194	uc003lrk.4	Q12766	OTTHUMG00000163493	ENST00000502717.1:c.1919G>A	5.37:g.149412102G>A	ENSP00000421917:p.Arg640Gln		G5E9Y4|Q86UG3|Q9UMF4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R640Q	ENST00000502717.1	37	c.1919	CCDS54935.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239557	0.79800	.	.	ENSG00000113716	ENST00000503427;ENST00000502717	T;T	0.40756	1.02;1.02	5.49	5.49	0.81192	.	0.346876	0.30969	N	0.008503	T	0.35970	0.0950	L	0.48362	1.52	0.37386	D	0.912257	B	0.28667	0.219	B	0.16722	0.016	T	0.42103	-0.9471	10	0.87932	D	0	-5.5392	12.7309	0.57197	0.0751:0.0:0.9249:0.0	.	886	Q12766	HMGX3_HUMAN	Q	608;640	ENSP00000422231:R608Q;ENSP00000421917:R640Q	ENSP00000421917:R640Q	R	+	2	0	HMGXB3	149392295	0.951000	0.32395	1.000000	0.80357	0.977000	0.68977	4.819000	0.62664	2.591000	0.87537	0.644000	0.83932	CGA	HMGXB3	-	NULL		0.502	HMGXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGXB3	HGNC	protein_coding	OTTHUMT00000373771.1	G	XM_001717202		149412102	+1	no_errors	ENST00000502717	ensembl	human	known	70_37	missense	SNP	0.997	A
HMMR	3161	genome.wustl.edu	37	5	162900249	162900249	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:162900249G>A	ENST00000358715.3	+	8	748	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	HMMR_ENST00000393915.4_Missense_Mutation_p.E239K|HMMR_ENST00000432118.2_Missense_Mutation_p.E152K|HMMR_ENST00000353866.3_Missense_Mutation_p.E223K			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	238					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GGAATACATCGAAGAAATTAG	0.269																																																	0													32.0	34.0	34.0					5																	162900249		2178	4271	6449	SO:0001583	missense	3161			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.712G>A	5.37:g.162900249G>A	ENSP00000351554:p.Glu238Lys		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	NULL	p.E239K	ENST00000358715.3	37	c.715	CCDS4362.1	5	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194170	0.38707	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	5.61	1.15	0.20763	.	0.587034	0.18601	N	0.136458	T	0.06416	0.0165	L	0.54323	1.7	0.09310	N	0.999999	P;P;P;P	0.39964	0.697;0.519;0.697;0.697	B;B;B;B	0.33339	0.162;0.052;0.103;0.103	T	0.29852	-0.9998	10	0.36615	T	0.2	-10.9908	4.2065	0.10491	0.1022:0.4109:0.3481:0.1388	.	152;239;223;238	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	K	124;223;223;239;215;152;238	ENSP00000400527:E124K;ENSP00000185942:E223K;ENSP00000377492:E239K;ENSP00000402673:E152K;ENSP00000351554:E238K	ENSP00000185942:E223K	E	+	1	0	HMMR	162832827	0.719000	0.27986	0.531000	0.27976	0.931000	0.56810	1.041000	0.30291	0.283000	0.22279	-0.150000	0.13652	GAA	HMMR	-	NULL		0.269	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	G	NM_012484		162900249	+1	no_errors	ENST00000393915	ensembl	human	known	70_37	missense	SNP	0.067	A
HMX3	340784	genome.wustl.edu	37	10	124897036	124897036	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:124897036C>T	ENST00000357878.5	+	2	952	c.863C>T	c.(862-864)gCg>gTg	p.A288V		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	288					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CAGCTGGCGGCGGAGCTGGAG	0.711																																																	0													15.0	19.0	17.0					10																	124897036		2189	4287	6476	SO:0001583	missense	340784				CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.863C>T	10.37:g.124897036C>T	ENSP00000350549:p.Ala288Val		A8MU06	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.A288V	ENST00000357878.5	37	c.863	CCDS41575.1	10	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271722	0.80469	.	.	ENSG00000188620	ENST00000357878	D	0.95518	-3.73	4.92	4.92	0.64577	Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	M	0.80982	2.52	0.80722	D	1	D	0.60575	0.988	P	0.52481	0.7	D	0.96044	0.9026	10	0.38643	T	0.18	.	18.3047	0.90176	0.0:1.0:0.0:0.0	.	288	A6NHT5	HMX3_HUMAN	V	288	ENSP00000350549:A288V	ENSP00000350549:A288V	A	+	2	0	HMX3	124887026	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.596000	0.82721	2.561000	0.86390	0.555000	0.69702	GCG	HMX3	-	superfamily_Homeodomain-like,smart_Homeodomain		0.711	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HMX3	HGNC	protein_coding	OTTHUMT00000050842.4	C	XM_291716		124897036	+1	no_errors	ENST00000357878	ensembl	human	known	70_37	missense	SNP	1.000	T
HNF4A	3172	genome.wustl.edu	37	20	43057043	43057043	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:43057043A>G	ENST00000316099.4	+	9	1287	c.1198A>G	c.(1198-1200)Acc>Gcc	p.T400A	HNF4A_ENST00000316673.4_Missense_Mutation_p.T378A|HNF4A_ENST00000457232.1_Missense_Mutation_p.T378A|HNF4A_ENST00000415691.2_Missense_Mutation_p.T400A	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	400					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACATATGGGAACCAACGTCAT	0.607																																					Colon(79;2 1269 8820 14841 52347)												0													119.0	85.0	97.0					20																	43057043		2203	4300	6503	SO:0001583	missense	3172			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1198A>G	20.37:g.43057043A>G	ENSP00000312987:p.Thr400Ala		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.T400A	ENST00000316099.4	37	c.1198	CCDS13330.1	20	.	.	.	.	.	.	.	.	.	.	A	13.95	2.390950	0.42410	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000338692;ENST00000415691	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.93	4.77	0.60923	.	0.598092	0.18057	N	0.153063	T	0.58764	0.2145	L	0.44542	1.39	0.39055	D	0.960403	B;B;B;B;B	0.21753	0.004;0.033;0.033;0.06;0.004	B;B;B;B;B	0.23275	0.005;0.028;0.045;0.028;0.013	T	0.57619	-0.7780	10	0.33940	T	0.23	.	12.8733	0.57977	0.8643:0.1357:0.0:0.0	.	393;400;400;378;378	Q5QPB7;P41235;F1D8S2;F1D8T0;P41235-6	.;HNF4A_HUMAN;.;.;.	A	378;378;400;430;400	ENSP00000315180:T378A;ENSP00000396216:T378A;ENSP00000312987:T400A;ENSP00000412111:T400A	ENSP00000312987:T400A	T	+	1	0	HNF4A	42490457	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	5.027000	0.64109	2.270000	0.75569	0.460000	0.39030	ACC	HNF4A	-	NULL		0.607	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	A			43057043	+1	no_errors	ENST00000316099	ensembl	human	known	70_37	missense	SNP	1.000	G
HNRNPH3	3189	genome.wustl.edu	37	10	70101490	70101491	+	Intron	INS	-	-	T	rs200462607	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:70101490_70101491insT	ENST00000265866.7	+	9	1036				HNRNPH3_ENST00000354695.5_Intron|HNRNPH3_ENST00000441000.2_Intron|HNRNPH3_ENST00000469172.1_Intron	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)						epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						ATGAGTCTCAATTTTTTTTCTT	0.406																																																	0																																										SO:0001627	intron_variant	3189				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.872-25->T	10.37:g.70101498_70101498dupT			A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	RNA	INS	-	NULL	ENST00000265866.7	37	NULL	CCDS7278.1	10																																																																																			HNRNPH3	-	-		0.406	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH3	HGNC	protein_coding	OTTHUMT00000090165.1	-			70101491	+1	no_errors	ENST00000478698	ensembl	human	known	70_37	rna	INS	0.000:0.000	T
HNRNPU	3192	genome.wustl.edu	37	1	245022598	245022598	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:245022598T>G	ENST00000283179.9	-	5	1259	c.1096A>C	c.(1096-1098)Act>Cct	p.T366P	HNRNPU_ENST00000444376.2_Missense_Mutation_p.T347P			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	366	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CCACTTGTAGTTAGTGACCAG	0.363																																					NSCLC(33;911 1010 3329 23631 49995)												0													117.0	119.0	118.0					1																	245022598		2203	4300	6503	SO:0001583	missense	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1096A>C	1.37:g.245022598T>G	ENSP00000283179:p.Thr366Pro		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.T366P	ENST00000283179.9	37	c.1096	CCDS41479.1	1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159970	0.38119	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T;T	0.69040	-0.37;-0.37;-0.37	5.53	4.41	0.53225	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.261566	0.44483	D	0.000449	T	0.33206	0.0855	N	0.01257	-0.925	0.32922	D	0.515938	B;B;B;P	0.39601	0.347;0.019;0.024;0.68	B;B;B;B	0.35607	0.022;0.002;0.004;0.206	T	0.45963	-0.9225	10	0.23891	T	0.37	-8.5483	9.4459	0.38697	0.0:0.1433:0.0:0.8567	.	291;347;366;90	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	P	347;366;291;143	ENSP00000393151:T347P;ENSP00000283179:T366P;ENSP00000410728:T143P	ENSP00000283179:T366P	T	-	1	0	HNRNPU	243089221	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.032000	0.49736	1.040000	0.40099	0.482000	0.46254	ACT	HNRNPU	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.363	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	T	NM_031844		245022598	-1	no_errors	ENST00000283179	ensembl	human	known	70_37	missense	SNP	0.995	G
HNRNPLL	92906	genome.wustl.edu	37	2	38800559	38800559	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:38800559A>G	ENST00000449105.3	-	8	1224	c.885T>C	c.(883-885)ggT>ggC	p.G295G	HNRNPLL_ENST00000409328.1_Silent_p.G261G|HNRNPLL_ENST00000409636.1_Silent_p.G290G|HNRNPLL_ENST00000608859.1_Silent_p.G295G|HNRNPLL_ENST00000378915.3_Silent_p.G261G			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	295					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										GCAATAATGGACCATGGGATC	0.353																																																	0													84.0	82.0	83.0					2																	38800559		2203	4300	6503	SO:0001819	synonymous_variant	92906			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.885T>C	2.37:g.38800559A>G			Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.G295	ENST00000449105.3	37	c.885		2																																																																																			HNRPLL	-	tigrfam_HnRNP-L_PTB		0.353	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	HNRPLL	HGNC	protein_coding	OTTHUMT00000219887.2	A	NM_138394		38800559	-1	no_errors	ENST00000449105	ensembl	human	known	70_37	silent	SNP	1.000	G
HOXA11	3207	genome.wustl.edu	37	7	27224337	27224337	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:27224337A>T	ENST00000006015.3	-	1	498	c.427T>A	c.(427-429)Ttt>Att	p.F143I	RP1-170O19.14_ENST00000523331.1_lincRNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	143					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCTCGAAAAACTGGTCGAAA	0.662			T	NUP98	CML																																			Dom	yes		7	7p15-p14.2	3207	homeo box A11		L	0													32.0	37.0	35.0					7																	27224337		2202	4299	6501	SO:0001583	missense	3207				CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.427T>A	7.37:g.27224337A>T	ENSP00000006015:p.Phe143Ile		A4D190	Missense_Mutation	SNP	pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.F143I	ENST00000006015.3	37	c.427	CCDS5411.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.0|23.0	4.363481|4.363481	0.82353|0.82353	.|.	.|.	ENSG00000005073|ENSG00000005073	ENST00000006015|ENST00000517402	T|.	0.63096|.	-0.02|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);|.	0.109147|.	0.64402|.	D|.	0.000005|.	D|D	0.84424|0.84424	0.5469|0.5469	M|M	0.91872|0.91872	3.25|3.25	0.80722|0.80722	D|D	1|1	P|.	0.38300|.	0.626|.	B|.	0.34489|.	0.184|.	D|D	0.88214|0.88214	0.2892|0.2892	10|5	0.87932|.	D|.	0|.	.|.	15.35|15.35	0.74376|0.74376	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	143|.	P31270|.	HXA11_HUMAN|.	I|R	143|112	ENSP00000006015:F143I|.	ENSP00000006015:F143I|.	F|S	-|-	1|3	0|2	HOXA11|HOXA11	27190862|27190862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.779000|8.779000	0.91792|0.91792	2.018000|2.018000	0.59344|0.59344	0.533000|0.533000	0.62120|0.62120	TTT|AGT	HOXA11	-	pfam_DUF3528		0.662	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA11	HGNC	protein_coding	OTTHUMT00000358754.1	A			27224337	-1	no_errors	ENST00000006015	ensembl	human	known	70_37	missense	SNP	1.000	T
HPGD	3248	genome.wustl.edu	37	4	175439155	175439155	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:175439155C>A	ENST00000296522.6	-	3	737	c.291G>T	c.(289-291)gaG>gaT	p.E97D	HPGD_ENST00000541923.1_Intron|HPGD_ENST00000422112.2_Intron|HPGD_ENST00000504433.1_Missense_Mutation_p.E97D|HPGD_ENST00000542498.1_Missense_Mutation_p.E97D|HPGD_ENST00000296521.7_Missense_Mutation_p.E97D|HPGD_ENST00000510901.1_5'UTR	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	97				E -> K (in Ref. 3; CAA57843). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		CCCAGTTTTTCTCATTATTCA	0.274																																																	0													66.0	64.0	65.0					4																	175439155		2201	4292	6493	SO:0001583	missense	3248				CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.291G>T	4.37:g.175439155C>A	ENSP00000296522:p.Glu97Asp		B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.E97D	ENST00000296522.6	37	c.291	CCDS3821.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054929	0.75960	.	.	ENSG00000164120	ENST00000296522;ENST00000296521;ENST00000542498;ENST00000504433	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	6.08	4.14	0.48551	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	N	0.12443	0.215	0.50813	D	0.999897	D;P;D;D	0.76494	0.998;0.594;0.999;0.983	D;B;D;D	0.77004	0.989;0.252;0.971;0.934	T	0.76825	-0.2816	10	0.02654	T	1	.	4.929	0.13907	0.0:0.6278:0.0:0.3722	.	97;97;97;97	O00749;E9PBZ2;B4DV57;P15428	.;.;.;PGDH_HUMAN	D	97	ENSP00000296522:E97D;ENSP00000296521:E97D;ENSP00000443644:E97D;ENSP00000420892:E97D	ENSP00000296521:E97D	E	-	3	2	HPGD	175675730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.513000	0.35823	1.591000	0.50007	0.591000	0.81541	GAG	HPGD	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_ADH_insect,prints_DHB_DH		0.274	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGD	HGNC	protein_coding	OTTHUMT00000362228.3	C			175439155	-1	no_errors	ENST00000296522	ensembl	human	known	70_37	missense	SNP	1.000	A
HPS5	11234	genome.wustl.edu	37	11	18303547	18303547	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18303547C>A	ENST00000349215.3	-	22	3556	c.3279G>T	c.(3277-3279)gaG>gaT	p.E1093D	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.E979D|HPS5_ENST00000537258.1_Missense_Mutation_p.E200D|HPS5_ENST00000396253.3_Missense_Mutation_p.E979D	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1093					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGGTAAACTTCTCTGACAACT	0.493									Hermansky-Pudlak syndrome																																								0													131.0	124.0	127.0					11																	18303547		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3279G>T	11.37:g.18303547C>A	ENSP00000265967:p.Glu1093Asp		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.E1093D	ENST00000349215.3	37	c.3279	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428830	0.62844	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258	T;T;T	0.58358	0.37;0.37;0.34	4.82	2.93	0.34026	.	0.239754	0.42294	D	0.000727	T	0.41236	0.1150	L	0.44542	1.39	0.80722	D	1	P	0.43788	0.817	B	0.39258	0.295	T	0.22800	-1.0206	10	0.48119	T	0.1	.	8.9628	0.35858	0.0:0.6893:0.0:0.3107	.	1093	Q9UPZ3	HPS5_HUMAN	D	979;979;1093;200	ENSP00000379552:E979D;ENSP00000399590:E979D;ENSP00000265967:E1093D	ENSP00000265967:E1093D	E	-	3	2	HPS5	18260123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.721000	0.25911	0.607000	0.29982	0.650000	0.86243	GAG	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.493	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	C	NM_181507		18303547	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	missense	SNP	1.000	A
HPS5	11234	genome.wustl.edu	37	11	18306950	18306950	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18306950T>G	ENST00000349215.3	-	20	3171	c.2894A>C	c.(2893-2895)aAa>aCa	p.K965T	HPS5_ENST00000352460.3_Intron|HPS5_ENST00000438420.2_Missense_Mutation_p.K851T|HPS5_ENST00000537258.1_Missense_Mutation_p.K72T|HPS5_ENST00000396253.3_Missense_Mutation_p.K851T	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	965					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCAGGAAGTTTAATTAGATG	0.353									Hermansky-Pudlak syndrome																																								0													66.0	70.0	69.0					11																	18306950		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2894A>C	11.37:g.18306950T>G	ENSP00000265967:p.Lys965Thr		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.K965T	ENST00000349215.3	37	c.2894	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335906	0.81801	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258;ENST00000544218	T;T;T	0.56776	0.44;0.44;0.44	5.93	5.93	0.95920	.	0.051781	0.85682	D	0.000000	T	0.68247	0.2980	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.70506	-0.4853	10	0.72032	D	0.01	.	16.3783	0.83418	0.0:0.0:0.0:1.0	.	965	Q9UPZ3	HPS5_HUMAN	T	851;851;965;72;151	ENSP00000379552:K851T;ENSP00000399590:K851T;ENSP00000265967:K965T	ENSP00000265967:K965T	K	-	2	0	HPS5	18263526	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.281000	0.58965	2.261000	0.74972	0.477000	0.44152	AAA	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.353	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	T	NM_181507		18306950	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	missense	SNP	1.000	G
HPS5	11234	genome.wustl.edu	37	11	18317559	18317559	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18317559C>A	ENST00000349215.3	-	13	1898	c.1621G>T	c.(1621-1623)Gct>Tct	p.A541S	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.A427S|HPS5_ENST00000396253.3_Missense_Mutation_p.A427S	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	541					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTTTGACAGCCTGAAGAGAC	0.378									Hermansky-Pudlak syndrome																																								0													134.0	132.0	133.0					11																	18317559		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1621G>T	11.37:g.18317559C>A	ENSP00000265967:p.Ala541Ser		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.A541S	ENST00000349215.3	37	c.1621	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600174	0.87055	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.67698	-0.28;-0.28;-0.24	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82892	-0.0232	10	0.87932	D	0	.	19.6008	0.95560	0.0:1.0:0.0:0.0	.	541	Q9UPZ3	HPS5_HUMAN	S	427;427;541	ENSP00000379552:A427S;ENSP00000399590:A427S;ENSP00000265967:A541S	ENSP00000265967:A541S	A	-	1	0	HPS5	18274135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.568000	0.73987	2.631000	0.89168	0.650000	0.86243	GCT	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.378	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	C	NM_181507		18317559	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	missense	SNP	1.000	A
HPS5	11234	genome.wustl.edu	37	11	18327893	18327893	+	Splice_Site	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18327893C>A	ENST00000349215.3	-	7	890	c.613G>T	c.(613-615)Gaa>Taa	p.E205*	HPS5_ENST00000438420.2_Splice_Site_p.E91*|HPS5_ENST00000531848.1_Splice_Site_p.E91*|HPS5_ENST00000396253.3_Splice_Site_p.E91*	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	205					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAAAACTTTTCTCTAACATCC	0.383									Hermansky-Pudlak syndrome																																								0													54.0	54.0	54.0					11																	18327893		2199	4293	6492	SO:0001630	splice_region_variant	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.612-1G>T	11.37:g.18327893C>A			A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.E205*	ENST00000349215.3	37	c.613	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.534140	0.98342	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.8496	0.92222	0.0:1.0:0.0:0.0	.	.	.	.	X	91;91;205;91	.	ENSP00000265967:E205X	E	-	1	0	HPS5	18284469	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.320000	0.79064	2.685000	0.91497	0.585000	0.79938	GAA	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.383	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	C	NM_181507	Nonsense_Mutation	18327893	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HPSE2	60495	genome.wustl.edu	37	10	100995386	100995386	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:100995386C>A	ENST00000370552.3	-	1	233	c.174G>T	c.(172-174)aaG>aaT	p.K58N	HPSE2_ENST00000404542.1_Missense_Mutation_p.K58N|HPSE2_ENST00000370549.1_Missense_Mutation_p.K58N|HPSE2_ENST00000370546.1_Missense_Mutation_p.K58N	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	58					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.K58N(6)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GAATCAGGGTCTTTTCCTTCA	0.522																																																	6	Substitution - Missense(6)	large_intestine(6)											180.0	178.0	179.0					10																	100995386		2203	4300	6503	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.174G>T	10.37:g.100995386C>A	ENSP00000359583:p.Lys58Asn		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.K58N	ENST00000370552.3	37	c.174	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869121	0.32977	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.00477	7.14;7.14;7.14;7.14	5.8	5.8	0.92144	.	0.052749	0.64402	D	0.000001	T	0.00328	0.0010	N	0.14661	0.345	0.30882	N	0.731298	P;P;P;P	0.40731	0.557;0.728;0.59;0.455	B;B;B;B	0.38803	0.221;0.282;0.282;0.146	T	0.70619	-0.4822	10	0.35671	T	0.21	-12.1322	15.1633	0.72801	0.0:0.9311:0.0:0.0689	.	58;58;58;58	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	N	58	ENSP00000359583:K58N;ENSP00000359580:K58N;ENSP00000359577:K58N;ENSP00000384384:K58N	ENSP00000359577:K58N	K	-	3	2	HPSE2	100985376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.374000	0.44274	2.758000	0.94735	0.561000	0.74099	AAG	HPSE2	-	NULL		0.522	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	C	NM_021828		100995386	-1	no_errors	ENST00000370552	ensembl	human	known	70_37	missense	SNP	1.000	A
HRH4	59340	genome.wustl.edu	37	18	22056721	22056721	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:22056721G>T	ENST00000256906.4	+	3	468	c.368G>T	c.(367-369)aGa>aTa	p.R123I	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	123					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	GTGTCTTATAGAACTCAACAT	0.378																																																	0													135.0	131.0	132.0					18																	22056721		2203	4300	6503	SO:0001583	missense	59340			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.368G>T	18.37:g.22056721G>T	ENSP00000256906:p.Arg123Ile		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H4_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R123I	ENST00000256906.4	37	c.368	CCDS11887.1	18	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647632	0.87958	.	.	ENSG00000134489	ENST00000256906	T	0.73258	-0.73	5.79	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.82102	-0.0623	9	0.33141	T	0.24	-18.6938	15.3693	0.74551	0.0:0.0:0.8596:0.1404	.	123	Q9H3N8	HRH4_HUMAN	I	123	ENSP00000256906:R123I	ENSP00000256906:R123I	R	+	2	0	HRH4	20310719	1.000000	0.71417	0.939000	0.37840	0.992000	0.81027	8.637000	0.91014	1.440000	0.47531	0.655000	0.94253	AGA	HRH4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.378	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH4	HGNC	protein_coding	OTTHUMT00000254904.1	G			22056721	+1	no_errors	ENST00000256906	ensembl	human	known	70_37	missense	SNP	0.996	T
HS1BP3	64342	genome.wustl.edu	37	2	20838179	20838179	+	Intron	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:20838179A>G	ENST00000304031.3	-	4	649				HS1BP3_ENST00000402541.1_Nonstop_Mutation_p.*214R	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3								phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCCTCTCAACAACAGGAG	0.607																																																	0													65.0	60.0	62.0					2																	20838179		2203	4300	6503	SO:0001627	intron_variant	64342				CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.623+16T>C	2.37:g.20838179A>G			B2RAW2|D6W529|Q86VC2|Q8N367	Nonstop_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.*214R	ENST00000304031.3	37	c.640	CCDS1700.1	2	.	.	.	.	.	.	.	.	.	.	A	0	-2.706366	0.00096	.	.	ENSG00000118960	ENST00000402541	.	.	.	2.98	-5.97	0.02227	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4427	0.16517	0.6224:0.0:0.2212:0.1564	.	.	.	.	R	214	.	.	X	-	1	0	HS1BP3	20701660	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.538000	0.00938	-1.649000	0.01508	-1.033000	0.02402	TGA	HS1BP3	-	NULL		0.607	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS1BP3	HGNC	protein_coding	OTTHUMT00000242863.1	A	NM_022460		20838179	-1	no_errors	ENST00000402541	ensembl	human	putative	70_37	nonstop	SNP	0.000	G
HS6ST2	90161	genome.wustl.edu	37	X	131842589	131842589	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:131842589A>C	ENST00000370836.2	-	4	1363				HS6ST2_ENST00000370833.2_Intron|HS6ST2_ENST00000406696.3_Missense_Mutation_p.L9R|HS6ST2_ENST00000521489.1_Intron	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AAATAATAAAAGTTTTCCATT	0.428																																																	0													50.0	35.0	40.0					X																	131842589		692	1591	2283	SO:0001627	intron_variant	90161			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.948-79468T>G	X.37:g.131842589A>C			B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	pfam_Sulfotransferase	p.L9R	ENST00000370836.2	37	c.26	CCDS48169.1	X	.	.	.	.	.	.	.	.	.	.	A	17.11	3.306063	0.60305	.	.	ENSG00000171004	ENST00000406696	T	0.80304	-1.36	4.24	4.24	0.50183	.	.	.	.	.	T	0.70859	0.3272	.	.	.	0.09310	N	1	B	0.32693	0.38	B	0.34991	0.193	T	0.59500	-0.7443	7	.	.	.	.	9.3512	0.38140	1.0:0.0:0.0:0.0	.	9	B7Z5H6	.	R	9	ENSP00000384013:L9R	.	L	-	2	0	HS6ST2	131670270	0.001000	0.12720	0.006000	0.13384	0.465000	0.32709	0.295000	0.19065	1.664000	0.50801	0.486000	0.48141	CTT	HS6ST2	-	NULL		0.428	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	A	NM_147174		131842589	-1	no_errors	ENST00000406696	ensembl	human	known	70_37	missense	SNP	0.005	C
HSD17B4	3295	genome.wustl.edu	37	5	118814621	118814621	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:118814621A>C	ENST00000256216.6	+	8	660	c.527A>C	c.(526-528)aAt>aCt	p.N176T	HSD17B4_ENST00000510025.1_Missense_Mutation_p.N152T|HSD17B4_ENST00000414835.2_Missense_Mutation_p.N36T|HSD17B4_ENST00000504811.1_Missense_Mutation_p.N201T|HSD17B4_ENST00000515320.1_Missense_Mutation_p.N158T|HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000513628.1_Missense_Mutation_p.N39T	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	176	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGCCTTGCAAATTCTCTTGCA	0.428																																					Colon(35;490 801 34689 41394 43344)												0													146.0	141.0	143.0					5																	118814621		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.527A>C	5.37:g.118814621A>C	ENSP00000256216:p.Asn176Thr		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.N176T	ENST00000256216.6	37	c.527	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493877	0.84962	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.22	5.22	0.72569	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89770	0.6811	L	0.38175	1.15	0.80722	D	1	B;P;P;P	0.41624	0.159;0.757;0.528;0.757	P;P;P;P	0.59948	0.546;0.549;0.549;0.866	D	0.90682	0.4606	10	0.66056	D	0.02	-20.1501	15.0655	0.71992	1.0:0.0:0.0:0.0	.	201;158;152;176	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	T	176;158;152;201;36;39	ENSP00000256216:N176T;ENSP00000424613:N158T;ENSP00000424940:N152T;ENSP00000420914:N201T;ENSP00000411960:N36T;ENSP00000425993:N39T	ENSP00000256216:N176T	N	+	2	0	HSD17B4	118842520	1.000000	0.71417	0.754000	0.31244	0.735000	0.41995	9.157000	0.94714	2.091000	0.63221	0.533000	0.62120	AAT	HSD17B4	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR		0.428	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	A	NM_000414		118814621	+1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	1.000	C
HSF4	3299	genome.wustl.edu	37	16	67201667	67201667	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67201667G>A	ENST00000521374.1	+	9	899	c.899G>A	c.(898-900)gGg>gAg	p.G300E	HSF4_ENST00000584272.1_Intron|HSF4_ENST00000264009.8_Missense_Mutation_p.G300E|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000421453.1_Intron|NOL3_ENST00000432069.2_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	300	Interactions with DUSP26, MAPK1 and MAPK2.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCCAGTCCAGGGGGGGATGGC	0.652																																																	0													12.0	18.0	16.0					16																	67201667		1887	4093	5980	SO:0001583	missense	3299			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.899G>A	16.37:g.67201667G>A	ENSP00000430947:p.Gly300Glu		Q99472|Q9ULV6	Missense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.G300E	ENST00000521374.1	37	c.899	CCDS42175.1	16	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428719	0.83667	.	.	ENSG00000102878	ENST00000264009;ENST00000521374	.	.	.	4.98	4.98	0.66077	.	0.118040	0.56097	D	0.000023	T	0.42832	0.1220	L	0.27053	0.805	0.80722	D	1	B	0.33528	0.416	B	0.32533	0.147	T	0.30090	-0.9990	9	0.11485	T	0.65	-4.8945	15.7867	0.78310	0.0:0.0:1.0:0.0	.	300	Q9ULV5	HSF4_HUMAN	E	300	.	ENSP00000264009:G300E	G	+	2	0	HSF4	65759168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.115000	0.71566	2.586000	0.87340	0.561000	0.74099	GGG	HSF4	-	NULL		0.652	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF4	HGNC	protein_coding	OTTHUMT00000375080.1	G	NM_001538		67201667	+1	no_errors	ENST00000264009	ensembl	human	known	70_37	missense	SNP	1.000	A
HSP90AA6P	441051	genome.wustl.edu	37	4	171526097	171526097	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:171526097C>A	ENST00000325407.4	-	0	38									heat shock protein 90kDa alpha (cytosolic), class A member 6, pseudogene																		TGACCAAATTCTTCCTGATAA	0.358																																																	0																																												441051			AY956762		4q33	2014-02-12	2011-04-15			ENSG00000181359			32536	pseudogene	pseudogene						16269234	Standard	NG_025183		Approved						4.37:g.171526097C>A				RNA	SNP	-	NULL	ENST00000325407.4	37	NULL		4																																																																																			HSP90AA6P	-	-		0.358	HSP90AA6P-002	KNOWN	basic	processed_transcript	HSP90AA6P	HGNC	pseudogene	OTTHUMT00000366140.1	C			171526097	-1	no_errors	ENST00000325407	ensembl	human	known	70_37	rna	SNP	1.000	A
HSPA13	6782	genome.wustl.edu	37	21	15755429	15755429	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:15755429C>A	ENST00000285667.3	-	1	79	c.12G>T	c.(10-12)gaG>gaT	p.E4D	HSPA13_ENST00000544452.1_5'UTR|HSPA13_ENST00000478035.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	4						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGATCGTCATCTCTCTGGCCA	0.637																																																	0													130.0	117.0	122.0					21																	15755429		2203	4300	6503	SO:0001583	missense	6782				CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.12G>T	21.37:g.15755429C>A	ENSP00000285667:p.Glu4Asp		B2R616|Q8NE40	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E4D	ENST00000285667.3	37	c.12	CCDS13567.1	21	.	.	.	.	.	.	.	.	.	.	C	15.92	2.973993	0.53720	.	.	ENSG00000155304	ENST00000285667	T	0.01599	4.74	4.26	1.43	0.22495	.	2.717330	0.00732	N	0.000945	T	0.05593	0.0147	L	0.36672	1.1	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.37244	-0.9714	10	0.72032	D	0.01	-18.728	5.8237	0.18542	0.0:0.6627:0.0:0.3373	.	4	P48723	HSP13_HUMAN	D	4	ENSP00000285667:E4D	ENSP00000285667:E4D	E	-	3	2	HSPA13	14677300	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.816000	0.27267	0.544000	0.28883	0.650000	0.86243	GAG	HSPA13	-	NULL		0.637	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA13	HGNC	protein_coding	OTTHUMT00000157815.1	C			15755429	-1	no_errors	ENST00000285667	ensembl	human	known	70_37	missense	SNP	1.000	A
HSPA8	3312	genome.wustl.edu	37	11	122929020	122929020	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:122929020C>A	ENST00000532636.1	-	8	1814	c.1695G>T	c.(1693-1695)gaG>gaT	p.E565D	HSPA8_ENST00000526110.1_Missense_Mutation_p.E546D|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000534319.1_Missense_Mutation_p.E329D|HSPA8_ENST00000227378.3_Missense_Mutation_p.E565D|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.E419D|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000534624.1_Missense_Mutation_p.E565D|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	565					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCTGTTTGTCCTCATCGTTAA	0.373																																					Colon(21;486 594 5900 6733 14272)												0													114.0	119.0	118.0					11																	122929020		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1695G>T	11.37:g.122929020C>A	ENSP00000437125:p.Glu565Asp		Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E565D	ENST00000532636.1	37	c.1695	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382305	0.24944	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	4.67	-3.9	0.04181	.	0.126306	0.50627	N	0.000112	T	0.05044	0.0135	N	0.05078	-0.115	0.37242	D	0.906146	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.30563	-0.9974	10	0.25106	T	0.35	-22.533	3.2052	0.06663	0.0918:0.2812:0.1813:0.4457	.	565;565	Q53GZ6;P11142	.;HSP7C_HUMAN	D	565;419;565;565;329;546;156;117	ENSP00000437125:E565D;ENSP00000437189:E419D;ENSP00000432083:E565D;ENSP00000227378:E565D;ENSP00000433316:E329D;ENSP00000433584:E546D;ENSP00000435908:E156D;ENSP00000435019:E117D	ENSP00000227378:E565D	E	-	3	2	HSPA8	122434230	0.000000	0.05858	0.785000	0.31869	0.956000	0.61745	-2.028000	0.01431	-0.745000	0.04772	0.561000	0.74099	GAG	HSPA8	-	pfam_Hsp_70_fam		0.373	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	C			122929020	-1	no_errors	ENST00000534624	ensembl	human	known	70_37	missense	SNP	0.190	A
HTR1A	3350	genome.wustl.edu	37	5	63256888	63256888	+	Missense_Mutation	SNP	C	C	T	rs1800044	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:63256888C>T	ENST00000323865.3	-	1	892	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	220			R -> L (in dbSNP:rs1800044).		adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCGCGCAGCTCGGAATATGCG	0.567																																																	0			GRCh37	CM960850	HTR1A	M	rs1800044						84.0	94.0	91.0					5																	63256888		2203	4300	6503	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.659G>A	5.37:g.63256888C>T	ENSP00000316244:p.Arg220Gln		Q6LAE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.R220Q	ENST00000323865.3	37	c.659	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	C	8.969	0.972496	0.18736	.	.	ENSG00000178394	ENST00000323865	T	0.39406	1.08	5.7	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.332618	0.28790	N	0.014134	T	0.24314	0.0589	L	0.38733	1.17	0.38729	D	0.953618	P	0.41546	0.754	B	0.31495	0.131	T	0.05582	-1.0876	10	0.21014	T	0.42	.	7.313	0.26485	0.0:0.782:0.0:0.218	.	220	P08908	5HT1A_HUMAN	Q	220	ENSP00000316244:R220Q	ENSP00000316244:R220Q	R	-	2	0	HTR1A	63292644	0.717000	0.27966	0.990000	0.47175	0.997000	0.91878	0.774000	0.26675	2.692000	0.91855	0.655000	0.94253	CGA	HTR1A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.567	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	C	NM_000524		63256888	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	missense	SNP	0.995	T
HTR1A	3350	genome.wustl.edu	37	5	63257163	63257163	+	Silent	SNP	G	G	A	rs199699351		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:63257163G>A	ENST00000323865.3	-	1	617	c.384C>T	c.(382-384)tgC>tgT	p.C128C	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	128					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.C128C(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCGCGATGGCGCACAGGTGCA	0.622																																																	1	Substitution - coding silent(1)	large_intestine(1)											69.0	64.0	66.0					5																	63257163		2203	4300	6503	SO:0001819	synonymous_variant	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.384C>T	5.37:g.63257163G>A			Q6LAE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.C128	ENST00000323865.3	37	c.384	CCDS34168.1	5																																																																																			HTR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.622	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	G	NM_000524		63257163	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	silent	SNP	1.000	A
HTR2A	3356	genome.wustl.edu	37	13	47466697	47466697	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:47466697A>G	ENST00000378688.4	-	2	572	c.441T>C	c.(439-441)ctT>ctC	p.L147L	HTR2A_ENST00000542664.1_Silent_p.L147L|HTR2A_ENST00000543956.1_Silent_p.L63L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	147					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGACTGCACAAAGCTTGCTCG	0.577																																																	0													122.0	117.0	119.0					13																	47466697		2203	4300	6503	SO:0001819	synonymous_variant	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.441T>C	13.37:g.47466697A>G			B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.L147	ENST00000378688.4	37	c.441	CCDS9405.1	13																																																																																			HTR2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.577	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2A	HGNC	protein_coding	OTTHUMT00000044835.3	A	NM_000621		47466697	-1	no_errors	ENST00000378688	ensembl	human	known	70_37	silent	SNP	0.985	G
HTR2B	3357	genome.wustl.edu	37	2	231973376	231973376	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:231973376C>T	ENST00000258400.3	-	4	1813	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	434					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	AATCCCATTTCGAATTCCATG	0.423																																					Ovarian(155;1331 1891 12853 14038 34991)												0													111.0	107.0	108.0					2																	231973376		2203	4300	6503	SO:0001583	missense	3357				CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1301G>A	2.37:g.231973376C>T	ENSP00000258400:p.Arg434Gln		B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.R434Q	ENST00000258400.3	37	c.1301	CCDS2483.1	2	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488421	0.64074	.	.	ENSG00000135914	ENST00000258400	T	0.60171	0.21	5.9	5.03	0.67393	.	0.205094	0.48286	D	0.000195	T	0.47820	0.1466	L	0.57536	1.79	0.39669	D	0.970733	P;P	0.45011	0.848;0.687	B;B	0.27262	0.078;0.078	T	0.56335	-0.7996	10	0.44086	T	0.13	.	15.0258	0.71669	0.0:0.9321:0.0:0.0679	.	249;434	B3VRC5;P41595	.;5HT2B_HUMAN	Q	434	ENSP00000258400:R434Q	ENSP00000258400:R434Q	R	-	2	0	HTR2B	231681620	0.999000	0.42202	0.951000	0.38953	0.995000	0.86356	2.961000	0.49168	1.511000	0.48818	0.650000	0.86243	CGA	HTR2B	-	prints_5HT2B_rcpt		0.423	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2B	HGNC	protein_coding	OTTHUMT00000256957.2	C	NM_000867		231973376	-1	no_errors	ENST00000258400	ensembl	human	known	70_37	missense	SNP	1.000	T
HTR3B	9177	genome.wustl.edu	37	11	113803663	113803663	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:113803663G>T	ENST00000260191.2	+	6	801	c.544G>T	c.(544-546)Gac>Tac	p.D182Y	HTR3B_ENST00000537778.1_Missense_Mutation_p.D171Y	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	182					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	TGCAGTGGAAGACGTAGACCT	0.468																																																	0													133.0	120.0	124.0					11																	113803663		2201	4296	6497	SO:0001583	missense	9177			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.544G>T	11.37:g.113803663G>T	ENSP00000260191:p.Asp182Tyr		B0YJ23|Q0VJC3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel	p.D182Y	ENST00000260191.2	37	c.544	CCDS8364.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.775402|4.775402	0.90108|0.90108	.|.	.|.	ENSG00000149305|ENSG00000149305	ENST00000260191;ENST00000537778|ENST00000543092	T;T|.	0.80393|.	-1.37;-1.37|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.051673|.	0.85682|.	D|.	0.000000|.	T|T	0.77018|0.77018	0.4069|0.4069	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.72625|.	0.978;0.964|.	T|T	0.73711|0.73711	-0.3897|-0.3897	10|5	0.72032|.	D|.	0.01|.	-19.6554|-19.6554	19.6509|19.6509	0.95805|0.95805	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	171;182|.	O95264-2;O95264|.	.;5HT3B_HUMAN|.	Y|N	182;171|110	ENSP00000260191:D182Y;ENSP00000443118:D171Y|.	ENSP00000260191:D182Y|.	D|K	+|+	1|3	0|2	HTR3B|HTR3B	113308873|113308873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	6.920000|6.920000	0.75799|0.75799	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|AAG	HTR3B	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_5HT3_rcpt_A,tigrfam_Neur_channel		0.468	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3B	HGNC	protein_coding	OTTHUMT00000398842.1	G	NM_006028		113803663	+1	no_errors	ENST00000260191	ensembl	human	known	70_37	missense	SNP	1.000	T
HTR3C	170572	genome.wustl.edu	37	3	183772526	183772526	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:183772526A>C	ENST00000318351.1	+	2	119	c.85A>C	c.(85-87)Acc>Ccc	p.T29P		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	29					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CGACGCTTTTACCATCAATTG	0.507																																																	0													122.0	116.0	118.0					3																	183772526		2203	4300	6503	SO:0001583	missense	170572			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.85A>C	3.37:g.183772526A>C	ENSP00000322617:p.Thr29Pro		A2RRR5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.T29P	ENST00000318351.1	37	c.85	CCDS3250.1	3	.	.	.	.	.	.	.	.	.	.	.	14.86	2.662029	0.47572	.	.	ENSG00000178084	ENST00000318351	T	0.80393	-1.37	4.43	4.43	0.53597	.	0.169485	0.38778	N	0.001575	D	0.86070	0.5845	M	0.69823	2.125	0.09310	N	0.999995	D	0.65815	0.995	D	0.64042	0.921	T	0.77606	-0.2525	10	0.45353	T	0.12	-15.0592	10.0042	0.41946	1.0:0.0:0.0:0.0	.	29	Q8WXA8	5HT3C_HUMAN	P	29	ENSP00000322617:T29P	ENSP00000322617:T29P	T	+	1	0	HTR3C	185255220	1.000000	0.71417	0.685000	0.30070	0.719000	0.41307	1.887000	0.39698	1.861000	0.53984	0.459000	0.35465	ACC	HTR3C	-	NULL		0.507	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3C	HGNC	protein_coding	OTTHUMT00000346296.1	A	NM_130770		183772526	+1	no_errors	ENST00000318351	ensembl	human	known	70_37	missense	SNP	0.588	C
RP11-377D9.3	0	genome.wustl.edu	37	12	13157406	13157406	+	lincRNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:13157406G>T	ENST00000543321.1	+	0	31																											AACTGAAAGAGAATATTATTT	0.368																																																	0																																												93164																															12.37:g.13157406G>T				RNA	SNP	-	NULL	ENST00000543321.1	37	NULL		12																																																																																			HTR7P1	-	-		0.368	RP11-377D9.3-001	KNOWN	basic	lincRNA	HTR7P1	HGNC	lincRNA	OTTHUMT00000401005.1	G			13157406	+1	no_errors	ENST00000535469	ensembl	human	known	70_37	rna	SNP	0.256	T
HUWE1	10075	genome.wustl.edu	37	X	53675225	53675225	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:53675225T>G	ENST00000342160.3	-	4	531	c.74A>C	c.(73-75)aAa>aCa	p.K25T	HUWE1_ENST00000262854.6_Missense_Mutation_p.K25T|HUWE1_ENST00000218328.8_Missense_Mutation_p.K25T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	25					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AACTTTGAGTTTGTCTATTAA	0.398																																																	0													117.0	92.0	101.0					X																	53675225		2202	4300	6502	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.74A>C	X.37:g.53675225T>G	ENSP00000340648:p.Lys25Thr		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.K25T	ENST00000342160.3	37	c.74	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113370	0.56398	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528;ENST00000446750	T;T;T	0.49139	1.09;1.09;0.79	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.36672	1.1	0.58432	D	0.999995	B	0.30193	0.272	B	0.30855	0.121	T	0.21827	-1.0234	10	0.33141	T	0.24	.	13.6877	0.62526	0.0:0.0:0.0:1.0	.	25	Q7Z6Z7	HUWE1_HUMAN	T	25	ENSP00000340648:K25T;ENSP00000262854:K25T;ENSP00000218328:K25T	ENSP00000218328:K25T	K	-	2	0	HUWE1	53691950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.787000	0.69013	1.876000	0.54355	0.486000	0.48141	AAA	HUWE1	-	NULL		0.398	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	T	XM_497119		53675225	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	G
HYAL4	23553	genome.wustl.edu	37	7	123508682	123508682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:123508682C>T	ENST00000223026.4	+	3	993	c.355C>T	c.(355-357)Caa>Taa	p.Q119*	HYAL4_ENST00000476325.1_Nonsense_Mutation_p.Q119*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	119					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CATAAGTTTACAAGTACATCT	0.388																																																	0													72.0	79.0	77.0					7																	123508682		2203	4300	6503	SO:0001587	stop_gained	23553			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.355C>T	7.37:g.123508682C>T	ENSP00000223026:p.Gln119*		D0VXG1|Q9UL99|Q9Y6T9	Nonsense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase,prints_Glyco_hydro_56_PH20	p.Q119*	ENST00000223026.4	37	c.355	CCDS5789.1	7	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430176	0.43122	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	.	.	.	5.59	3.76	0.43208	.	0.184813	0.48286	D	0.000199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.4337	10.5637	0.45161	0.2702:0.5997:0.1301:0.0	.	.	.	.	X	119	.	.	Q	+	1	0	HYAL4	123295918	0.873000	0.30073	0.715000	0.30552	0.444000	0.32077	0.563000	0.23547	0.701000	0.31803	-0.219000	0.12488	CAA	HYAL4	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase		0.388	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL4	HGNC	protein_coding	OTTHUMT00000348545.1	C	NM_012269		123508682	+1	no_errors	ENST00000223026	ensembl	human	known	70_37	nonsense	SNP	0.975	T
HYDIN	54768	genome.wustl.edu	37	16	70866947	70866947	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:70866947A>C	ENST00000393567.2	-	80	13853	c.13703T>G	c.(13702-13704)tTt>tGt	p.F4568C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4568					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGAGGCTCAAATTTTTTGAT	0.413																																																	0													14.0	14.0	14.0					16																	70866947		1810	4060	5870	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13703T>G	16.37:g.70866947A>C	ENSP00000377197:p.Phe4568Cys		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.F4567C	ENST00000393567.2	37	c.13700	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	A	10.13	1.265563	0.23136	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01043	5.41	4.62	0.654	0.17833	.	0.917403	0.08718	N	0.903854	T	0.01421	0.0046	L	0.32530	0.975	0.09310	N	0.999999	B	0.27498	0.18	B	0.29267	0.1	T	0.48758	-0.9007	10	0.34782	T	0.22	.	11.6001	0.50997	0.5645:0.4355:0.0:0.0	.	4567	F8WD23	.	C	4568;4567	ENSP00000377197:F4568C	ENSP00000313052:F4567C	F	-	2	0	HYDIN	69424448	0.913000	0.31002	0.034000	0.17996	0.934000	0.57294	3.881000	0.56152	0.131000	0.18576	0.418000	0.28097	TTT	HYDIN	-	NULL		0.413	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	A			70866947	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	0.003	C
HYDIN	54768	genome.wustl.edu	37	16	71127751	71127751	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:71127751T>G	ENST00000393567.2	-	11	1565	c.1415A>C	c.(1414-1416)aAa>aCa	p.K472T	HYDIN_ENST00000393550.2_Missense_Mutation_p.K472T|HYDIN_ENST00000541601.1_Missense_Mutation_p.K489T|HYDIN_ENST00000448691.1_Missense_Mutation_p.K472T|HYDIN_ENST00000288168.10_Missense_Mutation_p.K489T|RP11-23E19.1_ENST00000563968.1_RNA|HYDIN_ENST00000321489.5_Missense_Mutation_p.K472T|HYDIN_ENST00000448089.2_Missense_Mutation_p.K472T|HYDIN_ENST00000538248.1_Missense_Mutation_p.K499T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	472					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGAAAACTTTCCCAATATC	0.408																																																	0													46.0	45.0	45.0					16																	71127751		2198	4297	6495	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1415A>C	16.37:g.71127751T>G	ENSP00000377197:p.Lys472Thr		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.K472T	ENST00000393567.2	37	c.1415	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	15.42	2.829614	0.50845	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.14766	5.57;3.7;3.72;3.72;3.69;3.69;3.38;2.48	5.11	5.11	0.69529	.	0.000000	0.34411	U	0.003993	T	0.34106	0.0886	M	0.74881	2.28	0.44469	D	0.9974	P;P;B;P;D	0.71674	0.869;0.869;0.135;0.869;0.998	P;P;B;P;D	0.91635	0.77;0.77;0.421;0.77;0.999	T	0.19943	-1.0290	10	0.11485	T	0.65	.	14.622	0.68594	0.0:0.0:0.0:1.0	.	499;489;489;472;472	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	T	472;472;472;472;472;499;489;489;472	ENSP00000377197:K472T;ENSP00000398544:K472T;ENSP00000394826:K472T;ENSP00000314736:K472T;ENSP00000444970:K499T;ENSP00000437341:K489T;ENSP00000288168:K489T;ENSP00000377181:K472T	ENSP00000288168:K489T	K	-	2	0	HYDIN	69685252	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	3.920000	0.56446	1.962000	0.57031	0.352000	0.21897	AAA	HYDIN	-	NULL		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	T			71127751	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	G
HYPK	25764	genome.wustl.edu	37	15	44094050	44094050	+	3'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:44094050A>C	ENST00000406925.1	+	0	4547				SERINC4_ENST00000319327.6_5'Flank|SERF2_ENST00000600633.1_3'UTR|SERINC4_ENST00000299969.6_5'Flank|HYPK_ENST00000458412.1_3'UTR|SERINC4_ENST00000249714.3_5'Flank|RP11-296A16.1_ENST00000417761.2_5'Flank|HYPK_ENST00000442995.2_3'UTR			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K							cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		TATGGCAATAAAATTTTTTTT	0.363																																																	0													21.0	22.0	22.0					15																	44094050		2198	4297	6495	SO:0001624	3_prime_UTR_variant	25764			AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"""Huntingtin yeast partner K"""	612784	"""chromosome 15 open reading frame 63"""	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.*46A>C	15.37:g.44094050A>C			C9JKJ0|O75408|Q8WUW8|Q9P024	RNA	SNP	-	NULL	ENST00000406925.1	37	NULL	CCDS10104.1	15																																																																																			HYPK	-	-		0.363	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HYPK	HGNC	protein_coding	OTTHUMT00000133876.3	A	NM_016400		44094050	+1	no_errors	ENST00000497142	ensembl	human	known	70_37	rna	SNP	1.000	C
ICA1	3382	genome.wustl.edu	37	7	8268265	8268265	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:8268265C>T	ENST00000402384.3	-	4	488	c.222G>A	c.(220-222)tcG>tcA	p.S74S	ICA1_ENST00000396675.3_Silent_p.S74S|ICA1_ENST00000406470.2_Silent_p.S74S|ICA1_ENST00000401396.1_Silent_p.S62S|ICA1_ENST00000265577.7_Silent_p.S73S|ICA1_ENST00000407906.1_Silent_p.S74S|ICA1_ENST00000422063.2_Silent_p.S74S			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	74	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CAATTGCTTTCGATAAGTCCA	0.294																																																	0													102.0	94.0	97.0					7																	8268265		2201	4298	6499	SO:0001819	synonymous_variant	3382				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.222G>A	7.37:g.8268265C>T			A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom	p.S74	ENST00000402384.3	37	c.222	CCDS34602.1	7																																																																																			ICA1	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom		0.294	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	C	NM_004968		8268265	-1	no_errors	ENST00000422063	ensembl	human	known	70_37	silent	SNP	1.000	T
ICAM4	3386	genome.wustl.edu	37	19	10398021	10398021	+	Silent	SNP	G	G	A	rs375921978		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:10398021G>A	ENST00000380770.3	+	1	379	c.333G>A	c.(331-333)gcG>gcA	p.A111A	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_Silent_p.A111A|ICAM5_ENST00000221980.4_5'Flank|ICAM4_ENST00000340992.4_Silent_p.A111A|CTD-2369P2.5_ENST00000592893.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	111	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCTCCCTCGCGCACTGCCTCG	0.677																																																	0													19.0	20.0	20.0					19																	10398021		2203	4300	6503	SO:0001819	synonymous_variant	3386			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.333G>A	19.37:g.10398021G>A			A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Silent	SNP	pfam_ICAM_N	p.A111	ENST00000380770.3	37	c.333	CCDS12232.1	19																																																																																			ICAM4	-	pfam_ICAM_N		0.677	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICAM4	HGNC	protein_coding	OTTHUMT00000451214.1	G	NM_001544		10398021	+1	no_errors	ENST00000340992	ensembl	human	known	70_37	silent	SNP	0.001	A
ICAM3	3385	genome.wustl.edu	37	19	10445073	10445073	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:10445073T>G	ENST00000160262.5	-	6	1412	c.1204A>C	c.(1204-1206)Att>Ctt	p.I402L	ICAM3_ENST00000589261.1_Missense_Mutation_p.I325L|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	402					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GCTCGGTCAATTTTGGGACCA	0.577																																																	0													82.0	83.0	83.0					19																	10445073		2203	4300	6503	SO:0001583	missense	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1204A>C	19.37:g.10445073T>G	ENSP00000160262:p.Ile402Leu		Q6PD68	Missense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM	p.I402L	ENST00000160262.5	37	c.1204	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	T	5.713	0.316079	0.10789	.	.	ENSG00000076662	ENST00000160262	T	0.15256	2.44	4.47	3.37	0.38596	Immunoglobulin-like fold (1);	0.363273	0.24818	N	0.035347	T	0.07638	0.0192	N	0.16233	0.39	0.19775	N	0.999959	B	0.22146	0.065	B	0.20577	0.03	T	0.38243	-0.9670	10	0.02654	T	1	-12.8341	7.6083	0.28115	0.0:0.0:0.2171:0.7829	.	402	P32942	ICAM3_HUMAN	L	402	ENSP00000160262:I402L	ENSP00000160262:I402L	I	-	1	0	ICAM3	10306073	0.703000	0.27826	0.982000	0.44146	0.907000	0.53573	0.799000	0.27028	2.003000	0.58678	0.459000	0.35465	ATT	ICAM3	-	NULL		0.577	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	HGNC	protein_coding	OTTHUMT00000451234.1	T			10445073	-1	no_errors	ENST00000160262	ensembl	human	known	70_37	missense	SNP	0.784	G
IDE	3416	genome.wustl.edu	37	10	94234652	94234652	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:94234652A>C	ENST00000265986.6	-	17	2118	c.2062T>G	c.(2062-2064)Ttg>Gtg	p.L688V	IDE_ENST00000371581.5_Missense_Mutation_p.L133V|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	688					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	GTCATCAGCAAGCGGAGGTAG	0.403																																																	0													92.0	89.0	90.0					10																	94234652		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2062T>G	10.37:g.94234652A>C	ENSP00000265986:p.Leu688Val		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.L688V	ENST00000265986.6	37	c.2062	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946702	0.34377	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.30448	1.53;1.53	5.65	-2.63	0.06133	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.64402	D	0.000002	T	0.20577	0.0495	L	0.37507	1.11	0.58432	D	0.999997	B;B	0.22683	0.073;0.02	B;B	0.25506	0.044;0.061	T	0.08411	-1.0723	10	0.23302	T	0.38	-7.8667	12.3928	0.55368	0.3007:0.0:0.6993:0.0	.	688;133	P14735;B3KSB8	IDE_HUMAN;.	V	688;133	ENSP00000265986:L688V;ENSP00000360637:L133V	ENSP00000265986:L688V	L	-	1	2	IDE	94224632	1.000000	0.71417	0.987000	0.45799	0.963000	0.63663	1.527000	0.35975	-0.393000	0.07739	-0.361000	0.07541	TTG	IDE	-	superfamily_Metalloenz_metal-bd		0.403	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	A	NM_004969		94234652	-1	no_errors	ENST00000265986	ensembl	human	known	70_37	missense	SNP	0.996	C
IDE	3416	genome.wustl.edu	37	10	94264579	94264579	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:94264579G>T	ENST00000265986.6	-	11	1458	c.1402C>A	c.(1402-1404)Ctc>Atc	p.L468I		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	468					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	AGTTTATCGAGAACCATCTCT	0.308																																																	0													52.0	50.0	51.0					10																	94264579		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1402C>A	10.37:g.94264579G>T	ENSP00000265986:p.Leu468Ile		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.L468I	ENST00000265986.6	37	c.1402	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648440	0.67358	.	.	ENSG00000119912	ENST00000265986	T	0.44083	0.93	5.04	4.13	0.48395	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.64402	D	0.000002	T	0.51601	0.1684	M	0.67397	2.05	0.80722	D	1	B	0.34264	0.446	P	0.47603	0.551	T	0.54583	-0.8272	10	0.54805	T	0.06	-11.7582	10.3802	0.44108	0.1805:0.0:0.8195:0.0	.	468	P14735	IDE_HUMAN	I	468	ENSP00000265986:L468I	ENSP00000265986:L468I	L	-	1	0	IDE	94254559	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.135000	0.64777	2.510000	0.84645	0.467000	0.42956	CTC	IDE	-	superfamily_Metalloenz_metal-bd		0.308	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	G	NM_004969		94264579	-1	no_errors	ENST00000265986	ensembl	human	known	70_37	missense	SNP	1.000	T
IDS	3423	genome.wustl.edu	37	X	148577936	148577936	+	Missense_Mutation	SNP	C	C	T	rs193302907		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:148577936C>T	ENST00000340855.6	-	6	1029	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	IDS_ENST00000370441.4_Missense_Mutation_p.E274K|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000541269.1_Missense_Mutation_p.E63K|IDS_ENST00000370443.4_Missense_Mutation_p.E274K|IDS_ENST00000422081.2_Missense_Mutation_p.E63K	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	274					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGACGTCTTCCCGTTGCCTG	0.537																																																	0													194.0	149.0	164.0					X																	148577936		2203	4300	6503	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.820G>A	X.37:g.148577936C>T	ENSP00000339801:p.Glu274Lys		D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.E274K	ENST00000340855.6	37	c.820	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	c	26.5	4.743484	0.89663	.	.	ENSG00000010404	ENST00000340855;ENST00000541269;ENST00000370441;ENST00000370443	D;D;D;D	0.99418	-5.62;-5.87;-5.59;-5.54	5.37	5.37	0.77165	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.141660	0.64402	D	0.000006	D	0.98210	0.9408	L	0.51853	1.615	0.80722	D	1	B;P;P	0.42871	0.082;0.571;0.792	B;B;B	0.38921	0.086;0.285;0.285	D	0.99950	1.1537	10	0.18276	T	0.48	.	18.4251	0.90606	0.0:1.0:0.0:0.0	.	274;184;274	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	K	274;63;274;274	ENSP00000339801:E274K;ENSP00000441261:E63K;ENSP00000359470:E274K;ENSP00000359472:E274K	ENSP00000339801:E274K	E	-	1	0	IDS	148385841	1.000000	0.71417	0.998000	0.56505	0.775000	0.43874	7.412000	0.80091	2.379000	0.81126	0.540000	0.68198	GAA	IDS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.537	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	C			148577936	-1	no_errors	ENST00000340855	ensembl	human	known	70_37	missense	SNP	1.000	T
IFI16	3428	genome.wustl.edu	37	1	159021793	159021793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:159021793G>T	ENST00000295809.7	+	10	2245	c.1990G>T	c.(1990-1992)Gga>Tga	p.G664*	IFI16_ENST00000340979.6_Nonsense_Mutation_p.G552*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.G552*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.G612*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.G608*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.G608*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.G608*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	664	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|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)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GATCCCAAAAGGATTGATTAG	0.423																																																	0													82.0	84.0	83.0					1																	159021793		2203	4300	6503	SO:0001587	stop_gained	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1990G>T	1.37:g.159021793G>T	ENSP00000295809:p.Gly664*		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Nonsense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.G664*	ENST00000295809.7	37	c.1990		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.720954|5.720954	0.96839|0.96839	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894|ENST00000448393	.|T	.|0.21734	.|1.99	4.85|4.85	-4.51|-4.51	0.03483|0.03483	.|.	.|.	.|.	.|.	.|.	.|T	.|0.01730	.|0.0055	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.43589	.|-0.9382	.|5	0.24483|0.13108	T|T	0.36|0.6	.|.	1.3724|1.3724	0.02213|0.02213	0.2596:0.2797:0.3152:0.1455|0.2596:0.2797:0.3152:0.1455	.|.	.|.	.|.	.|.	X|N	293;664;552;608;608;612|372	.|ENSP00000404325:K372N	ENSP00000295809:G664X|ENSP00000404325:K372N	G|K	+|+	1|3	0|2	IFI16|IFI16	157288417|157288417	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.211000|-0.211000	0.09332|0.09332	-1.124000|-1.124000	0.02936|0.02936	-0.320000|-0.320000	0.08662|0.08662	GGA|AAG	IFI16	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x		0.423	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	G	NM_005531		159021793	+1	no_errors	ENST00000295809	ensembl	human	known	70_37	nonsense	SNP	0.000	T
IFIH1	64135	genome.wustl.edu	37	2	163124713	163124713	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:163124713C>A	ENST00000263642.2	-	14	3086	c.2691G>T	c.(2689-2691)aaG>aaT	p.K897N		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	897					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATGGGTTATTCTTGTAATGCT	0.353																																																	0													129.0	135.0	133.0					2																	163124713		2203	4300	6503	SO:0001583	missense	64135			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2691G>T	2.37:g.163124713C>A	ENSP00000263642:p.Lys897Asn		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_DEATH-like,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K897N	ENST00000263642.2	37	c.2691	CCDS2217.1	2	.	.	.	.	.	.	.	.	.	.	C	4.848	0.157640	0.09236	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.06218	3.33	5.31	0.356	0.16074	.	0.545312	0.21179	N	0.078845	T	0.04363	0.0120	L	0.38531	1.155	0.09310	N	1	B	0.27264	0.173	B	0.22152	0.038	T	0.41980	-0.9478	10	0.23891	T	0.37	-3.5409	6.0247	0.19648	0.0:0.5802:0.1312:0.2886	.	897	Q9BYX4	IFIH1_HUMAN	N	897	ENSP00000263642:K897N	ENSP00000263642:K897N	K	-	3	2	IFIH1	162832959	0.860000	0.29831	0.000000	0.03702	0.130000	0.20726	0.754000	0.26390	-0.009000	0.14296	0.650000	0.86243	AAG	IFIH1	-	NULL		0.353	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIH1	HGNC	protein_coding	OTTHUMT00000255078.2	C	NM_022168		163124713	-1	no_errors	ENST00000263642	ensembl	human	known	70_37	missense	SNP	0.010	A
IFIT2	3433	genome.wustl.edu	37	10	91066926	91066926	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:91066926T>G	ENST00000371826.3	+	2	1382	c.1213T>G	c.(1213-1215)Tca>Gca	p.S405A	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	405					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAACCAGAAATCAAGGGAGAA	0.403																																																	0													101.0	94.0	96.0					10																	91066926		1835	4102	5937	SO:0001583	missense	3433			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1213T>G	10.37:g.91066926T>G	ENSP00000360891:p.Ser405Ala		Q5T767	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S405A	ENST00000371826.3	37	c.1213	CCDS41548.1	10	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835590	0.32421	.	.	ENSG00000119922	ENST00000371826	T	0.17528	2.27	4.58	2.2	0.27929	Tetratricopeptide-like helical (1);	0.382752	0.23612	U	0.046338	T	0.17323	0.0416	M	0.73962	2.25	0.09310	N	1	P	0.37441	0.595	B	0.34931	0.192	T	0.18999	-1.0319	10	0.87932	D	0	-2.7771	4.9574	0.14048	0.283:0.0788:0.0:0.6382	.	405	P09913	IFIT2_HUMAN	A	405	ENSP00000360891:S405A	ENSP00000360891:S405A	S	+	1	0	IFIT2	91056906	0.000000	0.05858	0.023000	0.16930	0.208000	0.24298	0.190000	0.17057	0.478000	0.27488	0.533000	0.62120	TCA	IFIT2	-	NULL		0.403	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT2	HGNC	protein_coding	OTTHUMT00000049293.1	T	NM_001547		91066926	+1	no_errors	ENST00000371826	ensembl	human	known	70_37	missense	SNP	0.011	G
IFIT1B	439996	genome.wustl.edu	37	10	91143778	91143778	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:91143778A>G	ENST00000371809.3	+	2	788	c.708A>G	c.(706-708)ggA>ggG	p.G236G	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	236										endometrium(2)|large_intestine(3)|lung(8)	13						AAGCTGAAGGAGAAAAGTACA	0.428																																																	0													162.0	174.0	170.0					10																	91143778		2203	4300	6503	SO:0001819	synonymous_variant	439996				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.708A>G	10.37:g.91143778A>G			A7E245	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G236	ENST00000371809.3	37	c.708	CCDS31242.1	10																																																																																			IFIT1B	-	pfscan_TPR-contain_dom		0.428	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1B	HGNC	protein_coding	OTTHUMT00000049296.3	A	NM_001010987		91143778	+1	no_errors	ENST00000371809	ensembl	human	known	70_37	silent	SNP	0.989	G
IFNA6	3443	genome.wustl.edu	37	9	21350317	21350317	+	Nonstop_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:21350317T>G	ENST00000380210.1	-	1	1060	c.570A>C	c.(568-570)taA>taC	p.*190Y		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	0					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGATCAGGTCTTATTCCTTCC	0.428																																																	0													219.0	221.0	220.0					9																	21350317		2203	4300	6503	SO:0001578	stop_lost	3443				CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.570A>C	9.37:g.21350317T>G			Q5VYQ1	Nonstop_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.*190Y	ENST00000380210.1	37	c.570	CCDS6504.1	9	.	.	.	.	.	.	.	.	.	.	T	4.093	0.015282	0.07959	.	.	ENSG00000120235	ENST00000380210	.	.	.	3.71	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0305	0.30461	0.0:0.0:0.2073:0.7927	.	.	.	.	Y	190	.	.	X	-	3	2	IFNA6	21340317	0.000000	0.05858	0.009000	0.14445	0.027000	0.11550	0.614000	0.24314	0.383000	0.24910	0.443000	0.29094	TAA	IFNA6	-	NULL		0.428	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA6	HGNC	protein_coding	OTTHUMT00000051905.1	T	NM_021002		21350317	-1	no_errors	ENST00000380210	ensembl	human	known	70_37	nonstop	SNP	0.019	G
IFNGR1	3459	genome.wustl.edu	37	6	137519179	137519179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:137519179C>A	ENST00000367739.4	-	7	1580	c.1459G>T	c.(1459-1461)Gaa>Taa	p.E487*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.E459*	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	487					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CATGAAAATTCTTTGGAATCT	0.363																																																	0													83.0	84.0	84.0					6																	137519179		2203	4300	6503	SO:0001587	stop_gained	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1459G>T	6.37:g.137519179C>A	ENSP00000356713:p.Glu487*		B4DFT7|E1P587|Q53Y96	Nonsense_Mutation	SNP	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.E487*	ENST00000367739.4	37	c.1459	CCDS5185.1	6	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940753	0.73557	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	.	.	.	6.03	5.15	0.70609	.	0.810102	0.11244	N	0.584330	.	.	.	.	.	.	0.31183	N	0.701785	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.2317	13.3419	0.60549	0.0:0.8421:0.1579:0.0	.	.	.	.	X	487;459	.	ENSP00000356713:E487X	E	-	1	0	IFNGR1	137560872	0.001000	0.12720	0.013000	0.15412	0.002000	0.02628	0.995000	0.29706	1.539000	0.49286	-0.176000	0.13171	GAA	IFNGR1	-	NULL		0.363	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	C			137519179	-1	no_errors	ENST00000367739	ensembl	human	known	70_37	nonsense	SNP	0.020	A
IFT122	55764	genome.wustl.edu	37	3	129234393	129234393	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:129234393C>T	ENST00000348417.2	+	26	3293	c.3216C>T	c.(3214-3216)aaC>aaT	p.N1072N	IFT122_ENST00000347300.2_Silent_p.N1013N|IFT122_ENST00000296266.3_Silent_p.N1123N|IFT122_ENST00000431818.2_Silent_p.N922N|IFT122_ENST00000349441.2_Silent_p.N962N|IFT122_ENST00000504021.1_Silent_p.N949N|IFT122_ENST00000507564.1_Silent_p.N1065N|IFT122_ENST00000440957.2_Silent_p.N863N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1072					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACCTGGGCAACGTCTGCATCA	0.622																																																	0													42.0	36.0	38.0					3																	129234393		2202	4277	6479	SO:0001819	synonymous_variant	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3216C>T	3.37:g.129234393C>T			B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N1123	ENST00000348417.2	37	c.3369	CCDS3061.1	3																																																																																			IFT122	-	NULL		0.622	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	C	NM_018262		129234393	+1	no_errors	ENST00000296266	ensembl	human	known	70_37	silent	SNP	0.566	T
IGF2BP1	10642	genome.wustl.edu	37	17	47103856	47103856	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:47103856G>C	ENST00000290341.3	+	4	648	c.314G>C	c.(313-315)gGt>gCt	p.G105A	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.G105A	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	105	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCAGTATGGTACAGTAGAG	0.537																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													136.0	121.0	126.0					17																	47103856		2203	4300	6503	SO:0001583	missense	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.314G>C	17.37:g.47103856G>C	ENSP00000290341:p.Gly105Ala		C9JT33	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.G105A	ENST00000290341.3	37	c.314	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544835	0.86022	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.44083	0.93;2.4	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	0.984;1.0	D;D	0.97110	0.967;1.0	T	0.78595	-0.2143	10	0.87932	D	0	-11.5524	16.5604	0.84551	0.0:0.0:1.0:0.0	.	105;105	C9JT33;Q9NZI8	.;IF2B1_HUMAN	A	105	ENSP00000290341:G105A;ENSP00000389135:G105A	ENSP00000290341:G105A	G	+	2	0	IGF2BP1	44458855	1.000000	0.71417	0.982000	0.44146	0.979000	0.70002	6.859000	0.75467	2.683000	0.91414	0.655000	0.94253	GGT	IGF2BP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.537	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	G	NM_006546		47103856	+1	no_errors	ENST00000290341	ensembl	human	known	70_37	missense	SNP	0.993	C
IGF2BP3	10643	genome.wustl.edu	37	7	23353262	23353262	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:23353262C>A	ENST00000258729.3	-	13	1762	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	469	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCCATAAATTCTTCCCTGAGC	0.388																																																	0													73.0	71.0	71.0					7																	23353262		2203	4300	6503	SO:0001583	missense	10643			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1406G>T	7.37:g.23353262C>A	ENSP00000258729:p.Arg469Ile		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.R469I	ENST00000258729.3	37	c.1406	CCDS5382.1	7	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114033	0.77210	.	.	ENSG00000136231	ENST00000258729	T	0.30182	1.54	5.55	5.55	0.83447	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	L	0.39898	1.24	0.80722	D	1	D	0.54964	0.969	P	0.62740	0.906	T	0.05273	-1.0895	10	0.21014	T	0.42	0.0017	19.8764	0.96873	0.0:1.0:0.0:0.0	.	469	O00425	IF2B3_HUMAN	I	469	ENSP00000258729:R469I	ENSP00000258729:R469I	R	-	2	0	IGF2BP3	23319787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.768000	0.95171	0.655000	0.94253	AGA	IGF2BP3	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.388	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP3	HGNC	protein_coding	OTTHUMT00000250243.2	C	NM_006547		23353262	-1	no_errors	ENST00000258729	ensembl	human	known	70_37	missense	SNP	1.000	A
IGSF10	285313	genome.wustl.edu	37	3	151154914	151154914	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:151154914T>G	ENST00000282466.3	-	6	7434	c.7435A>C	c.(7435-7437)Att>Ctt	p.I2479L	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2479	Ig-like C2-type 11.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCCATTAATTTGAGGCCTG	0.388																																																	0													194.0	191.0	192.0					3																	151154914		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7435A>C	3.37:g.151154914T>G	ENSP00000282466:p.Ile2479Leu		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I2479L	ENST00000282466.3	37	c.7435	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	T	5.391	0.257411	0.10239	.	.	ENSG00000152580	ENST00000282466	T	0.66638	-0.22	5.3	-0.939	0.10408	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.204370	0.06041	N	0.654910	T	0.44623	0.1302	N	0.16368	0.405	0.09310	N	1	B;B	0.28178	0.202;0.021	B;B	0.27076	0.076;0.01	T	0.23440	-1.0188	10	0.07482	T	0.82	.	7.6166	0.28160	0.0:0.4387:0.1295:0.4318	.	2479;506	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	L	2479	ENSP00000282466:I2479L	ENSP00000282466:I2479L	I	-	1	0	IGSF10	152637604	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-0.269000	0.08596	-0.098000	0.12285	-0.256000	0.11100	ATT	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.388	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	T	NM_178822		151154914	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	0.000	G
IGSF10	285313	genome.wustl.edu	37	3	151155421	151155421	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:151155421C>T	ENST00000282466.3	-	6	6927	c.6928G>A	c.(6928-6930)Gac>Aac	p.D2310N	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2310	Ig-like C2-type 9.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGATAAAGTCGGCTGAATCT	0.423																																																	0													136.0	131.0	132.0					3																	151155421		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6928G>A	3.37:g.151155421C>T	ENSP00000282466:p.Asp2310Asn		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D2310N	ENST00000282466.3	37	c.6928	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981375	0.74474	.	.	ENSG00000152580	ENST00000282466	T	0.66638	-0.22	5.77	3.97	0.46021	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.266778	0.26200	N	0.025743	T	0.66963	0.2843	N	0.21240	0.645	0.47341	D	0.999397	D;D	0.71674	0.998;0.971	D;P	0.65573	0.936;0.692	T	0.61422	-0.7066	10	0.22109	T	0.4	.	12.9341	0.58303	0.0:0.8671:0.0:0.1329	.	2310;337	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	N	2310	ENSP00000282466:D2310N	ENSP00000282466:D2310N	D	-	1	0	IGSF10	152638111	1.000000	0.71417	0.005000	0.12908	0.969000	0.65631	4.628000	0.61282	0.784000	0.33661	0.591000	0.81541	GAC	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like		0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151155421	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	0.973	T
IGSF10	285313	genome.wustl.edu	37	3	151158441	151158441	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:151158441A>C	ENST00000282466.3	-	6	5963				IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTTTCTAAAAGTATtggttc	0.373																																																	0																																										SO:0001627	intron_variant	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5964-2056T>G	3.37:g.151158441A>C			Q86YJ9|Q8N772|Q8NA84	RNA	SNP	-	NULL	ENST00000282466.3	37	NULL	CCDS3160.1	3																																																																																			IGSF10	-	-		0.373	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	A	NM_178822		151158441	-1	no_errors	ENST00000495443	ensembl	human	known	70_37	rna	SNP	0.001	C
IGSF10	285313	genome.wustl.edu	37	3	151165248	151165248	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:151165248C>A	ENST00000282466.3	-	4	2520	c.2521G>T	c.(2521-2523)Gaa>Taa	p.E841*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	841					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAGAGAATTCTGTGCCATAA	0.408																																																	0													171.0	179.0	176.0					3																	151165248		2203	4300	6503	SO:0001587	stop_gained	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2521G>T	3.37:g.151165248C>A	ENSP00000282466:p.Glu841*		Q86YJ9|Q8N772|Q8NA84	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E841*	ENST00000282466.3	37	c.2521	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.945719	0.97134	.	.	ENSG00000152580	ENST00000282466	.	.	.	5.31	0.183	0.15082	.	0.597682	0.14689	N	0.304254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	6.5141	0.22239	0.0:0.3914:0.3948:0.2139	.	.	.	.	X	841	.	ENSP00000282466:E841X	E	-	1	0	IGSF10	152647938	0.000000	0.05858	0.001000	0.08648	0.099000	0.18886	-0.325000	0.07976	-0.281000	0.09141	0.591000	0.81541	GAA	IGSF10	-	NULL		0.408	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151165248	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	nonsense	SNP	0.004	A
IHH	3549	genome.wustl.edu	37	2	219920323	219920323	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:219920323T>C	ENST00000295731.6	-	3	841	c.842A>G	c.(841-843)gAc>gGc	p.D281G		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	281					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGTGATTGTCAGCCGTAAA	0.672																																																	0													43.0	46.0	45.0					2																	219920323		2203	4300	6503	SO:0001583	missense	3549			L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.842A>G	2.37:g.219920323T>C	ENSP00000295731:p.Asp281Gly		B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,pfscan_Intein_splice_site,prints_Hedgehog	p.D281G	ENST00000295731.6	37	c.842	CCDS33380.1	2	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196005	0.38806	.	.	ENSG00000163501	ENST00000295731	D	0.98684	-5.07	5.16	5.16	0.70880	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.390228	0.30365	N	0.009795	D	0.96944	0.9002	L	0.41356	1.27	0.41283	D	0.986923	B	0.31752	0.338	B	0.37015	0.239	D	0.96743	0.9548	10	0.31617	T	0.26	-14.2352	14.6672	0.68918	0.0:0.0:0.0:1.0	.	281	Q14623	IHH_HUMAN	G	281	ENSP00000295731:D281G	ENSP00000295731:D281G	D	-	2	0	IHH	219628567	1.000000	0.71417	0.949000	0.38748	0.831000	0.47069	2.554000	0.45845	1.929000	0.55896	0.459000	0.35465	GAC	IHH	-	pfam_Hint_dom,smart_Hint_dom_N,pirsf_Hedgehog,prints_Hedgehog		0.672	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IHH	HGNC	protein_coding	OTTHUMT00000336408.2	T	NM_002181		219920323	-1	no_errors	ENST00000295731	ensembl	human	known	70_37	missense	SNP	0.960	C
IKZF1	10320	genome.wustl.edu	37	7	50467665	50467665	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:50467665G>A	ENST00000331340.3	+	8	1055	c.900G>A	c.(898-900)gaG>gaA	p.E300E	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000357364.4_Silent_p.E213E|IKZF1_ENST00000359197.5_Silent_p.E258E|IKZF1_ENST00000438033.1_Silent_p.E213E|IKZF1_ENST00000343574.5_Silent_p.E213E|IKZF1_ENST00000439701.1_Silent_p.E258E|IKZF1_ENST00000349824.4_Silent_p.E157E|IKZF1_ENST00000346667.4_Silent_p.E70E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	300					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCAGCTACGAGAAGGAGAACG	0.637			"""D,T"""	BCL6	"""ALL, DLBCL"""																																			"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)											34.0	35.0	34.0					7																	50467665		2133	4248	6381	SO:0001819	synonymous_variant	10320			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.900G>A	7.37:g.50467665G>A			A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E300	ENST00000331340.3	37	c.900		7																																																																																			IKZF1	-	NULL		0.637	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	G	NM_006060		50467665	+1	no_errors	ENST00000331340	ensembl	human	known	70_37	silent	SNP	1.000	A
IKZF5	64376	genome.wustl.edu	37	10	124758126	124758127	+	Frame_Shift_Ins	INS	-	-	T	rs202154688		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:124758126_124758127insT	ENST00000368886.5	-	3	335_336	c.15_16insA	c.(13-18)aaaccafs	p.P6fs	IKZF5_ENST00000479103.1_5'UTR	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	6					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(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		AAAGGCTCTGGTTTTTTTTCAC	0.371																																																	0																																										SO:0001589	frameshift_variant	64376			AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.16dupA	10.37:g.124758134_124758134dupT	ENSP00000357881:p.Pro6fs		B3KVH7|D3DRE7|Q9H2T0	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P5fs	ENST00000368886.5	37	c.16_15	CCDS41574.1	10																																																																																			IKZF5	-	NULL		0.371	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF5	HGNC	protein_coding	OTTHUMT00000050820.2	-	NM_022466		124758127	-1	no_errors	ENST00000368886	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.996	T
IL12RB1	3594	genome.wustl.edu	37	19	18184372	18184372	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:18184372C>T	ENST00000600835.2	-	9	1036	c.738G>A	c.(736-738)gaG>gaA	p.E246E	IL12RB1_ENST00000322153.7_Silent_p.E246E|IL12RB1_ENST00000593993.2_Silent_p.E246E			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	246	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GGCCCAGCTGCTCCACCGAGA	0.572																																																	0													44.0	38.0	40.0					19																	18184372		2203	4300	6503	SO:0001819	synonymous_variant	3594			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.738G>A	19.37:g.18184372C>T			A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E246	ENST00000600835.2	37	c.738	CCDS54232.1	19																																																																																			IL12RB1	-	NULL		0.572	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	HGNC	protein_coding	OTTHUMT00000466525.3	C			18184372	-1	no_errors	ENST00000430026	ensembl	human	known	70_37	silent	SNP	0.002	T
IL17RD	54756	genome.wustl.edu	37	3	57135379	57135379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:57135379G>T	ENST00000296318.7	-	11	1080	c.992C>A	c.(991-993)tCa>tAa	p.S331*	IL17RD_ENST00000320057.5_Nonsense_Mutation_p.S187*|IL17RD_ENST00000463523.1_Nonsense_Mutation_p.S187*|IL17RD_ENST00000427856.2_Nonsense_Mutation_p.S307*	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	331					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ATCTAAATGTGAATATATATT	0.423																																																	0													29.0	32.0	31.0					3																	57135379		2203	4300	6503	SO:0001587	stop_gained	54756			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.992C>A	3.37:g.57135379G>T	ENSP00000296318:p.Ser331*		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Nonsense_Mutation	SNP	pfam_SEFIR,superfamily_TIR_dom	p.S331*	ENST00000296318.7	37	c.992	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	G	39	7.483719	0.98312	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	.	.	.	5.68	5.68	0.88126	.	0.199149	0.43260	D	0.000585	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4737	20.1819	0.98206	0.0:0.0:1.0:0.0	.	.	.	.	X	331;187;307;187	.	ENSP00000296318:S331X	S	-	2	0	IL17RD	57110419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.898000	0.75676	2.850000	0.98022	0.655000	0.94253	TCA	IL17RD	-	NULL		0.423	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	G	NM_017563		57135379	-1	no_errors	ENST00000296318	ensembl	human	known	70_37	nonsense	SNP	1.000	T
IL1R1	3554	genome.wustl.edu	37	2	102792863	102792863	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:102792863A>C	ENST00000410023.1	+	12	1672	c.1354A>C	c.(1354-1356)Atc>Ctc	p.I452L	IL1R1_ENST00000409929.1_Missense_Mutation_p.I421L|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.I452L|IL1R1_ENST00000424272.1_3'UTR|AC007271.3_ENST00000428188.1_RNA			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	452	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AAGACTGATTATCATTTTAGT	0.348																																																	0													59.0	60.0	60.0					2																	102792863		2203	4300	6503	SO:0001583	missense	3554			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1354A>C	2.37:g.102792863A>C	ENSP00000386380:p.Ile452Leu		Q587I7	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1R_rcpt,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.I452L	ENST00000410023.1	37	c.1354	CCDS2055.1	2	.	.	.	.	.	.	.	.	.	.	A	19.91	3.915246	0.73098	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.08193	3.12;3.12;3.12	5.61	1.98	0.26296	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.269566	0.40818	N	0.001008	T	0.15176	0.0366	M	0.79926	2.475	0.38901	D	0.957321	P;P	0.37158	0.585;0.488	B;B	0.42625	0.383;0.393	T	0.01692	-1.1294	10	0.72032	D	0.01	.	8.5002	0.33152	0.7678:0.0:0.2322:0.0	.	421;452	B8ZZW4;P14778	.;IL1R1_HUMAN	L	421;452;452	ENSP00000386776:I421L;ENSP00000386380:I452L;ENSP00000233946:I452L	ENSP00000233946:I452L	I	+	1	0	IL1R1	102159295	0.465000	0.25815	0.402000	0.26371	0.919000	0.55068	1.134000	0.31442	0.104000	0.17725	0.460000	0.39030	ATC	IL1R1	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1		0.348	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R1	HGNC	protein_coding	OTTHUMT00000253299.1	A			102792863	+1	no_errors	ENST00000233946	ensembl	human	known	70_37	missense	SNP	0.726	C
IL1RAPL1	11141	genome.wustl.edu	37	X	29301120	29301120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:29301120C>T	ENST00000378993.1	+	3	821	c.148C>T	c.(148-150)Cga>Tga	p.R50*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.R50*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	50	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.R50*(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAGCCTGTTCGAATCAAATG	0.413																																																	2	Substitution - Nonsense(2)	large_intestine(2)											143.0	126.0	132.0					X																	29301120		2202	4300	6502	SO:0001587	stop_gained	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.148C>T	X.37:g.29301120C>T	ENSP00000368278:p.Arg50*		A0AVG4|Q9UJ53	Nonsense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.R50*	ENST00000378993.1	37	c.148	CCDS14218.1	X	.	.	.	.	.	.	.	.	.	.	C	43	9.909426	0.99293	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	.	.	.	5.51	4.62	0.57501	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	13.7032	0.62622	0.1586:0.8414:0.0:0.0	.	.	.	.	X	50	.	ENSP00000305200:R50X	R	+	1	2	IL1RAPL1	29211041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.745000	0.38278	1.161000	0.42604	0.600000	0.82982	CGA	IL1RAPL1	-	smart_Ig_sub,pfscan_Ig-like		0.413	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	C	NM_014271		29301120	+1	no_errors	ENST00000302196	ensembl	human	known	70_37	nonsense	SNP	1.000	T
IL1RAPL2	26280	genome.wustl.edu	37	X	105011023	105011023	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:105011023A>G	ENST00000372582.1	+	11	2186	c.1430A>G	c.(1429-1431)gAc>gGc	p.D477G	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D477G	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	477	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTAACTCCAGACTATATTCTC	0.378																																																	0													91.0	83.0	85.0					X																	105011023		2203	4300	6503	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1430A>G	X.37:g.105011023A>G	ENSP00000361663:p.Asp477Gly		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II	p.D477G	ENST00000372582.1	37	c.1430	CCDS14517.1	X	.	.	.	.	.	.	.	.	.	.	A	11.09	1.536159	0.27475	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.02606	4.23;4.23;4.23	5.39	4.23	0.50019	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.086755	0.49916	D	0.000139	T	0.03564	0.0102	L	0.45051	1.395	0.53005	D	0.999964	B	0.15141	0.012	B	0.16722	0.016	T	0.42865	-0.9426	10	0.49607	T	0.09	.	9.4701	0.38837	0.916:0.0:0.084:0.0	.	477	Q9NP60	IRPL2_HUMAN	G	477;477;82	ENSP00000361663:D477G;ENSP00000344976:D477G;ENSP00000445576:D82G	ENSP00000344976:D477G	D	+	2	0	IL1RAPL2	104897679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.023000	0.64084	0.694000	0.31654	0.486000	0.48141	GAC	IL1RAPL2	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.378	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	A	NM_017416		105011023	+1	no_errors	ENST00000344799	ensembl	human	known	70_37	missense	SNP	1.000	G
IL1RL1	9173	genome.wustl.edu	37	2	102956678	102956678	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:102956678T>G	ENST00000233954.1	+	4	664	c.393T>G	c.(391-393)atT>atG	p.I131M	IL1RL1_ENST00000404917.2_Missense_Mutation_p.I14M|IL1RL1_ENST00000311734.2_Missense_Mutation_p.I131M|IL1RL1_ENST00000393393.3_Missense_Mutation_p.I131M|IL1RL1_ENST00000409584.1_Missense_Mutation_p.I131M	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	131	Ig-like C2-type 2.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATTCCAAAATTTATTGTCCTA	0.318																																																	0													73.0	72.0	72.0					2																	102956678		2203	4300	6503	SO:0001583	missense	9173			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.393T>G	2.37:g.102956678T>G	ENSP00000233954:p.Ile131Met		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.I131M	ENST00000233954.1	37	c.393	CCDS2057.1	2	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022935	0.54683	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	5.54	-1.73	0.08081	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123056	0.56097	D	0.000035	D	0.85177	0.5637	M	0.77820	2.39	0.30340	N	0.78579	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78700	-0.2102	10	0.56958	D	0.05	.	5.6613	0.17670	0.264:0.2358:0.0:0.5002	.	14;131;131	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	M	131;131;14;131;131	ENSP00000233954:I131M;ENSP00000377052:I131M;ENSP00000384822:I14M;ENSP00000310371:I131M;ENSP00000386618:I131M	ENSP00000233954:I131M	I	+	3	3	IL1RL1	102323110	0.322000	0.24634	0.020000	0.16555	0.149000	0.21700	0.572000	0.23684	0.033000	0.15463	-1.293000	0.01348	ATT	IL1RL1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_IL1_rcpt_I/II		0.318	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL1	HGNC	protein_coding	OTTHUMT00000253296.1	T	NM_016232		102956678	+1	no_errors	ENST00000233954	ensembl	human	known	70_37	missense	SNP	0.034	G
IFNLR1	163702	genome.wustl.edu	37	1	24495963	24495963	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:24495963G>A	ENST00000327535.1	-	3	323	c.311C>T	c.(310-312)tCt>tTt	p.S104F	IFNLR1_ENST00000374421.3_Missense_Mutation_p.S104F|IFNLR1_ENST00000327575.2_Missense_Mutation_p.S104F|IFNLR1_ENST00000374419.1_Missense_Mutation_p.S21F|IFNLR1_ENST00000374418.3_Missense_Mutation_p.S104F	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	104	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											GGAGCTGGGAGAAACCGTCCG	0.537																																																	0													97.0	91.0	93.0					1																	24495963		2203	4300	6503	SO:0001583	missense	163702			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.311C>T	1.37:g.24495963G>A	ENSP00000327824:p.Ser104Phe		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S104F	ENST00000327535.1	37	c.311	CCDS248.1	1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146633	0.37923	.	.	ENSG00000185436	ENST00000327535;ENST00000327575;ENST00000374421;ENST00000374419;ENST00000374418	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.41	3.43	0.39272	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.858279	0.10509	N	0.666373	T	0.78298	0.4261	L	0.39633	1.23	0.09310	N	1	P;D;D;D	0.89917	0.951;0.963;0.982;1.0	P;P;P;D	0.74348	0.578;0.539;0.786;0.983	T	0.64118	-0.6482	10	0.42905	T	0.14	-17.7859	7.8575	0.29491	0.0921:0.1661:0.7418:0.0	.	104;104;104;104	Q8IU57-3;Q8IV66;Q8IU57;Q8IU57-2	.;.;I28RA_HUMAN;.	F	104;104;104;21;104	ENSP00000327824:S104F;ENSP00000328994:S104F;ENSP00000363542:S104F;ENSP00000363539:S104F	ENSP00000327824:S104F	S	-	2	0	IL28RA	24368550	0.007000	0.16637	0.079000	0.20413	0.009000	0.06853	1.390000	0.34464	2.532000	0.85374	0.655000	0.94253	TCT	IL28RA	-	superfamily_Fibronectin_type3		0.537	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL28RA	HGNC	protein_coding	OTTHUMT00000008402.1	G	NM_170743		24495963	-1	no_errors	ENST00000327535	ensembl	human	known	70_37	missense	SNP	0.002	A
IL4R	3566	genome.wustl.edu	37	16	27373632	27373632	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:27373632G>T	ENST00000395762.2	+	11	1218	c.959G>T	c.(958-960)aGg>aTg	p.R320M	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_Missense_Mutation_p.R320M|IL4R_ENST00000170630.2_Missense_Mutation_p.R320M|IL4R_ENST00000380922.3_Missense_Mutation_p.R305M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	320					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AACATGAAAAGGGATGAAGAT	0.493																																																	0													94.0	101.0	99.0					16																	27373632		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.959G>T	16.37:g.27373632G>T	ENSP00000379111:p.Arg320Met		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R320M	ENST00000395762.2	37	c.959	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019300	0.54576	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	4.8	-9.26	0.00662	.	0.547917	0.16574	N	0.208504	T	0.11537	0.0281	L	0.51422	1.61	0.09310	N	1	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.51355	0.667;0.667;0.667	T	0.01697	-1.1293	10	0.52906	T	0.07	-34.6043	9.9803	0.41809	0.6873:0.0:0.206:0.1066	.	305;320;320	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	M	320;320;305;320	ENSP00000379111:R320M;ENSP00000441667:R320M;ENSP00000370309:R305M;ENSP00000170630:R320M	ENSP00000170630:R320M	R	+	2	0	IL4R	27281133	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.994000	0.01474	-1.595000	0.01613	-0.140000	0.14226	AGG	IL4R	-	NULL		0.493	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	G			27373632	+1	no_errors	ENST00000170630	ensembl	human	known	70_37	missense	SNP	0.000	T
IL6ST	3572	genome.wustl.edu	37	5	55237196	55237196	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:55237196G>A	ENST00000381298.2	-	17	2783	c.2471C>T	c.(2470-2472)tCc>tTc	p.S824F	CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000336909.5_Missense_Mutation_p.S824F|IL6ST_ENST00000502326.3_Missense_Mutation_p.S824F|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.S763F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	824					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCTGGACTGGATTCATGCTG	0.393			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	0													93.0	95.0	94.0					5																	55237196		2203	4300	6503	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2471C>T	5.37:g.55237196G>A	ENSP00000370698:p.Ser824Phe		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S824F	ENST00000381298.2	37	c.2471	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850386	0.32699	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.36340	1.49;1.49;1.26	5.73	3.92	0.45320	.	0.883617	0.10401	N	0.679210	T	0.19005	0.0456	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.19778	-1.0295	10	0.35671	T	0.21	.	6.4702	0.22003	0.2059:0.1331:0.661:0.0	.	824;763;824	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	F	824;824;763	ENSP00000370698:S824F;ENSP00000338799:S824F;ENSP00000370694:S763F	ENSP00000338799:S824F	S	-	2	0	IL6ST	55272953	0.034000	0.19679	0.400000	0.26346	0.966000	0.64601	0.378000	0.20569	0.858000	0.35431	0.557000	0.71058	TCC	IL6ST	-	NULL		0.393	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	G	NM_002184		55237196	-1	no_errors	ENST00000336909	ensembl	human	known	70_37	missense	SNP	0.001	A
ILDR1	286676	genome.wustl.edu	37	3	121720196	121720196	+	Missense_Mutation	SNP	C	C	T	rs146174741		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:121720196C>T	ENST00000344209.5	-	5	731	c.605G>A	c.(604-606)cGc>cAc	p.R202H	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000273691.3_Missense_Mutation_p.R202H|ILDR1_ENST00000462014.1_Missense_Mutation_p.R214H	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	202	Cys-rich.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCAGGGACAGCGGATATAGCA	0.572																																																	0								C	HIS/ARG,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	80.0	84.0		605,,605	6.0	1.0	3	dbSNP_134	84	0,8600		0,0,4300	no	missense,intron,missense	ILDR1	NM_001199799.1,NM_001199800.1,NM_175924.3	29,,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,,probably-damaging	202/547,,202/503	121720196	1,13005	2203	4300	6503	SO:0001583	missense	286676			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.605G>A	3.37:g.121720196C>T	ENSP00000345667:p.Arg202His		Q6ZP61|Q7Z578	Missense_Mutation	SNP	pfam_LISCH7,smart_Ig_sub	p.R202H	ENST00000344209.5	37	c.605	CCDS56271.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.331651	0.95733	2.27E-4	0.0	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000462014	T;T;T	0.60797	0.16;0.16;0.16	5.98	5.98	0.97165	LISCH7 (1);	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.72769	-0.4193	10	0.30854	T	0.27	-10.2811	17.95	0.89050	0.0:1.0:0.0:0.0	.	202;202;214	Q86SU0;Q86SU0-2;Q86SU0-6	ILDR1_HUMAN;.;.	H	202;202;214	ENSP00000273691:R202H;ENSP00000345667:R202H;ENSP00000419414:R214H	ENSP00000273691:R202H	R	-	2	0	ILDR1	123202886	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.670000	0.54569	2.847000	0.97988	0.591000	0.81541	CGC	ILDR1	-	pfam_LISCH7		0.572	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ILDR1	HGNC	protein_coding	OTTHUMT00000355666.1	C	NM_175924		121720196	-1	no_errors	ENST00000344209	ensembl	human	known	70_37	missense	SNP	1.000	T
INA	9118	genome.wustl.edu	37	10	105048397	105048397	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:105048397G>A	ENST00000369849.4	+	3	1520	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	491	Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AAATATAGAAGAAACCACCAT	0.338																																																	0													40.0	42.0	41.0					10																	105048397		2203	4300	6503	SO:0001583	missense	9118			S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1471G>A	10.37:g.105048397G>A	ENSP00000358865:p.Glu491Lys		B1AQK0|Q9BRC5	Missense_Mutation	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.E491K	ENST00000369849.4	37	c.1471	CCDS7545.1	10	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114712	0.56505	.	.	ENSG00000148798	ENST00000369849	D	0.84370	-1.84	5.4	5.4	0.78164	.	0.354676	0.29239	N	0.012723	T	0.79411	0.4441	N	0.14661	0.345	0.48901	D	0.999727	P	0.48911	0.917	P	0.46172	0.506	T	0.83190	-0.0084	10	0.72032	D	0.01	.	16.4524	0.83996	0.0:0.0:1.0:0.0	.	491	Q16352	AINX_HUMAN	K	491	ENSP00000358865:E491K	ENSP00000358865:E491K	E	+	1	0	INA	105038387	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.029000	0.57253	2.691000	0.91804	0.557000	0.71058	GAA	INA	-	NULL		0.338	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INA	HGNC	protein_coding	OTTHUMT00000050145.1	G	NM_032727		105048397	+1	no_errors	ENST00000369849	ensembl	human	known	70_37	missense	SNP	1.000	A
INPP4B	8821	genome.wustl.edu	37	4	143129638	143129638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:143129638C>A	ENST00000513000.1	-	15	1445	c.1012G>T	c.(1012-1014)Gaa>Taa	p.E338*	INPP4B_ENST00000508116.1_Nonsense_Mutation_p.E338*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.E338*|INPP4B_ENST00000509777.1_Nonsense_Mutation_p.E338*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.E338*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	338					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GGAACAAATTCTAATGTTTTC	0.299																																																	0													104.0	106.0	105.0					4																	143129638		2203	4300	6503	SO:0001587	stop_gained	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1012G>T	4.37:g.143129638C>A	ENSP00000425487:p.Glu338*		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Nonsense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E338*	ENST00000513000.1	37	c.1012	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	C	38	6.867022	0.97897	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	.	.	.	5.71	4.87	0.63330	.	0.051674	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.6154	0.62105	0.0:0.9242:0.0:0.0758	.	.	.	.	X	338;338;338;209;338;338;153;153;338;209	.	ENSP00000262992:E338X	E	-	1	0	INPP4B	143349088	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.205000	0.58466	1.421000	0.47157	0.555000	0.69702	GAA	INPP4B	-	NULL		0.299	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	C	NM_003866		143129638	-1	no_errors	ENST00000509777	ensembl	human	known	70_37	nonsense	SNP	1.000	A
INSR	3643	genome.wustl.edu	37	19	7128913	7128913	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:7128913G>T	ENST00000302850.5	-	15	3037	c.2895C>A	c.(2893-2895)gtC>gtA	p.V965V	INSR_ENST00000341500.5_Silent_p.V953V	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	965					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGAAGAGAAAGACAAAGATGA	0.393																																																	0													76.0	83.0	81.0					19																	7128913		2203	4300	6503	SO:0001819	synonymous_variant	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2895C>A	19.37:g.7128913G>T			Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V965	ENST00000302850.5	37	c.2895	CCDS12176.1	19																																																																																			INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt		0.393	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	G			7128913	-1	no_errors	ENST00000302850	ensembl	human	known	70_37	silent	SNP	1.000	T
INTS3	65123	genome.wustl.edu	37	1	153737475	153737475	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:153737475C>A	ENST00000318967.2	+	20	2594	c.2026C>A	c.(2026-2028)Ctc>Atc	p.L676I	INTS3_ENST00000435409.2_Missense_Mutation_p.L676I|INTS3_ENST00000512605.1_Missense_Mutation_p.L470I|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000456435.1_Missense_Mutation_p.L470I	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	677					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTAGACCTTCTCTCCGAGCT	0.527																																																	0													228.0	211.0	217.0					1																	153737475		2203	4300	6503	SO:0001583	missense	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2026C>A	1.37:g.153737475C>A	ENSP00000318641:p.Leu676Ile		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	pfam_Int_cplx_su3	p.L676I	ENST00000318967.2	37	c.2026	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499229	0.64298	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.91	3.97	0.46021	.	0.000000	0.64402	D	0.000006	T	0.35335	0.0928	L	0.47716	1.5	0.43069	D	0.994709	P;B;P	0.41102	0.738;0.363;0.738	B;B;B	0.42593	0.392;0.096;0.196	T	0.41752	-0.9491	9	0.72032	D	0.01	.	9.2687	0.37657	0.0:0.8999:0.0:0.1001	.	470;677;676	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	I	676;470;676;470	.	ENSP00000318641:L676I	L	+	1	0	INTS3	152004099	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.070000	0.30653	2.540000	0.85666	0.563000	0.77884	CTC	INTS3	-	NULL		0.527	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	C	NM_023015		153737475	+1	no_errors	ENST00000318967	ensembl	human	known	70_37	missense	SNP	1.000	A
INTS6	26512	genome.wustl.edu	37	13	51997186	51997186	+	Intron	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:51997186T>C	ENST00000311234.4	-	4	902				INTS6_ENST00000420668.2_Intron|INTS6_ENST00000425000.1_Intron|INTS6_ENST00000491723.1_Intron|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000398119.2_Intron|INTS6_ENST00000497989.1_5'Flank	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6						signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		agataatacgttttctagcct	0.343																																																	0																																										SO:0001627	intron_variant	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.429+7243A>G	13.37:g.51997186T>C			Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	RNA	SNP	-	NULL	ENST00000311234.4	37	NULL	CCDS9428.1	13																																																																																			INTS6	-	-		0.343	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	T	NM_012141		51997186	-1	no_errors	ENST00000461515	ensembl	human	known	70_37	rna	SNP	0.102	C
IQCG	84223	genome.wustl.edu	37	3	197618337	197618337	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:197618337C>A	ENST00000265239.6	-	11	1601	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	IQCG_ENST00000455191.1_Nonsense_Mutation_p.E393*	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	393	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTCTTTAATTCCAAGAGATCC	0.373																																																	0													241.0	234.0	236.0					3																	197618337		2203	4299	6502	SO:0001587	stop_gained	84223			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1177G>T	3.37:g.197618337C>A	ENSP00000265239:p.Glu393*		Q9BST2|Q9HAG8	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.E393*	ENST00000265239.6	37	c.1177	CCDS3331.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.938124	0.97948	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	.	.	.	5.35	4.48	0.54585	.	0.190105	0.44688	D	0.000439	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-18.1375	14.1455	0.65349	0.0:0.9266:0.0:0.0734	.	.	.	.	X	393	.	ENSP00000265239:E393X	E	-	1	0	IQCG	199102734	1.000000	0.71417	0.659000	0.29680	0.627000	0.37826	3.653000	0.54446	1.400000	0.46741	0.650000	0.86243	GAA	IQCG	-	pfscan_IQ_motif_EF-hand-BS		0.373	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	C	NM_032263		197618337	-1	no_errors	ENST00000265239	ensembl	human	known	70_37	nonsense	SNP	0.992	A
IQGAP2	10788	genome.wustl.edu	37	5	75967719	75967719	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:75967719C>T	ENST00000274364.6	+	24	3276	c.2979C>T	c.(2977-2979)atC>atT	p.I993I	IQGAP2_ENST00000502745.1_Silent_p.I489I|IQGAP2_ENST00000396234.3_Silent_p.I489I|IQGAP2_ENST00000379730.3_Silent_p.I495I	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	993	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGAGATCATCGACGACAAGT	0.502																																																	0													66.0	67.0	67.0					5																	75967719		2203	4300	6503	SO:0001819	synonymous_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2979C>T	5.37:g.75967719C>T			A8K4V1|B7Z8A4|J3KR91	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.I993	ENST00000274364.6	37	c.2979	CCDS34188.1	5																																																																																			IQGAP2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.502	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	C	NM_006633		75967719	+1	no_errors	ENST00000274364	ensembl	human	known	70_37	silent	SNP	0.029	T
IQSEC1	9922	genome.wustl.edu	37	3	12950878	12950878	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:12950878A>C	ENST00000273221.4	-	11	2731	c.2515T>G	c.(2515-2517)Tta>Gta	p.L839V		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	839	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGTTTATTAACACTTTGATA	0.552																																																	0													113.0	116.0	115.0					3																	12950878		2203	4300	6503	SO:0001583	missense	9922			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2515T>G	3.37:g.12950878A>C	ENSP00000273221:p.Leu839Val		O94863|Q96D85	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.L839V	ENST00000273221.4	37	c.2515	CCDS33703.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.76|16.76	3.212366|3.212366	0.58452|0.58452	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247|ENST00000450726	T;T|T	0.52754|0.52754	0.65;0.65|0.65	4.76|4.76	-0.389|-0.389	0.12455|0.12455	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55832|0.55832	0.1945|0.1945	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	B;D;B|.	0.65815|.	0.176;0.995;0.176|.	B;D;B|.	0.79784|.	0.183;0.993;0.152|.	T|T	0.58668|0.58668	-0.7596|-0.7596	9|6	0.12103|0.87932	T|D	0.63|0	.|.	11.1101|11.1101	0.48228|0.48228	0.3844:0.0:0.6156:0.0|0.3844:0.0:0.6156:0.0	.|.	825;825;839|.	E9PG60;C9JMG9;Q6DN90|.	.;.;IQEC1_HUMAN|.	V|G	839;825;825|839	ENSP00000273221:L839V;ENSP00000402299:L825V|ENSP00000397811:V839G	ENSP00000273221:L839V|ENSP00000397811:V839G	L|V	-|-	1|2	2|0	IQSEC1|IQSEC1	12925878|12925878	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.960000|0.960000	0.62799|0.62799	2.087000|2.087000	0.41653|0.41653	-0.233000|-0.233000	0.09797|0.09797	-0.256000|-0.256000	0.11100|0.11100	TTA|GTT	IQSEC1	-	smart_Pleckstrin_homology		0.552	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	HGNC	protein_coding	OTTHUMT00000339865.2	A	NM_014869		12950878	-1	no_errors	ENST00000273221	ensembl	human	known	70_37	missense	SNP	1.000	C
IRX4	50805	genome.wustl.edu	37	5	1879762	1879762	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:1879762G>A	ENST00000505790.1	-	5	1048	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.R198W|IRX4_ENST00000231357.2_Missense_Mutation_p.R198W	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	198					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TTGAGGCGCCGGCGCGCGTTG	0.647																																																	0													106.0	88.0	94.0					5																	1879762		2203	4300	6503	SO:0001583	missense	50805			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.592C>T	5.37:g.1879762G>A	ENSP00000423161:p.Arg198Trp		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.R198W	ENST00000505790.1	37	c.592	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112101	0.77210	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	D;D;D	0.93953	-3.32;-3.32;-3.32	4.55	3.67	0.42095	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.058100	0.64402	D	0.000004	D	0.97176	0.9077	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96495	0.9367	10	0.87932	D	0	-24.7689	6.3391	0.21312	0.0972:0.0:0.7183:0.1844	.	198	P78413	IRX4_HUMAN	W	198	ENSP00000231357:R198W;ENSP00000423161:R198W;ENSP00000424235:R198W	ENSP00000231357:R198W	R	-	1	2	IRX4	1932762	0.719000	0.27986	1.000000	0.80357	0.997000	0.91878	0.843000	0.27640	2.067000	0.61834	0.462000	0.41574	CGG	IRX4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.647	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	G	NM_016358		1879762	-1	no_errors	ENST00000231357	ensembl	human	known	70_37	missense	SNP	1.000	A
IRX4	50805	genome.wustl.edu	37	5	1881980	1881980	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:1881980G>A	ENST00000505790.1	-	3	695	c.239C>T	c.(238-240)tCg>tTg	p.S80L	CTD-2194D22.3_ENST00000506335.1_RNA|IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000513692.1_Missense_Mutation_p.S80L|IRX4_ENST00000231357.2_Missense_Mutation_p.S80L	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	80					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		ATAGCCCTGCGATCCGCCATA	0.687																																																	0													13.0	15.0	14.0					5																	1881980		2172	4268	6440	SO:0001583	missense	50805			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.239C>T	5.37:g.1881980G>A	ENSP00000423161:p.Ser80Leu		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.S80L	ENST00000505790.1	37	c.239	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	g	14.77	2.634193	0.47049	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	T;T;T;T	0.67345	-0.25;-0.25;-0.25;-0.26	3.9	3.9	0.45041	.	0.352416	0.25625	U	0.029395	T	0.49609	0.1567	L	0.43923	1.385	0.33579	D	0.599661	P	0.49253	0.921	B	0.29524	0.103	T	0.67715	-0.5599	10	0.48119	T	0.1	-10.823	11.7327	0.51746	0.0:0.1802:0.8198:0.0	.	80	P78413	IRX4_HUMAN	L	80	ENSP00000231357:S80L;ENSP00000423161:S80L;ENSP00000424235:S80L;ENSP00000421772:S80L	ENSP00000231357:S80L	S	-	2	0	IRX4	1934980	0.594000	0.26849	0.996000	0.52242	0.403000	0.30841	2.049000	0.41288	1.896000	0.54893	0.461000	0.40582	TCG	IRX4	-	NULL		0.687	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	G	NM_016358		1881980	-1	no_errors	ENST00000231357	ensembl	human	known	70_37	missense	SNP	0.996	A
ISL1	3670	genome.wustl.edu	37	5	50683411	50683411	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:50683411C>T	ENST00000230658.7	+	3	891	c.306C>T	c.(304-306)atC>atT	p.I102I	ISL1_ENST00000511384.1_Silent_p.I102I|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	102	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGTATCACATCGAGTGTTTCC	0.602																																																	0													50.0	53.0	52.0					5																	50683411		2106	4218	6324	SO:0001819	synonymous_variant	3670			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.306C>T	5.37:g.50683411C>T			P20663|P47894	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.I102	ENST00000230658.7	37	c.306	CCDS43314.1	5	.	.	.	.	.	.	.	.	.	.	C	10.82	1.456987	0.26161	.	.	ENSG00000016082	ENST00000505475	.	.	.	5.68	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.0806	0.30741	0.1303:0.7327:0.0:0.1371	.	.	.	.	X	49	.	ENSP00000421737:R49X	R	+	1	2	ISL1	50719168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.215000	0.32431	0.354000	0.24105	0.555000	0.69702	CGA	ISL1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.602	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL1	HGNC	protein_coding	OTTHUMT00000368413.3	C	NM_002202		50683411	+1	no_errors	ENST00000230658	ensembl	human	known	70_37	silent	SNP	1.000	T
ISLR2	57611	genome.wustl.edu	37	15	74426936	74426936	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:74426936G>T	ENST00000361742.3	+	4	2610	c.1841G>T	c.(1840-1842)tGc>tTc	p.C614F	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.C614F|ISLR2_ENST00000565159.1_Missense_Mutation_p.C614F|ISLR2_ENST00000435464.1_Missense_Mutation_p.C614F|ISLR2_ENST00000419208.1_Missense_Mutation_p.C614F|ISLR2_ENST00000453268.2_Missense_Mutation_p.C614F|ISLR2_ENST00000445793.1_Missense_Mutation_p.C614F	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	614					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCCGCCTGCTGCCATCTGCTG	0.632											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													37.0	34.0	35.0					15																	74426936		2198	4297	6495	SO:0001583	missense	57611				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1841G>T	15.37:g.74426936G>T	ENSP00000355402:p.Cys614Phe	1152	A8K352|Q9P263	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like	p.C614F	ENST00000361742.3	37	c.1841	CCDS10259.1	15	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532779	0.45073	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.32530	0.975	0.80722	D	1	B	0.32071	0.355	B	0.29267	0.1	T	0.47341	-0.9125	10	0.56958	D	0.05	.	16.6828	0.85297	0.0:0.0:1.0:0.0	.	614	Q6UXK2	ISLR2_HUMAN	F	614;614;614;614;203;614	ENSP00000403244:C614F;ENSP00000355402:C614F;ENSP00000411443:C614F;ENSP00000411834:C614F;ENSP00000408872:C614F	ENSP00000355402:C614F	C	+	2	0	ISLR2	72213989	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.461000	0.97646	2.233000	0.73108	0.313000	0.20887	TGC	ISLR2	-	NULL		0.632	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	HGNC	protein_coding	OTTHUMT00000269046.1	G	NM_020851		74426936	+1	no_errors	ENST00000361742	ensembl	human	known	70_37	missense	SNP	1.000	T
ITGA1	3672	genome.wustl.edu	37	5	52206101	52206101	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:52206101G>A	ENST00000282588.6	+	14	2167	c.1709G>A	c.(1708-1710)cGt>cAt	p.R570H		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	570					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGCGGGGCTCGTTTTGGAACT	0.463																																																	0													73.0	77.0	76.0					5																	52206101		2203	4300	6503	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1709G>A	5.37:g.52206101G>A	ENSP00000282588:p.Arg570His		B2RNU0	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R570H	ENST00000282588.6	37	c.1709	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721735	0.89298	.	.	ENSG00000213949	ENST00000282588	T	0.26518	1.73	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	L	0.51422	1.61	0.80722	D	1	D	0.58268	0.982	P	0.49752	0.621	T	0.04242	-1.0966	10	0.62326	D	0.03	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	570	P56199	ITA1_HUMAN	H	570	ENSP00000282588:R570H	ENSP00000282588:R570H	R	+	2	0	ITGA1	52241858	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.367000	0.97148	2.850000	0.98022	0.650000	0.86243	CGT	ITGA1	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.463	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	G	NM_181501		52206101	+1	no_errors	ENST00000282588	ensembl	human	known	70_37	missense	SNP	1.000	A
ITGA8	8516	genome.wustl.edu	37	10	15590565	15590565	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:15590565A>G	ENST00000378076.3	-	27	3122	c.2769T>C	c.(2767-2769)aaT>aaC	p.N923N		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	923					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATTTGTACAATTCTGCAAAC	0.433																																																	0													98.0	85.0	90.0					10																	15590565		2203	4300	6503	SO:0001819	synonymous_variant	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2769T>C	10.37:g.15590565A>G			B0YJ31|Q5VX94	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.N923	ENST00000378076.3	37	c.2769	CCDS31155.1	10																																																																																			ITGA8	-	pfam_Integrin_alpha-2		0.433	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	A	NM_003638		15590565	-1	no_errors	ENST00000378076	ensembl	human	known	70_37	silent	SNP	0.687	G
ITGAE	3682	genome.wustl.edu	37	17	3643106	3643106	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:3643106C>T	ENST00000263087.4	-	20	2613	c.2515G>A	c.(2515-2517)Gtc>Atc	p.V839I	ITGAE_ENST00000571185.1_5'Flank	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	839					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CACTGAGAGACGGTGGTGGCC	0.527																																					NSCLC(182;635 2928 8995 38788)												0													187.0	148.0	161.0					17																	3643106		2203	4300	6503	SO:0001583	missense	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2515G>A	17.37:g.3643106C>T	ENSP00000263087:p.Val839Ile		Q17RS6|Q9NZU9	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.V839I	ENST00000263087.4	37	c.2515	CCDS32531.1	17	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.520892	0.00967	.	.	ENSG00000083457	ENST00000263087	T	0.45276	0.9	4.86	-5.75	0.02384	Integrin alpha-2 (1);	.	.	.	.	T	0.09468	0.0233	N	0.00677	-1.265	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.35674	-0.9779	9	0.06757	T	0.87	.	6.599	0.22691	0.0:0.3485:0.4008:0.2507	.	839	P38570	ITAE_HUMAN	I	839	ENSP00000263087:V839I	ENSP00000263087:V839I	V	-	1	0	ITGAE	3589855	0.000000	0.05858	0.038000	0.18304	0.304000	0.27724	-1.022000	0.03611	-0.840000	0.04206	-0.494000	0.04653	GTC	ITGAE	-	pfam_Integrin_alpha-2		0.527	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	C	NM_002208		3643106	-1	no_errors	ENST00000263087	ensembl	human	known	70_37	missense	SNP	0.006	T
ITGAL	3683	genome.wustl.edu	37	16	30495257	30495257	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:30495257G>T	ENST00000356798.6	+	8	1012	c.832G>T	c.(832-834)Gac>Tac	p.D278Y	ITGAL_ENST00000358164.5_Missense_Mutation_p.D195Y|ITGAL_ENST00000433423.2_Intron|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	278	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGCGGCCAAAGACATCATCCG	0.597																																					NSCLC(110;1462 1641 3311 33990 49495)												0													186.0	162.0	170.0					16																	30495257		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.832G>T	16.37:g.30495257G>T	ENSP00000349252:p.Asp278Tyr		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.D278Y	ENST00000356798.6	37	c.832	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848900	0.71603	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.24151	1.87;1.87	5.97	2.82	0.32997	von Willebrand factor, type A (3);	0.256528	0.27668	N	0.018342	T	0.35248	0.0925	M	0.79926	2.475	0.80722	D	1	P;P	0.51240	0.943;0.943	P;P	0.48488	0.579;0.579	T	0.29274	-1.0017	10	0.72032	D	0.01	.	7.3219	0.26531	0.1658:0.1538:0.6803:0.0	.	195;278	Q96HB1;P20701	.;ITAL_HUMAN	Y	278;195	ENSP00000349252:D278Y;ENSP00000350886:D195Y	ENSP00000349252:D278Y	D	+	1	0	ITGAL	30402758	0.647000	0.27304	0.997000	0.53966	0.964000	0.63967	0.851000	0.27751	1.540000	0.49301	0.591000	0.81541	GAC	ITGAL	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.597	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	G			30495257	+1	no_errors	ENST00000356798	ensembl	human	known	70_37	missense	SNP	0.988	T
ITGB2	3689	genome.wustl.edu	37	21	46320235	46320235	+	Splice_Site	SNP	G	G	A	rs150327269		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897C>T	c.(895-897)ttC>ttT	p.F299F	ITGB2_ENST00000397857.1_Splice_Site_p.F299F|ITGB2_ENST00000355153.4_Splice_Site_p.F299F|ITGB2_ENST00000302347.5_Splice_Site_p.F299F|ITGB2_ENST00000397854.3_Splice_Site_p.F242F|ITGB2_ENST00000397852.1_Splice_Site_p.F299F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	299	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	120.0	94.0	103.0		897,897	-7.0	0.4	21	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ITGB2	NM_000211.3,NM_001127491.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	299/770,299/770	46320235	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	3689			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.897+1C>T	21.37:g.46320235G>A			B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.F299	ENST00000397850.2	37	c.897	CCDS13716.1	21																																																																																			ITGB2	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N		0.637	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	G	NM_000211	Silent	46320235	-1	no_errors	ENST00000302347	ensembl	human	known	70_37	silent	SNP	0.785	A
ITGB3BP	23421	genome.wustl.edu	37	1	63906588	63906588	+	3'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:63906588A>C	ENST00000271002.10	-	0	803				ITGB3BP_ENST00000461681.1_5'UTR|ITGB3BP_ENST00000371092.3_3'UTR	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)						apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TTACATTGAGATTATCTACTG	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	23421			U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.*188T>G	1.37:g.63906588A>C			B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	RNA	SNP	-	NULL	ENST00000271002.10	37	NULL	CCDS30736.1	1																																																																																			ITGB3BP	-	-		0.378	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB3BP	HGNC	protein_coding	OTTHUMT00000037242.2	A	NM_014288		63906588	-1	no_errors	ENST00000461681	ensembl	human	known	70_37	rna	SNP	1.000	C
ITIH3	3699	genome.wustl.edu	37	3	52835148	52835148	+	Missense_Mutation	SNP	G	G	A	rs368953071	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:52835148G>A	ENST00000449956.2	+	11	1375	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	ITIH3_ENST00000416872.2_Missense_Mutation_p.D457N	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	457	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTCTGATGCCGATTTGCAGTT	0.488													G|||	2	0.000399361	0.0	0.0	5008	,	,		20190	0.0		0.0	False		,,,				2504	0.002																0								G	ASN/ASP	1,3945		0,1,1972	51.0	52.0	52.0		1369	-5.1	0.0	3		52	0,8290		0,0,4145	no	missense	ITIH3	NM_002217.3	23	0,1,6117	AA,AG,GG		0.0,0.0253,0.0082	benign	457/891	52835148	1,12235	1973	4145	6118	SO:0001583	missense	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1369G>A	3.37:g.52835148G>A	ENSP00000415769:p.Asp457Asn		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D457N	ENST00000449956.2	37	c.1369	CCDS46845.1	3	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096959	0.20552	2.53E-4	0.0	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.79141	-1.24;-1.24	5.33	-5.12	0.02893	von Willebrand factor, type A (2);	0.594872	0.18551	N	0.137910	T	0.50188	0.1601	N	0.04297	-0.235	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.001;0.002	T	0.28364	-1.0046	10	0.33940	T	0.23	-10.7786	11.4355	0.50066	0.244:0.1212:0.6348:0.0	.	457;457	E7ET33;Q06033	.;ITIH3_HUMAN	N	457;445;452;457;457	ENSP00000413922:D457N;ENSP00000415769:D457N	ENSP00000273291:D452N	D	+	1	0	ITIH3	52810188	0.009000	0.17119	0.003000	0.11579	0.479000	0.33129	1.226000	0.32563	-1.147000	0.02851	-0.136000	0.14681	GAT	ITIH3	-	smart_VWF_A,pfscan_VWF_A		0.488	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH3	HGNC	protein_coding	OTTHUMT00000352668.2	G	NM_002217		52835148	+1	no_errors	ENST00000449956	ensembl	human	known	70_37	missense	SNP	0.003	A
ITIH4	3700	genome.wustl.edu	37	3	52860028	52860028	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:52860028A>C	ENST00000266041.4	-	6	729	c.633T>G	c.(631-633)gcT>gcG	p.A211A	ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000346281.5_Silent_p.A211A|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Silent_p.A211A|ITIH4_ENST00000434759.3_Silent_p.A123A|ITIH4_ENST00000485816.1_Silent_p.A211A|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	211					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCGGATGTGAGCCTGGAGGA	0.522																																																	0													113.0	95.0	101.0					3																	52860028		2203	4300	6503	SO:0001819	synonymous_variant	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.633T>G	3.37:g.52860028A>C			B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.A211	ENST00000266041.4	37	c.633	CCDS2865.1	3																																																																																			ITIH4	-	NULL		0.522	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4	HGNC	protein_coding	OTTHUMT00000317715.1	A	NM_002218		52860028	-1	no_errors	ENST00000266041	ensembl	human	known	70_37	silent	SNP	0.998	C
ITGB5	3693	genome.wustl.edu	37	3	124482543	124482543	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:124482543T>G	ENST00000296181.4	-	15	2623	c.2327A>C	c.(2326-2328)aAg>aCg	p.K776T	ITGB5_ENST00000461306.1_5'Flank	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	776					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GGAGATAGGCTTTCTGTATAA	0.507																																																	0													165.0	133.0	144.0					3																	124482543		2203	4300	6503	SO:0001583	missense	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.2327A>C	3.37:g.124482543T>G	ENSP00000296181:p.Lys776Thr		B0LPF8|B2RD70	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,pirsf_Integrin_bsu,prints_Integrin_bsu	p.K776T	ENST00000296181.4	37	c.2327	CCDS3030.1	3	.	.	.	.	.	.	.	.	.	.	T	11.19	1.565880	0.27915	.	.	ENSG00000082781	ENST00000296181	D	0.88586	-2.4	5.92	5.92	0.95590	Integrin beta subunit, cytoplasmic (2);	0.310629	0.36101	N	0.002783	D	0.85331	0.5672	L	0.39898	1.24	0.42558	D	0.993137	P	0.37594	0.601	B	0.37833	0.259	D	0.85251	0.1044	10	0.41790	T	0.15	.	14.9358	0.70954	0.0:0.0:0.0:1.0	.	776	P18084	ITB5_HUMAN	T	776	ENSP00000296181:K776T	ENSP00000296181:K776T	K	-	2	0	ITGB5	125965233	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	6.216000	0.72212	2.263000	0.75096	0.533000	0.62120	AAG	ITGB5	-	pfam_Integrin_bsu_cyt,pirsf_Integrin_bsu,prints_Integrin_bsu		0.507	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3	T	NM_002213		124482543	-1	no_errors	ENST00000296181	ensembl	human	known	70_37	missense	SNP	1.000	G
ITM2C	81618	genome.wustl.edu	37	2	231741620	231741620	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:231741620G>A	ENST00000326427.6	+	4	625	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	ITM2C_ENST00000326407.6_Intron|ITM2C_ENST00000335005.6_Missense_Mutation_p.E120K|ITM2C_ENST00000409704.2_Missense_Mutation_p.E105K|ITM2C_ENST00000492029.1_3'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	167	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTATGTCATCGAACTCAACAC	0.577																																																	0													178.0	160.0	166.0					2																	231741620		2203	4300	6503	SO:0001583	missense	81618			AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"""BRICHOS domain containing"""	6175	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2C"""	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.499G>A	2.37:g.231741620G>A	ENSP00000322730:p.Glu167Lys		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.E167K	ENST00000326427.6	37	c.499	CCDS2479.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.480291	0.96307	.	.	ENSG00000135916	ENST00000457215;ENST00000541852;ENST00000326427;ENST00000335005;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.8	5.8	0.92144	BRICHOS (2);	0.000000	0.85682	D	0.000000	D	0.83926	0.5360	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.982;0.996	D	0.84702	0.0729	10	0.72032	D	0.01	-1.6305	15.5631	0.76266	0.0:0.0:1.0:0.0	.	120;167	Q9NQX7-2;Q9NQX7	.;ITM2C_HUMAN	K	167;105;167;120;105;105;105	ENSP00000390655:E167K;ENSP00000440295:E105K;ENSP00000322730:E167K;ENSP00000335121:E120K;ENSP00000444899:E105K;ENSP00000387242:E105K;ENSP00000403257:E105K	ENSP00000322730:E167K	E	+	1	0	ITM2C	231449864	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.243000	0.72384	2.735000	0.93741	0.655000	0.94253	GAA	ITM2C	-	pfam_BRICHOS_dom,pfscan_BRICHOS_dom		0.577	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITM2C	HGNC	protein_coding	OTTHUMT00000256954.2	G	NM_030926		231741620	+1	no_errors	ENST00000326427	ensembl	human	known	70_37	missense	SNP	0.999	A
ITPK1	3705	genome.wustl.edu	37	14	93534259	93534259	+	Intron	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:93534259A>T	ENST00000267615.6	-	3	294				ITPK1-AS1_ENST00000553639.1_RNA|ITPK1_ENST00000555495.1_Intron|ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000556603.2_Intron			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CAAATTTTTTAAAAAAACCAT	0.294																																																	0													14.0	13.0	14.0					14																	93534259		692	1575	2267	SO:0001627	intron_variant	319085			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.120+8680T>A	14.37:g.93534259A>T			Q9BTL6|Q9H2E7	RNA	SNP	-	NULL	ENST00000267615.6	37	NULL	CCDS9907.1	14																																																																																			ITPK1-AS1	-	-		0.294	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1-AS1	HGNC	protein_coding	OTTHUMT00000412421.2	A	NM_014216		93534259	+1	no_errors	ENST00000553639	ensembl	human	known	70_37	rna	SNP	0.002	T
ITSN2	50618	genome.wustl.edu	37	2	24509100	24509100	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:24509100G>T	ENST00000355123.4	-	16	2287	c.1844C>A	c.(1843-1845)tCt>tAt	p.S615Y	ITSN2_ENST00000361999.3_Missense_Mutation_p.S615Y|ITSN2_ENST00000406921.3_Missense_Mutation_p.S615Y	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	615					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGTTAAAAGAATCCATTTC	0.264																																																	0													76.0	77.0	77.0					2																	24509100		2203	4296	6499	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1844C>A	2.37:g.24509100G>T	ENSP00000347244:p.Ser615Tyr		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.S615Y	ENST00000355123.4	37	c.1844	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560454	0.45590	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.60171	1.42;0.21;1.42;0.65	5.48	5.48	0.80851	.	0.662257	0.11618	U	0.546029	T	0.64571	0.2610	L	0.43152	1.355	0.32128	N	0.587188	D;D;D;P	0.59767	0.986;0.969;0.974;0.956	P;P;P;P	0.54100	0.742;0.742;0.66;0.459	T	0.67703	-0.5602	10	0.59425	D	0.04	.	15.436	0.75146	0.0:0.0:0.8527:0.1473	.	615;615;615;615	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	Y	615	ENSP00000354561:S615Y;ENSP00000347244:S615Y;ENSP00000370250:S615Y;ENSP00000384499:S615Y	ENSP00000347244:S615Y	S	-	2	0	ITSN2	24362604	0.787000	0.28750	1.000000	0.80357	0.959000	0.62525	0.921000	0.28718	2.750000	0.94351	0.467000	0.42956	TCT	ITSN2	-	NULL		0.264	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	G	NM_006277		24509100	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	missense	SNP	1.000	T
IVL	3713	genome.wustl.edu	37	1	152882447	152882447	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:152882447G>T	ENST00000368764.3	+	2	238	c.174G>T	c.(172-174)aaG>aaT	p.K58N	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	58					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCATCAAAGCAAGAGGAAA	0.547																																																	0													84.0	79.0	81.0					1																	152882447		2203	4300	6503	SO:0001583	missense	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.174G>T	1.37:g.152882447G>T	ENSP00000357753:p.Lys58Asn		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.K58N	ENST00000368764.3	37	c.174	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899800	0.33535	.	.	ENSG00000163207	ENST00000368764	T	0.09817	2.94	5.3	0.294	0.15747	Involucrin, N-terminal (1);	.	.	.	.	T	0.03390	0.0098	L	0.55481	1.735	0.09310	N	1	B	0.25850	0.136	B	0.27262	0.078	T	0.41179	-0.9523	9	0.48119	T	0.1	-0.3944	4.3966	0.11365	0.2455:0.3399:0.4146:0.0	.	58	P07476	INVO_HUMAN	N	58	ENSP00000357753:K58N	ENSP00000357753:K58N	K	+	3	2	IVL	151149071	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.419000	0.21247	0.099000	0.17552	0.561000	0.74099	AAG	IVL	-	pfam_Involucrin_N		0.547	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	G	NM_005547		152882447	+1	no_errors	ENST00000368764	ensembl	human	known	70_37	missense	SNP	0.000	T
IWS1	55677	genome.wustl.edu	37	2	128263003	128263003	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:128263003G>T	ENST00000295321.4	-	3	735	c.476C>A	c.(475-477)tCt>tAt	p.S159Y	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.S166Y|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	159	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTCAATCTCAGAATCACTGGC	0.463																																																	0													91.0	97.0	95.0					2																	128263003		2203	4300	6503	SO:0001583	missense	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.476C>A	2.37:g.128263003G>T	ENSP00000295321:p.Ser159Tyr		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N	p.S159Y	ENST00000295321.4	37	c.476	CCDS2146.1	2	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339395	0.60963	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.35048	1.37;1.33	5.4	5.4	0.78164	.	0.205896	0.33854	N	0.004495	T	0.59810	0.2221	M	0.64997	1.995	0.38955	D	0.958425	D	0.76494	0.999	D	0.73380	0.98	T	0.63152	-0.6701	10	0.72032	D	0.01	-3.9751	19.5254	0.95203	0.0:0.0:1.0:0.0	.	159	Q96ST2	IWS1_HUMAN	Y	159;112;166;164	ENSP00000295321:S159Y;ENSP00000399245:S166Y	ENSP00000295321:S159Y	S	-	2	0	IWS1	127979473	1.000000	0.71417	0.879000	0.34478	0.676000	0.39594	5.716000	0.68437	2.676000	0.91093	0.591000	0.81541	TCT	IWS1	-	NULL		0.463	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2	G	NM_017969		128263003	-1	no_errors	ENST00000295321	ensembl	human	known	70_37	missense	SNP	0.962	T
JAG1	182	genome.wustl.edu	37	20	10639163	10639163	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:10639163C>T	ENST00000254958.5	-	4	1162	c.647G>A	c.(646-648)gGc>gAc	p.G216D	JAG1_ENST00000423891.2_Missense_Mutation_p.G57D	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	216	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGTTTTGTTGCCATTCTGGTC	0.498									Alagille Syndrome																																								0													126.0	119.0	122.0					20																	10639163		2203	4300	6503	SO:0001583	missense	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.647G>A	20.37:g.10639163C>T	ENSP00000254958:p.Gly216Asp		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.G216D	ENST00000254958.5	37	c.647	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.232843	0.95207	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.99511	-6.05;-6.05	5.58	5.58	0.84498	Delta/Serrate/lag-2 (DSL) protein (3);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97521	1.0073	10	0.62326	D	0.03	.	19.5701	0.95409	0.0:1.0:0.0:0.0	.	216	P78504	JAG1_HUMAN	D	216;57	ENSP00000254958:G216D;ENSP00000389519:G57D	ENSP00000254958:G216D	G	-	2	0	JAG1	10587163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.629000	0.89072	0.563000	0.77884	GGC	JAG1	-	pfam_DSL,smart_DSL,pfscan_DSL		0.498	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		C	NM_000214		10639163	-1	no_errors	ENST00000254958	ensembl	human	known	70_37	missense	SNP	1.000	T
JAK2	3717	genome.wustl.edu	37	9	5050791	5050791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:5050791G>T	ENST00000381652.3	+	6	1068	c.574G>T	c.(574-576)Gaa>Taa	p.E192*	JAK2_ENST00000544510.1_Nonsense_Mutation_p.E43*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.E192*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	192	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|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)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AATAGCCAAAGAAAACGATCA	0.373		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													149.0	153.0	152.0					9																	5050791		2203	4300	6503	SO:0001587	stop_gained	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.574G>T	9.37:g.5050791G>T	ENSP00000371067:p.Glu192*		O14636|O75297	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E192*	ENST00000381652.3	37	c.574	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.647766	0.98409	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-11.8401	18.2288	0.89927	0.0:0.0:1.0:0.0	.	.	.	.	X	192;192;43	.	ENSP00000371067:E192X	E	+	1	0	JAK2	5040791	1.000000	0.71417	0.994000	0.49952	0.889000	0.51656	9.379000	0.97198	2.301000	0.77427	0.462000	0.41574	GAA	JAK2	-	superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain		0.373	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	G			5050791	+1	no_errors	ENST00000381652	ensembl	human	known	70_37	nonsense	SNP	1.000	T
JAK2	3717	genome.wustl.edu	37	9	5090886	5090886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:5090886G>T	ENST00000381652.3	+	22	3528	c.3034G>T	c.(3034-3036)Gaa>Taa	p.E1012*	JAK2_ENST00000544510.1_Nonsense_Mutation_p.E863*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.E1012*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1012	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|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)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TAAAGTAAAAGAACCTGGTGA	0.313		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													78.0	87.0	84.0					9																	5090886		2203	4300	6503	SO:0001587	stop_gained	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3034G>T	9.37:g.5090886G>T	ENSP00000371067:p.Glu1012*		O14636|O75297	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1012*	ENST00000381652.3	37	c.3034	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	G	44	11.132099	0.99520	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.0502	19.7971	0.96490	0.0:0.0:1.0:0.0	.	.	.	.	X	1012;1012;863	.	ENSP00000371067:E1012X	E	+	1	0	JAK2	5080886	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.324000	0.96373	2.757000	0.94681	0.585000	0.79938	GAA	JAK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.313	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	G			5090886	+1	no_errors	ENST00000381652	ensembl	human	known	70_37	nonsense	SNP	1.000	T
JARID2	3720	genome.wustl.edu	37	6	15511553	15511553	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:15511553A>G	ENST00000341776.2	+	13	3117	c.2873A>G	c.(2872-2874)aAc>aGc	p.N958S	JARID2_ENST00000397311.3_Missense_Mutation_p.N786S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	958	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAGGAGGAGAACAAGCTGGAA	0.577																																																	0													126.0	109.0	114.0					6																	15511553		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2873A>G	6.37:g.15511553A>G	ENSP00000341280:p.Asn958Ser		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.N958S	ENST00000341776.2	37	c.2873	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	A	5.549	0.286215	0.10513	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	T;T	0.70045	-0.45;-0.45	5.09	-1.95	0.07548	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.515343	0.24361	N	0.039196	T	0.11281	0.0275	N	0.02539	-0.55	0.31313	N	0.686939	B	0.02656	0.0	B	0.04013	0.001	T	0.17837	-1.0356	10	0.09084	T	0.74	-3.6707	6.3244	0.21234	0.519:0.1298:0.3513:0.0	.	958	Q92833	JARD2_HUMAN	S	958;786	ENSP00000341280:N958S;ENSP00000380478:N786S	ENSP00000341280:N958S	N	+	2	0	JARID2	15619532	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	1.256000	0.32921	-0.507000	0.06549	-0.297000	0.09499	AAC	JARID2	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.577	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	A	NM_004973		15511553	+1	no_errors	ENST00000341776	ensembl	human	known	70_37	missense	SNP	0.983	G
JARID2	3720	genome.wustl.edu	37	6	15517424	15517424	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:15517424T>C	ENST00000341776.2	+	17	3727	c.3483T>C	c.(3481-3483)tgT>tgC	p.C1161C	JARID2_ENST00000397311.3_Silent_p.C989C	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1161					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCGTGTTCTGTCTGGAGTGTG	0.597																																																	0													179.0	143.0	155.0					6																	15517424		2203	4300	6503	SO:0001819	synonymous_variant	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3483T>C	6.37:g.15517424T>C			A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.C1161	ENST00000341776.2	37	c.3483	CCDS4533.1	6																																																																																			JARID2	-	pfam_Znf_C5HC2		0.597	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	T	NM_004973		15517424	+1	no_errors	ENST00000341776	ensembl	human	known	70_37	silent	SNP	1.000	C
KCNA1	3736	genome.wustl.edu	37	12	5027214	5027214	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:5027214G>T	ENST00000382545.3	+	0	7777				KCNA1_ENST00000543874.2_3'UTR	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)						potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TCCACCTTGAGTTAAGGACGT	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.*5182G>T	12.37:g.5027214G>T			A6NM83|Q3MIQ9	RNA	SNP	-	NULL	ENST00000382545.3	37	NULL	CCDS8535.1	12																																																																																			KCNA1	-	-		0.378	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	G	NM_000217		5027214	+1	no_errors	ENST00000543874	ensembl	human	known	70_37	rna	SNP	1.000	T
KANSL2	54934	genome.wustl.edu	37	12	49075215	49075215	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:49075215C>A	ENST00000420613.2	-	2	248	c.201G>T	c.(199-201)aaG>aaT	p.K67N	KANSL2_ENST00000550347.1_Missense_Mutation_p.K250N|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000553086.1_Missense_Mutation_p.K67N	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	67					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											TTTTTCCATTCTTCGTCGATA	0.428																																																	0													148.0	141.0	143.0					12																	49075215		1892	4124	6016	SO:0001583	missense	54934			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.201G>T	12.37:g.49075215C>A	ENSP00000415436:p.Lys67Asn		Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	NULL	p.K67N	ENST00000420613.2	37	c.201	CCDS44869.1	12	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457669	0.43634	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550870;ENST00000548304	T;T;T;T;T	0.48836	0.87;0.87;0.87;0.87;0.8	5.59	3.75	0.43078	.	.	.	.	.	T	0.35998	0.0951	L	0.42686	1.345	0.80722	D	1	B;B	0.31931	0.347;0.1	B;B	0.26416	0.069;0.066	T	0.08330	-1.0727	9	0.30854	T	0.27	-23.3843	10.3686	0.44039	0.0:0.7899:0.1357:0.0745	.	250;67	F8VX10;Q9H9L4	.;CL041_HUMAN	N	250;67;67;67;67	ENSP00000449747:K250N;ENSP00000415436:K67N;ENSP00000448833:K67N;ENSP00000448473:K67N;ENSP00000446493:K67N	ENSP00000415436:K67N	K	-	3	2	C12orf41	47361482	1.000000	0.71417	0.980000	0.43619	0.938000	0.57974	2.438000	0.44837	0.715000	0.32103	-0.373000	0.07131	AAG	KANSL2	-	NULL		0.428	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL2	HGNC	protein_coding	OTTHUMT00000408841.1	C	NM_017822		49075215	-1	no_errors	ENST00000420613	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNA10	3744	genome.wustl.edu	37	1	111060775	111060775	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:111060775G>A	ENST00000369771.2	-	1	1022	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	212					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.S212F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GGCAGCGCTGGAACTTTCAGG	0.557																																																	1	Substitution - Missense(1)	skin(1)											104.0	105.0	105.0					1																	111060775		2203	4300	6503	SO:0001583	missense	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.635C>T	1.37:g.111060775G>A	ENSP00000358786:p.Ser212Phe			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,prints_K_chnl_volt-dep_Kv	p.S212F	ENST00000369771.2	37	c.635	CCDS826.1	1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439385	0.43326	.	.	ENSG00000143105	ENST00000369771	T	0.68181	-0.31	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.83184	0.5199	H	0.94847	3.59	0.80722	D	1	D	0.69078	0.997	P	0.57620	0.824	D	0.87338	0.2329	10	0.87932	D	0	.	18.895	0.92420	0.0:0.0:1.0:0.0	.	212	Q16322	KCA10_HUMAN	F	212	ENSP00000358786:S212F	ENSP00000358786:S212F	S	-	2	0	KCNA10	110862298	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	TCC	KCNA10	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv1		0.557	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA10	HGNC	protein_coding	OTTHUMT00000059081.1	G	NM_005549		111060775	-1	no_errors	ENST00000369771	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNA4	3739	genome.wustl.edu	37	11	30032823	30032823	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:30032823C>A	ENST00000328224.6	-	2	2636	c.1403G>T	c.(1402-1404)gGc>gTc	p.G468V	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	468					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GAGGGTGTGGCCCAGGATCTG	0.537																																																	0													54.0	57.0	56.0					11																	30032823		2089	4247	6336	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1403G>T	11.37:g.30032823C>A	ENSP00000328511:p.Gly468Val			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G468V	ENST00000328224.6	37	c.1403	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741212	0.69304	.	.	ENSG00000182255	ENST00000328224	D	0.98419	-4.92	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99007	0.9661	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.99831	1.1054	10	0.87932	D	0	.	19.563	0.95380	0.0:1.0:0.0:0.0	.	468	P22459	KCNA4_HUMAN	V	468	ENSP00000328511:G468V	ENSP00000328511:G468V	G	-	2	0	KCNA4	29989399	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.619000	0.88677	0.650000	0.86243	GGC	KCNA4	-	pfam_Ion_trans_dom,prints_K_chnl		0.537	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	C	NM_002233		30032823	-1	no_errors	ENST00000328224	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNA4	3739	genome.wustl.edu	37	11	30034018	30034018	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:30034018C>T	ENST00000328224.6	-	2	1441	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	70					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GAGGTACAGGCCCCGCGTGAC	0.662																																																	0													39.0	41.0	40.0					11																	30034018		1963	4141	6104	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.208G>A	11.37:g.30034018C>T	ENSP00000328511:p.Ala70Thr			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.A70T	ENST00000328224.6	37	c.208	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529385	0.27387	.	.	ENSG00000182255	ENST00000328224	D	0.97279	-4.32	4.75	-0.486	0.12064	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	32.803700	0.00166	N	0.000000	D	0.91459	0.7304	N	0.14661	0.345	0.40374	D	0.979373	B	0.06786	0.001	B	0.10450	0.005	T	0.81924	-0.0710	10	0.21014	T	0.42	.	3.1496	0.06483	0.1229:0.5552:0.1197:0.2021	.	70	P22459	KCNA4_HUMAN	T	70	ENSP00000328511:A70T	ENSP00000328511:A70T	A	-	1	0	KCNA4	29990594	0.998000	0.40836	0.503000	0.27626	0.574000	0.36063	2.355000	0.44107	0.093000	0.17368	0.491000	0.48974	GCC	KCNA4	-	pfam_K_chnl_volt-dep_Kv1.4_TID		0.662	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	C	NM_002233		30034018	-1	no_errors	ENST00000328224	ensembl	human	known	70_37	missense	SNP	0.992	T
KCNA5	3741	genome.wustl.edu	37	12	5153773	5153773	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:5153773C>T	ENST00000252321.3	+	1	689	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	154				R -> P (in Ref. 1; AAA61276 and 2; AAA36422). {ECO:0000305}.	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)	CAAGCGCCTGCGCTACTTCGA	0.657																																																	0													33.0	36.0	35.0					12																	5153773		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.460C>T	12.37:g.5153773C>T	ENSP00000252321:p.Arg154Cys		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.R154C	ENST00000252321.3	37	c.460	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898088	0.52227	.	.	ENSG00000130037	ENST00000252321	T	0.77358	-1.09	4.7	4.7	0.59300	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.273419	0.26089	U	0.026410	D	0.86171	0.5869	M	0.82056	2.57	0.46798	D	0.999201	D	0.71674	0.998	D	0.63381	0.914	D	0.87759	0.2597	10	0.87932	D	0	.	11.9857	0.53147	0.1728:0.8271:0.0:0.0	.	154	P22460	KCNA5_HUMAN	C	154	ENSP00000252321:R154C	ENSP00000252321:R154C	R	+	1	0	KCNA5	5024034	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.924000	0.40065	2.443000	0.82685	0.511000	0.50034	CGC	KCNA5	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1		0.657	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	C	NM_002234		5153773	+1	no_errors	ENST00000252321	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNC2	3747	genome.wustl.edu	37	12	75601247	75601247	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:75601247C>T	ENST00000549446.1	-	2	1197	c.517G>A	c.(517-519)Gac>Aac	p.D173N	KCNC2_ENST00000393288.2_Missense_Mutation_p.D173N|KCNC2_ENST00000298972.1_Missense_Mutation_p.D173N|KCNC2_ENST00000550433.1_Missense_Mutation_p.D173N|KCNC2_ENST00000341669.3_Missense_Mutation_p.D173N|KCNC2_ENST00000548513.1_Missense_Mutation_p.D173N|KCNC2_ENST00000350228.2_Missense_Mutation_p.D173N|KCNC2_ENST00000540018.1_Missense_Mutation_p.D173N	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	173					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CCAATGAGGTCGGGGGTCTCG	0.711																																																	0													21.0	23.0	23.0					12																	75601247		2203	4299	6502	SO:0001583	missense	3747			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.517G>A	12.37:g.75601247C>T	ENSP00000449253:p.Asp173Asn		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.D173N	ENST00000549446.1	37	c.517	CCDS9007.1	12	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849734	0.71603	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97529	-4.42;-4.42;-4.41;-4.42;-4.42;-4.41;-4.41;-4.42	3.97	3.97	0.46021	.	.	.	.	.	D	0.95541	0.8551	L	0.58510	1.815	0.58432	D	0.999998	D;B;B;B;P	0.56035	0.974;0.011;0.067;0.019;0.792	B;B;B;B;B	0.41764	0.366;0.008;0.008;0.02;0.181	D	0.95912	0.8924	9	0.56958	D	0.05	.	16.5684	0.84604	0.0:1.0:0.0:0.0	.	173;173;173;173;173	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	N	173	ENSP00000448301:D173N;ENSP00000449941:D173N;ENSP00000449253:D173N;ENSP00000340121:D173N;ENSP00000298972:D173N;ENSP00000319877:D173N;ENSP00000438423:D173N;ENSP00000376966:D173N	ENSP00000298972:D173N	D	-	1	0	KCNC2	73887514	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.199000	0.65152	2.191000	0.70037	0.563000	0.77884	GAC	KCNC2	-	NULL		0.711	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNC2	HGNC	protein_coding	OTTHUMT00000405581.2	C	NM_153748		75601247	-1	no_errors	ENST00000549446	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNG1	3755	genome.wustl.edu	37	20	49620923	49620923	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:49620923C>T	ENST00000371571.4	-	3	1480	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	399					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATCTCGTTCTCGATGACGTAG	0.667																																																	0													42.0	41.0	41.0					20																	49620923		2203	4300	6503	SO:0001583	missense	3755			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1195G>A	20.37:g.49620923C>T	ENSP00000360626:p.Glu399Lys		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.E399K	ENST00000371571.4	37	c.1195	CCDS13436.1	20	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764343	0.89932	.	.	ENSG00000026559	ENST00000371571	D	0.98717	-5.09	5.49	5.49	0.81192	Ion transport (1);	0.045124	0.85682	D	0.000000	D	0.99521	0.9829	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98052	1.0388	9	.	.	.	.	19.3567	0.94418	0.0:1.0:0.0:0.0	.	399	Q9UIX4	KCNG1_HUMAN	K	399	ENSP00000360626:E399K	.	E	-	1	0	KCNG1	49054330	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	7.773000	0.85462	2.578000	0.87016	0.462000	0.41574	GAG	KCNG1	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.667	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	C	NM_002237		49620923	-1	no_errors	ENST00000371571	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNH4	23415	genome.wustl.edu	37	17	40330366	40330366	+	Missense_Mutation	SNP	C	C	T	rs140956512		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:40330366C>T	ENST00000264661.3	-	3	772	c.440G>A	c.(439-441)cGc>cAc	p.R147H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R147H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	147					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACTGTCCCCGCGGCCTCCTTG	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18612	0.0		0.0	False		,,,				2504	0.0				NSCLC(117;707 1703 2300 21308 31858)												0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	48.0	42.0	44.0		440	1.3	0.2	17	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNH4	NM_012285.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	147/1018	40330366	2,13004	2203	4300	6503	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.440G>A	17.37:g.40330366C>T	ENSP00000264661:p.Arg147His			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R147H	ENST00000264661.3	37	c.440	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	C	0.654	-0.808268	0.02819	2.27E-4	1.16E-4	ENSG00000089558	ENST00000264661	D	0.98666	-5.06	4.99	1.31	0.21738	.	0.219067	0.23123	N	0.051661	D	0.89476	0.6726	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.85567	0.1231	10	0.31617	T	0.26	.	4.0612	0.09839	0.0:0.1892:0.1781:0.6327	.	147	Q9UQ05	KCNH4_HUMAN	H	147	ENSP00000264661:R147H	ENSP00000264661:R147H	R	-	2	0	KCNH4	37583892	0.000000	0.05858	0.162000	0.22713	0.024000	0.10985	-0.116000	0.10724	0.058000	0.16222	-1.559000	0.00887	CGC	KCNH4	-	NULL		0.567	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	C	NM_012285		40330366	-1	no_errors	ENST00000264661	ensembl	human	known	70_37	missense	SNP	0.029	T
KCNJ16	3773	genome.wustl.edu	37	17	68128346	68128346	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:68128346G>T	ENST00000589377.1	+	2	281	c.118G>T	c.(118-120)Gat>Tat	p.D40Y	KCNJ16_ENST00000585558.1_Missense_Mutation_p.D75Y|KCNJ16_ENST00000392671.1_Missense_Mutation_p.D40Y|KCNJ16_ENST00000392670.1_Missense_Mutation_p.D40Y|KCNJ16_ENST00000283936.1_Missense_Mutation_p.D40Y|KCNJ16_ENST00000586462.1_Missense_Mutation_p.D79Y	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	40					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACTTCACAAAGATGGCAGCTG	0.453																																																	0													213.0	194.0	200.0					17																	68128346		2203	4300	6503	SO:0001583	missense	3773			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.118G>T	17.37:g.68128346G>T	ENSP00000465967:p.Asp40Tyr			Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir	p.D40Y	ENST00000589377.1	37	c.118	CCDS11687.1	17	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790813	0.70452	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.94723	-3.5;-3.5;-3.5	5.99	5.99	0.97316	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.051094	0.85682	D	0.000000	D	0.97383	0.9144	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.96785	0.9578	9	.	.	.	.	20.0585	0.97663	0.0:0.0:1.0:0.0	.	40;40	A8K434;Q9NPI9	.;IRK16_HUMAN	Y	40	ENSP00000283936:D40Y;ENSP00000376439:D40Y;ENSP00000376438:D40Y	.	D	+	1	0	KCNJ16	65639941	1.000000	0.71417	0.940000	0.37924	0.401000	0.30781	7.964000	0.87933	2.831000	0.97527	0.650000	0.86243	GAT	KCNJ16	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5		0.453	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ16	HGNC	protein_coding	OTTHUMT00000450880.1	G	NM_018658		68128346	+1	no_errors	ENST00000283936	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNJ2	3759	genome.wustl.edu	37	17	68172113	68172113	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:68172113C>T	ENST00000243457.3	+	2	1316	c.933C>T	c.(931-933)tgC>tgT	p.C311C	KCNJ2_ENST00000535240.1_Silent_p.C311C	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	311					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)					CGACACAGTGCCGTAGCTCTT	0.468																																																	0													61.0	63.0	63.0					17																	68172113		2203	4300	6503	SO:0001819	synonymous_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.933C>T	17.37:g.68172113C>T			O15110|P48049	Silent	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1	p.C311	ENST00000243457.3	37	c.933	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		0.468	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	C	NM_000891		68172113	+1	no_errors	ENST00000243457	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNK10	54207	genome.wustl.edu	37	14	88652276	88652276	+	Missense_Mutation	SNP	C	C	T	rs144714447		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:88652276C>T	ENST00000340700.5	-	7	1671	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KCNK10_ENST00000312350.5_Missense_Mutation_p.R412H|KCNK10_ENST00000319231.5_Missense_Mutation_p.R412H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	407					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCCTTGAAGCGGCCGGTGTC	0.667																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	61.0	60.0		1220,1235,1235	4.8	1.0	14	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	407/539,412/544,412/544	88652276	1,13005	2203	4300	6503	SO:0001583	missense	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1220G>A	14.37:g.88652276C>T	ENSP00000343104:p.Arg407His		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.R412H	ENST00000340700.5	37	c.1235	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655498	0.47467	2.27E-4	0.0	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.91945	-2.93;-2.94;-2.94	5.71	4.82	0.62117	.	0.156145	0.53938	N	0.000041	D	0.87815	0.6272	L	0.43152	1.355	0.45747	D	0.998646	B;B;B	0.15473	0.002;0.013;0.004	B;B;B	0.10450	0.001;0.005;0.002	T	0.82837	-0.0260	10	0.17369	T	0.5	.	13.9924	0.64374	0.0:0.9275:0.0:0.0725	.	407;412;412	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	H	407;412;412	ENSP00000343104:R407H;ENSP00000310568:R412H;ENSP00000312811:R412H	ENSP00000310568:R412H	R	-	2	0	KCNK10	87722029	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.954000	0.49113	1.428000	0.47296	0.655000	0.94253	CGC	KCNK10	-	NULL		0.667	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	HGNC	protein_coding	OTTHUMT00000410167.1	C	NM_021161		88652276	-1	no_errors	ENST00000312350	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNK10	54207	genome.wustl.edu	37	14	88729708	88729708	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:88729708G>T	ENST00000340700.5	-	2	676	c.225C>A	c.(223-225)atC>atA	p.I75I	KCNK10_ENST00000312350.5_Silent_p.I80I|KCNK10_ENST00000319231.5_Silent_p.I80I	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	75					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CAACCACAAAGATGGCAACCA	0.572																																																	0													118.0	99.0	105.0					14																	88729708		2203	4300	6503	SO:0001819	synonymous_variant	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.225C>A	14.37:g.88729708G>T			B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.I80	ENST00000340700.5	37	c.240	CCDS9880.1	14																																																																																			KCNK10	-	prints_2pore_dom_K_chnl_TASK		0.572	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	HGNC	protein_coding	OTTHUMT00000410167.1	G	NM_021161		88729708	-1	no_errors	ENST00000312350	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNK5	8645	genome.wustl.edu	37	6	39158729	39158729	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:39158729G>T	ENST00000359534.3	-	5	1775	c.1437C>A	c.(1435-1437)ctC>ctA	p.L479L		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	479					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AAGGCACAGAGAGCTCAGACT	0.617																																																	0													66.0	46.0	53.0					6																	39158729		2200	4299	6499	SO:0001819	synonymous_variant	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.1437C>A	6.37:g.39158729G>T			B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.L479	ENST00000359534.3	37	c.1437	CCDS4841.1	6																																																																																			KCNK5	-	NULL		0.617	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	G	NM_003740		39158729	-1	no_errors	ENST00000359534	ensembl	human	known	70_37	silent	SNP	0.825	T
KCNK16	83795	genome.wustl.edu	37	6	39290160	39290160	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:39290160G>A	ENST00000373229.5	-	1	170	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	KCNK16_ENST00000425054.2_Missense_Mutation_p.R53C|KCNK16_ENST00000373227.4_Missense_Mutation_p.R53C|KCNK16_ENST00000507712.1_5'UTR|KCNK16_ENST00000437525.2_Missense_Mutation_p.R53C	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	53					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TCCAGGAAGCGCAGCTTCTCC	0.592																																																	0													73.0	64.0	67.0					6																	39290160		2203	4300	6503	SO:0001583	missense	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.157C>T	6.37:g.39290160G>A	ENSP00000362326:p.Arg53Cys		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.R53C	ENST00000373229.5	37	c.157	CCDS4843.1	6	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562337	0.65538	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000373227;ENST00000437525	T;T;T;T	0.19394	2.41;2.39;3.01;2.15	5.81	4.93	0.64822	.	0.351430	0.29609	N	0.011676	T	0.31136	0.0787	M	0.78801	2.425	0.43936	D	0.996598	D;D;D;D	0.89917	0.999;0.987;1.0;0.993	P;P;P;P	0.62184	0.642;0.827;0.899;0.786	T	0.19582	-1.0301	10	0.72032	D	0.01	.	9.8723	0.41182	0.0731:0.0:0.757:0.1699	.	53;53;53;53	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	C	53	ENSP00000362326:R53C;ENSP00000391498:R53C;ENSP00000362324:R53C;ENSP00000415375:R53C	ENSP00000362324:R53C	R	-	1	0	KCNK16	39398138	0.995000	0.38212	1.000000	0.80357	0.962000	0.63368	1.247000	0.32815	1.427000	0.47276	0.655000	0.94253	CGC	KCNK16	-	NULL		0.592	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	G	NM_032115		39290160	-1	no_errors	ENST00000425054	ensembl	human	known	70_37	missense	SNP	0.999	A
KCNN2	3781	genome.wustl.edu	37	5	113740463	113740463	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:113740463C>A	ENST00000512097.3	+	4	1929	c.911C>A	c.(910-912)aCt>aAt	p.T304N	KCNN2_ENST00000264773.3_Missense_Mutation_p.T304N|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	304					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GTTATGAAGACTTTAATGACT	0.373																																																	0													139.0	137.0	138.0					5																	113740463		2202	4300	6502	SO:0001583	missense	3781			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.911C>A	5.37:g.113740463C>A	ENSP00000427120:p.Thr304Asn		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.T304N	ENST00000512097.3	37	c.911	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498021	0.85069	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98996	-5.31;-5.31	5.42	5.42	0.78866	.	0.094329	0.64402	D	0.000001	D	0.99390	0.9785	M	0.89840	3.065	0.80722	D	1	D	0.57899	0.981	D	0.65773	0.938	D	0.98874	1.0767	10	0.87932	D	0	-3.5856	18.8255	0.92117	0.0:1.0:0.0:0.0	.	304	Q9H2S1	KCNN2_HUMAN	N	304	ENSP00000427120:T304N;ENSP00000264773:T304N	ENSP00000264773:T304N	T	+	2	0	KCNN2	113768362	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.723000	0.84788	2.545000	0.85829	0.491000	0.48974	ACT	KCNN2	-	NULL		0.373	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2	C	NM_021614		113740463	+1	no_errors	ENST00000264773	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNQ2	3785	genome.wustl.edu	37	20	62071029	62071029	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:62071029C>A	ENST00000359125.2	-	6	1023	c.849G>T	c.(847-849)aaG>aaT	p.K283N	KCNQ2_ENST00000357249.2_Missense_Mutation_p.K283N|KCNQ2_ENST00000354587.3_Missense_Mutation_p.K283N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.K283N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.K283N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.K283N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.K283N|KCNQ2_ENST00000344425.5_Missense_Mutation_p.K283N	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	283					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTGGGGGTACTTGTCCCCGT	0.642																																																	0													208.0	152.0	171.0					20																	62071029		2203	4300	6503	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.849G>T	20.37:g.62071029C>A	ENSP00000352035:p.Lys283Asn		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.K283N	ENST00000359125.2	37	c.849	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688716	0.68271	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	4.01	4.01	0.46588	Ion transport (1);	0.129992	0.50627	D	0.000119	D	0.98362	0.9456	M	0.89095	3.005	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.991;0.999;0.999;0.999;0.999	D	0.98897	1.0775	10	0.87932	D	0	-9.5214	11.201	0.48741	0.0:0.9083:0.0:0.0917	.	283;283;283;283;283;283	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	N	283	ENSP00000349789:K283N;ENSP00000352035:K283N;ENSP00000359246:K283N;ENSP00000346601:K283N;ENSP00000352718:K283N;ENSP00000399612:K283N;ENSP00000353668:K283N;ENSP00000339611:K283N;ENSP00000359244:K283N;ENSP00000359242:K283N;ENSP00000359241:K283N;ENSP00000345523:K283N	ENSP00000345523:K283N	K	-	3	2	KCNQ2	61541473	0.999000	0.42202	1.000000	0.80357	0.839000	0.47603	0.684000	0.25364	1.908000	0.55244	0.561000	0.74099	AAG	KCNQ2	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	C	NM_172109		62071029	-1	no_errors	ENST00000354587	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNQ5	56479	genome.wustl.edu	37	6	73751728	73751728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:73751728C>T	ENST00000370398.1	+	3	668	c.559C>T	c.(559-561)Cga>Tga	p.R187*	KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000414165.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000342056.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000370392.1_Nonsense_Mutation_p.R187*	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	187					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.R187*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTGCTGTTGTCGATATAGAGG	0.428																																					GBM(142;1375 1859 14391 23261 44706)												1	Substitution - Nonsense(1)	large_intestine(1)											352.0	319.0	330.0					6																	73751728		2203	4300	6503	SO:0001587	stop_gained	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.559C>T	6.37:g.73751728C>T	ENSP00000359425:p.Arg187*		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Nonsense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R187*	ENST00000370398.1	37	c.559	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.547912	0.98352	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165;ENST00000443915;ENST00000441538	.	.	.	6.17	6.17	0.99709	.	0.064316	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	187;187;187;187;187;187;187;187;187;25;24	.	ENSP00000345055:R187X	R	+	1	2	KCNQ5	73808449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.762000	0.68809	2.941000	0.99782	0.655000	0.94253	CGA	KCNQ5	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ		0.428	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	C	NM_019842		73751728	+1	no_errors	ENST00000402622	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KCNS1	3787	genome.wustl.edu	37	20	43726587	43726587	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:43726587C>T	ENST00000306117.1	-	4	1222	c.826G>A	c.(826-828)Gag>Aag	p.E276K	KCNS1_ENST00000537075.1_Missense_Mutation_p.E276K	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	276					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CAGAAGTACTCGAGGCGTCGC	0.716																																																	0													22.0	20.0	21.0					20																	43726587		2187	4282	6469	SO:0001583	missense	3787			AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.826G>A	20.37:g.43726587C>T	ENSP00000307694:p.Glu276Lys		A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6	p.E276K	ENST00000306117.1	37	c.826	CCDS13342.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.536300	0.96460	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.97976	-4.64;-4.64	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99168	0.9712	H	0.95328	3.655	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.99177	1.0866	10	0.87932	D	0	.	18.5456	0.91045	0.0:1.0:0.0:0.0	.	276	Q96KK3	KCNS1_HUMAN	K	276	ENSP00000307694:E276K;ENSP00000445595:E276K	ENSP00000307694:E276K	E	-	1	0	KCNS1	43160001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.441000	0.80485	2.383000	0.81215	0.561000	0.74099	GAG	KCNS1	-	pfam_Ion_trans_dom,prints_K_chnl		0.716	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS1	HGNC	protein_coding	OTTHUMT00000080507.3	C	NM_002251		43726587	-1	no_errors	ENST00000306117	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNT1	57582	genome.wustl.edu	37	9	138657518	138657518	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:138657518C>T	ENST00000263604.3	+	13	1192	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	KCNT1_ENST00000490355.2_Missense_Mutation_p.R398C|KCNT1_ENST00000491806.2_Missense_Mutation_p.R384C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R398C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R372C|KCNT1_ENST00000298480.5_Missense_Mutation_p.R417C|KCNT1_ENST00000371757.2_Missense_Mutation_p.R417C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R378C			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	398					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGTCCAGGTGCGCAGAGTCCT	0.642																																																	0													49.0	44.0	46.0					9																	138657518		2198	4299	6497	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1192C>T	9.37:g.138657518C>T	ENSP00000263604:p.Arg398Cys		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.R417C	ENST00000263604.3	37	c.1249		9	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455307	0.63401	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	4.61	4.61	0.57282	NAD(P)-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.81173	0.4767	M	0.73598	2.24	0.80722	D	1	D;P;D;P	0.89917	0.999;0.954;1.0;0.954	D;P;D;B	0.74023	0.937;0.636;0.982;0.417	D	0.84297	0.0503	10	0.87932	D	0	-32.6248	16.409	0.83701	0.0:1.0:0.0:0.0	.	384;417;372;398	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	C	372;417;417;378;384;398;398;398	ENSP00000417851:R372C;ENSP00000298480:R417C;ENSP00000360822:R417C;ENSP00000263604:R398C	ENSP00000263604:R398C	R	+	1	0	KCNT1	137797339	0.988000	0.35896	0.987000	0.45799	0.538000	0.34931	2.822000	0.48073	2.116000	0.64780	0.313000	0.20887	CGC	KCNT1	-	NULL		0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		C	NM_020822		138657518	+1	no_errors	ENST00000298480	ensembl	human	known	70_37	missense	SNP	0.998	T
KCTD16	57528	genome.wustl.edu	37	5	143586723	143586723	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:143586723G>T	ENST00000507359.3	+	2	1537	c.446G>T	c.(445-447)aGa>aTa	p.R149I	KCTD16_ENST00000512467.1_Missense_Mutation_p.R149I	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	149					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGCGACACAAGAATCTGCCCC	0.552																																																	0													87.0	93.0	91.0					5																	143586723		2203	4300	6503	SO:0001583	missense	57528			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.446G>T	5.37:g.143586723G>T	ENSP00000426548:p.Arg149Ile		Q9P2M9	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.R149I	ENST00000507359.3	37	c.446	CCDS34260.1	5	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753275	0.69648	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.46063	0.88;0.88	5.75	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.61053	-0.7140	10	0.38643	T	0.18	.	15.9966	0.80256	0.0:0.0:0.8643:0.1357	.	149	Q68DU8	KCD16_HUMAN	I	149	ENSP00000424151:R149I;ENSP00000426548:R149I	ENSP00000426548:R149I	R	+	2	0	KCTD16	143566916	1.000000	0.71417	0.997000	0.53966	0.884000	0.51177	7.817000	0.86213	1.389000	0.46526	0.561000	0.74099	AGA	KCTD16	-	NULL		0.552	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD16	HGNC	protein_coding	OTTHUMT00000371898.3	G	XM_098368		143586723	+1	no_errors	ENST00000507359	ensembl	human	known	70_37	missense	SNP	1.000	T
KCTD18	130535	genome.wustl.edu	37	2	201362513	201362513	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:201362513C>A	ENST00000359878.3	-	5	1134	c.624G>T	c.(622-624)aaG>aaT	p.K208N	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Missense_Mutation_p.K208N	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	208					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCATCATTTTCTTCAACTCTG	0.348																																																	0													186.0	185.0	185.0					2																	201362513		2203	4300	6503	SO:0001583	missense	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.624G>T	2.37:g.201362513C>A	ENSP00000352941:p.Lys208Asn		Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.K208N	ENST00000359878.3	37	c.624	CCDS2330.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312814	0.81358	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	D;D	0.97352	-4.35;-4.35	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000003	D	0.96516	0.8863	L	0.32530	0.975	0.38623	D	0.951191	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.95672	0.8724	10	0.87932	D	0	-27.8394	6.8464	0.23990	0.0:0.7971:0.0:0.2029	.	208;208	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	N	208	ENSP00000352941:K208N;ENSP00000386751:K208N	ENSP00000352941:K208N	K	-	3	2	KCTD18	201070758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.045000	0.49838	2.780000	0.95670	0.655000	0.94253	AAG	KCTD18	-	NULL		0.348	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD18	HGNC	protein_coding	OTTHUMT00000256188.1	C	NM_152387		201362513	-1	no_errors	ENST00000359878	ensembl	human	known	70_37	missense	SNP	1.000	A
KCTD7	154881	genome.wustl.edu	37	7	66098334	66098334	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:66098334G>A	ENST00000275532.3	+	2	401	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	KCTD7_ENST00000443322.1_Missense_Mutation_p.E73K	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	73	BTB.				cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCGGTGCTACGAAGACACCAT	0.567																																																	0													129.0	95.0	107.0					7																	66098334		2203	4300	6503	SO:0001583	missense	154881			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.217G>A	7.37:g.66098334G>A	ENSP00000275532:p.Glu73Lys		A4D2M4|Q8IVR0	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E73K	ENST00000275532.3	37	c.217	CCDS5534.1	7	.	.	.	.	.	.	.	.	.	.	g	22.1	4.242304	0.79912	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.41065	1.01;1.01	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	T	0.42698	0.1214	L	0.31578	0.945	0.80722	D	1	P	0.39116	0.66	P	0.45681	0.49	T	0.45469	-0.9259	9	0.66056	D	0.02	.	17.2579	0.87062	0.0:0.0:1.0:0.0	.	73	Q96MP8	KCTD7_HUMAN	K	73	ENSP00000275532:E73K;ENSP00000411624:E73K	ENSP00000275532:E73K	E	+	1	0	KCTD7	65735769	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.227000	0.95236	2.375000	0.81037	0.462000	0.41574	GAA	KCTD7	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.567	KCTD7-001	KNOWN	basic|CCDS	protein_coding	KCTD7	HGNC	protein_coding	OTTHUMT00000251733.2	G	NM_153033		66098334	+1	no_errors	ENST00000275532	ensembl	human	known	70_37	missense	SNP	1.000	A
KERA	11081	genome.wustl.edu	37	12	91449677	91449677	+	Missense_Mutation	SNP	G	G	T	rs554112369		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:91449677G>T	ENST00000266719.3	-	2	629	c.382C>A	c.(382-384)Ctg>Atg	p.L128M		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	128					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTATCTTCCAGAAATAAGAAG	0.393																																																	0													133.0	126.0	129.0					12																	91449677		2203	4299	6502	SO:0001583	missense	11081			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.382C>A	12.37:g.91449677G>T	ENSP00000266719:p.Leu128Met			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L128M	ENST00000266719.3	37	c.382	CCDS9037.1	12	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438208	0.43326	.	.	ENSG00000139330	ENST00000266719	T	0.75367	-0.93	6.08	5.19	0.71726	.	0.050727	0.85682	D	0.000000	T	0.76870	0.4048	M	0.62016	1.91	0.47245	D	0.999364	P	0.38223	0.623	P	0.46917	0.531	T	0.75331	-0.3355	10	0.36615	T	0.2	-10.3474	11.5193	0.50541	0.1366:0.0:0.8634:0.0	.	128	O60938	KERA_HUMAN	M	128	ENSP00000266719:L128M	ENSP00000266719:L128M	L	-	1	2	KERA	89973808	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.184000	0.58323	1.584000	0.49913	0.655000	0.94253	CTG	KERA	-	smart_Leu-rich_rpt_typical-subtyp		0.393	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KERA	HGNC	protein_coding	OTTHUMT00000407149.2	G	NM_007035		91449677	-1	no_errors	ENST00000266719	ensembl	human	known	70_37	missense	SNP	1.000	T
KHDC1	80759	genome.wustl.edu	37	6	74019283	74019283	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:74019283C>A	ENST00000370384.3	-	1	655	c.155G>T	c.(154-156)aGa>aTa	p.R52I	KHDC1_ENST00000484801.1_5'UTR	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	52						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						ACCTCGATTTCTGCGGATCCA	0.532											OREG0003899|OREG0017531	type=REGULATORY REGION|Gene=BX647670|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	80759				CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.155G>T	6.37:g.74019283C>A	ENSP00000359411:p.Arg52Ile	1149	Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	NULL	p.R52I	ENST00000370384.3	37	c.155	CCDS59027.1	6	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798698	0.31777	.	.	ENSG00000135314	ENST00000370384	T	0.39997	1.05	1.93	-2.25	0.06888	.	.	.	.	.	T	0.17408	0.0418	.	.	.	0.09310	N	1	D	0.58268	0.982	P	0.44518	0.452	T	0.10520	-1.0626	8	0.87932	D	0	.	6.4697	0.22001	0.0:0.4591:0.0:0.5409	.	52	Q4VXA5	KHDC1_HUMAN	I	52	ENSP00000359411:R52I	ENSP00000359411:R52I	R	-	2	0	KHDC1	74076004	0.079000	0.21365	0.006000	0.13384	0.213000	0.24496	-0.241000	0.08940	-0.750000	0.04740	0.407000	0.27541	AGA	KHDC1	-	NULL		0.532	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	KHDC1	HGNC	protein_coding	OTTHUMT00000148103.2	C	NM_030568		74019283	-1	no_errors	ENST00000370384	ensembl	human	putative	70_37	missense	SNP	0.007	A
KHDC1	80759	genome.wustl.edu	37	6	74019363	74019363	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:74019363G>T	ENST00000370384.3	-	1	575	c.75C>A	c.(73-75)atC>atA	p.I25I	KHDC1_ENST00000484801.1_5'UTR	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	25						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						CATAAATGAAGATCAGGACTC	0.498											OREG0017531	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001819	synonymous_variant	80759				CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.75C>A	6.37:g.74019363G>T		1149	Q5JSQ7|Q8WTV2|Q96NQ5	Silent	SNP	NULL	p.I25	ENST00000370384.3	37	c.75	CCDS59027.1	6																																																																																			KHDC1	-	NULL		0.498	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	KHDC1	HGNC	protein_coding	OTTHUMT00000148103.2	G	NM_030568		74019363	-1	no_errors	ENST00000370384	ensembl	human	putative	70_37	silent	SNP	0.000	T
KIAA0020	9933	genome.wustl.edu	37	9	2830977	2830977	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:2830977T>C	ENST00000397885.2	-	7	868	c.662A>G	c.(661-663)aAa>aGa	p.K221R	KIAA0020_ENST00000469168.1_5'Flank	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	221	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CATGAGAAATTTCTTAACAAT	0.308																																																	0													33.0	32.0	32.0					9																	2830977		2188	4288	6476	SO:0001583	missense	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.662A>G	9.37:g.2830977T>C	ENSP00000380982:p.Lys221Arg		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.K221R	ENST00000397885.2	37	c.662	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431719	0.83776	.	.	ENSG00000080608	ENST00000397885	T	0.70516	-0.49	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.85945	2.785	0.80722	D	1	P;P	0.45283	0.855;0.768	B;P	0.48270	0.443;0.572	T	0.81662	-0.0831	10	0.46703	T	0.11	-26.1181	14.8264	0.70117	0.0:0.0:0.0:1.0	.	81;221	B2RDG4;Q15397	.;K0020_HUMAN	R	221	ENSP00000380982:K221R	ENSP00000380982:K221R	K	-	2	0	KIAA0020	2820977	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.573000	0.74009	2.093000	0.63338	0.528000	0.53228	AAA	KIAA0020	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt		0.308	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	T	NM_014878		2830977	-1	no_errors	ENST00000397885	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA0232	9778	genome.wustl.edu	37	4	6862712	6862712	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:6862712T>C	ENST00000307659.5	+	7	1058	c.603T>C	c.(601-603)tgT>tgC	p.C201C	KIAA0232_ENST00000425103.1_Silent_p.C201C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	201							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CTAAAGTCTGTTCTTACTCTA	0.433																																																	0													132.0	135.0	134.0					4																	6862712		2031	4194	6225	SO:0001819	synonymous_variant	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.603T>C	4.37:g.6862712T>C			A7E2D2	Silent	SNP	NULL	p.C201	ENST00000307659.5	37	c.603	CCDS43209.1	4																																																																																			KIAA0232	-	NULL		0.433	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	T	NM_014743		6862712	+1	no_errors	ENST00000307659	ensembl	human	known	70_37	silent	SNP	0.945	C
KIAA0408	9729	genome.wustl.edu	37	6	127767741	127767741	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:127767741C>T	ENST00000483725.3	-	5	2059	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	575										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AATGCAGACTCTGTTGCTGTC	0.443																																																	0													113.0	103.0	106.0					6																	127767741		2203	4300	6503	SO:0001583	missense	9729			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1723G>A	6.37:g.127767741C>T	ENSP00000435150:p.Glu575Lys		B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	NULL	p.E575K	ENST00000483725.3	37	c.1723	CCDS34531.1	6	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.149142	0.00328	.	.	ENSG00000189367	ENST00000483725	T	0.22743	1.94	5.23	4.12	0.48240	.	0.546467	0.15427	U	0.262887	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	B	0.26400	0.148	B	0.21917	0.037	T	0.44757	-0.9307	10	0.06891	T	0.86	-0.2081	7.6501	0.28344	0.0:0.7708:0.0:0.2292	.	575	Q6ZU52	K0408_HUMAN	K	575	ENSP00000435150:E575K	ENSP00000435150:E575K	E	-	1	0	KIAA0408	127809434	0.041000	0.20044	0.001000	0.08648	0.013000	0.08279	1.900000	0.39828	0.866000	0.35629	0.655000	0.94253	GAG	KIAA0408	-	NULL		0.443	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	HGNC	protein_coding	OTTHUMT00000042145.3	C	NM_014702		127767741	-1	no_errors	ENST00000483725	ensembl	human	novel	70_37	missense	SNP	0.001	T
C2CD5	9847	genome.wustl.edu	37	12	22677465	22677465	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:22677465C>T	ENST00000333957.4	-	6	797	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	C2CD5_ENST00000545552.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000542676.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000396028.2_Missense_Mutation_p.R181Q|C2CD5_ENST00000536386.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000446597.1_Missense_Mutation_p.R181Q	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	181					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.R181Q(2)									TGTGCGAATTCGATCAATCCA	0.368																																																	2	Substitution - Missense(2)	large_intestine(2)											134.0	120.0	125.0					12																	22677465		2203	4300	6503	SO:0001583	missense	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.542G>A	12.37:g.22677465C>T	ENSP00000334229:p.Arg181Gln		B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R181Q	ENST00000333957.4	37	c.542	CCDS31758.1	12	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939001	0.92526	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	4.95	4.02	0.46733	.	0.000000	0.64402	D	0.000001	T	0.48484	0.1502	L	0.48642	1.525	0.80722	D	1	D;P;P;D;P	0.69078	0.963;0.827;0.899;0.997;0.719	B;B;B;P;B	0.53722	0.432;0.119;0.17;0.733;0.119	T	0.51340	-0.8718	10	0.54805	T	0.06	-8.7416	14.6419	0.68732	0.146:0.854:0.0:0.0	.	181;181;181;181;181	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	Q	181	ENSP00000334229:R181Q;ENSP00000388756:R181Q;ENSP00000439392:R181Q;ENSP00000379345:R181Q;ENSP00000441951:R181Q;ENSP00000443204:R181Q	ENSP00000334229:R181Q	R	-	2	0	KIAA0528	22568732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.985000	0.70556	2.306000	0.77630	0.585000	0.79938	CGA	KIAA0528	-	NULL		0.368	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0528	HGNC	protein_coding	OTTHUMT00000402257.1	C	NM_014802		22677465	-1	no_errors	ENST00000333957	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA0754	643314	genome.wustl.edu	37	1	39876975	39876975	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:39876975G>T	ENST00000530275.1	+	1	825	c.630G>T	c.(628-630)aaG>aaT	p.K210N	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	210										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAGGGAAAAGACTTTTCTGA	0.458											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													98.0	100.0	100.0					1																	39876975		1957	4148	6105	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.630G>T	1.37:g.39876975G>T	ENSP00000431179:p.Lys210Asn	889	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.K210N	ENST00000530275.1	37	c.630		1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812431	0.32053	.	.	ENSG00000255103	ENST00000530275	T	0.28454	1.61	4.63	1.67	0.24075	.	.	.	.	.	T	0.18045	0.0433	N	0.24115	0.695	0.21184	N	0.999765	B	0.32203	0.36	B	0.32022	0.139	T	0.23404	-1.0189	9	0.87932	D	0	.	3.125	0.06405	0.1509:0.1404:0.563:0.1456	.	210	O94854	K0754_HUMAN	N	210	ENSP00000431179:K210N	ENSP00000431179:K210N	K	+	3	2	RP4-562N20.1	39649562	0.996000	0.38824	0.942000	0.38095	0.781000	0.44180	1.973000	0.40550	0.131000	0.18576	-0.152000	0.13540	AAG	KIAA0754	-	NULL		0.458	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	G	NM_015038		39876975	+1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	0.791	T
KIAA0922	23240	genome.wustl.edu	37	4	154523328	154523328	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:154523328T>G	ENST00000409663.3	+	22	2340	c.2288T>G	c.(2287-2289)tTa>tGa	p.L763*	KIAA0922_ENST00000409959.3_Nonsense_Mutation_p.L764*|KIAA0922_ENST00000440693.1_Nonsense_Mutation_p.L680*	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	763						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAGCAAATTTTATCTATTACA	0.274																																																	0													48.0	51.0	50.0					4																	154523328		2198	4299	6497	SO:0001587	stop_gained	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2288T>G	4.37:g.154523328T>G	ENSP00000386574:p.Leu763*		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Nonsense_Mutation	SNP	pfam_DUF3651_TMEM131	p.L764*	ENST00000409663.3	37	c.2291	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	T	40	8.304863	0.98752	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	.	.	.	5.81	5.81	0.92471	.	0.130631	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9729	16.167	0.81768	0.0:0.0:0.0:1.0	.	.	.	.	X	763;680;764;541	.	ENSP00000240487:L541X	L	+	2	0	KIAA0922	154742778	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.649000	0.83500	2.210000	0.71456	0.533000	0.62120	TTA	KIAA0922	-	NULL		0.274	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	T	NM_015196		154523328	+1	no_errors	ENST00000409959	ensembl	human	known	70_37	nonsense	SNP	1.000	G
ICE1	23379	genome.wustl.edu	37	5	5466580	5466580	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:5466580G>T	ENST00000296564.7	+	14	6248	c.6026G>T	c.(6025-6027)aGa>aTa	p.R2009I		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2009					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GACTTGGAAAGAGCTCGTTTG	0.393																																																	0													163.0	150.0	154.0					5																	5466580		1864	4087	5951	SO:0001583	missense	23379																														ENST00000296564.7:c.6026G>T	5.37:g.5466580G>T	ENSP00000296564:p.Arg2009Ile		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.R2009I	ENST00000296564.7	37	c.6026	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488771	0.84962	.	.	ENSG00000164151	ENST00000296564	T	0.14893	2.47	5.66	5.66	0.87406	.	.	.	.	.	T	0.40171	0.1106	L	0.56769	1.78	0.49483	D	0.99979	D	0.71674	0.998	D	0.77004	0.989	T	0.08973	-1.0696	9	0.87932	D	0	-12.9619	17.2442	0.87022	0.0:0.0:1.0:0.0	.	2009	Q9Y2F5	K0947_HUMAN	I	2009	ENSP00000296564:R2009I	ENSP00000296564:R2009I	R	+	2	0	KIAA0947	5519580	1.000000	0.71417	0.820000	0.32676	0.995000	0.86356	5.504000	0.66968	2.675000	0.91044	0.557000	0.71058	AGA	KIAA0947	-	NULL		0.393	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5466580	+1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	1.000	T
CEP162	22832	genome.wustl.edu	37	6	84836151	84836151	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:84836151C>A	ENST00000403245.3	-	26	4065	c.3951G>T	c.(3949-3951)aaG>aaT	p.K1317N	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.K1241N	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GCTTAATTTTCTTTTCTAAGC	0.318																																																	0													168.0	149.0	155.0					6																	84836151		2201	4298	6499	SO:0001583	missense	22832																														ENST00000403245.3:c.3951G>T	6.37:g.84836151C>A	ENSP00000385215:p.Lys1317Asn			Missense_Mutation	SNP	NULL	p.K1317N	ENST00000403245.3	37	c.3951	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	11.76	1.736060	0.30774	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.18960	2.18;2.18	5.24	4.37	0.52481	.	0.310564	0.34676	N	0.003778	T	0.06096	0.0158	L	0.50333	1.59	0.27674	N	0.946668	B	0.26258	0.145	B	0.28465	0.09	T	0.33574	-0.9863	10	0.15066	T	0.55	-12.7644	5.7318	0.18045	0.158:0.6798:0.0:0.1623	.	1317	Q5TB80	QN1_HUMAN	N	1241;1317	ENSP00000257766:K1241N;ENSP00000385215:K1317N	ENSP00000257766:K1241N	K	-	3	2	KIAA1009	84892870	0.994000	0.37717	1.000000	0.80357	0.923000	0.55619	0.356000	0.20181	1.195000	0.43115	0.655000	0.94253	AAG	KIAA1009	-	NULL		0.318	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84836151	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1024	23251	genome.wustl.edu	37	15	79748540	79748540	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:79748540A>C	ENST00000305428.3	+	2	126	c.51A>C	c.(49-51)gaA>gaC	p.E17D		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	17						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCTTGGAGGAACTGGACAGCA	0.468																																																	0													98.0	90.0	92.0					15																	79748540		2196	4293	6489	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.51A>C	15.37:g.79748540A>C	ENSP00000307461:p.Glu17Asp		A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.E17D	ENST00000305428.3	37	c.51	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	A	15.55	2.865842	0.51588	.	.	ENSG00000169330	ENST00000305428	T	0.39592	1.07	5.71	-9.47	0.00594	.	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	L	0.56769	1.78	0.33919	D	0.6406	B	0.34372	0.451	B	0.37422	0.249	T	0.40384	-0.9566	9	.	.	.	.	17.8873	0.88861	0.1675:0.0:0.7568:0.0757	.	17	Q9UPX6	K1024_HUMAN	D	17	ENSP00000307461:E17D	.	E	+	3	2	KIAA1024	77535595	0.046000	0.20272	0.210000	0.23637	0.967000	0.64934	-0.275000	0.08525	-2.300000	0.00658	-0.538000	0.04264	GAA	KIAA1024	-	NULL		0.468	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	A	NM_015206		79748540	+1	no_errors	ENST00000305428	ensembl	human	known	70_37	missense	SNP	0.173	C
KIAA1033	23325	genome.wustl.edu	37	12	105504914	105504914	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:105504914G>A	ENST00000332180.5	+	2	160	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AATTCATGCCGAAGTCCAACT	0.358																																																	0													65.0	60.0	61.0					12																	105504914		1805	4064	5869	SO:0001583	missense	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.73G>A	12.37:g.105504914G>A	ENSP00000328062:p.Glu25Lys			Missense_Mutation	SNP	NULL	p.E25K	ENST00000332180.5	37	c.73	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372242	0.82573	.	.	ENSG00000136051	ENST00000332180	T	0.50001	0.76	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	L	0.52573	1.65	0.80722	D	1	D;D	0.56521	0.976;0.976	P;P	0.45856	0.495;0.495	T	0.54748	-0.8247	10	0.66056	D	0.02	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	25;25	B7ZKT9;Q2M389	.;WASH7_HUMAN	K	25	ENSP00000328062:E25K	ENSP00000328062:E25K	E	+	1	0	KIAA1033	104029044	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	9.731000	0.98807	2.783000	0.95769	0.655000	0.94253	GAA	KIAA1033	-	NULL		0.358	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	G	NM_015275		105504914	+1	no_errors	ENST00000332180	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1033	23325	genome.wustl.edu	37	12	105538215	105538215	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:105538215C>T	ENST00000332180.5	+	21	2248	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTTTTTCAATCGTTTCATTGA	0.363																																																	0													114.0	108.0	110.0					12																	105538215		1804	4080	5884	SO:0001583	missense	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2161C>T	12.37:g.105538215C>T	ENSP00000328062:p.Arg721Cys			Missense_Mutation	SNP	NULL	p.R721C	ENST00000332180.5	37	c.2161	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099572	0.76983	.	.	ENSG00000136051	ENST00000332180	T	0.46451	0.87	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.49953	0.627;0.627	T	0.37572	-0.9700	10	0.42905	T	0.14	.	13.9237	0.63950	0.2654:0.7346:0.0:0.0	.	722;721	B7ZKT9;Q2M389	.;WASH7_HUMAN	C	721	ENSP00000328062:R721C	ENSP00000328062:R721C	R	+	1	0	KIAA1033	104062345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.694000	0.61760	2.872000	0.98467	0.650000	0.86243	CGT	KIAA1033	-	NULL		0.363	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	C	NM_015275		105538215	+1	no_errors	ENST00000332180	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA1109	84162	genome.wustl.edu	37	4	123165053	123165053	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:123165053A>C	ENST00000264501.4	+	31	5160	c.4787A>C	c.(4786-4788)gAt>gCt	p.D1596A	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D1596A|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D1596A			Q2LD37	K1109_HUMAN	KIAA1109	1596					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATAACACAGATGATGAAACA	0.368																																																	0													107.0	98.0	101.0					4																	123165053		1858	4090	5948	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4787A>C	4.37:g.123165053A>C	ENSP00000264501:p.Asp1596Ala		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.D1596A	ENST00000264501.4	37	c.4787	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.5|26.5	4.748457|4.748457	0.89753|0.89753	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.27104|.	2.29;2.29;1.69|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.44902|.	U|.	0.000405|.	T|T	0.51398|0.51398	0.1672|0.1672	N|N	0.19112|0.19112	0.55|0.55	0.53688|0.53688	D|D	0.999972|0.999972	D;P|.	0.56035|.	0.974;0.884|.	P;B|.	0.54664|.	0.758;0.355|.	T|T	0.48758|0.48758	-0.9007|-0.9007	10|5	0.72032|.	D|.	0.01|.	.|.	15.6942|15.6942	0.77481|0.77481	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1595;1596|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	A|L	1596|169	ENSP00000264501:D1596A;ENSP00000373390:D1596A;ENSP00000389925:D1596A|.	ENSP00000264501:D1596A|.	D|M	+|+	2|1	0|0	KIAA1109|KIAA1109	123384503|123384503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	8.829000|8.829000	0.92055|0.92055	2.106000|2.106000	0.64143|0.64143	0.460000|0.460000	0.39030|0.39030	GAT|ATG	KIAA1109	-	NULL		0.368	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	A	NM_020797		123165053	+1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA1109	84162	genome.wustl.edu	37	4	123267858	123267858	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:123267858T>C	ENST00000264501.4	+	75	13187	c.12814T>C	c.(12814-12816)Tat>Cat	p.Y4272H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y4272H			Q2LD37	K1109_HUMAN	KIAA1109	4272					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGAGCATGGTATAGAAGAAG	0.358																																																	0													185.0	170.0	175.0					4																	123267858		1858	4097	5955	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12814T>C	4.37:g.123267858T>C	ENSP00000264501:p.Tyr4272His		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.Y4272H	ENST00000264501.4	37	c.12814	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	T	28.3	4.904389	0.92035	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707	T;T;T	0.60040	1.04;1.04;0.22	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.994	T	0.79293	-0.1863	10	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	4271;4272	Q2LD37-4;Q2LD37	.;K1109_HUMAN	H	4272;4272;941	ENSP00000264501:Y4272H;ENSP00000373390:Y4272H;ENSP00000410874:Y941H	ENSP00000264501:Y4272H	Y	+	1	0	KIAA1109	123487308	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.291000	0.77112	0.533000	0.62120	TAT	KIAA1109	-	NULL		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	T	NM_020797		123267858	+1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA1210	57481	genome.wustl.edu	37	X	118227698	118227698	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:118227698G>T	ENST00000402510.2	-	10	1414	c.1415C>A	c.(1414-1416)tCt>tAt	p.S472Y		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	472										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCTTCTTCAGAAACCAATGG	0.443																																																	0													128.0	104.0	112.0					X																	118227698		1866	4097	5963	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1415C>A	X.37:g.118227698G>T	ENSP00000384670:p.Ser472Tyr		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.S472Y	ENST00000402510.2	37	c.1415	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007406	0.35415	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.12879	2.64	3.93	2.07	0.26955	.	.	.	.	.	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	D	0.54047	0.964	P	0.53954	0.738	T	0.18085	-1.0348	9	0.44086	T	0.13	.	5.2328	0.15432	0.126:0.2066:0.6674:0.0	.	472	Q9ULL0	K1210_HUMAN	Y	472;272	ENSP00000384670:S472Y	ENSP00000396164:S272Y	S	-	2	0	RP13-347D8.5;RP13-347D8.6	118111726	0.329000	0.24696	0.002000	0.10522	0.048000	0.14542	1.107000	0.31110	0.241000	0.21283	0.410000	0.27636	TCT	KIAA1210	-	NULL		0.443	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	G	NM_020721		118227698	-1	no_errors	ENST00000402510	ensembl	human	known	70_37	missense	SNP	0.025	T
NWD2	57495	genome.wustl.edu	37	4	37446088	37446088	+	Silent	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:37446088C>A	ENST00000309447.5	+	7	3326	c.2478C>A	c.(2476-2478)atC>atA	p.I826I		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		826										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						AACCTGACATCTTTTTCGTTA	0.483																																																	0													73.0	56.0	61.0					4																	37446088		692	1591	2283	SO:0001819	synonymous_variant	57495																														ENST00000309447.5:c.2478C>A	4.37:g.37446088C>A			A8MRU1	Silent	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.I826	ENST00000309447.5	37	c.2478	CCDS47040.1	4																																																																																			KIAA1239	-	NULL		0.483	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	C			37446088	+1	no_errors	ENST00000309447	ensembl	human	known	70_37	silent	SNP	1.000	A
NWD2	57495	genome.wustl.edu	37	4	37447402	37447402	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:37447402A>G	ENST00000309447.5	+	7	4640	c.3792A>G	c.(3790-3792)ggA>ggG	p.G1264G		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1264										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						GGGACACAGGACAGTGTATGG	0.438																																																	0													63.0	49.0	53.0					4																	37447402		692	1591	2283	SO:0001819	synonymous_variant	57495																														ENST00000309447.5:c.3792A>G	4.37:g.37447402A>G			A8MRU1	Silent	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G1264	ENST00000309447.5	37	c.3792	CCDS47040.1	4																																																																																			KIAA1239	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.438	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	A			37447402	+1	no_errors	ENST00000309447	ensembl	human	known	70_37	silent	SNP	0.573	G
KIAA1211	57482	genome.wustl.edu	37	4	57193851	57193851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:57193851G>T	ENST00000504228.1	+	9	3688	c.3583G>T	c.(3583-3585)Gaa>Taa	p.E1195*	KIAA1211_ENST00000541073.1_Nonsense_Mutation_p.E1188*|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.E1195*			Q6ZU35	K1211_HUMAN	KIAA1211	1195										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCTGGTAAAAGAAGTCACCAA	0.517																																																	0													103.0	107.0	106.0					4																	57193851		1826	4081	5907	SO:0001587	stop_gained	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3583G>T	4.37:g.57193851G>T	ENSP00000423366:p.Glu1195*		Q9NTE2|Q9NTP8|Q9ULK9	Nonsense_Mutation	SNP	NULL	p.E1195*	ENST00000504228.1	37	c.3583	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.469449	0.98302	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.7866	19.5815	0.95469	0.0:0.0:1.0:0.0	.	.	.	.	X	1195;1195;1188	.	ENSP00000264229:E1195X	E	+	1	0	KIAA1211	56888608	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	9.334000	0.96470	2.620000	0.88729	0.655000	0.94253	GAA	KIAA1211	-	NULL		0.517	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	G	NM_020722		57193851	+1	no_errors	ENST00000504228	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KIAA1244	57221	genome.wustl.edu	37	6	138640859	138640859	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:138640859T>C	ENST00000251691.4	+	28	4660	c.4494T>C	c.(4492-4494)taT>taC	p.Y1498Y		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTGGTATCTATGCAGTGGTTC	0.488																																																	0													195.0	198.0	197.0					6																	138640859		2203	4300	6503	SO:0001819	synonymous_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4494T>C	6.37:g.138640859T>C				Silent	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.Y1498	ENST00000251691.4	37	c.4494	CCDS5189.2	6																																																																																			KIAA1244	-	superfamily_ARM-type_fold		0.488	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	T	NM_020340		138640859	+1	no_errors	ENST00000251691	ensembl	human	known	70_37	silent	SNP	1.000	C
MAP10	54627	genome.wustl.edu	37	1	232941134	232941134	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:232941134G>T	ENST00000418460.1	+	1	492	c.365G>T	c.(364-366)aGa>aTa	p.R122I		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TTTCTCGTGAGACCCCGGGGC	0.647																																																	0													24.0	27.0	26.0					1																	232941134		1908	4118	6026	SO:0001583	missense	54627			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.365G>T	1.37:g.232941134G>T	ENSP00000403208:p.Arg122Ile		A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	NULL	p.R122I	ENST00000418460.1	37	c.365	CCDS44334.1	1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547072	0.65198	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.02	4.1	0.47936	.	.	.	.	.	T	0.72045	0.3412	.	.	.	0.42581	D	0.993215	.	.	.	.	.	.	T	0.74825	-0.3533	5	0.54805	T	0.06	.	13.1933	0.59723	0.0:0.0:0.8405:0.1595	.	.	.	.	I	122	.	ENSP00000403208:R122I	R	+	2	0	KIAA1383	231007757	1.000000	0.71417	0.998000	0.56505	0.124000	0.20399	3.586000	0.53950	1.237000	0.43756	0.313000	0.20887	AGA	KIAA1383	-	NULL		0.647	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1383	HGNC	protein_coding	OTTHUMT00000092317.3	G	NM_019090		232941134	+1	no_errors	ENST00000418460	ensembl	human	known	70_37	missense	SNP	1.000	T
CFAP97	57587	genome.wustl.edu	37	4	186112193	186112193	+	Missense_Mutation	SNP	G	G	A	rs373566490		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:186112193G>A	ENST00000458385.2	-	2	277	c.158C>T	c.(157-159)tCg>tTg	p.S53L	KIAA1430_ENST00000296775.6_Missense_Mutation_p.S53L|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S53L	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		53								p.S53L(1)		endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TCCAGTGTTCGAATTTACATT	0.343																																																	1	Substitution - Missense(1)	large_intestine(1)						G	LEU/SER	2,3646		0,2,1822	115.0	101.0	105.0		158	2.9	0.0	4		105	0,8156		0,0,4078	no	missense	KIAA1430	NM_020827.1	145	0,2,5900	AA,AG,GG		0.0,0.0548,0.0169	benign	53/533	186112193	2,11802	1824	4078	5902	SO:0001583	missense	57587																														ENST00000458385.2:c.158C>T	4.37:g.186112193G>A	ENSP00000409964:p.Ser53Leu		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	NULL	p.S53L	ENST00000458385.2	37	c.158	CCDS47168.1	4	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.386832	0.01194	5.48E-4	0.0	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775;ENST00000503223	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.46	2.86	0.33363	.	1.191590	0.06039	N	0.654595	T	0.11367	0.0277	N	0.00138	-2.015	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18935	-1.0321	10	0.07175	T	0.84	0.4491	9.94	0.41574	0.86:0.0:0.14:0.0	.	53;53	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	L	53	ENSP00000409964:S53L;ENSP00000423312:S53L;ENSP00000296775:S53L;ENSP00000420832:S53L	ENSP00000296775:S53L	S	-	2	0	KIAA1430	186349187	0.000000	0.05858	0.016000	0.15963	0.002000	0.02628	0.152000	0.16302	0.440000	0.26502	-0.290000	0.09829	TCG	KIAA1430	-	NULL		0.343	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	G			186112193	-1	no_errors	ENST00000296775	ensembl	human	known	70_37	missense	SNP	0.089	A
RIC1	57589	genome.wustl.edu	37	9	5765691	5765691	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:5765691C>A	ENST00000414202.2	+	21	3221	c.3030C>A	c.(3028-3030)ttC>ttA	p.F1010L	KIAA1432_ENST00000251879.6_Missense_Mutation_p.F1010L|KIAA1432_ENST00000449720.2_Missense_Mutation_p.F894L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.F931L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.F931L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATTTGAGTTCTTCAGGAATC	0.433																																																	0													235.0	230.0	232.0					9																	5765691		2203	4300	6503	SO:0001583	missense	57589																														ENST00000414202.2:c.3030C>A	9.37:g.5765691C>A	ENSP00000416696:p.Phe1010Leu			Missense_Mutation	SNP	pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.F931L	ENST00000414202.2	37	c.2793	CCDS34982.2	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.541055|3.541055	0.65085|0.65085	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76047|0.76047	0.3933|0.3933	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;P;P;B|.	0.39831|.	0.498;0.498;0.69;0.045|.	B;B;B;B|.	0.36666|.	0.115;0.164;0.23;0.034|.	T|T	0.71859|0.71859	-0.4465|-0.4465	9|5	0.25106|.	T|.	0.35|.	-18.4469|-18.4469	20.5948|20.5948	0.99439|0.99439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	894;931;1010;1010|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	L|I	1010;1010;931;931;894|902	.|.	ENSP00000251879:F1010L|.	F|L	+|+	3|1	2|0	KIAA1432|KIAA1432	5755691|5755691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.004000|3.004000	0.49513|0.49513	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	TTC|CTT	KIAA1432	-	NULL		0.433	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	HGNC	protein_coding	OTTHUMT00000051636.3	C			5765691	+1	no_errors	ENST00000418622	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1467	57613	genome.wustl.edu	37	12	13233558	13233558	+	Splice_Site	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:13233558G>T	ENST00000197268.8	+	13	1983		c.e13-1			NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTTTTCCATAGATCTAATCTG	0.368																																																	0													92.0	85.0	87.0					12																	13233558		2203	4300	6503	SO:0001630	splice_region_variant	57613			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1864-1G>T	12.37:g.13233558G>T			Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Splice_Site	SNP	-	e13-1	ENST00000197268.8	37	c.1864-1	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396746	0.25205	.	.	ENSG00000084444	ENST00000197268	.	.	.	4.91	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.32906	D	0.513836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1498	0.48451	0.0:0.1857:0.8143:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1467	13124825	0.538000	0.26394	0.008000	0.14137	0.136000	0.21042	1.861000	0.39438	1.271000	0.44313	0.555000	0.69702	.	KIAA1467	-	-		0.368	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	G	NM_020853	Intron	13233558	+1	no_errors	ENST00000197268	ensembl	human	known	70_37	splice_site	SNP	0.022	T
KIAA1549	57670	genome.wustl.edu	37	7	138588463	138588463	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:138588463C>A	ENST00000422774.1	-	8	3588	c.3540G>T	c.(3538-3540)gaG>gaT	p.E1180D	KIAA1549_ENST00000242365.4_Missense_Mutation_p.E1130D|KIAA1549_ENST00000440172.1_Missense_Mutation_p.E1180D			Q9HCM3	K1549_HUMAN	KIAA1549	1180						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGAGTTGCTTCTCCATGACGC	0.498			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													49.0	48.0	48.0					7																	138588463		1964	4150	6114	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.3540G>T	7.37:g.138588463C>A	ENSP00000416040:p.Glu1180Asp		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.E1180D	ENST00000422774.1	37	c.3540	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	9.124	1.009733	0.19277	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22945	1.94;1.94;1.93	4.71	2.88	0.33553	.	0.160220	0.53938	D	0.000046	T	0.09113	0.0225	N	0.03177	-0.4	0.35157	D	0.770304	B;B	0.33964	0.434;0.38	B;B	0.34418	0.182;0.114	T	0.26950	-1.0088	10	0.12103	T	0.63	.	6.3345	0.21289	0.0:0.6531:0.1649:0.182	.	1180;1180	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	D	1180;1130;1180	ENSP00000406661:E1180D;ENSP00000242365:E1130D;ENSP00000416040:E1180D	ENSP00000242365:E1130D	E	-	3	2	KIAA1549	138239003	0.998000	0.40836	1.000000	0.80357	0.803000	0.45373	0.485000	0.22324	0.581000	0.29539	0.591000	0.81541	GAG	KIAA1549	-	NULL		0.498	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	C			138588463	-1	no_errors	ENST00000422774	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1549L	25758	genome.wustl.edu	37	11	33631415	33631415	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:33631415G>A	ENST00000321505.4	+	14	4471	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1437K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1431						integral component of membrane (GO:0016021)											GGGTCTGACCGAAAGAAAGAA	0.483																																																	0													67.0	72.0	70.0					11																	33631415		1931	4133	6064	SO:0001583	missense	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4291G>A	11.37:g.33631415G>A	ENSP00000315295:p.Glu1431Lys		B0QYU0	Missense_Mutation	SNP	NULL	p.E1437K	ENST00000321505.4	37	c.4309	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631656	0.67015	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.54	5.54	0.83059	.	0.334792	0.34025	N	0.004338	T	0.78566	0.4303	M	0.66939	2.045	0.38639	D	0.951573	D	0.89917	1.0	D	0.70227	0.968	T	0.81084	-0.1093	9	0.66056	D	0.02	-8.5903	19.4802	0.95007	0.0:0.0:1.0:0.0	.	1437	E9PAT2	.	K	1431;1437;1270	.	ENSP00000315295:E1431K	E	+	1	0	C11orf41	33587991	1.000000	0.71417	0.178000	0.23040	0.040000	0.13550	6.014000	0.70784	2.601000	0.87937	0.655000	0.94253	GAA	KIAA1549L	-	NULL		0.483	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	G	NM_012194		33631415	+1	no_errors	ENST00000389726	ensembl	human	known	70_37	missense	SNP	0.993	A
KIAA1551	55196	genome.wustl.edu	37	12	32137827	32137827	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:32137827C>A	ENST00000312561.4	+	4	4352	c.3938C>A	c.(3937-3939)tCt>tAt	p.S1313Y	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1313																	ATGACAGCATCTTATGAACAA	0.348																																																	0													80.0	83.0	82.0					12																	32137827		2203	4300	6503	SO:0001583	missense	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3938C>A	12.37:g.32137827C>A	ENSP00000310338:p.Ser1313Tyr		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.S1313Y	ENST00000312561.4	37	c.3938	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.622104	0.00820	.	.	ENSG00000174718	ENST00000312561	T	0.13901	2.55	3.76	-1.21	0.09524	.	0.757332	0.11679	N	0.540038	T	0.06096	0.0158	N	0.19112	0.55	0.09310	N	1	B	0.22003	0.063	B	0.19391	0.025	T	0.39663	-0.9603	9	.	.	.	.	1.0198	0.01515	0.1361:0.2575:0.2174:0.3889	.	1313	Q9HCM1	CL035_HUMAN	Y	1313	ENSP00000310338:S1313Y	.	S	+	2	0	C12orf35	32029094	0.000000	0.05858	0.005000	0.12908	0.173000	0.22820	-0.202000	0.09451	0.227000	0.20999	-0.253000	0.11424	TCT	KIAA1551	-	NULL		0.348	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	C	NM_018169		32137827	+1	no_errors	ENST00000312561	ensembl	human	known	70_37	missense	SNP	0.000	A
KIAA1586	57691	genome.wustl.edu	37	6	56918562	56918562	+	Missense_Mutation	SNP	G	G	A	rs372711155		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:56918562G>A	ENST00000370733.4	+	4	1472	c.1265G>A	c.(1264-1266)cGa>cAa	p.R422Q	KIAA1586_ENST00000545356.1_Missense_Mutation_p.R395Q	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	422							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTAAATCATCGATTACAATTG	0.264																																																	0								G	GLN/ARG	1,4399		0,1,2199	36.0	38.0	37.0		1265	1.0	1.0	6		37	0,8580		0,0,4290	no	missense	KIAA1586	NM_020931.2	43	0,1,6489	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	422/788	56918562	1,12979	2200	4290	6490	SO:0001583	missense	57691			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.1265G>A	6.37:g.56918562G>A	ENSP00000359768:p.Arg422Gln		A8K4M3|Q8IW25	Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.R422Q	ENST00000370733.4	37	c.1265	CCDS34480.1	6	.	.	.	.	.	.	.	.	.	.	g	14.69	2.609972	0.46527	2.27E-4	0.0	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.21031	2.03;2.03	3.82	1.02	0.19986	Ribonuclease H-like (1);	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.21147	N	0.999772	B;B	0.22983	0.078;0.078	B;B	0.14578	0.011;0.011	T	0.46062	-0.9218	9	0.27785	T	0.31	0.7337	6.2309	0.20734	0.3196:0.0:0.6804:0.0	.	395;422	F5H2N6;Q9HCI6	.;K1586_HUMAN	Q	422;395	ENSP00000359768:R422Q;ENSP00000445507:R395Q	ENSP00000359768:R422Q	R	+	2	0	KIAA1586	57026521	0.697000	0.27767	0.986000	0.45419	0.991000	0.79684	0.451000	0.21779	0.079000	0.16929	0.585000	0.79938	CGA	KIAA1586	-	superfamily_RNaseH-like_dom		0.264	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1586	HGNC	protein_coding	OTTHUMT00000041033.1	G	NM_020931		56918562	+1	no_errors	ENST00000370733	ensembl	human	known	70_37	missense	SNP	0.989	A
KIAA1683	80726	genome.wustl.edu	37	19	18380275	18380275	+	Splice_Site	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:18380275C>T	ENST00000600328.3	-	2	207		c.e2+1		KIAA1683_ENST00000600359.3_Splice_Site|KIAA1683_ENST00000392413.4_Splice_Site			Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CATCTTCTTACCTTGAAGGGT	0.527																																																	0													129.0	103.0	112.0					19																	18380275		2203	4300	6503	SO:0001630	splice_region_variant	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.13+1G>A	19.37:g.18380275C>T			B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Splice_Site	SNP	-	e1+1	ENST00000600328.3	37	c.13+1	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497123	0.44352	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000411671	.	.	.	2.77	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2775	0.37709	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1683	18241275	1.000000	0.71417	0.998000	0.56505	0.836000	0.47400	1.458000	0.35223	1.878000	0.54408	0.456000	0.33151	.	KIAA1683	-	-		0.527	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	C		Intron	18380275	-1	no_errors	ENST00000392413	ensembl	human	known	70_37	splice_site	SNP	1.000	T
KIAA1715	80856	genome.wustl.edu	37	2	176794800	176794800	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:176794800C>A	ENST00000272748.4	-	13	1429	c.1182G>T	c.(1180-1182)gaG>gaT	p.E394D	KIAA1715_ENST00000544803.1_Missense_Mutation_p.E425D|KIAA1715_ENST00000535310.1_3'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	394					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CATTCTCAGTCTCTTGTTTCT	0.433																																																	0													222.0	204.0	210.0					2																	176794800		2203	4300	6503	SO:0001583	missense	80856			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.1182G>T	2.37:g.176794800C>A	ENSP00000272748:p.Glu394Asp		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	pfam_DUF2296	p.E425D	ENST00000272748.4	37	c.1275	CCDS33332.1	2	.	.	.	.	.	.	.	.	.	.	c	10.29	1.308515	0.23821	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803	.	.	.	5.57	1.89	0.25635	.	0.355322	0.29066	N	0.013248	T	0.51007	0.1649	M	0.61703	1.905	0.38378	D	0.945047	B;B;B;B	0.30482	0.275;0.281;0.18;0.079	B;B;B;B	0.31337	0.128;0.027;0.016;0.016	T	0.54193	-0.8330	9	0.87932	D	0	0.0303	7.656	0.28375	0.0:0.3421:0.0:0.6579	.	396;425;391;394	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	D	394;396;271;425	.	ENSP00000272748:E394D	E	-	3	2	KIAA1715	176503046	0.515000	0.26210	0.971000	0.41717	0.540000	0.34992	0.211000	0.17474	0.495000	0.27882	-0.340000	0.08031	GAG	KIAA1715	-	NULL		0.433	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1715	HGNC	protein_coding	OTTHUMT00000333949.3	C	XM_042834		176794800	-1	no_errors	ENST00000544803	ensembl	human	known	70_37	missense	SNP	0.659	A
KIAA1731	85459	genome.wustl.edu	37	11	93399888	93399888	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:93399888C>T	ENST00000325212.6	+	2	177	c.15C>T	c.(13-15)gtC>gtT	p.V5V	KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000411936.1_Silent_p.V5V			Q9C0D2	K1731_HUMAN	KIAA1731	5						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)				AGAGAAAAGTCGTGAATACTC	0.338																																																	0													119.0	105.0	109.0					11																	93399888		692	1591	2283	SO:0001819	synonymous_variant	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.15C>T	11.37:g.93399888C>T			C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Silent	SNP	NULL	p.V5	ENST00000325212.6	37	c.15	CCDS44708.1	11																																																																																			KIAA1731	-	NULL		0.338	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	C	NM_033395		93399888	+1	no_errors	ENST00000411936	ensembl	human	known	70_37	silent	SNP	0.001	T
KIAA1731	85459	genome.wustl.edu	37	11	93431732	93431732	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:93431732G>T	ENST00000325212.6	+	15	3816	c.3654G>T	c.(3652-3654)caG>caT	p.Q1218H	KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000411936.1_Missense_Mutation_p.Q1218H|KIAA1731_ENST00000531700.1_Intron			Q9C0D2	K1731_HUMAN	KIAA1731	1218						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)				AGAGATTCCAGGAATGTATAT	0.408																																																	0													48.0	39.0	41.0					11																	93431732		692	1591	2283	SO:0001583	missense	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.3654G>T	11.37:g.93431732G>T	ENSP00000316681:p.Gln1218His		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.Q1218H	ENST00000325212.6	37	c.3654	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184559	0.38609	.	.	ENSG00000166004	ENST00000325212;ENST00000411936	T;T	0.10668	2.85;2.85	5.72	1.79	0.24919	.	0.569253	0.14782	N	0.298719	T	0.12860	0.0312	N	0.20574	0.59	0.30096	N	0.807898	D	0.65815	0.995	P	0.57620	0.824	T	0.09729	-1.0661	10	0.54805	T	0.06	-0.1727	8.0901	0.30795	0.3305:0.0:0.6695:0.0	.	1218	Q9C0D2	K1731_HUMAN	H	1218	ENSP00000316681:Q1218H;ENSP00000406505:Q1218H	ENSP00000316681:Q1218H	Q	+	3	2	KIAA1731	93071380	0.691000	0.27709	0.046000	0.18839	0.040000	0.13550	1.109000	0.31135	0.368000	0.24481	-0.173000	0.13275	CAG	KIAA1731	-	NULL		0.408	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	G	NM_033395		93431732	+1	no_errors	ENST00000411936	ensembl	human	known	70_37	missense	SNP	0.067	T
KIAA1841	84542	genome.wustl.edu	37	2	61310442	61310442	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:61310442T>G	ENST00000402291.1	+	8	1124	c.883T>G	c.(883-885)Ttt>Gtt	p.F295V	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Missense_Mutation_p.F295V|KIAA1841_ENST00000453873.1_Missense_Mutation_p.F295V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.F295V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	295										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AAAAGATAAATTTAAAAGGTA	0.269																																																	0													36.0	34.0	35.0					2																	61310442		2203	4298	6501	SO:0001583	missense	84542			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.883T>G	2.37:g.61310442T>G	ENSP00000385579:p.Phe295Val		Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.F295V	ENST00000402291.1	37	c.883	CCDS46296.1	2	.	.	.	.	.	.	.	.	.	.	T	11.69	1.714611	0.30413	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.48	4.32	0.51571	.	0.050318	0.85682	D	0.000000	T	0.45518	0.1346	L	0.48877	1.53	0.50313	D	0.999866	B;B;B	0.28026	0.117;0.085;0.198	B;B;B	0.28784	0.057;0.094;0.081	T	0.31138	-0.9954	9	0.25751	T	0.34	-12.3187	6.1396	0.20253	0.1428:0.0764:0.0:0.7808	.	295;295;295	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	V	295	.	ENSP00000295031:F295V	F	+	1	0	KIAA1841	61163946	1.000000	0.71417	0.987000	0.45799	0.938000	0.57974	5.940000	0.70187	1.013000	0.39391	0.533000	0.62120	TTT	KIAA1841	-	pfam_DUF3342		0.269	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1	T	NM_032506		61310442	+1	no_errors	ENST00000356719	ensembl	human	known	70_37	missense	SNP	0.998	G
KIAA2022	340533	genome.wustl.edu	37	X	73962043	73962043	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:73962043C>A	ENST00000055682.6	-	3	2960	c.2349G>T	c.(2347-2349)aaG>aaT	p.K783N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	783					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGTGGAACTCTTAGCAGCCT	0.408																																																	0													94.0	88.0	90.0					X																	73962043		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2349G>T	X.37:g.73962043C>A	ENSP00000055682:p.Lys783Asn		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.K783N	ENST00000055682.6	37	c.2349	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760736	0.49468	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.35048	1.33;1.33	5.73	4.69	0.59074	.	0.451006	0.21615	N	0.071733	T	0.40546	0.1121	L	0.34521	1.04	0.49687	D	0.999817	D	0.67145	0.996	P	0.62184	0.899	T	0.28586	-1.0039	10	0.56958	D	0.05	-13.6708	5.7765	0.18281	0.0:0.6885:0.0:0.3115	.	783	Q5QGS0	K2022_HUMAN	N	783	ENSP00000362567:K783N;ENSP00000055682:K783N	ENSP00000055682:K783N	K	-	3	2	KIAA2022	73878768	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.412000	0.44609	2.415000	0.81967	0.600000	0.82982	AAG	KIAA2022	-	NULL		0.408	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	C	NM_001008537		73962043	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA2022	340533	genome.wustl.edu	37	X	73965413	73965413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:73965413C>A	ENST00000055682.6	-	2	684	c.73G>T	c.(73-75)Gaa>Taa	p.E25*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	25					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTACCATTTTCTTTGACCCCA	0.363																																																	0													95.0	80.0	85.0					X																	73965413		2202	4299	6501	SO:0001587	stop_gained	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.73G>T	X.37:g.73965413C>A	ENSP00000055682:p.Glu25*		A7YY87|Q5JUX9|Q8IVE9	Nonsense_Mutation	SNP	NULL	p.E25*	ENST00000055682.6	37	c.73	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.201663	0.99098	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	.	.	.	5.68	4.81	0.61882	.	0.336772	0.29119	N	0.013081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.6618	14.2494	0.66009	0.0:0.9258:0.0:0.0741	.	.	.	.	X	25	.	ENSP00000055682:E25X	E	-	1	0	KIAA2022	73882138	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.448000	0.52943	1.133000	0.42147	0.594000	0.82650	GAA	KIAA2022	-	NULL		0.363	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	C	NM_001008537		73965413	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KIAA2026	158358	genome.wustl.edu	37	9	5921108	5921108	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:5921108T>G	ENST00000399933.3	-	8	4887	c.4888A>C	c.(4888-4890)Aat>Cat	p.N1630H	KIAA2026_ENST00000381461.2_Missense_Mutation_p.N1600H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1630										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTCACAAAATTTGAGCTTACT	0.368																																																	0													107.0	100.0	102.0					9																	5921108		1847	4103	5950	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4888A>C	9.37:g.5921108T>G	ENSP00000382815:p.Asn1630His		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.N1630H	ENST00000399933.3	37	c.4888		9	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932659	0.34096	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.29	5.29	0.74685	.	0.450111	0.23319	N	0.049466	T	0.30103	0.0754	L	0.32530	0.975	0.24784	N	0.992794	B	0.23806	0.091	B	0.20955	0.032	T	0.20840	-1.0263	9	0.66056	D	0.02	-8.6684	6.726	0.23357	0.0:0.0768:0.1546:0.7686	.	1630	Q5HYC2	K2026_HUMAN	H	1630;1600	.	ENSP00000370870:N1600H	N	-	1	0	KIAA2026	5911108	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	1.659000	0.37387	2.226000	0.72624	0.482000	0.46254	AAT	KIAA2026	-	NULL		0.368	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	T	NM_001017969		5921108	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	missense	SNP	1.000	G
KIF1A	547	genome.wustl.edu	37	2	241664796	241664796	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:241664796A>C	ENST00000320389.7	-	38	4003	c.3845T>G	c.(3844-3846)gTt>gGt	p.V1282G	KIF1A_ENST00000498729.2_Missense_Mutation_p.V1383G	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1282					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTTGGTGACAACAGCCGGCTG	0.622																																																	0													57.0	69.0	65.0					2																	241664796		2127	4263	6390	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3845T>G	2.37:g.241664796A>C	ENSP00000322791:p.Val1282Gly		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V1383G	ENST00000320389.7	37	c.4148	CCDS46561.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.22|17.22	3.334800|3.334800	0.60853|0.60853	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000431776|ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.|T;T;T	.|0.75260	.|-0.78;-0.87;-0.92	3.7|3.7	3.7|3.7	0.42460|0.42460	.|.	.|0.069361	.|0.56097	.|U	.|0.000027	D|D	0.84115|0.84115	0.5401|0.5401	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.998;0.992;0.989	.|D;D;P	.|0.75020	.|0.955;0.985;0.873	D|D	0.85906|0.85906	0.1437|0.1437	5|10	.|0.87932	.|D	.|0	.|.	12.3771|12.3771	0.55285|0.55285	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1383;1391;1282	.|F5H045;Q12756-2;Q12756	.|.;.;KIF1A_HUMAN	V|G	215|1282;1383;1391;1391	.|ENSP00000322791:V1282G;ENSP00000438388:V1383G;ENSP00000384231:V1391G	.|ENSP00000322791:V1282G	L|V	-|-	1|2	2|0	KIF1A|KIF1A	241313469|241313469	1.000000|1.000000	0.71417|0.71417	0.601000|0.601000	0.28877|0.28877	0.402000|0.402000	0.30811|0.30811	7.030000|7.030000	0.76484|0.76484	1.319000|1.319000	0.45190|0.45190	0.482000|0.482000	0.46254|0.46254	TTG|GTT	KIF1A	-	pfam_Kinesin-like		0.622	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	A	NM_138483		241664796	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	missense	SNP	0.998	C
KIF1B	23095	genome.wustl.edu	37	1	10327452	10327452	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:10327452A>C	ENST00000377086.1	+	6	646	c.444A>C	c.(442-444)gaA>gaC	p.E148D	KIF1B_ENST00000263934.6_Missense_Mutation_p.E148D|KIF1B_ENST00000377093.4_Missense_Mutation_p.E148D|KIF1B_ENST00000377083.1_Missense_Mutation_p.E148D|KIF1B_ENST00000377081.1_Missense_Mutation_p.E148D			O60333	KIF1B_HUMAN	kinesin family member 1B	148	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTACATGGAAATTTACTGTG	0.438																																																	0													76.0	72.0	73.0					1																	10327452		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.444A>C	1.37:g.10327452A>C	ENSP00000366290:p.Glu148Asp		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E148D	ENST00000377086.1	37	c.444		1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316651	0.81469	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	5.62	4.49	0.54785	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.95934	0.8676	H	0.99197	4.465	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.992;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.971;0.999	D	0.95404	0.8492	10	0.87932	D	0	.	9.4002	0.38428	0.844:0.0:0.156:0.0	.	148;148;148;148;148;148;148	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	D	148	ENSP00000263934:E148D;ENSP00000366297:E148D;ENSP00000366290:E148D;ENSP00000366287:E148D;ENSP00000366284:E148D	ENSP00000263934:E148D	E	+	3	2	KIF1B	10250039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.049000	0.57397	1.067000	0.40740	0.477000	0.44152	GAA	KIF1B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.438	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	A			10327452	+1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF24	347240	genome.wustl.edu	37	9	34257873	34257873	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:34257873A>G	ENST00000402558.2	-	10	1756	c.1732T>C	c.(1732-1734)Ttg>Ctg	p.L578L	KIF24_ENST00000345050.2_Silent_p.L444L|KIF24_ENST00000379174.3_Silent_p.L444L|KIF24_ENST00000379166.2_Silent_p.L578L			Q5T7B8	KIF24_HUMAN	kinesin family member 24	578					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCCTCTGACAAAGCCCCAGGG	0.488																																																	0													85.0	90.0	88.0					9																	34257873		2203	4300	6503	SO:0001819	synonymous_variant	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1732T>C	9.37:g.34257873A>G			Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L578	ENST00000402558.2	37	c.1732	CCDS6551.2	9																																																																																			KIF24	-	NULL		0.488	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	A			34257873	-1	no_errors	ENST00000379166	ensembl	human	known	70_37	silent	SNP	0.420	G
KIF4A	24137	genome.wustl.edu	37	X	69595079	69595079	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:69595079C>A	ENST00000374403.3	+	17	1886	c.1804C>A	c.(1804-1806)Ctc>Atc	p.L602I	KIF4A_ENST00000374388.3_Missense_Mutation_p.L602I	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	602					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCGCAAACGTCTCCAGGAGCT	0.473																																																	0													73.0	63.0	67.0					X																	69595079		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1804C>A	X.37:g.69595079C>A	ENSP00000363524:p.Leu602Ile		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L602I	ENST00000374403.3	37	c.1804	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916920	0.92249	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.74842	2.19;-0.88	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000056	D	0.85758	0.5771	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.972	D;D	0.85130	0.997;0.943	D	0.86859	0.2028	10	0.72032	D	0.01	.	17.3242	0.87243	0.0:1.0:0.0:0.0	.	602;602	O95239;O95239-2	KIF4A_HUMAN;.	I	602	ENSP00000363509:L602I;ENSP00000363524:L602I	ENSP00000363509:L602I	L	+	1	0	KIF4A	69511804	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.314000	0.65804	2.562000	0.86427	0.600000	0.82982	CTC	KIF4A	-	NULL		0.473	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	C	NM_012310		69595079	+1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF4B	285643	genome.wustl.edu	37	5	154395747	154395747	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:154395747G>T	ENST00000435029.4	+	1	2488	c.2328G>T	c.(2326-2328)caG>caT	p.Q776H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	776	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCTGGCTCAGGATGTGGTTC	0.448																																																	0													59.0	60.0	59.0					5																	154395747		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2328G>T	5.37:g.154395747G>T	ENSP00000387875:p.Gln776His			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q776H	ENST00000435029.4	37	c.2328	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	g	11.45	1.642625	0.29246	.	.	ENSG00000226650	ENST00000435029	T	0.68903	-0.36	2.13	-4.26	0.03755	.	.	.	.	.	T	0.46521	0.1397	L	0.41710	1.295	0.46185	D	0.998917	B	0.28552	0.215	B	0.22601	0.04	T	0.04693	-1.0933	9	0.40728	T	0.16	.	3.8877	0.09105	0.5045:0.0:0.3257:0.1698	.	776	Q2VIQ3	KIF4B_HUMAN	H	776	ENSP00000387875:Q776H	ENSP00000387875:Q776H	Q	+	3	2	KIF4B	154375940	1.000000	0.71417	0.902000	0.35471	0.962000	0.63368	3.478000	0.53158	-1.359000	0.02174	-0.259000	0.10710	CAG	KIF4B	-	NULL		0.448	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	G			154395747	+1	no_errors	ENST00000435029	ensembl	human	known	70_37	missense	SNP	0.998	T
KIFAP3	22920	genome.wustl.edu	37	1	169951900	169951900	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:169951900C>T	ENST00000361580.2	-	14	1842	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	KIFAP3_ENST00000540905.1_Missense_Mutation_p.E241K|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E495K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E461K|KIFAP3_ENST00000367765.1_Missense_Mutation_p.E499K	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	539					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAACCAATTCCCAGTCTAAG	0.373																																																	0													93.0	94.0	94.0					1																	169951900		2203	4300	6503	SO:0001583	missense	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1615G>A	1.37:g.169951900C>T	ENSP00000354560:p.Glu539Lys		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E539K	ENST00000361580.2	37	c.1615	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348927	0.82132	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.044816	0.85682	D	0.000000	T	0.48750	0.1517	L	0.54323	1.7	0.80722	D	1	D	0.56746	0.977	P	0.53809	0.735	T	0.40117	-0.9580	9	.	.	.	-23.3379	18.7248	0.91710	0.0:1.0:0.0:0.0	.	539	Q92845	KIFA3_HUMAN	K	539;499;495;241;461	ENSP00000354560:E539K;ENSP00000356739:E499K;ENSP00000356741:E495K;ENSP00000442712:E241K;ENSP00000444622:E461K	.	E	-	1	0	KIFAP3	168218524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.449000	0.80643	2.501000	0.84356	0.650000	0.86243	GAA	KIFAP3	-	superfamily_ARM-type_fold		0.373	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	C	NM_014970		169951900	-1	no_errors	ENST00000361580	ensembl	human	known	70_37	missense	SNP	1.000	T
KIFAP3	22920	genome.wustl.edu	37	1	169993693	169993693	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:169993693C>T	ENST00000361580.2	-	9	1113	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	KIFAP3_ENST00000540905.1_5'UTR|RP11-332H17.1_ENST00000440321.1_RNA|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E252K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E218K|KIFAP3_ENST00000367765.1_Missense_Mutation_p.E256K	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	296					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTTTCAGTTCGGTACGAGTA	0.328																																																	0													72.0	73.0	73.0					1																	169993693		2203	4300	6503	SO:0001583	missense	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.886G>A	1.37:g.169993693C>T	ENSP00000354560:p.Glu296Lys		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E296K	ENST00000361580.2	37	c.886	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.550949	0.96501	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.92	5.92	0.95590	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.74147	-0.3759	9	.	.	.	-26.8534	19.9123	0.97029	0.0:1.0:0.0:0.0	.	296	Q92845	KIFA3_HUMAN	K	296;256;252;218	ENSP00000354560:E296K;ENSP00000356739:E256K;ENSP00000356741:E252K;ENSP00000444622:E218K	.	E	-	1	0	KIFAP3	168260317	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.398000	0.79919	2.801000	0.96364	0.650000	0.86243	GAA	KIFAP3	-	superfamily_ARM-type_fold		0.328	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	C	NM_014970		169993693	-1	no_errors	ENST00000361580	ensembl	human	known	70_37	missense	SNP	1.000	T
KIN	22944	genome.wustl.edu	37	10	7798011	7798011	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:7798011G>T	ENST00000379562.4	-	0	1261				KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Intron	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GATGCTTTAAGATTTTAATGT	0.323																																																	0													73.0	81.0	78.0					10																	7798011		2202	4296	6498	SO:0001624	3_prime_UTR_variant	22944			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.*32C>A	10.37:g.7798011G>T				RNA	SNP	-	NULL	ENST00000379562.4	37	NULL	CCDS7080.1	10																																																																																			KIN	-	-		0.323	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIN	HGNC	protein_coding	OTTHUMT00000046683.2	G	NM_012311		7798011	-1	no_errors	ENST00000463666	ensembl	human	known	70_37	rna	SNP	0.000	T
KL	9365	genome.wustl.edu	37	13	33628404	33628404	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:33628404A>C	ENST00000380099.3	+	2	1328	c.1320A>C	c.(1318-1320)gaA>gaC	p.E440D	KL_ENST00000426690.2_Missense_Mutation_p.E133D|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	440	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TCATCATGGAAACCTTAAAAG	0.328																																																	0													75.0	80.0	78.0					13																	33628404		2160	4293	6453	SO:0001583	missense	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1320A>C	13.37:g.33628404A>C	ENSP00000369442:p.Glu440Asp		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.E440D	ENST00000380099.3	37	c.1320	CCDS9347.1	13	.	.	.	.	.	.	.	.	.	.	A	13.45	2.239995	0.39598	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.34072	1.38;1.47	5.76	3.35	0.38373	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	M	0.69823	2.125	0.58432	D	0.999991	B;B	0.24483	0.104;0.046	B;B	0.35688	0.208;0.04	T	0.19582	-1.0301	10	0.45353	T	0.12	-28.6297	6.5216	0.22279	0.7312:0.1313:0.1375:0.0	.	440;133	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	D	133;440	ENSP00000399513:E133D;ENSP00000369442:E440D	ENSP00000369442:E440D	E	+	3	2	KL	32526404	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.678000	0.25277	0.465000	0.27167	0.533000	0.62120	GAA	KL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.328	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1	A			33628404	+1	no_errors	ENST00000380099	ensembl	human	known	70_37	missense	SNP	1.000	C
KLF3	51274	genome.wustl.edu	37	4	38698705	38698705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:38698705G>T	ENST00000261438.5	+	6	1164	c.859G>T	c.(859-861)Gaa>Taa	p.E287*		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	287					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TTTTGCAGGAGAAAAACCCTA	0.343																																																	0													71.0	69.0	70.0					4																	38698705		2203	4300	6503	SO:0001587	stop_gained	51274			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.859G>T	4.37:g.38698705G>T	ENSP00000261438:p.Glu287*		Q6PIR1|Q86TN0|Q9P2X6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E287*	ENST00000261438.5	37	c.859	CCDS3444.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.737256	0.98462	.	.	ENSG00000109787	ENST00000261438	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	X	287	.	ENSP00000261438:E287X	E	+	1	0	KLF3	38375100	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GAA	KLF3	-	pfscan_Znf_C2H2		0.343	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2	G			38698705	+1	no_errors	ENST00000261438	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KLHL4	56062	genome.wustl.edu	37	X	86869044	86869044	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:86869044A>G	ENST00000373119.4	+	2	732	c.587A>G	c.(586-588)cAt>cGt	p.H196R	KLHL4_ENST00000373114.4_Missense_Mutation_p.H196R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	196	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATCCCAGCCCATAGGTAAGTA	0.358																																																	0													97.0	87.0	90.0					X																	86869044		2203	4299	6502	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.587A>G	X.37:g.86869044A>G	ENSP00000362211:p.His196Arg		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.H196R	ENST00000373119.4	37	c.587	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	a	15.03	2.713036	0.48517	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.79749	-1.3;-1.3	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.211793	0.48767	D	0.000166	D	0.93923	0.8055	H	0.99740	4.74	0.80722	D	1	D;D	0.54397	0.966;0.958	D;P	0.63488	0.915;0.885	D	0.95895	0.8910	10	0.87932	D	0	.	13.1539	0.59505	1.0:0.0:0.0:0.0	.	196;196	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	R	196	ENSP00000362211:H196R;ENSP00000362206:H196R	ENSP00000362206:H196R	H	+	2	0	KLHL4	86755700	1.000000	0.71417	0.692000	0.30179	0.185000	0.23345	8.744000	0.91596	1.698000	0.51180	0.409000	0.27619	CAT	KLHL4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.358	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	A			86869044	+1	no_errors	ENST00000373114	ensembl	human	known	70_37	missense	SNP	1.000	G
KLK8	11202	genome.wustl.edu	37	19	51501139	51501139	+	Splice_Site	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:51501139C>A	ENST00000600767.1	-	6	984	c.495G>T	c.(493-495)gaG>gaT	p.E165D	KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000347619.4_Splice_Site_p.E24D|KLK8_ENST00000291726.7_Splice_Site_p.E165D|KLK8_ENST00000391806.2_Splice_Site_p.E210D|KLK8_ENST00000593490.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	165	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CAGGAAAATTCTCTGAGGGGG	0.507																																																	0													81.0	79.0	79.0					19																	51501139		2203	4300	6503	SO:0001630	splice_region_variant	11202			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.494-1G>T	19.37:g.51501139C>A			Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E210D	ENST00000600767.1	37	c.630	CCDS12813.1	19	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202441	0.38905	.	.	ENSG00000129455	ENST00000391806;ENST00000291726;ENST00000347619	D;D;D	0.92858	-3.12;-3.12;-2.38	4.39	4.39	0.52855	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.49305	D	0.000155	D	0.82701	0.5094	N	0.02379	-0.575	0.80722	D	1	P;B;P	0.49783	0.928;0.004;0.612	P;B;B	0.50136	0.632;0.007;0.227	T	0.81510	-0.0900	10	0.33940	T	0.23	.	8.4874	0.33080	0.0:0.8981:0.0:0.1019	.	24;165;210	O60259-3;O60259;O60259-2	.;KLK8_HUMAN;.	D	210;165;24	ENSP00000375682:E210D;ENSP00000291726:E165D;ENSP00000341555:E24D	ENSP00000291726:E165D	E	-	3	2	KLK8	56192951	0.036000	0.19791	1.000000	0.80357	0.916000	0.54674	-0.376000	0.07465	2.744000	0.94065	0.561000	0.74099	GAG	KLK8	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.507	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK8	HGNC	protein_coding	OTTHUMT00000465032.2	C	NM_007196	Missense_Mutation	51501139	-1	no_errors	ENST00000391806	ensembl	human	known	70_37	missense	SNP	1.000	A
KNTC1	9735	genome.wustl.edu	37	12	123057714	123057714	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:123057714G>A	ENST00000333479.7	+	26	2342	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	KNTC1_ENST00000450485.2_Missense_Mutation_p.R685Q	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	722					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATAGTGTTCCGAATGTTTGAT	0.378																																																	0													122.0	119.0	120.0					12																	123057714		1844	4085	5929	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2165G>A	12.37:g.123057714G>A	ENSP00000328236:p.Arg722Gln		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.R722Q	ENST00000333479.7	37	c.2165	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097697	0.56075	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.25085	1.82;2.33	5.45	5.45	0.79879	.	0.132610	0.53938	D	0.000056	T	0.47838	0.1467	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.927	T	0.17868	-1.0355	10	0.28530	T	0.3	-9.528	19.2801	0.94050	0.0:0.0:1.0:0.0	.	685;722	E7ES84;P50748	.;KNTC1_HUMAN	Q	685;722	ENSP00000397992:R685Q;ENSP00000328236:R722Q	ENSP00000328236:R722Q	R	+	2	0	KNTC1	121623667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.320000	0.65841	2.570000	0.86706	0.655000	0.94253	CGA	KNTC1	-	NULL		0.378	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123057714	+1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	1.000	A
KNTC1	9735	genome.wustl.edu	37	12	123062327	123062327	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:123062327C>A	ENST00000333479.7	+	31	3007	c.2830C>A	c.(2830-2832)Cat>Aat	p.H944N	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	944					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGAGCCAGATCATTCTAAAGA	0.368																																																	0													76.0	71.0	73.0					12																	123062327		1834	4090	5924	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2830C>A	12.37:g.123062327C>A	ENSP00000328236:p.His944Asn		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.H944N	ENST00000333479.7	37	c.2830	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	C	4.110	0.018616	0.07959	.	.	ENSG00000184445	ENST00000333479	T	0.13657	2.57	5.84	-11.7	0.00046	.	0.794772	0.12051	N	0.504117	T	0.02767	0.0083	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43245	-0.9403	10	0.16420	T	0.52	1.0E-4	10.5798	0.45248	0.3854:0.3562:0.2583:0.0	.	944	P50748	KNTC1_HUMAN	N	944	ENSP00000328236:H944N	ENSP00000328236:H944N	H	+	1	0	KNTC1	121628280	0.000000	0.05858	0.005000	0.12908	0.660000	0.38997	-1.460000	0.02368	-2.135000	0.00811	-0.262000	0.10625	CAT	KNTC1	-	superfamily_PAH		0.368	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	C			123062327	+1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.000	A
KPNA3	3839	genome.wustl.edu	37	13	50366632	50366632	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:50366632T>G	ENST00000261667.3	-	1	425	c.11A>C	c.(10-12)aAc>aCc	p.N4T		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	4	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CAAGCTGGGGTTCTCGGCCAT	0.716																																																	0													59.0	60.0	59.0					13																	50366632		2203	4300	6503	SO:0001583	missense	3839			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.11A>C	13.37:g.50366632T>G	ENSP00000261667:p.Asn4Thr		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.N4T	ENST00000261667.3	37	c.11	CCDS9421.1	13	.	.	.	.	.	.	.	.	.	.	T	17.00	3.275792	0.59649	.	.	ENSG00000102753	ENST00000261667	T	0.41758	0.99	3.87	3.87	0.44632	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);	0.057359	0.64402	N	0.000003	T	0.31857	0.0810	L	0.31926	0.97	0.58432	D	0.999993	B	0.25390	0.125	B	0.27887	0.084	T	0.11641	-1.0579	10	0.39692	T	0.17	-0.0911	10.6331	0.45549	0.0:0.0:0.0:1.0	.	4	O00505	IMA3_HUMAN	T	4	ENSP00000261667:N4T	ENSP00000261667:N4T	N	-	2	0	KPNA3	49264633	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	5.944000	0.70219	1.396000	0.46663	0.366000	0.22137	AAC	KPNA3	-	pfam_Importin-a_IBB,pfscan_Importin-a_IBB		0.716	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2	T	NM_002267		50366632	-1	no_errors	ENST00000261667	ensembl	human	known	70_37	missense	SNP	1.000	G
KRBA2	124751	genome.wustl.edu	37	17	8272985	8272985	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:8272985G>T	ENST00000331336.2	-	2	951	c.946C>A	c.(946-948)Ctt>Att	p.L316I	RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.L234I|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	316	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						GGTGTACCAAGAATTGTGAAA	0.423																																																	0													47.0	47.0	47.0					17																	8272985		2203	4300	6503	SO:0001583	missense	124751			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.946C>A	17.37:g.8272985G>T	ENSP00000328017:p.Leu316Ile		Q8IYY0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_RNaseH-like_dom,superfamily_Krueppel-associated_box,pfscan_Integrase_cat-core	p.L316I	ENST00000331336.2	37	c.946	CCDS11141.1	17	.	.	.	.	.	.	.	.	.	.	g	9.077	0.998382	0.19121	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.44482	0.92;0.92	3.2	3.2	0.36748	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.21387	0.0515	N	0.05124	-0.11	0.24667	N	0.99343	B	0.25955	0.138	B	0.24006	0.05	T	0.09773	-1.0659	9	0.24483	T	0.36	.	10.1931	0.43039	0.0:0.0:1.0:0.0	.	316	Q6ZNG9	KRBA2_HUMAN	I	234;316	ENSP00000379565:L234I;ENSP00000328017:L316I	ENSP00000328017:L316I	L	-	1	0	KRBA2	8213710	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.633000	0.24598	2.110000	0.64415	0.650000	0.86243	CTT	KRBA2	-	superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core		0.423	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRBA2	HGNC	protein_coding	OTTHUMT00000256338.1	G	NM_213597		8272985	-1	no_errors	ENST00000331336	ensembl	human	known	70_37	missense	SNP	0.998	T
KRT1	3848	genome.wustl.edu	37	12	53070101	53070101	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:53070101T>C	ENST00000252244.3	-	7	1491	c.1433A>G	c.(1432-1434)gAg>gGg	p.E478G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	478	Coil 2.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GGTGGCAATCTCCAGATCCAG	0.587																																																	0													98.0	72.0	81.0					12																	53070101		2203	4300	6503	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1433A>G	12.37:g.53070101T>C	ENSP00000252244:p.Glu478Gly		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E478G	ENST00000252244.3	37	c.1433	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	t	24.6	4.550889	0.86127	.	.	ENSG00000167768	ENST00000252244	D	0.96802	-4.13	4.79	4.79	0.61399	Prefoldin (1);Filament (1);	.	.	.	.	D	0.98940	0.9640	H	0.99011	4.4	0.51767	D	0.999931	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	9	0.87932	D	0	.	14.6359	0.68689	0.0:0.0:0.0:1.0	.	478	P04264	K2C1_HUMAN	G	478	ENSP00000252244:E478G	ENSP00000252244:E478G	E	-	2	0	KRT1	51356368	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.974000	0.88039	1.932000	0.55993	0.379000	0.24179	GAG	KRT1	-	pfam_F,superfamily_Prefoldin		0.587	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	T	NM_006121		53070101	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	missense	SNP	1.000	C
KRT16P2	400578	genome.wustl.edu	37	17	16734875	16734875	+	RNA	SNP	G	G	A	rs537159134		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:16734875G>A	ENST00000579062.1	-	0	440									keratin 16 pseudogene 2																		GCTCATGCTCGTAACTGGCAG	0.632																																																	0																																												400578					17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734875G>A				RNA	SNP	-	NULL	ENST00000579062.1	37	NULL		17																																																																																			KRT16P2	-	-		0.632	KRT16P2-002	KNOWN	basic	processed_transcript	KRT16P2	HGNC	pseudogene	OTTHUMT00000444288.2	G	NR_029392		16734875	-1	no_errors	ENST00000579062	ensembl	human	known	70_37	rna	SNP	0.990	A
KRT24	192666	genome.wustl.edu	37	17	38859538	38859538	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:38859538G>T	ENST00000264651.2	-	1	464	c.408C>A	c.(406-408)ttC>ttA	p.F136L		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	136	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCCCTCCAGAGAAAAGCCCCC	0.532																																					GBM(61;380 1051 14702 23642 31441)												0													194.0	207.0	203.0					17																	38859538		2203	4300	6503	SO:0001583	missense	192666				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.408C>A	17.37:g.38859538G>T	ENSP00000264651:p.Phe136Leu		Q9NXG7	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.F136L	ENST00000264651.2	37	c.408	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	G	8.513	0.867016	0.17250	.	.	ENSG00000167916	ENST00000264651	T	0.79454	-1.27	5.6	5.6	0.85130	.	.	.	.	.	T	0.52191	0.1719	N	0.04203	-0.255	0.32098	N	0.591011	B	0.02656	0.0	B	0.04013	0.001	T	0.49457	-0.8938	9	0.02654	T	1	.	10.5498	0.45081	0.1483:0.0:0.8517:0.0	.	136	Q2M2I5	K1C24_HUMAN	L	136	ENSP00000264651:F136L	ENSP00000264651:F136L	F	-	3	2	KRT24	36113064	0.755000	0.28372	1.000000	0.80357	0.857000	0.48899	0.006000	0.13152	2.800000	0.96347	0.655000	0.94253	TTC	KRT24	-	NULL		0.532	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	G	NM_019016		38859538	-1	no_errors	ENST00000264651	ensembl	human	known	70_37	missense	SNP	1.000	T
KRT25	147183	genome.wustl.edu	37	17	38904606	38904606	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:38904606G>T	ENST00000312150.4	-	8	1336	c.1276C>A	c.(1276-1278)Ctt>Att	p.L426I		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ACCTCCTCAAGAACTTTCTTA	0.353																																																	0													165.0	155.0	158.0					17																	38904606		2203	4300	6503	SO:0001583	missense	147183			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1276C>A	17.37:g.38904606G>T	ENSP00000310573:p.Leu426Ile			Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.L426I	ENST00000312150.4	37	c.1276	CCDS11373.1	17	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754322	0.49362	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.82081	-1.57	5.81	5.81	0.92471	.	0.000000	0.53938	D	0.000053	T	0.76357	0.3976	L	0.36672	1.1	0.29777	N	0.834272	B	0.06786	0.001	B	0.12156	0.007	T	0.69756	-0.5059	10	0.40728	T	0.16	.	13.6544	0.62328	0.0:0.199:0.8009:0.0	.	426	Q7Z3Z0	K1C25_HUMAN	I	355;426	ENSP00000310573:L426I	ENSP00000310573:L426I	L	-	1	0	KRT25	36158132	0.978000	0.34361	0.979000	0.43373	0.995000	0.86356	1.707000	0.37888	2.746000	0.94184	0.655000	0.94253	CTT	KRT25	-	NULL		0.353	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT25	HGNC	protein_coding	OTTHUMT00000257218.1	G	NM_181534		38904606	-1	no_errors	ENST00000312150	ensembl	human	known	70_37	missense	SNP	0.980	T
KRT35	3886	genome.wustl.edu	37	17	39636896	39636896	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:39636896C>T	ENST00000393989.1	-	1	496	c.454G>A	c.(454-456)Gag>Aag	p.E152K	KRT35_ENST00000246639.2_Missense_Mutation_p.E122K	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	152	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	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)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TGGAGCTCCTCGATGGTCCGG	0.552																																																	0													59.0	64.0	62.0					17																	39636896		2201	4297	6498	SO:0001583	missense	3886			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.454G>A	17.37:g.39636896C>T	ENSP00000377558:p.Glu152Lys		O76012|Q92651	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E152K	ENST00000393989.1	37	c.454	CCDS11394.2	17	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305461	0.40795	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.89123	-2.47;-2.47	5.18	5.18	0.71444	Filament (1);	0.000000	0.64402	D	0.000010	D	0.91774	0.7398	M	0.73319	2.225	0.33893	D	0.637535	P	0.47034	0.889	P	0.50659	0.647	D	0.95146	0.8268	10	0.72032	D	0.01	.	17.8612	0.88781	0.0:1.0:0.0:0.0	.	152	Q92764	KRT35_HUMAN	K	122;152	ENSP00000246639:E122K;ENSP00000377558:E152K	ENSP00000246639:E122K	E	-	1	0	KRT35	36890422	0.038000	0.19896	0.985000	0.45067	0.318000	0.28184	1.756000	0.38390	2.689000	0.91719	0.511000	0.50034	GAG	KRT35	-	pfam_F		0.552	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	HGNC	protein_coding		C	NM_002280		39636896	-1	no_errors	ENST00000393989	ensembl	human	known	70_37	missense	SNP	0.949	T
KRTAP11-1	337880	genome.wustl.edu	37	21	32253821	32253821	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:32253821C>A	ENST00000332378.4	-	1	53	c.23G>T	c.(22-24)aGa>aTa	p.R8I		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	8						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R8I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGAGCAATTTCTTGTGGAGCA	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)											98.0	91.0	93.0					21																	32253821		2203	4300	6503	SO:0001583	missense	337880			AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.23G>T	21.37:g.32253821C>A	ENSP00000330720:p.Arg8Ile		A1L4I8	Missense_Mutation	SNP	pfam_PMG	p.R8I	ENST00000332378.4	37	c.23	CCDS13608.1	21	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276592	0.59758	.	.	ENSG00000182591	ENST00000332378	T	0.03413	3.94	5.17	2.3	0.28687	.	0.230813	0.35096	N	0.003448	T	0.07007	0.0178	M	0.79258	2.445	0.42323	D	0.992261	P	0.40970	0.734	P	0.44860	0.462	T	0.12967	-1.0527	10	0.66056	D	0.02	-1.8318	2.5229	0.04684	0.1514:0.5358:0.1469:0.1659	.	8	Q8IUC1	KR111_HUMAN	I	8	ENSP00000330720:R8I	ENSP00000330720:R8I	R	-	2	0	KRTAP11-1	31175692	0.972000	0.33761	0.917000	0.36280	0.991000	0.79684	1.233000	0.32648	0.281000	0.22233	0.650000	0.86243	AGA	KRTAP11-1	-	pfam_PMG		0.532	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP11-1	HGNC	protein_coding	OTTHUMT00000128225.1	C			32253821	-1	no_errors	ENST00000332378	ensembl	human	known	70_37	missense	SNP	0.759	A
L1CAM	3897	genome.wustl.edu	37	X	153137669	153137669	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:153137669C>T	ENST00000370060.1	-	5	527	c.338G>A	c.(337-339)cGc>cAc	p.R113H	L1CAM_ENST00000370057.3_Missense_Mutation_p.R113H|L1CAM_ENST00000543994.1_Missense_Mutation_p.R115H|L1CAM_ENST00000538883.1_Missense_Mutation_p.R115H|L1CAM_ENST00000370055.1_Missense_Mutation_p.R108H|L1CAM_ENST00000361699.4_Missense_Mutation_p.R113H|L1CAM_ENST00000361981.3_Missense_Mutation_p.R108H	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	113	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCAAAGCAGCGGTAGATGCC	0.627																																																	0													113.0	89.0	97.0					X																	153137669		2203	4300	6503	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.338G>A	X.37:g.153137669C>T	ENSP00000359077:p.Arg113His		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R115H	ENST00000370060.1	37	c.344	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421961	0.83559	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935	T;T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	4.98	4.98	0.66077	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.36717	0.0977	M	0.67625	2.065	0.39375	D	0.966151	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.959;0.996	T	0.23511	-1.0186	10	0.87932	D	0	.	16.0481	0.80734	0.0:1.0:0.0:0.0	.	108;113;113	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	H	113;115;113;115;108;108;113;113;108	ENSP00000359077:R113H;ENSP00000438430:R115H;ENSP00000359074:R113H;ENSP00000439645:R115H;ENSP00000354712:R108H;ENSP00000359072:R108H;ENSP00000355380:R113H;ENSP00000402407:R113H;ENSP00000384902:R108H	ENSP00000355380:R113H	R	-	2	0	L1CAM	152790863	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.916000	0.28651	2.304000	0.77564	0.529000	0.55759	CGC	L1CAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.627	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	C	NM_024003		153137669	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	missense	SNP	1.000	T
L3MBTL1	26013	genome.wustl.edu	37	20	42159421	42159421	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:42159421C>T	ENST00000427442.2	+	11	1285				L3MBTL1_ENST00000373134.1_Intron|L3MBTL1_ENST00000373135.3_Intron|L3MBTL1_ENST00000444063.1_Intron|L3MBTL1_ENST00000418998.1_Intron			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)						chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TCTGTTCATGCCCCTCGAGGG	0.627																																																	0													43.0	41.0	42.0					20																	42159421		2203	4300	6503	SO:0001627	intron_variant	26013			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1127-17C>T	20.37:g.42159421C>T			B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	RNA	SNP	-	NULL	ENST00000427442.2	37	NULL	CCDS46602.2	20																																																																																			L3MBTL1	-	-		0.627	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3	C	NM_032107		42159421	+1	no_errors	ENST00000497347	ensembl	human	known	70_37	rna	SNP	0.968	T
LACC1	144811	genome.wustl.edu	37	13	44462906	44462906	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:44462906T>G	ENST00000441843.1	+	5	1406	c.921T>G	c.(919-921)acT>acG	p.T307T	LACC1_ENST00000325686.6_Silent_p.T307T	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	307																	GGAAAGGTACTTTGTTGGGTG	0.363																																																	0													225.0	202.0	210.0					13																	44462906		2203	4300	6503	SO:0001819	synonymous_variant	144811			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.921T>G	13.37:g.44462906T>G			A2A3Z6|Q8N8X5	Silent	SNP	pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat	p.T307	ENST00000441843.1	37	c.921	CCDS9391.1	13																																																																																			LACC1	-	pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat		0.363	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LACC1	HGNC	protein_coding	OTTHUMT00000044726.3	T	NM_153218		44462906	+1	no_errors	ENST00000325686	ensembl	human	known	70_37	silent	SNP	0.919	G
LAMA1	284217	genome.wustl.edu	37	18	6980553	6980553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:6980553C>A	ENST00000389658.3	-	42	6067	c.5974G>T	c.(5974-5976)Gaa>Taa	p.E1992*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1992	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AAGAGTGATTCATTGGTTTGC	0.348																																																	0													199.0	173.0	182.0					18																	6980553		2202	4300	6502	SO:0001587	stop_gained	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5974G>T	18.37:g.6980553C>A	ENSP00000374309:p.Glu1992*			Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E1992*	ENST00000389658.3	37	c.5974	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	46	12.487558	0.99672	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.15	1.4	0.22301	.	0.789290	0.11598	N	0.548009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	8.3206	0.32126	0.0:0.6939:0.0:0.3061	.	.	.	.	X	1992	.	ENSP00000374309:E1992X	E	-	1	0	LAMA1	6970553	0.847000	0.29606	0.001000	0.08648	0.832000	0.47134	0.737000	0.26144	0.036000	0.15547	0.655000	0.94253	GAA	LAMA1	-	NULL		0.348	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	C	NM_005559		6980553	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	nonsense	SNP	0.779	A
LAMA2	3908	genome.wustl.edu	37	6	129571353	129571353	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:129571353T>G	ENST00000421865.2	+	13	1928	c.1879T>G	c.(1879-1881)Tta>Gta	p.L627V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	627	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATGATTATCTTAGAGGTAGA	0.418																																																	0													139.0	119.0	126.0					6																	129571353		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1879T>G	6.37:g.129571353T>G	ENSP00000400365:p.Leu627Val		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L627V	ENST00000421865.2	37	c.1879	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	T	8.421	0.846297	0.16963	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.48836	0.8	5.69	3.06	0.35304	Laminin B type IV (2);Laminin B, subgroup (1);	0.152897	0.40554	N	0.001066	T	0.24005	0.0581	M	0.81341	2.54	0.25604	N	0.986568	B;B	0.28128	0.016;0.201	B;B	0.27608	0.021;0.081	T	0.18681	-1.0329	10	0.34782	T	0.22	.	2.5884	0.04836	0.3062:0.2198:0.0:0.474	.	627;627	A6NF00;P24043	.;LAMA2_HUMAN	V	627	ENSP00000400365:L627V	ENSP00000346769:L627V	L	+	1	2	LAMA2	129613046	1.000000	0.71417	0.977000	0.42913	0.163000	0.22366	1.136000	0.31467	1.095000	0.41419	0.533000	0.62120	TTA	LAMA2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	T			129571353	+1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	0.994	G
LAMA2	3908	genome.wustl.edu	37	6	129573365	129573365	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:129573365T>G	ENST00000421865.2	+	14	2070	c.2021T>G	c.(2020-2022)tTt>tGt	p.F674C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	674	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGAAAGGAATTTATGACAGTG	0.398																																																	0													107.0	100.0	103.0					6																	129573365		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2021T>G	6.37:g.129573365T>G	ENSP00000400365:p.Phe674Cys		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.F674C	ENST00000421865.2	37	c.2021	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748331	0.69533	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.45668	0.89	5.67	5.67	0.87782	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	M	0.81942	2.565	0.53688	D	0.999979	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	T	0.66594	-0.5884	10	0.87932	D	0	.	16.2076	0.82138	0.0:0.0:0.0:1.0	.	674;674	A6NF00;P24043	.;LAMA2_HUMAN	C	674	ENSP00000400365:F674C	ENSP00000346769:F674C	F	+	2	0	LAMA2	129615058	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.562000	0.67346	2.285000	0.76669	0.477000	0.44152	TTT	LAMA2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	T			129573365	+1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	1.000	G
LAMA2	3908	genome.wustl.edu	37	6	129785560	129785560	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:129785560C>T	ENST00000421865.2	+	50	7167	c.7118C>T	c.(7117-7119)tCg>tTg	p.S2373L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2373	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACATTTTCTTCGAGTGCTCTT	0.423																																																	0													274.0	222.0	240.0					6																	129785560		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7118C>T	6.37:g.129785560C>T	ENSP00000400365:p.Ser2373Leu		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.S2373L	ENST00000421865.2	37	c.7118	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.555896	0.96514	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.77098	-1.07	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.172642	0.53938	D	0.000060	D	0.83464	0.5260	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.967	T	0.80564	-0.1326	9	.	.	.	.	20.1922	0.98231	0.0:1.0:0.0:0.0	.	2374;2373	A6NF00;P24043	.;LAMA2_HUMAN	L	2373;2372;2373;391	ENSP00000400365:S2373L	.	S	+	2	0	LAMA2	129827253	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.578000	0.60929	2.767000	0.95098	0.655000	0.94253	TCG	LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.423	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	C			129785560	+1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	1.000	T
LAMC3	10319	genome.wustl.edu	37	9	133911651	133911651	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:133911651G>A	ENST00000361069.4	+	4	1041	c.908G>A	c.(907-909)cGc>cAc	p.R303H	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	303	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.R303H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GACTGTGAGCGCTGCCTGCCC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											28.0	31.0	30.0					9																	133911651		2200	4298	6498	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.908G>A	9.37:g.133911651G>A	ENSP00000354360:p.Arg303His		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R303H	ENST00000361069.4	37	c.908	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445631	0.25987	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.64260	-0.09	5.06	1.72	0.24424	EGF-like, laminin (4);	0.474905	0.21551	N	0.072731	T	0.51381	0.1671	L	0.49699	1.58	0.19575	N	0.999969	B	0.33022	0.394	B	0.30572	0.117	T	0.44802	-0.9304	10	0.48119	T	0.1	.	9.3915	0.38376	0.3959:0.0:0.6041:0.0	.	303	Q9Y6N6	LAMC3_HUMAN	H	303	ENSP00000354360:R303H	ENSP00000325873:R303H	R	+	2	0	LAMC3	132901472	0.000000	0.05858	1.000000	0.80357	0.365000	0.29674	-0.002000	0.12924	0.538000	0.28769	-0.369000	0.07265	CGC	LAMC3	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.687	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	G	NM_006059		133911651	+1	no_errors	ENST00000361069	ensembl	human	known	70_37	missense	SNP	0.175	A
LAMTOR4	389541	genome.wustl.edu	37	7	99751273	99751273	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:99751273G>A	ENST00000341942.5	+	3	268				MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000498638.1_5'Flank|LAMTOR4_ENST00000441173.1_Missense_Mutation_p.G112E|LAMTOR4_ENST00000468582.1_Intron	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4						cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											CTCCCTTTGGGACTCCCTGGT	0.532																																																	0																																										SO:0001627	intron_variant	389541				CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 59"""	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.202+133G>A	7.37:g.99751273G>A				Missense_Mutation	SNP	NULL	p.G112E	ENST00000341942.5	37	c.335	CCDS34702.1	7	.	.	.	.	.	.	.	.	.	.	g	10.51	1.371783	0.24857	.	.	ENSG00000188186	ENST00000441173	.	.	.	1.81	1.81	0.25067	.	.	.	.	.	T	0.32615	0.0835	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20706	-1.0267	4	.	.	.	.	7.0895	0.25275	0.0:0.0:1.0:0.0	.	.	.	.	E	112	.	.	G	+	2	0	C7orf59	99589209	0.000000	0.05858	0.016000	0.15963	0.134000	0.20937	-1.234000	0.02931	1.320000	0.45209	0.462000	0.41574	GGA	LAMTOR4	-	NULL		0.532	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR4	HGNC	protein_coding	OTTHUMT00000337373.2	G	NM_001008395		99751273	+1	no_errors	ENST00000441173	ensembl	human	putative	70_37	missense	SNP	0.028	A
LAP3	51056	genome.wustl.edu	37	4	17583415	17583415	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:17583415G>A	ENST00000226299.4	+	3	525	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	LAP3_ENST00000606142.1_Missense_Mutation_p.R53Q	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	84					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GGGAAGACTCGAACCTTTTAT	0.428																																																	0													187.0	177.0	180.0					4																	17583415		2203	4300	6503	SO:0001583	missense	51056			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.251G>A	4.37:g.17583415G>A	ENSP00000226299:p.Arg84Gln		B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17	p.R84Q	ENST00000226299.4	37	c.251	CCDS3422.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.819626	0.96982	.	.	ENSG00000002549	ENST00000226299	T	0.44881	0.91	5.87	5.87	0.94306	Peptidase M17, leucyl aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.67639	-0.5619	10	0.37606	T	0.19	-12.1137	20.5827	0.99408	0.0:0.0:1.0:0.0	.	53;84	P28838-2;P28838	.;AMPL_HUMAN	Q	84	ENSP00000226299:R84Q	ENSP00000226299:R84Q	R	+	2	0	LAP3	17192513	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.048000	0.76606	2.941000	0.99782	0.655000	0.94253	CGA	LAP3	-	pfam_Peptidase_M17_N		0.428	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	G			17583415	+1	no_errors	ENST00000226299	ensembl	human	known	70_37	missense	SNP	1.000	A
LARP1	23367	genome.wustl.edu	37	5	154173553	154173553	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:154173553C>T	ENST00000336314.4	+	6	855	c.831C>T	c.(829-831)ggC>ggT	p.G277G		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	354					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGGGTGGCACTCGAAGTA	0.687																																																	0													58.0	61.0	60.0					5																	154173553		2203	4300	6503	SO:0001819	synonymous_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.831C>T	5.37:g.154173553C>T			O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.G277	ENST00000336314.4	37	c.831	CCDS4328.1	5																																																																																			LARP1	-	NULL		0.687	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	C	NM_033551		154173553	+1	no_errors	ENST00000336314	ensembl	human	known	70_37	silent	SNP	0.994	T
LARP4	113251	genome.wustl.edu	37	12	50869372	50869372	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:50869372C>A	ENST00000398473.2	+	16	2012	c.1900C>A	c.(1900-1902)Ctt>Att	p.L634I	LARP4_ENST00000429001.3_Missense_Mutation_p.L640I|LARP4_ENST00000293618.8_Missense_Mutation_p.L563I|LARP4_ENST00000518444.1_Missense_Mutation_p.L633I|LARP4_ENST00000347328.5_Missense_Mutation_p.L563I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	634					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCTTCAGTTCTTGTGCAGCC	0.443																																																	0													148.0	151.0	150.0					12																	50869372		1832	4096	5928	SO:0001583	missense	113251			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1900C>A	12.37:g.50869372C>A	ENSP00000381490:p.Leu634Ile		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.L640I	ENST00000398473.2	37	c.1918	CCDS41782.1	12	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726571	0.69074	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.18	3.3	0.37823	.	0.195954	0.43919	D	0.000504	T	0.37652	0.1011	L	0.50333	1.59	0.18873	N	0.999989	P;P;P;B;B;P;P	0.44946	0.82;0.846;0.584;0.028;0.028;0.586;0.467	B;B;B;B;B;B;B	0.42738	0.245;0.354;0.396;0.032;0.032;0.178;0.091	T	0.18681	-1.0329	10	0.30078	T	0.28	.	11.6388	0.51220	0.0:0.8023:0.1264:0.0713	.	515;44;633;563;563;634;640	Q71RC2-2;Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;.;LARP4_HUMAN;.	I	563;640;634;633;515;563	ENSP00000293618:L563I;ENSP00000415464:L640I;ENSP00000381490:L634I;ENSP00000429077:L633I;ENSP00000340901:L563I	ENSP00000293618:L563I	L	+	1	0	LARP4	49155639	0.001000	0.12720	1.000000	0.80357	0.982000	0.71751	0.900000	0.28431	1.309000	0.44985	0.643000	0.83706	CTT	LARP4	-	NULL		0.443	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP4	HGNC	protein_coding	OTTHUMT00000374981.1	C	NM_052879		50869372	+1	no_errors	ENST00000429001	ensembl	human	known	70_37	missense	SNP	0.999	A
LARS	51520	genome.wustl.edu	37	5	145537109	145537109	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:145537109G>A	ENST00000394434.2	-	10	1088	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Missense_Mutation_p.R262C|LARS_ENST00000274562.9_Missense_Mutation_p.R281C|LARS_ENST00000510191.1_Missense_Mutation_p.R254C	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	308	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.R308C(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ATATCAGGACGAACCCAACAA	0.408																																																	1	Substitution - Missense(1)	skin(1)											90.0	77.0	82.0					5																	145537109		2203	4300	6503	SO:0001583	missense	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.922C>T	5.37:g.145537109G>A	ENSP00000377954:p.Arg308Cys		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.R308C	ENST00000394434.2	37	c.922	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762958	0.49574	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.5	4.63	0.57726	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.168977	0.48767	D	0.000176	T	0.51346	0.1669	M	0.65975	2.015	0.58432	D	0.999991	P;B;P	0.47484	0.896;0.012;0.895	P;B;P	0.58520	0.84;0.007;0.796	T	0.53151	-0.8479	10	0.62326	D	0.03	-1.8079	9.7709	0.40589	0.0706:0.0:0.791:0.1384	.	281;262;308	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	C	308;262;254;281	ENSP00000377954:R308C;ENSP00000437791:R262C;ENSP00000426005:R254C;ENSP00000274562:R281C	ENSP00000274562:R281C	R	-	1	0	LARS	145517302	1.000000	0.71417	0.995000	0.50966	0.455000	0.32408	2.558000	0.45879	1.472000	0.48140	0.655000	0.94253	CGT	LARS	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk		0.408	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	G	NM_020117		145537109	-1	no_errors	ENST00000394434	ensembl	human	known	70_37	missense	SNP	0.999	A
LCE1D	353134	genome.wustl.edu	37	1	152770355	152770355	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:152770355T>C	ENST00000326233.6	+	2	128	c.85T>C	c.(85-87)Tgt>Cgt	p.C29R		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	29	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCCCCTAAATGTCCCCCTAA	0.652																																																	0													45.0	46.0	45.0					1																	152770355		2099	3876	5975	SO:0001583	missense	353134				CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"""Late cornified envelopes"""	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.85T>C	1.37:g.152770355T>C	ENSP00000316737:p.Cys29Arg			Missense_Mutation	SNP	NULL	p.C29R	ENST00000326233.6	37	c.85	CCDS1025.1	1	.	.	.	.	.	.	.	.	.	.	T	0.381	-0.928787	0.02359	.	.	ENSG00000172155	ENST00000326233	T	0.04551	3.6	3.2	2.0	0.26442	.	0.205046	0.24722	N	0.036140	T	0.09642	0.0237	M	0.85630	2.765	0.23969	N	0.996318	D	0.69078	0.997	D	0.78314	0.991	T	0.06409	-1.0828	10	0.87932	D	0	.	6.2635	0.20913	0.0:0.0:0.2587:0.7413	.	29	Q5T752	LCE1D_HUMAN	R	29	ENSP00000316737:C29R	ENSP00000316737:C29R	C	+	1	0	LCE1D	151036979	0.987000	0.35691	0.190000	0.23270	0.255000	0.26057	2.123000	0.41996	0.388000	0.25054	0.454000	0.30748	TGT	LCE1D	-	NULL		0.652	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1D	HGNC	protein_coding	OTTHUMT00000034657.2	T	NM_178352		152770355	+1	no_errors	ENST00000326233	ensembl	human	known	70_37	missense	SNP	0.236	C
LCMT1	51451	genome.wustl.edu	37	16	25162906	25162906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:25162906G>T	ENST00000399069.3	+	5	591	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	LCMT1_ENST00000380966.4_Intron|RP11-266L9.2_ENST00000562280.1_RNA|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	146					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CCCCATTCTAGAACTGCATTC	0.433																																					Colon(200;565 2072 24396 47922 50898)												0													85.0	82.0	83.0					16																	25162906		1910	4121	6031	SO:0001587	stop_gained	51451			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.436G>T	16.37:g.25162906G>T	ENSP00000382021:p.Glu146*		A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Nonsense_Mutation	SNP	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1	p.E146*	ENST00000399069.3	37	c.436	CCDS45445.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.829264	0.96996	.	.	ENSG00000205629	ENST00000399069;ENST00000380962	.	.	.	4.71	3.75	0.43078	.	0.149366	0.64402	D	0.000011	.	.	.	.	.	.	0.29869	N	0.826988	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-12.2776	9.0452	0.36343	0.1006:0.0:0.8994:0.0	.	.	.	.	X	146;163	.	ENSP00000370349:E163X	E	+	1	0	LCMT1	25070407	0.998000	0.40836	0.073000	0.20177	0.686000	0.39977	5.136000	0.64783	1.333000	0.45449	0.561000	0.74099	GAA	LCMT1	-	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1		0.433	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	G	NM_016309		25162906	+1	no_errors	ENST00000399069	ensembl	human	known	70_37	nonsense	SNP	0.073	T
LDHAL6CP	121498	genome.wustl.edu	37	12	63398299	63398299	+	lincRNA	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:63398299T>C	ENST00000552996.1	-	0	353				LDHAL6CP_ENST00000550738.1_RNA																							ACATCCAGTTTCCACCATAAT	0.378																																																	0																																												121498																															12.37:g.63398299T>C				RNA	SNP	-	NULL	ENST00000552996.1	37	NULL		12																																																																																			LDHAL6CP	-	-		0.378	RP11-848D3.5-001	KNOWN	basic	lincRNA	LDHAL6CP	HGNC	lincRNA	OTTHUMT00000406731.1	T			63398299	+1	no_errors	ENST00000550738	ensembl	human	known	70_37	rna	SNP	1.000	C
LDHD	197257	genome.wustl.edu	37	16	75150535	75150535	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:75150535C>A	ENST00000450168.2	-	1	123				LDHD_ENST00000300051.4_Intron|RP11-252E2.2_ENST00000563098.1_lincRNA	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						GACTTCTCTTCTCTCCCGGTA	0.627																																																	0													70.0	69.0	69.0					16																	75150535		2198	4300	6498	SO:0001627	intron_variant	197257			AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.72+11G>T	16.37:g.75150535C>A				Missense_Mutation	SNP	NULL	p.E28D	ENST00000450168.2	37	c.84	CCDS45529.1	16																																																																																			LDHD	-	NULL		0.627	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHD	HGNC	protein_coding	OTTHUMT00000434651.1	C	NM_153486		75150535	-1	no_errors	ENST00000569876	ensembl	human	known	70_37	missense	SNP	0.000	A
LECT1	11061	genome.wustl.edu	37	13	53277901	53277901	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:53277901G>A	ENST00000377962.3	-	7	912	c.834C>T	c.(832-834)caC>caT	p.H278H	LECT1_ENST00000448904.2_Silent_p.H277H			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	278					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)		p.H278H(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AGATTCCTTCGTGATCCAGTC	0.448																																																	1	Substitution - coding silent(1)	endometrium(1)											91.0	87.0	88.0					13																	53277901		2203	4300	6503	SO:0001819	synonymous_variant	11061			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.834C>T	13.37:g.53277901G>A			Q5TAM4|Q8TAY6|Q9UM18	Silent	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.H278	ENST00000377962.3	37	c.834	CCDS9437.1	13																																																																																			LECT1	-	NULL		0.448	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LECT1	HGNC	protein_coding	OTTHUMT00000045110.3	G			53277901	-1	no_errors	ENST00000377962	ensembl	human	known	70_37	silent	SNP	0.988	A
LEPR	3953	genome.wustl.edu	37	1	66036405	66036405	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:66036405G>T	ENST00000349533.6	+	4	475	c.290G>T	c.(289-291)aGa>aTa	p.R97I	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.R97I|LEPR_ENST00000371058.1_Missense_Mutation_p.R97I|LEPR_ENST00000371059.3_Missense_Mutation_p.R97I|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.R97I|snoU13_ENST00000459362.1_RNA	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.R97I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAGCAAGATAGAAACTGCTCC	0.343																																																	1	Substitution - Missense(1)	large_intestine(1)											81.0	81.0	81.0					1																	66036405		2203	4300	6503	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.290G>T	1.37:g.66036405G>T	ENSP00000330393:p.Arg97Ile		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R97I	ENST00000349533.6	37	c.290	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	G	6.053	0.378052	0.11466	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55052	0.56;0.58;0.57;0.54;0.56	5.69	2.03	0.26663	.	0.677457	0.15206	N	0.274715	T	0.07369	0.0186	N	0.01352	-0.895	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.09377	0.0;0.0;0.001;0.004	T	0.16453	-1.0402	10	0.36615	T	0.2	-1.6603	2.3012	0.04162	0.598:0.1622:0.0847:0.1551	.	97;97;97;97	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	I	97	ENSP00000340884:R97I;ENSP00000330393:R97I;ENSP00000360099:R97I;ENSP00000360098:R97I;ENSP00000360097:R97I	ENSP00000340884:R97I	R	+	2	0	LEPR	65808993	0.049000	0.20398	0.793000	0.32043	0.106000	0.19336	-0.050000	0.11904	0.089000	0.17243	-1.394000	0.01149	AGA	LEPR	-	NULL		0.343	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	G	NM_002303		66036405	+1	no_errors	ENST00000349533	ensembl	human	known	70_37	missense	SNP	0.969	T
LEPR	3953	genome.wustl.edu	37	1	66088677	66088677	+	Intron	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:66088677A>T	ENST00000349533.6	+	19	2858				LEPR_ENST00000344610.8_Intron|LEPR_ENST00000371058.1_Intron|LEPR_ENST00000371059.3_Intron|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor						negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGCTTTTTCAATTTTTTTTAA	0.318																																																	0													60.0	66.0	64.0					1																	66088677		2203	4300	6503	SO:0001627	intron_variant	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2673+13A>T	1.37:g.66088677A>T			Q6FHL5	RNA	SNP	-	NULL	ENST00000349533.6	37	NULL	CCDS631.1	1																																																																																			LEPR	-	-		0.318	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	A	NM_002303		66088677	+1	no_errors	ENST00000471762	ensembl	human	known	70_37	rna	SNP	0.000	T
LEPREL1	55214	genome.wustl.edu	37	3	189706770	189706770	+	Missense_Mutation	SNP	C	C	T	rs377087463		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:189706770C>T	ENST00000319332.5	-	4	1078	c.881G>A	c.(880-882)cGc>cAc	p.R294H	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R113H	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	294					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)	GCGGCCAGGGCGGGTGGCAAG	0.502																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	104.0	90.0	95.0		338,881	5.6	1.0	3		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LEPREL1	NM_001134418.1,NM_018192.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	113/528,294/709	189706770	1,13005	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.881G>A	3.37:g.189706770C>T	ENSP00000316881:p.Arg294His		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R294H	ENST00000319332.5	37	c.881	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472269	0.84533	0.0	1.16E-4	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.61	5.61	0.85477	.	0.052262	0.85682	D	0.000000	T	0.54838	0.1883	L	0.38531	1.155	0.80722	D	1	P	0.36909	0.573	B	0.26693	0.072	T	0.53968	-0.8363	9	.	.	.	-16.235	18.9929	0.92801	0.0:1.0:0.0:0.0	.	294	Q8IVL5	P3H2_HUMAN	H	294;113;113;113	ENSP00000316881:R294H;ENSP00000408947:R113H;ENSP00000391374:R113H;ENSP00000394326:R113H	.	R	-	2	0	LEPREL1	191189464	0.993000	0.37304	0.986000	0.45419	0.903000	0.53119	3.621000	0.54210	2.799000	0.96334	0.650000	0.86243	CGC	LEPREL1	-	NULL		0.502	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	C	NM_018192		189706770	-1	no_errors	ENST00000319332	ensembl	human	known	70_37	missense	SNP	0.999	T
LEPROTL1	23484	genome.wustl.edu	37	8	29961916	29961916	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:29961916G>A	ENST00000321250.8	+	3	308	c.193G>A	c.(193-195)Gct>Act	p.A65T	LEPROTL1_ENST00000518192.1_Missense_Mutation_p.A88T|LEPROTL1_ENST00000523116.1_Missense_Mutation_p.A65T|LEPROTL1_ENST00000442880.2_Missense_Mutation_p.A65T|LEPROTL1_ENST00000518001.1_Missense_Mutation_p.A4T	NM_015344.2	NP_056159.2	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	65						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TATGAGTAACGCTTGTAAGGA	0.398																																																	0													203.0	183.0	190.0					8																	29961916		2203	4300	6503	SO:0001583	missense	23484			AF063605	CCDS6075.1, CCDS47834.1	8p12	2014-09-11			ENSG00000104660	ENSG00000104660			6555	protein-coding gene	gene with protein product		607338				11342119	Standard	NM_015344		Approved	my047, Vps55	uc003xhx.2	O95214	OTTHUMG00000163820	ENST00000321250.8:c.193G>A	8.37:g.29961916G>A	ENSP00000314625:p.Ala65Thr		E9PHP8|Q9BW48	Missense_Mutation	SNP	pfam_VPS55	p.A65T	ENST00000321250.8	37	c.193	CCDS6075.1	8	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803395	0.90623	.	.	ENSG00000104660	ENST00000321250;ENST00000518001;ENST00000520682;ENST00000442880;ENST00000523116;ENST00000518192	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	L	0.46567	1.45	0.80722	D	1	D;P	0.71674	0.998;0.53	P;B	0.57425	0.82;0.177	T	0.68792	-0.5315	9	0.87932	D	0	.	17.7642	0.88473	0.0:0.0:1.0:0.0	.	65;65	E9PHP8;O95214	.;LERL1_HUMAN	T	65;4;65;65;65;88	.	ENSP00000314625:A65T	A	+	1	0	LEPROTL1	30081458	1.000000	0.71417	0.974000	0.42286	0.987000	0.75469	9.384000	0.97219	2.793000	0.96121	0.591000	0.81541	GCT	LEPROTL1	-	pfam_VPS55		0.398	LEPROTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPROTL1	HGNC	protein_coding	OTTHUMT00000375771.2	G			29961916	+1	no_errors	ENST00000523116	ensembl	human	known	70_37	missense	SNP	1.000	A
LGI2	55203	genome.wustl.edu	37	4	25005856	25005856	+	Silent	SNP	G	G	A	rs151209012		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:25005856G>A	ENST00000382114.4	-	8	1040	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	285						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCTGATCATCGATGAGAATGG	0.463																																																	0													150.0	150.0	150.0					4																	25005856		2203	4300	6503	SO:0001819	synonymous_variant	55203			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.855C>T	4.37:g.25005856G>A			Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.I285	ENST00000382114.4	37	c.855	CCDS3431.1	4																																																																																			LGI2	-	pfam_EPTP		0.463	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1	G			25005856	-1	no_errors	ENST00000382114	ensembl	human	known	70_37	silent	SNP	0.998	A
LHCGR	3973	genome.wustl.edu	37	2	48915735	48915735	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:48915735G>T	ENST00000294954.7	-	11	1222	c.1201C>A	c.(1201-1203)Ctc>Atc	p.L401I	LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.L339I|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.L374I	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	401					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCAAAGGAGAGATTGCACATG	0.443																																																	0													76.0	75.0	75.0					2																	48915735		2203	4300	6503	SO:0001583	missense	3973				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1201C>A	2.37:g.48915735G>T	ENSP00000294954:p.Leu401Ile		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.L401I	ENST00000294954.7	37	c.1201	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466095	0.84425	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.91124	-2.79;-2.79;-2.79	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	H	0.96633	3.855	0.80722	D	1	D	0.71674	0.998	D	0.68039	0.955	D	0.97884	1.0293	9	.	.	.	.	19.2938	0.94114	0.0:0.0:1.0:0.0	.	401	P22888	LSHR_HUMAN	I	339;401;374	ENSP00000344301:L339I;ENSP00000294954:L401I;ENSP00000386033:L374I	.	L	-	1	0	LHCGR	48769239	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.024000	0.88770	2.791000	0.96007	0.655000	0.94253	CTC	LHCGR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.443	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	G	NM_000233.3		48915735	-1	no_errors	ENST00000294954	ensembl	human	known	70_37	missense	SNP	1.000	T
LIFR	3977	genome.wustl.edu	37	5	38506637	38506637	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:38506637G>A	ENST00000263409.4	-	8	1251	c.1089C>T	c.(1087-1089)ggC>ggT	p.G363G	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.G363G	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	363	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TAGCACGTGGGCCCACCAACG	0.413			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													104.0	101.0	102.0					5																	38506637		2203	4300	6503	SO:0001819	synonymous_variant	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1089C>T	5.37:g.38506637G>A			Q6LCD9	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G363	ENST00000263409.4	37	c.1089	CCDS3927.1	5																																																																																			LIFR	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.413	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	G	NM_002310		38506637	-1	no_errors	ENST00000263409	ensembl	human	known	70_37	silent	SNP	0.998	A
LILRB2	10288	genome.wustl.edu	37	19	54783268	54783268	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:54783268T>C	ENST00000391749.4	-	5	861	c.590A>G	c.(589-591)tAt>tGt	p.Y197C	LILRB2_ENST00000391748.1_Missense_Mutation_p.Y197C|LILRB2_ENST00000391746.1_Missense_Mutation_p.Y197C|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Missense_Mutation_p.Y197C|LILRB2_ENST00000434421.1_Missense_Mutation_p.Y81C|MIR4752_ENST00000579672.1_RNA	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	197	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCATAACCATAGCACCTGTG	0.592																																																	0													128.0	123.0	125.0					19																	54783268		2203	4300	6503	SO:0001583	missense	10288			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.590A>G	19.37:g.54783268T>C	ENSP00000375629:p.Tyr197Cys		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y197C	ENST00000391749.4	37	c.590	CCDS12886.1	19	.	.	.	.	.	.	.	.	.	.	T	12.73	2.024193	0.35701	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00808	5.67;5.67;5.67;5.67;5.67	2.58	-0.854	0.10705	Immunoglobulin-like fold (1);	0.650335	0.13555	N	0.379237	T	0.03695	0.0105	M	0.82630	2.6	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.36432	-0.9748	10	0.72032	D	0.01	.	1.9517	0.03368	0.2603:0.3212:0.0:0.4185	.	197;214;197	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	C	197;197;197;197;81	ENSP00000375628:Y197C;ENSP00000319960:Y197C;ENSP00000375629:Y197C;ENSP00000375626:Y197C;ENSP00000410117:Y81C	ENSP00000319960:Y197C	Y	-	2	0	LILRB2	59475080	0.569000	0.26643	0.125000	0.21846	0.065000	0.16274	0.894000	0.28350	-0.150000	0.11195	0.386000	0.25728	TAT	LILRB2	-	NULL		0.592	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	HGNC	protein_coding	OTTHUMT00000139510.1	T			54783268	-1	no_errors	ENST00000391749	ensembl	human	known	70_37	missense	SNP	0.127	C
LILRA2	11027	genome.wustl.edu	37	19	55085931	55085931	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:55085931G>T	ENST00000251377.3	+	4	367	c.234G>T	c.(232-234)aaG>aaT	p.K78N	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.K66N|LILRA2_ENST00000391738.3_Missense_Mutation_p.K78N|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.K78N|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	78	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGCCTGGGAAGAATGGCCAGT	0.532																																																	0													105.0	99.0	101.0					19																	55085931		2203	4300	6503	SO:0001583	missense	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.234G>T	19.37:g.55085931G>T	ENSP00000251377:p.Lys78Asn		O75020	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.K78N	ENST00000251377.3	37	c.234	CCDS46179.1	19	.	.	.	.	.	.	.	.	.	.	G	0.744	-0.775378	0.02951	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64	2.93	-0.629	0.11533	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.550290	0.03695	N	0.247657	T	0.07369	0.0186	N	0.25789	0.76	0.09310	N	1	B;B;B;B;B	0.22211	0.0;0.002;0.001;0.001;0.066	B;B;B;B;B	0.23275	0.0;0.006;0.008;0.005;0.045	T	0.20273	-1.0280	10	0.02654	T	1	.	1.242	0.01965	0.2236:0.4053:0.2304:0.1407	.	78;78;66;78;78	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	N	78;78;78;78;66	ENSP00000388131:K78N;ENSP00000251377:K78N;ENSP00000375618:K78N;ENSP00000251376:K78N;ENSP00000375617:K66N	ENSP00000251376:K78N	K	+	3	2	LILRA2	59777743	0.001000	0.12720	0.014000	0.15608	0.002000	0.02628	-0.061000	0.11693	0.096000	0.17463	-0.448000	0.05591	AAG	LILRA2	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like		0.532	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	G			55085931	+1	no_errors	ENST00000251377	ensembl	human	known	70_37	missense	SNP	0.001	T
LILRB4	11006	genome.wustl.edu	37	19	55175910	55175910	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:55175910G>A	ENST00000391736.1	+	6	944	c.629G>A	c.(628-630)aGt>aAt	p.S210N	LILRB4_ENST00000270452.2_Missense_Mutation_p.S210N|LILRB4_ENST00000391734.3_Missense_Mutation_p.S210N|LILRB4_ENST00000391733.3_Missense_Mutation_p.S210N|LILRB4_ENST00000430952.2_Missense_Mutation_p.S210N	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	210	Ig-like C2-type 2.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TCACACCCCAGTGACCCCCTG	0.612																																																	0													61.0	61.0	61.0					19																	55175910		2203	4300	6503	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.629G>A	19.37:g.55175910G>A	ENSP00000375616:p.Ser210Asn		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	pfam_Immunoglobulin,pfscan_Ig-like	p.S210N	ENST00000391736.1	37	c.629	CCDS12902.1	19	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330560	0.41297	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.01464	4.86;4.86;4.86;4.86;4.86;4.86	2.63	1.55	0.23275	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17152	0.0412	H	0.99197	4.465	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.994	T	0.10177	-1.0641	9	0.87932	D	0	.	5.3837	0.16206	0.1731:0.0:0.8269:0.0	.	210;210;210;210;210	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	N	210	ENSP00000375616:S210N;ENSP00000270452:S210N;ENSP00000408995:S210N;ENSP00000375614:S210N;ENSP00000375613:S210N;ENSP00000401962:S210N	ENSP00000270452:S210N	S	+	2	0	LILRB4	59867722	0.310000	0.24527	0.047000	0.18901	0.029000	0.11900	3.342000	0.52159	0.414000	0.25790	0.400000	0.26472	AGT	LILRB4	-	pfscan_Ig-like		0.612	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	HGNC	protein_coding	OTTHUMT00000141127.3	G			55175910	+1	no_errors	ENST00000270452	ensembl	human	known	70_37	missense	SNP	0.376	A
LIMS1	3987	genome.wustl.edu	37	2	109237831	109237831	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:109237831A>C	ENST00000393310.1	+	1	163				LIMS1_ENST00000409441.1_Missense_Mutation_p.K7N|LIMS1_ENST00000544547.1_Intron|LIMS1_ENST00000332345.6_Intron|LIMS1_ENST00000410093.1_Intron	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1						cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TACAGCTTAAAGAGCTTTCAC	0.473																																																	0																																										SO:0001627	intron_variant	3987				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.-5+32747A>C	2.37:g.109237831A>C			B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM	p.K7N	ENST00000393310.1	37	c.21	CCDS2078.1	2	.	.	.	.	.	.	.	.	.	.	A	17.18	3.324952	0.60634	.	.	ENSG00000169756	ENST00000409441	T	0.32753	1.44	4.82	3.42	0.39159	.	.	.	.	.	T	0.47563	0.1452	.	.	.	0.80722	D	1	P	0.51653	0.947	D	0.67231	0.95	T	0.35649	-0.9780	8	0.41790	T	0.15	.	6.7415	0.23439	0.753:0.0:0.247:0.0	.	7	B7Z907	.	N	7	ENSP00000387264:K7N	ENSP00000387264:K7N	K	+	3	2	LIMS1	108604263	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.734000	0.38166	0.768000	0.33290	0.459000	0.35465	AAA	LIMS1	-	NULL		0.473	LIMS1-001	KNOWN	basic|CCDS	protein_coding	LIMS1	HGNC	protein_coding	OTTHUMT00000253596.1	A	NM_004987		109237831	+1	no_errors	ENST00000409441	ensembl	human	known	70_37	missense	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	13	19315143	19315143	+	IGR	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:19315143C>A								LINC00418 (21274 upstream) : RP11-38M15.11 (118823 downstream)																							ctcagggatccttccaagggc	0.562																																																	0																																										SO:0001628	intergenic_variant	100874164																															13.37:g.19315143C>A				RNA	SNP	-	NULL		37	NULL		13																																																																																			LINC00417	-	-	0	0.562					LINC00417	HGNC			C			19315143	-1	no_errors	ENST00000453176	ensembl	human	known	70_37	rna	SNP	0.176	A
LINC00521	256369	genome.wustl.edu	37	14	94464410	94464410	+	RNA	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:94464410C>T	ENST00000444118.1	+	0	90					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521																		TGTCCCTTTTCGGTCTGTCTT	0.572																																																	0																																												256369			BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94464410C>T			Q8N7S1	RNA	SNP	-	NULL	ENST00000444118.1	37	NULL		14																																																																																			LINC00521	-	-		0.572	LINC00521-003	KNOWN	basic	processed_transcript	LINC00521	HGNC	processed_transcript	OTTHUMT00000346916.1	C			94464410	+1	no_errors	ENST00000314629	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00242	401288	genome.wustl.edu	37	6	170201333	170201333	+	lincRNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:170201333G>T	ENST00000437615.1	-	0	0				LINC00574_ENST00000420557.2_lincRNA	NR_026781.1		Q5T6M2	CF122_HUMAN	long intergenic non-protein coding RNA 242																		TTTGCCAAGAGAATGGTCCTG	0.607																																																	0													103.0	102.0	102.0					6																	170201333		692	1591	2283			80069			AK056013		6q28	2012-10-12	2011-08-11	2011-08-11	ENSG00000229214	ENSG00000229214		"""Long non-coding RNAs"""	21249	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 122"", ""non-protein coding RNA 242"""	C6orf122, NCRNA00242			Standard	NR_026781		Approved	FLJ31451, dJ266L20.5	uc003qxj.1	Q5T6M2	OTTHUMG00000016064		6.37:g.170201333G>T			Q0VD89|Q96N37	RNA	SNP	-	NULL	ENST00000437615.1	37	NULL		6																																																																																			LINC00574	-	-		0.607	LINC00242-001	KNOWN	basic	lincRNA	LINC00574	HGNC	lincRNA	OTTHUMT00000043231.2	G	NR_026781		170201333	+1	no_errors	ENST00000420557	ensembl	human	known	70_37	rna	SNP	0.001	T
LINC00634	339674	genome.wustl.edu	37	22	42354487	42354488	+	RNA	INS	-	-	GAGA	rs149263017|rs376900632	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:42354487_42354488insGAGA	ENST00000381348.4	+	0	1060_1061					NR_024355.1				long intergenic non-protein coding RNA 634																		GGGTTGGTGAGgagagagagag	0.614														1250	0.249601	0.2897	0.2983	5008	,	,		18788	0.0774		0.3151	False		,,,				2504	0.271																0																																												339674					22q13.2	2012-10-12			ENSG00000205704	ENSG00000205704		"""Long non-coding RNAs"""	27930	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_024355		Approved				OTTHUMG00000151274		22.37:g.42354492_42354495dupGAGA				RNA	INS	-	NULL	ENST00000381348.4	37	NULL		22																																																																																			LINC00634	-	-		0.614	LINC00634-002	KNOWN	basic|exp_conf	processed_transcript	LINC00634	HGNC	pseudogene	OTTHUMT00000322049.1	-	NR_024355		42354488	+1	no_errors	ENST00000381348	ensembl	human	known	70_37	rna	INS	0.030:0.088	GAGA
LINC00643	646113	genome.wustl.edu	37	14	62584910	62584910	+	lincRNA	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:62584910G>A	ENST00000554252.1	-	0	0				LINC00643_ENST00000334389.4_lincRNA|RP11-355I22.6_ENST00000553426.1_lincRNA																							GCCCTTTAAAGAAATGCTGTC	0.383																																																	0																																												646113																															14.37:g.62584910G>A				RNA	SNP	-	NULL	ENST00000554252.1	37	NULL		14																																																																																			LINC00643	-	-		0.383	RP11-355I22.2-001	KNOWN	basic	lincRNA	LINC00643	HGNC	lincRNA	OTTHUMT00000411702.1	G			62584910	+1	no_errors	ENST00000555518	ensembl	human	known	70_37	rna	SNP	0.002	A
LINGO2	158038	genome.wustl.edu	37	9	27949151	27949151	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:27949151G>A	ENST00000379992.2	-	6	1968	c.1519C>T	c.(1519-1521)Cgt>Tgt	p.R507C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R507C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	507			R -> H (in dbSNP:rs17506843).			integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TAAAGAAAACGATCTGAAGCG	0.463																																																	0													140.0	137.0	138.0					9																	27949151		2203	4300	6503	SO:0001583	missense	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1519C>T	9.37:g.27949151G>A	ENSP00000369328:p.Arg507Cys		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R507C	ENST00000379992.2	37	c.1519	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789133	0.49997	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.59364	0.27;0.27	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.42539	0.1207	N	0.08118	0	0.58432	D	0.999999	P	0.51933	0.949	P	0.46339	0.513	T	0.35276	-0.9795	9	.	.	.	.	14.9014	0.70681	0.0:0.0:0.8568:0.1432	.	507	Q7L985	LIGO2_HUMAN	C	507	ENSP00000369328:R507C;ENSP00000310126:R507C	.	R	-	1	0	LINGO2	27939151	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.081000	0.57627	2.769000	0.95229	0.655000	0.94253	CGT	LINGO2	-	NULL		0.463	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	G	NM_152570		27949151	-1	no_errors	ENST00000308675	ensembl	human	known	70_37	missense	SNP	1.000	A
LINS	55180	genome.wustl.edu	37	15	101120525	101120525	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:101120525T>G	ENST00000314742.8	-	3	654	c.432A>C	c.(430-432)ttA>ttC	p.L144F	LINS_ENST00000560133.1_Missense_Mutation_p.L25F|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.L144F	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	144										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CCATGTGAGATAACAATTTAT	0.284																																																	0													49.0	51.0	50.0					15																	101120525		2203	4299	6502	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.432A>C	15.37:g.101120525T>G	ENSP00000318423:p.Leu144Phe		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	NULL	p.L144F	ENST00000314742.8	37	c.432	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146675	0.57151	.	.	ENSG00000140471	ENST00000314742	T	0.21932	1.98	5.81	1.0	0.19881	.	0.073236	0.56097	D	0.000029	T	0.37073	0.0990	M	0.72894	2.215	0.35469	D	0.797166	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.73708	0.956;0.976;0.981	T	0.41538	-0.9503	10	0.72032	D	0.01	-6.1468	5.3816	0.16194	0.0:0.3659:0.1483:0.4858	.	25;144;144	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	F	144	ENSP00000318423:L144F	ENSP00000318423:L144F	L	-	3	2	LINS	98938048	0.154000	0.22792	0.959000	0.39883	0.528000	0.34623	-0.795000	0.04580	0.175000	0.19841	0.528000	0.53228	TTA	LINS	-	NULL		0.284	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	T	NM_018148		101120525	-1	no_errors	ENST00000314742	ensembl	human	known	70_37	missense	SNP	0.997	G
LINS	55180	genome.wustl.edu	37	15	101121044	101121044	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:101121044T>G	ENST00000314742.8	-	2	226	c.4A>C	c.(4-6)Aaa>Caa	p.K2Q	LINS_ENST00000560133.1_Missense_Mutation_p.K2Q|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.K2Q	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	2										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CAGAAAACTTTCATTTTGACT	0.348																																																	0													21.0	21.0	21.0					15																	101121044		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.4A>C	15.37:g.101121044T>G	ENSP00000318423:p.Lys2Gln		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	NULL	p.K2Q	ENST00000314742.8	37	c.4	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369050	0.42003	.	.	ENSG00000140471	ENST00000314742	T	0.22134	1.97	5.63	-1.85	0.07784	.	0.558669	0.17398	N	0.175674	T	0.13628	0.0330	L	0.44542	1.39	0.20489	N	0.999898	B;B;B	0.23806	0.091;0.091;0.082	B;B;B	0.23018	0.018;0.026;0.043	T	0.30446	-0.9978	10	0.20046	T	0.44	-2.24	7.4831	0.27417	0.0:0.4948:0.1351:0.3701	.	2;2;2	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	Q	2	ENSP00000318423:K2Q	ENSP00000318423:K2Q	K	-	1	0	LINS	98938567	0.767000	0.28508	0.472000	0.27241	0.596000	0.36781	0.180000	0.16860	-0.249000	0.09569	-0.321000	0.08615	AAA	LINS	-	NULL		0.348	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	T	NM_018148		101121044	-1	no_errors	ENST00000314742	ensembl	human	known	70_37	missense	SNP	0.476	G
LIPE	3991	genome.wustl.edu	37	19	42930555	42930555	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:42930555C>T	ENST00000244289.4	-	1	1023	c.747G>A	c.(745-747)acG>acA	p.T249T	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	249					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTCCACCCATCGTGGCTGGAG	0.493																																																	0													115.0	112.0	113.0					19																	42930555		2203	4300	6503	SO:0001819	synonymous_variant	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.747G>A	19.37:g.42930555C>T			Q3LRT2|Q6NSL7	Silent	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.T249	ENST00000244289.4	37	c.747	CCDS12607.1	19																																																																																			LIPE	-	NULL		0.493	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1	C	NM_005357		42930555	-1	no_errors	ENST00000244289	ensembl	human	known	70_37	silent	SNP	0.000	T
LIPH	200879	genome.wustl.edu	37	3	185232243	185232243	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:185232243T>G	ENST00000296252.4	-	8	1190	c.1049A>C	c.(1048-1050)aAa>aCa	p.K350T	LIPH_ENST00000424591.2_Missense_Mutation_p.K316T	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	350					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GTCTCTCAATTTGATGGTAAT	0.378																																																	0													328.0	281.0	297.0					3																	185232243		2203	4299	6502	SO:0001583	missense	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.1049A>C	3.37:g.185232243T>G	ENSP00000296252:p.Lys350Thr		A2IBA7|Q8TEC7	Missense_Mutation	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.K350T	ENST00000296252.4	37	c.1049	CCDS3272.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.88|13.88	2.369248|2.369248	0.42003|0.42003	.|.	.|.	ENSG00000163898|ENSG00000163898	ENST00000296252;ENST00000424591|ENST00000435679	D;D|.	0.88664|.	-2.41;-2.19|.	4.87|4.87	2.49|2.49	0.30216|0.30216	.|.	0.175280|.	0.64402|.	D|.	0.000013|.	T|T	0.61451|0.61451	0.2348|0.2348	M|M	0.76328|0.76328	2.33|2.33	0.37589|0.37589	D|D	0.92012|0.92012	D;D|.	0.65815|.	0.995;0.991|.	P;P|.	0.59546|.	0.859;0.855|.	T|T	0.60591|0.60591	-0.7233|-0.7233	10|5	0.37606|.	T|.	0.19|.	-17.4026|-17.4026	4.4172|4.4172	0.11463|0.11463	0.1464:0.1676:0.0:0.686|0.1464:0.1676:0.0:0.686	.|.	316;350|.	A2IBA6;Q8WWY8|.	.;LIPH_HUMAN|.	T|H	350;316|28	ENSP00000296252:K350T;ENSP00000396384:K316T|.	ENSP00000296252:K350T|.	K|N	-|-	2|1	0|0	LIPH|LIPH	186714937|186714937	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.963000|0.963000	0.63663|0.63663	2.603000|2.603000	0.46266|0.46266	0.360000|0.360000	0.24265|0.24265	0.379000|0.379000	0.24179|0.24179	AAA|AAT	LIPH	-	superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH		0.378	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	T			185232243	-1	no_errors	ENST00000296252	ensembl	human	known	70_37	missense	SNP	0.983	G
LMOD1	25802	genome.wustl.edu	37	1	201869359	201869359	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:201869359T>C	ENST00000367288.4	-	2	1028	c.782A>G	c.(781-783)aAc>aGc	p.N261S	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	261	8 X approximate tandem repeats.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGTGTCTGTGTTCCCAGTTCC	0.438																																																	0													144.0	141.0	142.0					1																	201869359		2002	4167	6169	SO:0001583	missense	25802			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.782A>G	1.37:g.201869359T>C	ENSP00000356257:p.Asn261Ser		B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.N261S	ENST00000367288.4	37	c.782	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	T	1.777	-0.483015	0.04383	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.91686	-2.89	4.71	-3.25	0.05079	.	1.934260	0.02961	N	0.143080	T	0.77011	0.4068	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.73196	-0.4059	10	0.05351	T	0.99	-4.0165	1.3714	0.02211	0.1456:0.3395:0.1487:0.3663	.	210;261	B4E3S9;P29536	.;LMOD1_HUMAN	S	261;261;210	ENSP00000356257:N261S	ENSP00000356257:N261S	N	-	2	0	LMOD1	200135982	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.731000	0.04909	-0.786000	0.04516	-0.290000	0.09829	AAC	LMOD1	-	NULL		0.438	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	T			201869359	-1	no_errors	ENST00000367288	ensembl	human	known	70_37	missense	SNP	0.000	C
LMTK2	22853	genome.wustl.edu	37	7	97821550	97821550	+	Silent	SNP	G	G	A	rs371094313		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:97821550G>A	ENST00000297293.5	+	11	2066	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	591					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGCTCACGGCGCTCAGGAGCG	0.517																																																	0								G		0,4406		0,0,2203	52.0	51.0	51.0		1773	-12.2	0.0	7		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LMTK2	NM_014916.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		591/1504	97821550	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1773G>A	7.37:g.97821550G>A			A4D272|Q75MG7|Q9UPS3	Silent	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A591	ENST00000297293.5	37	c.1773	CCDS5654.1	7																																																																																			LMTK2	-	NULL		0.517	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	G	NM_014916		97821550	+1	no_errors	ENST00000297293	ensembl	human	known	70_37	silent	SNP	0.000	A
LMX1B	4010	genome.wustl.edu	37	9	129453255	129453255	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:129453255T>G	ENST00000373474.4	+	3	474	c.467T>G	c.(466-468)tTc>tGc	p.F156C	LMX1B_ENST00000526117.1_Missense_Mutation_p.F156C|LMX1B_ENST00000425646.2_Missense_Mutation_p.F133C|LMX1B_ENST00000355497.5_Missense_Mutation_p.F156C|LMX1B_ENST00000561065.1_Missense_Mutation_p.F133C			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	156	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GGCGACGAATTCGTGCTCAAG	0.647									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)												0													85.0	65.0	72.0					9																	129453255		2203	4300	6503	SO:0001583	missense	4010	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.467T>G	9.37:g.129453255T>G	ENSP00000362573:p.Phe156Cys		F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.F156C	ENST00000373474.4	37	c.467	CCDS55342.1	9	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452452	0.63290	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	4.91	4.91	0.64330	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.92163	0.7515	M	0.66939	2.045	0.80722	D	1	B;D;D	0.89917	0.365;1.0;1.0	B;D;D	0.97110	0.397;1.0;0.999	D	0.92902	0.6340	10	0.72032	D	0.01	.	13.7103	0.62665	0.0:0.0:0.0:1.0	.	133;133;156	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	C	156;156;156;133	ENSP00000436930:F156C;ENSP00000362573:F156C;ENSP00000347684:F156C;ENSP00000390923:F133C	ENSP00000347684:F156C	F	+	2	0	LMX1B	128493076	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	8.030000	0.88816	1.819000	0.53055	0.402000	0.26972	TTC	LMX1B	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.647	LMX1B-002	KNOWN	basic|CCDS	protein_coding	LMX1B	HGNC	protein_coding	OTTHUMT00000054123.2	T			129453255	+1	no_errors	ENST00000355497	ensembl	human	known	70_37	missense	SNP	1.000	G
TMC6	11322	genome.wustl.edu	37	17	76105446	76105446	+	IGR	SNP	C	C	T	rs547324656	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:76105446C>T	ENST00000590602.1	-	0	5268				TNRC6C-AS1_ENST00000589217.1_RNA			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6						ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGAAAACCTACGCAGGATCCA	0.562													C|||	3	0.000599042	0.0	0.0	5008	,	,		20520	0.003		0.0	False		,,,				2504	0.0																0																																										SO:0001628	intergenic_variant	100131096			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466		17.37:g.76105446C>T			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	RNA	SNP	-	NULL	ENST00000590602.1	37	NULL	CCDS32748.1	17																																																																																			RP11-153A23.6	-	-		0.562	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LOC100131096	Clone_based_vega_gene	protein_coding	OTTHUMT00000437146.1	C			76105446	-1	no_errors	ENST00000374976	ensembl	human	known	70_37	rna	SNP	0.000	T
TRPA1	8989	genome.wustl.edu	37	8	72967862	72967862	+	Intron	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:72967862T>C	ENST00000262209.4	-	12	1572				RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1						calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTTCATATTTTCAAGGCAAAT	0.388																																																	0													44.0	45.0	44.0					8																	72967862		2203	4298	6501	SO:0001627	intron_variant	100132891			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1365-27A>G	8.37:g.72967862T>C			A6NIN6	RNA	SNP	-	NULL	ENST00000262209.4	37	NULL	CCDS34908.1	8																																																																																			RP11-383H13.1	-	-		0.388	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100132891	Clone_based_vega_gene	protein_coding	OTTHUMT00000379079.2	T	NM_007332		72967862	+1	no_errors	ENST00000457356	ensembl	human	known	70_37	rna	SNP	0.000	C
KCTD21	283219	genome.wustl.edu	37	11	77884746	77884746	+	3'UTR	SNP	C	C	T	rs576966487		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:77884746C>T	ENST00000340067.3	-	0	1133				KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21						protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GCACCACTGGCGAGATGCCCT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18948	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	100289388			AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.*72G>A	11.37:g.77884746C>T			B4DTR0	RNA	SNP	-	NULL	ENST00000340067.3	37	NULL	CCDS31645.1	11																																																																																			RP11-705O3.1	-	-		0.493	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100289388	Clone_based_vega_gene	protein_coding	OTTHUMT00000390057.1	C	NM_001029859		77884746	+1	no_errors	ENST00000530261	ensembl	human	known	70_37	rna	SNP	0.000	T
SMG1P7	100506060	genome.wustl.edu	37	16	70253659	70253659	+	RNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:70253659G>T	ENST00000581050.1	-	0	1715					NR_033959.1																						agacatgttagaactcatcaa	0.348																																																	0																																												100506060																															16.37:g.70253659G>T				RNA	SNP	-	NULL	ENST00000581050.1	37	NULL		16																																																																																			RP11-296I10.6	-	-		0.348	RP11-296I10.6-006	KNOWN	basic	processed_transcript	LOC100506060	Clone_based_vega_gene	pseudogene	OTTHUMT00000441629.1	G			70253659	-1	no_errors	ENST00000573141	ensembl	human	known	70_37	rna	SNP	0.002	T
MAMDC2	256691	genome.wustl.edu	37	9	72785288	72785288	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:72785288C>T	ENST00000377182.4	+	11	2115				MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000420573.1_RNA|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2_ENST00000460688.1_Intron|MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2						peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GCCTCTCCATCGCATGGCATA	0.532																																																	0																																										SO:0001627	intron_variant	100507244			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1499-107C>T	9.37:g.72785288C>T			Q5VW47|Q8WX43|Q96BM4	RNA	SNP	-	NULL	ENST00000377182.4	37	NULL	CCDS6631.1	9																																																																																			RP11-195E11.2	-	-		0.532	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100507244	Clone_based_vega_gene	protein_coding	OTTHUMT00000052600.1	C	NM_153267		72785288	-1	no_errors	ENST00000448377	ensembl	human	known	70_37	rna	SNP	0.000	T
LOC100507377	100507377	genome.wustl.edu	37	12	74686398	74686398	+	lincRNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:74686398C>A	ENST00000515416.2	-	0	4																											GCCTTCACCACTGAGTAGTTC	0.632																																																	0																																												100507377																															12.37:g.74686398C>A				RNA	SNP	-	NULL	ENST00000515416.2	37	NULL		12																																																																																			RP11-81H3.2	-	-		0.632	RP11-81H3.2-001	KNOWN	basic	lincRNA	LOC100507377	Clone_based_vega_gene	lincRNA	OTTHUMT00000405900.1	C			74686398	-1	no_errors	ENST00000515416	ensembl	human	known	70_37	rna	SNP	0.004	A
TRIM7	81786	genome.wustl.edu	37	5	180625263	180625263	+	Intron	SNP	G	G	C	rs188037223	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:180625263G>C	ENST00000274773.7	-	6	1050				TRIM7_ENST00000504241.1_Intron|TRIM7_ENST00000393315.1_Intron|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000422067.2_Intron|CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Intron|CTC-338M12.6_ENST00000514784.1_RNA|TRIM7_ENST00000361809.3_Intron|CTC-338M12.6_ENST00000512508.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7							cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|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)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CGACACGGGAGATTATATGGC	0.532																																					Esophageal Squamous(128;2258 2308 35507 48647)												0													113.0	98.0	103.0					5																	180625263		2203	4300	6503	SO:0001627	intron_variant	100507546			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.989-45C>G	5.37:g.180625263G>C			A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	RNA	SNP	-	NULL	ENST00000274773.7	37	NULL	CCDS4462.1	5																																																																																			CTC-338M12.6	-	-		0.532	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100507546	Clone_based_vega_gene	protein_coding	OTTHUMT00000253569.3	G	NM_203296		180625263	+1	no_errors	ENST00000502812	ensembl	human	putative	70_37	rna	SNP	0.000	C
TIMP2	7077	genome.wustl.edu	37	17	76886990	76886990	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:76886990G>T	ENST00000262768.7	-	2	429				TIMP2_ENST00000536189.2_Intron|DDC8_ENST00000322630.2_Silent_p.I532I	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2						aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CTTTGTAGTGGATTTCCAAGC	0.502																																																	0																																										SO:0001627	intron_variant	100653515				CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.131-16989C>A	17.37:g.76886990G>T			Q16121|Q93006|Q9UDF7	Silent	SNP	NULL	p.I532	ENST00000262768.7	37	c.1596	CCDS11758.1	17																																																																																			CTD-2373H9.6	-	NULL		0.502	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100653515	Clone_based_vega_gene	protein_coding	OTTHUMT00000335662.1	G	NM_003255		76886990	-1	no_errors	ENST00000322630	ensembl	human	putative	70_37	silent	SNP	0.000	T
POTEB2	100287399	genome.wustl.edu	37	15	21071460	21071460	+	Missense_Mutation	SNP	C	C	T	rs546964009	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:21071460C>T	ENST00000454856.4	-	1	183	c.151G>A	c.(151-153)Gac>Aac	p.D51N		NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	51																	ATAAAGGAGTCGTCATGGTCT	0.597													C|||	2123	0.423922	0.4236	0.3804	5008	,	,		19650	0.4633		0.4155	False		,,,				2504	0.4233																0													1.0	1.0	1.0					15																	21071460		36	159	195	SO:0001583	missense	100996331				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.151G>A	15.37:g.21071460C>T	ENSP00000456953:p.Asp51Asn			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.D51N	ENST00000454856.4	37	c.151	CCDS59248.1	15																																																																																			POTEB	-	NULL		0.597	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100996331	Uniprot_genename	protein_coding	OTTHUMT00000471435.1	C			21071460	-1	no_errors	ENST00000454856	ensembl	human	known	70_37	missense	SNP	0.034	T
LOC154761	154761	genome.wustl.edu	37	7	143510107	143510107	+	RNA	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:143510107T>G	ENST00000494978.1	-	0	1471					NR_015421.1																						GGAAGCTATCTCGAGCCCCCG	0.572																																																	0																																												154761																															7.37:g.143510107T>G				RNA	SNP	-	NULL	ENST00000494978.1	37	NULL		7																																																																																			RP11-61L23.2	-	-		0.572	RP11-61L23.2-003	PUTATIVE	basic	processed_transcript	LOC154761	Clone_based_vega_gene	pseudogene	OTTHUMT00000349573.1	T			143510107	-1	no_errors	ENST00000481651	ensembl	human	putative	70_37	rna	SNP	0.333	G
AADACL2-AS1	101928142	genome.wustl.edu	37	3	151491248	151491248	+	RNA	SNP	C	C	A	rs527415292	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:151491248C>A	ENST00000483843.2	-	0	499				RP11-454C18.2_ENST00000475855.1_RNA|RP11-64D22.2_ENST00000483636.1_RNA																							GGGAATCAATCATTTCATGAA	0.358																																																	0																																												201651																															3.37:g.151491248C>A				RNA	SNP	-	NULL	ENST00000483843.2	37	NULL		3																																																																																			RP11-64D22.2	-	-		0.358	RP11-454C18.2-001	KNOWN	basic	antisense	LOC201651	Clone_based_vega_gene	antisense	OTTHUMT00000357888.2	C			151491248	+1	no_errors	ENST00000471766	ensembl	human	known	70_37	rna	SNP	0.113	A
LOC645752	645752	genome.wustl.edu	37	15	78213884	78213884	+	lincRNA	SNP	C	C	T	rs551585195		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:78213884C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTCCCACCTTCGAAGTGTCGG	0.488																																																	0																																												645752																															15.37:g.78213884C>T				RNA	SNP	-	NULL	ENST00000565869.1	37	NULL		15																																																																																			RP11-114H24.2	-	-		0.488	RP11-114H24.7-001	KNOWN	basic	lincRNA	LOC645752	Clone_based_vega_gene	lincRNA	OTTHUMT00000421587.1	C			78213884	-1	no_errors	ENST00000567226	ensembl	human	known	70_37	rna	SNP	1.000	T
LOC645752	645752	genome.wustl.edu	37	15	78213936	78213936	+	lincRNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:78213936C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TCAAGTCTGCCTTTTCCAATG	0.478																																																	0																																												645752																															15.37:g.78213936C>A				RNA	SNP	-	NULL	ENST00000565869.1	37	NULL		15																																																																																			RP11-114H24.2	-	-		0.478	RP11-114H24.7-001	KNOWN	basic	lincRNA	LOC645752	Clone_based_vega_gene	lincRNA	OTTHUMT00000421587.1	C			78213936	-1	no_errors	ENST00000567226	ensembl	human	known	70_37	rna	SNP	0.961	A
IGSF9B	22997	genome.wustl.edu	37	11	133781791	133781791	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:133781791C>A	ENST00000533871.2	-	19	4325	c.4095G>T	c.(4093-4095)aaG>aaT	p.K1365N	IGSF9B_ENST00000564347.1_5'UTR	NM_001277285.1	NP_001264214.1	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	0					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGGATCGTTTCTTTGACTTCG	0.572																																																	0																																										SO:0001583	missense	646543			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000533871.2:c.4095G>T	11.37:g.133781791C>A	ENSP00000436552:p.Lys1365Asn		G5EA26	Missense_Mutation	SNP	NULL	p.K47N	ENST00000533871.2	37	c.141		11																																																																																			RP11-259P6.1	-	NULL		0.572	IGSF9B-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	LOC646543	Clone_based_vega_gene	protein_coding	OTTHUMT00000471431.1	C	XM_290502		133781791	-1	no_errors	ENST00000564347	ensembl	human	putative	70_37	missense	SNP	1.000	A
NPIPB6	728741	genome.wustl.edu	37	16	28354389	28354389	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:28354389A>G	ENST00000532254.1	-	7	1502	c.817T>C	c.(817-819)Tct>Cct	p.S273P	NPIPB6_ENST00000533640.1_Missense_Mutation_p.S255P	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	273	Pro-rich.																TCAGTTATAGAATGTTGTTGA	0.498																																																	0																																										SO:0001583	missense	728741				CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.817T>C	16.37:g.28354389A>G	ENSP00000431871:p.Ser273Pro			Missense_Mutation	SNP	pfam_NPIP	p.S273P	ENST00000532254.1	37	c.817		16	.	.	.	.	.	.	.	.	.	.	-	8.853	0.945032	0.18356	.	.	ENSG00000198156	ENST00000533640;ENST00000532254	T;T	0.56275	0.47;0.47	.	.	.	.	.	.	.	.	T	0.59824	0.2222	L	0.55481	1.735	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.68621	0.926;0.959	T	0.49579	-0.8925	7	0.30854	T	0.27	.	.	.	.	.	273;255	E9PJ23;E9PS57	.;.	P	255;273	ENSP00000435924:S255P;ENSP00000431871:S273P	ENSP00000431871:S273P	S	-	1	0	RP11-57A19.3	28261890	0.033000	0.19621	0.033000	0.17914	0.033000	0.12548	0.061000	0.14366	0.056000	0.16144	0.055000	0.15244	TCT	A-575C2.4	-	pfam_NPIP		0.498	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	LOC728741	Uniprot_genename	protein_coding	OTTHUMT00000389133.1	A	XM_001717652		28354389	-1	no_errors	ENST00000532254	ensembl	human	novel	70_37	missense	SNP	0.033	G
TRY2P	207147	genome.wustl.edu	37	7	141969373	141969373	+	RNA	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:141969373G>A	ENST00000334288.5	-	0	768					NR_036483.1																						TCATAGCAGCGATTTCCATTA	0.438																																																	0																																												730441																															7.37:g.141969373G>A				RNA	SNP	-	NULL	ENST00000334288.5	37	NULL		7																																																																																			U66059.29	-	-		0.438	U66059.29-002	KNOWN	basic	processed_transcript	LOC730441	Clone_based_vega_gene	pseudogene	OTTHUMT00000351332.2	G			141969373	-1	no_errors	ENST00000334288	ensembl	human	known	70_37	rna	SNP	0.000	A
LPCAT2	54947	genome.wustl.edu	37	16	55562474	55562474	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:55562474G>A	ENST00000262134.5	+	3	681	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	166					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						ATGGTATCTCGAAATGAGAAT	0.378																																																	0													171.0	155.0	160.0					16																	55562474		2198	4300	6498	SO:0001583	missense	54947			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.497G>A	16.37:g.55562474G>A	ENSP00000262134:p.Arg166Gln		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.R166Q	ENST00000262134.5	37	c.497	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972931	0.74246	.	.	ENSG00000087253	ENST00000262134	D	0.93247	-3.19	5.8	5.8	0.92144	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.93822	0.8024	M	0.74881	2.28	0.58432	D	0.999996	P	0.47253	0.892	P	0.45913	0.497	D	0.91668	0.5348	10	0.15066	T	0.55	-6.0514	20.0553	0.97649	0.0:0.0:1.0:0.0	.	166	Q7L5N7	PCAT2_HUMAN	Q	166	ENSP00000262134:R166Q	ENSP00000262134:R166Q	R	+	2	0	LPCAT2	54119975	1.000000	0.71417	0.215000	0.23724	0.251000	0.25915	8.661000	0.91125	2.754000	0.94517	0.585000	0.79938	CGA	LPCAT2	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase		0.378	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	G	NM_017839		55562474	+1	no_errors	ENST00000262134	ensembl	human	known	70_37	missense	SNP	0.670	A
LPCAT4	254531	genome.wustl.edu	37	15	34654791	34654791	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:34654791A>C	ENST00000314891.6	-	9	1044	c.867T>G	c.(865-867)gtT>gtG	p.V289V	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	289					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TGACCCTCTGAACATTGTTGG	0.547																																																	0													67.0	64.0	65.0					15																	34654791		2201	4298	6499	SO:0001819	synonymous_variant	254531			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.867T>G	15.37:g.34654791A>C			A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.V289	ENST00000314891.6	37	c.867	CCDS32191.1	15																																																																																			LPCAT4	-	NULL		0.547	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	HGNC	protein_coding	OTTHUMT00000418028.2	A	NM_153613		34654791	-1	no_errors	ENST00000314891	ensembl	human	known	70_37	silent	SNP	1.000	C
LPHN2	23266	genome.wustl.edu	37	1	82302631	82302631	+	5'UTR	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:82302631C>A	ENST00000370728.1	+	0	607				LPHN2_ENST00000319517.6_5'UTR|LPHN2_ENST00000370725.1_5'UTR|LPHN2_ENST00000335786.5_5'UTR|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370730.1_5'UTR|LPHN2_ENST00000394879.1_5'UTR|LPHN2_ENST00000370723.1_5'UTR|LPHN2_ENST00000359929.3_5'UTR|LPHN2_ENST00000370717.2_5'UTR|LPHN2_ENST00000370721.1_5'UTR|LPHN2_ENST00000370713.1_5'UTR|LPHN2_ENST00000271029.4_5'UTR|LPHN2_ENST00000370727.1_5'UTR|LPHN2_ENST00000370715.1_5'UTR			O95490	LPHN2_HUMAN	latrophilin 2						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)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAACTAGATTCATTAAGGAAT	0.348																																																	0													94.0	94.0	94.0					1																	82302631		2203	4299	6502	SO:0001623	5_prime_UTR_variant	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.-39C>A	1.37:g.82302631C>A			A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	RNA	SNP	-	NULL	ENST00000370728.1	37	NULL		1																																																																																			LPHN2	-	-		0.348	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	C	NM_012302		82302631	+1	no_errors	ENST00000469377	ensembl	human	known	70_37	rna	SNP	1.000	A
LRCH2	57631	genome.wustl.edu	37	X	114391210	114391210	+	Missense_Mutation	SNP	G	G	T	rs201936828		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:114391210G>T	ENST00000317135.8	-	12	1514	c.1484C>A	c.(1483-1485)tCt>tAt	p.S495Y	LRCH2_ENST00000538422.1_Missense_Mutation_p.S495Y	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	495										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TCTCATCACAGAAGTTGAATG	0.244																																																	0													39.0	33.0	35.0					X																	114391210		1718	3867	5585	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1484C>A	X.37:g.114391210G>T	ENSP00000325091:p.Ser495Tyr		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.S495Y	ENST00000317135.8	37	c.1484	CCDS48155.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	16.55	3.154509	0.57259	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	D;T	0.84070	-1.8;5.53	4.89	3.07	0.35406	.	0.381123	0.27366	N	0.019689	D	0.83806	0.5334	L	0.38175	1.15	0.46701	D	0.999167	B;D	0.64830	0.0;0.994	B;D	0.65010	0.0;0.931	T	0.81904	-0.0719	10	0.59425	D	0.04	-1.7265	8.6699	0.34143	0.0:0.1619:0.6667:0.1713	.	495;495	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	Y	495	ENSP00000325091:S495Y;ENSP00000439366:S495Y	ENSP00000325091:S495Y	S	-	2	0	LRCH2	114297466	1.000000	0.71417	0.971000	0.41717	0.925000	0.55904	1.779000	0.38624	0.456000	0.26937	0.544000	0.68410	TCT	LRCH2	-	NULL		0.244	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	G	NM_020871		114391210	-1	no_errors	ENST00000317135	ensembl	human	known	70_37	missense	SNP	0.986	T
LRCH3	84859	genome.wustl.edu	37	3	197602611	197602611	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:197602611T>G	ENST00000425562.2	+	20	2173	c.2173T>G	c.(2173-2175)Ttc>Gtc	p.F725V	LRCH3_ENST00000414675.2_Missense_Mutation_p.F673V|LRCH3_ENST00000536618.1_Missense_Mutation_p.F320V|LRCH3_ENST00000441090.2_Missense_Mutation_p.F571V|LRCH3_ENST00000438796.2_Missense_Mutation_p.F725V			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	725	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TGTGGAAAATTTCCTAGAAGC	0.338																																																	0																																										SO:0001583	missense	84859			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.2173T>G	3.37:g.197602611T>G	ENSP00000393579:p.Phe725Val		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.F725V	ENST00000425562.2	37	c.2173		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.5|29.5	5.010724|5.010724	0.93346|0.93346	.|.	.|.	ENSG00000186001|ENSG00000186001	ENST00000428136|ENST00000438796;ENST00000441090;ENST00000414675;ENST00000425562;ENST00000536618;ENST00000452660;ENST00000433298	.|D;D;D;D;D;D;D	.|0.94650	.|-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Calponin homology domain (5);	.|.	.|.	.|.	.|.	D|D	0.97349|0.97349	0.9133|0.9133	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	.|P;D;D;D	.|0.89917	.|0.859;0.999;1.0;1.0	.|P;D;D;D	.|0.91635	.|0.888;0.996;0.999;0.999	D|D	0.98006|0.98006	1.0363|1.0363	4|8	.|0.87932	.|D	.|0	.|.	16.329|16.329	0.83001|0.83001	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|571;673;725;725	.|E9PD99;B4E0T7;Q96II8-2;Q96II8	.|.;.;.;LRCH3_HUMAN	C|V	102|725;571;673;725;320;200;162	.|ENSP00000399751:F725V;ENSP00000394609:F571V;ENSP00000394965:F673V;ENSP00000393579:F725V;ENSP00000439083:F320V;ENSP00000395309:F200V;ENSP00000400164:F162V	.|ENSP00000394965:F673V	F|F	+|+	2|1	0|0	LRCH3|LRCH3	199087008|199087008	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.582000|7.582000	0.82546|0.82546	2.258000|2.258000	0.74832|0.74832	0.529000|0.529000	0.55759|0.55759	TTT|TTC	LRCH3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.338	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	HGNC	protein_coding	OTTHUMT00000339965.1	T	NM_032773		197602611	+1	no_errors	ENST00000438796	ensembl	human	known	70_37	missense	SNP	1.000	G
LRFN2	57497	genome.wustl.edu	37	6	40359788	40359788	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:40359788C>T	ENST00000338305.6	-	3	2806	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	755						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGAGAGGCTGCGCTTCGTCCA	0.642																																																	0													50.0	49.0	49.0					6																	40359788		2203	4300	6503	SO:0001583	missense	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2264G>A	6.37:g.40359788C>T	ENSP00000345985:p.Arg755His		A5PKU3|Q5SYP9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R755H	ENST00000338305.6	37	c.2264	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896043	0.91962	.	.	ENSG00000156564	ENST00000338305	T	0.66280	-0.2	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.71160	0.3307	L	0.54323	1.7	0.58432	D	0.999999	D	0.76494	0.999	D	0.76071	0.987	T	0.74520	-0.3638	10	0.87932	D	0	.	17.4237	0.87521	0.0:1.0:0.0:0.0	.	755	Q9ULH4	LRFN2_HUMAN	H	755	ENSP00000345985:R755H	ENSP00000345985:R755H	R	-	2	0	LRFN2	40467766	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.462000	0.83206	0.549000	0.68633	CGC	LRFN2	-	NULL		0.642	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1	C	XM_166372		40359788	-1	no_errors	ENST00000338305	ensembl	human	known	70_37	missense	SNP	1.000	T
LRFN5	145581	genome.wustl.edu	37	14	42355841	42355841	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:42355841C>A	ENST00000298119.4	+	3	1202	c.13C>A	c.(13-15)Ctt>Att	p.L5I	LRFN5_ENST00000554120.1_Missense_Mutation_p.L5I|LRFN5_ENST00000554171.1_Missense_Mutation_p.L5I	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	5						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGAAAAAATTCTTTTTTATCT	0.368										HNSCC(30;0.082)																																							0													47.0	48.0	48.0					14																	42355841		2203	4300	6503	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.13C>A	14.37:g.42355841C>A	ENSP00000298119:p.Leu5Ile		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L5I	ENST00000298119.4	37	c.13	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625626	0.28889	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.54479	0.67;0.58;0.57	5.56	4.65	0.58169	.	0.000000	0.50627	D	0.000103	T	0.44932	0.1317	L	0.46741	1.465	0.37653	D	0.922463	B;B	0.23650	0.089;0.026	B;B	0.28139	0.086;0.041	T	0.48833	-0.9000	10	0.49607	T	0.09	.	7.703	0.28634	0.0:0.7471:0.1669:0.0861	.	5;5	G3V364;Q96NI6	.;LRFN5_HUMAN	I	5	ENSP00000298119:L5I;ENSP00000451897:L5I;ENSP00000451067:L5I	ENSP00000298119:L5I	L	+	1	0	LRFN5	41425591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.611000	0.46334	1.292000	0.44672	0.650000	0.86243	CTT	LRFN5	-	NULL		0.368	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	C	NM_152447		42355841	+1	no_errors	ENST00000298119	ensembl	human	known	70_37	missense	SNP	1.000	A
LRGUK	136332	genome.wustl.edu	37	7	133943057	133943057	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:133943057T>C	ENST00000285928.2	+	19	2316	c.2247T>C	c.(2245-2247)tgT>tgC	p.C749C		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	749						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TTCGGTTCTGTCCGTGGTCAA	0.453																																																	0													146.0	138.0	141.0					7																	133943057		2203	4300	6503	SO:0001819	synonymous_variant	136332			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2247T>C	7.37:g.133943057T>C			Q2M3I1	Silent	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.C749	ENST00000285928.2	37	c.2247	CCDS5830.1	7																																																																																			LRGUK	-	NULL		0.453	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	T	NM_144648		133943057	+1	no_errors	ENST00000285928	ensembl	human	known	70_37	silent	SNP	0.000	C
LRIG2	9860	genome.wustl.edu	37	1	113667099	113667099	+	3'UTR	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:113667099C>T	ENST00000361127.5	+	0	3772				LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2						innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ATCACTACTTCGATGTTCTAC	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.*376C>T	1.37:g.113667099C>T			Q9NSN2	RNA	SNP	-	NULL	ENST00000361127.5	37	NULL	CCDS30808.1	1																																																																																			LRIG2	-	-		0.463	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	C	NM_014813		113667099	+1	no_errors	ENST00000466161	ensembl	human	known	70_37	rna	SNP	0.001	T
LRP12	29967	genome.wustl.edu	37	8	105502517	105502517	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:105502517G>T	ENST00000276654.5	-	0	3072				LRP12_ENST00000424843.2_3'UTR|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTTGGCAAAAGCATAAACGTT	0.284																																																	0																																										SO:0001624	3_prime_UTR_variant	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.*384C>A	8.37:g.105502517G>T			A8K137|B4DRQ2	RNA	SNP	-	NULL	ENST00000276654.5	37	NULL	CCDS6303.1	8																																																																																			LRP12	-	-		0.284	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	G	NM_013437		105502517	-1	no_errors	ENST00000518375	ensembl	human	putative	70_37	rna	SNP	1.000	T
LRP12	29967	genome.wustl.edu	37	8	105521183	105521183	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:105521183C>T	ENST00000276654.5	-	3	364	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	LRP12_ENST00000424843.2_Missense_Mutation_p.E67K	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	86	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTAATGATTTCGCCTGGGTTT	0.348																																																	0													117.0	111.0	113.0					8																	105521183		2203	4300	6503	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.256G>A	8.37:g.105521183C>T	ENSP00000276654:p.Glu86Lys		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.E67K	ENST00000276654.5	37	c.199	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643881	0.87859	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523830	T;T	0.27557	1.66;1.66	5.44	5.44	0.79542	CUB (5);	0.098930	0.64402	D	0.000002	T	0.41073	0.1143	N	0.20881	0.62	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.99	P;P;P	0.60012	0.867;0.536;0.778	T	0.31641	-0.9936	10	0.62326	D	0.03	-21.7922	19.6218	0.95660	0.0:1.0:0.0:0.0	.	67;67;86	Q68DE8;Q9Y561-2;Q9Y561	.;.;LRP12_HUMAN	K	67;86;86	ENSP00000399148:E67K;ENSP00000276654:E86K	ENSP00000276654:E86K	E	-	1	0	LRP12	105590359	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.130000	0.77235	2.711000	0.92665	0.561000	0.74099	GAA	LRP12	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.348	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	C	NM_013437		105521183	-1	no_errors	ENST00000424843	ensembl	human	known	70_37	missense	SNP	1.000	T
LRP1B	53353	genome.wustl.edu	37	2	141625357	141625357	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:141625357C>A	ENST00000389484.3	-	27	5352	c.4381G>T	c.(4381-4383)Gaa>Taa	p.E1461*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1461					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGGATGATTTCTATCATGTTT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													104.0	107.0	106.0					2																	141625357		2203	4300	6503	SO:0001587	stop_gained	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4381G>T	2.37:g.141625357C>A	ENSP00000374135:p.Glu1461*		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E1461*	ENST00000389484.3	37	c.4381	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	51	17.898474	0.99895	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	19.2069	0.93734	0.0:1.0:0.0:0.0	.	.	.	.	X	1461;1399;606	.	ENSP00000374135:E1461X	E	-	1	0	LRP1B	141341827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.723000	0.84788	2.547000	0.85894	0.655000	0.94253	GAA	LRP1B	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141625357	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	nonsense	SNP	1.000	A
LRP2	4036	genome.wustl.edu	37	2	170063682	170063682	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:170063682A>G	ENST00000263816.3	-	39	6833	c.6548T>C	c.(6547-6549)gTt>gCt	p.V2183A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2183					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTAAGAAGAACACGGCGGTA	0.418																																																	0													103.0	100.0	101.0					2																	170063682		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6548T>C	2.37:g.170063682A>G	ENSP00000263816:p.Val2183Ala		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V2183A	ENST00000263816.3	37	c.6548	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310976	0.81358	.	.	ENSG00000081479	ENST00000263816	D	0.93712	-3.27	5.98	4.81	0.61882	Six-bladed beta-propeller, TolB-like (1);	0.238751	0.41938	D	0.000788	D	0.92795	0.7709	M	0.71036	2.16	0.80722	D	1	P	0.47762	0.9	B	0.43331	0.416	D	0.92334	0.5876	10	0.87932	D	0	.	13.4536	0.61184	0.8692:0.1308:0.0:0.0	.	2183	P98164	LRP2_HUMAN	A	2183	ENSP00000263816:V2183A	ENSP00000263816:V2183A	V	-	2	0	LRP2	169771928	1.000000	0.71417	0.961000	0.40146	0.970000	0.65996	7.521000	0.81832	1.059000	0.40554	0.528000	0.53228	GTT	LRP2	-	smart_LDLR_classB_rpt		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	A	NM_004525		170063682	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	G
LRP2	4036	genome.wustl.edu	37	2	170082995	170082995	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:170082995T>C	ENST00000263816.3	-	32	5616	c.5331A>G	c.(5329-5331)atA>atG	p.I1777M		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1777					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AACCATTCTGTATCCCTGCTA	0.333																																																	0													132.0	128.0	130.0					2																	170082995		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5331A>G	2.37:g.170082995T>C	ENSP00000263816:p.Ile1777Met		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.I1777M	ENST00000263816.3	37	c.5331	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	T	15.85	2.956150	0.53293	.	.	ENSG00000081479	ENST00000263816	D	0.91237	-2.81	5.83	-1.07	0.09968	Six-bladed beta-propeller, TolB-like (1);	0.456273	0.24988	N	0.034010	D	0.86732	0.6003	M	0.70903	2.155	0.52099	D	0.999942	P	0.47302	0.893	P	0.45610	0.487	T	0.80002	-0.1565	10	0.66056	D	0.02	.	0.0109	0.00001	0.2953:0.2008:0.1935:0.3104	.	1777	P98164	LRP2_HUMAN	M	1777	ENSP00000263816:I1777M	ENSP00000263816:I1777M	I	-	3	3	LRP2	169791241	0.138000	0.22547	0.000000	0.03702	0.802000	0.45316	-0.458000	0.06737	-0.094000	0.12374	0.533000	0.62120	ATA	LRP2	-	smart_LDLR_classB_rpt		0.333	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	T	NM_004525		170082995	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.005	C
LRPAP1	4043	genome.wustl.edu	37	4	3516584	3516584	+	Silent	SNP	G	G	A	rs374981655		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:3516584G>A	ENST00000500728.2	-	7	1052	c.906C>T	c.(904-906)caC>caT	p.H302H	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	302	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TCAGCTTCTCGTGCGCAATCT	0.607																																																	0								G		0,4406		0,0,2203	182.0	146.0	158.0		906	-1.7	0.0	4		158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRPAP1	NM_002337.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		302/358	3516584	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4043				CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.906C>T	4.37:g.3516584G>A			D3DVR9|Q2M310|Q53HQ3|Q53HS6	Silent	SNP	pfam_Alpha_2_MRAP_C,pfam_MG_RAP_rcpt_1,superfamily_MG_RAP_rcpt_1	p.H302	ENST00000500728.2	37	c.906	CCDS3371.1	4																																																																																			LRPAP1	-	pfam_Alpha_2_MRAP_C,superfamily_MG_RAP_rcpt_1		0.607	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPAP1	HGNC	protein_coding	OTTHUMT00000206659.4	G			3516584	-1	no_errors	ENST00000500728	ensembl	human	known	70_37	silent	SNP	0.947	A
LRPPRC	10128	genome.wustl.edu	37	2	44176759	44176759	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:44176759C>T	ENST00000260665.7	-	16	1774	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	573					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTCGAGGCTCCTGGCAATAA	0.413																																																	0													79.0	69.0	73.0					2																	44176759		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1717G>A	2.37:g.44176759C>T	ENSP00000260665:p.Glu573Lys		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E573K	ENST00000260665.7	37	c.1717	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	7.087	0.571322	0.13623	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.55760	0.5	5.88	3.11	0.35812	.	0.539830	0.20252	N	0.096048	T	0.29028	0.0721	N	0.16478	0.41	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.002	T	0.07195	-1.0785	10	0.06891	T	0.86	-28.8779	7.8107	0.29230	0.0:0.6388:0.0:0.3612	.	473;573	F5H4J6;P42704	.;LPPRC_HUMAN	K	473;573	ENSP00000260665:E573K	ENSP00000260665:E573K	E	-	1	0	LRPPRC	44030263	0.980000	0.34600	0.769000	0.31535	0.848000	0.48234	1.037000	0.30241	0.806000	0.34183	-0.137000	0.14449	GAG	LRPPRC	-	NULL		0.413	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44176759	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	missense	SNP	0.925	T
LRRC16A	55604	genome.wustl.edu	37	6	25620363	25620363	+	3'UTR	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:25620363C>A	ENST00000329474.6	+	0	5036				LRRC16A_ENST00000476458.1_3'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TATATTAGATCTTGGGTATGG	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.*552C>A	6.37:g.25620363C>A			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	RNA	SNP	-	NULL	ENST00000329474.6	37	NULL	CCDS54973.1	6																																																																																			LRRC16A	-	-		0.343	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	C	NM_017640		25620363	+1	no_errors	ENST00000476458	ensembl	human	known	70_37	rna	SNP	1.000	A
LRRC16B	90668	genome.wustl.edu	37	14	24524340	24524340	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:24524340C>A	ENST00000342740.5	+	7	680	c.526C>A	c.(526-528)Caa>Aaa	p.Q176K	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	176						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGAGGAGGTTCAATGGGTATG	0.577																																																	0													151.0	135.0	140.0					14																	24524340		2203	4300	6503	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.526C>A	14.37:g.24524340C>A	ENSP00000340467:p.Gln176Lys		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.Q176K	ENST00000342740.5	37	c.526	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533180	0.45073	.	.	ENSG00000186648	ENST00000342740	T	0.52983	0.64	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000005	T	0.63838	0.2545	M	0.79123	2.44	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.63655	-0.6588	10	0.36615	T	0.2	-8.6922	12.6262	0.56630	0.0:1.0:0.0:0.0	.	176	Q8ND23	LR16B_HUMAN	K	176	ENSP00000340467:Q176K	ENSP00000340467:Q176K	Q	+	1	0	LRRC16B	23594180	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.087000	0.76893	2.342000	0.79632	0.462000	0.41574	CAA	LRRC16B	-	NULL		0.577	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	C	NM_138360		24524340	+1	no_errors	ENST00000342740	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC29	26231	genome.wustl.edu	37	16	67260935	67260935	+	5'Flank	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67260935G>T	ENST00000393992.1	-	0	0				LRRC29_ENST00000409509.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank|TMEM208_ENST00000565201.1_5'Flank|TMEM208_ENST00000304800.9_5'Flank|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000341546.3_5'Flank|TMEM208_ENST00000563953.1_5'Flank	NM_012163.2	NP_036295.1	Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29											autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CACTGCGCAAGGCTTTCTGGG	0.647																																																	0																																										SO:0001631	upstream_gene_variant	26231			AF176701	CCDS32465.1	16q22.1	2008-02-05	2004-08-23	2004-08-26	ENSG00000125122	ENSG00000125122			13605	protein-coding gene	gene with protein product			"""F-box and leucine-rich repeat protein 9"""	FBXL9		10531037	Standard	NM_012163		Approved	FBL9	uc002esf.3	Q8WV35	OTTHUMG00000154403		16.37:g.67260935G>T	Exception_encountered		B2RE92|Q9UKA0	RNA	SNP	-	NULL	ENST00000393992.1	37	NULL	CCDS32465.1	16																																																																																			LRRC29	-	-		0.647	LRRC29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC29	HGNC	protein_coding	OTTHUMT00000335070.1	G	NM_012163		67260935	-1	no_errors	ENST00000485549	ensembl	human	putative	70_37	rna	SNP	0.051	T
LRRC37A11P	342666	genome.wustl.edu	37	17	37186498	37186498	+	RNA	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:37186498C>T	ENST00000425901.2	+	0	340					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		TCTTCTCCAGCCCAGCAAGAG	0.567																																																	0																																												342666					17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37186498C>T				RNA	SNP	-	NULL	ENST00000425901.2	37	NULL		17																																																																																			LRRC37A11P	-	-		0.567	LRRC37A11P-002	KNOWN	basic	processed_transcript	LRRC37A11P	HGNC	pseudogene	OTTHUMT00000444105.1	C	NR_033753		37186498	+1	no_errors	ENST00000425901	ensembl	human	known	70_37	rna	SNP	0.000	T
LRRC37A3	374819	genome.wustl.edu	37	17	62892841	62892841	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:62892841T>C	ENST00000584306.1	-	3	1065	c.535A>G	c.(535-537)Act>Gct	p.T179A	LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.T179A|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	179						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCTGCAAAGTCTGTTTCTGA	0.493																																																	0													84.0	142.0	124.0					17																	62892841		1601	3634	5235	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.535A>G	17.37:g.62892841T>C	ENSP00000464535:p.Thr179Ala		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T179A	ENST00000584306.1	37	c.535	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	4.550	0.102171	0.08731	.	.	ENSG00000176809	ENST00000319651	T	0.59502	0.26	1.24	-0.0326	0.13904	.	.	.	.	.	T	0.39253	0.1071	L	0.34521	1.04	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.20840	-1.0263	9	0.29301	T	0.29	.	3.9619	0.09415	0.0:0.0:0.3856:0.6144	.	179	O60309	L37A3_HUMAN	A	179	ENSP00000325713:T179A	ENSP00000325713:T179A	T	-	1	0	LRRC37A3	60323303	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.172000	0.16704	-0.030000	0.13804	0.136000	0.15936	ACT	LRRC37A3	-	NULL		0.493	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	T	NM_199340		62892841	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.000	C
LRRC37A6P	387646	genome.wustl.edu	37	10	27539436	27539436	+	lincRNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:27539436G>T	ENST00000574842.1	+	0	705				LRRC37A6P_ENST00000284414.4_RNA																							AGTCTGAGAAGATTCAACCTC	0.577																																																	0													18.0	20.0	19.0					10																	27539436		692	1591	2283			387646																															10.37:g.27539436G>T				RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-		0.577	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	G			27539436	-1	no_errors	ENST00000284414	ensembl	human	known	70_37	rna	SNP	0.668	T
LRRC37A6P	387646	genome.wustl.edu	37	10	27540637	27540637	+	lincRNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:27540637G>T	ENST00000574842.1	+	0	2004				LRRC37A6P_ENST00000284414.4_RNA																							AGCCACAATAGTTGCCACGTG	0.622																																																	0																																												387646																															10.37:g.27540637G>T				RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-		0.622	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	G			27540637	-1	no_errors	ENST00000574795	ensembl	human	known	70_37	rna	SNP	0.005	T
LRRC39	127495	genome.wustl.edu	37	1	100626100	100626100	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:100626100T>C	ENST00000370137.1	-	4	339	c.141A>G	c.(139-141)gtA>gtG	p.V47V	LRRC39_ENST00000370138.1_Silent_p.V47V|LRRC39_ENST00000342895.3_Silent_p.V47V	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	47										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TGGTTAAGCTTACTCGTTCTT	0.358																																																	0													161.0	157.0	158.0					1																	100626100		2203	4300	6503	SO:0001819	synonymous_variant	127495			AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.141A>G	1.37:g.100626100T>C			B3KUD2|D3DT56|Q5VVK7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V47	ENST00000370137.1	37	c.141	CCDS766.1	1																																																																																			LRRC39	-	NULL		0.358	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC39	HGNC	protein_coding	OTTHUMT00000029917.2	T	NM_144620		100626100	-1	no_errors	ENST00000370138	ensembl	human	known	70_37	silent	SNP	0.000	C
LRRC48	83450	genome.wustl.edu	37	17	17919381	17919381	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:17919381T>C	ENST00000399187.1	+	13	1548	c.1330T>C	c.(1330-1332)Ttt>Ctt	p.F444L	LRRC48_ENST00000583995.1_3'UTR|LRRC48_ENST00000313838.8_Missense_Mutation_p.F444L|ATPAF2_ENST00000469327.1_5'Flank	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	444						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCACCAGCTTTTTGTCGATAA	0.458																																																	0													139.0	128.0	132.0					17																	17919381		1942	4134	6076	SO:0001583	missense	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1330T>C	17.37:g.17919381T>C	ENSP00000382140:p.Phe444Leu		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	NULL	p.F444L	ENST00000399187.1	37	c.1330	CCDS45622.1	17	.	.	.	.	.	.	.	.	.	.	T	14.74	2.624666	0.46840	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000399187;ENST00000399185	T;T	0.52983	0.64;0.64	5.6	5.6	0.85130	.	0.096661	0.64402	D	0.000001	T	0.27900	0.0687	N	0.17082	0.46	0.80722	D	1	B	0.31193	0.312	B	0.27380	0.079	T	0.13899	-1.0492	10	0.16420	T	0.52	-12.6142	9.871	0.41175	0.0:0.0809:0.0:0.9191	.	444	Q9H069	LRC48_HUMAN	L	444	ENSP00000326870:F444L;ENSP00000382140:F444L	ENSP00000326870:F444L	F	+	1	0	LRRC48	17860106	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	3.253000	0.51469	2.120000	0.65058	0.533000	0.62120	TTT	LRRC48	-	NULL		0.458	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	T	NM_031294		17919381	+1	no_errors	ENST00000313838	ensembl	human	known	70_37	missense	SNP	0.997	C
LRRC53	100144878	genome.wustl.edu	37	1	74945841	74945841	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:74945841G>A	ENST00000294635.4	-	3	1014	c.900C>T	c.(898-900)ttC>ttT	p.F300F	LRRC53_ENST00000416014.2_Silent_p.F300F|TNNI3K_ENST00000326637.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53	300						integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						GCATACCTGCGAAGCCAAGGA	0.512																																																	0																																										SO:0001819	synonymous_variant	100144878					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.900C>T	1.37:g.74945841G>A				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F300	ENST00000294635.4	37	c.900		1																																																																																			LRRC53	-	NULL		0.512	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC53	HGNC	protein_coding	OTTHUMT00000026515.2	G			74945841	-1	no_errors	ENST00000294635	ensembl	human	known	70_37	silent	SNP	0.998	A
LRRC69	100130742	genome.wustl.edu	37	8	92213000	92213000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:92213000C>T	ENST00000448384.2	+	7	913	c.913C>T	c.(913-915)Cga>Tga	p.R305*	LRRC69_ENST00000343709.3_Nonsense_Mutation_p.R149*	NM_001129890.1	NP_001123362.1	Q6ZNQ3	LRC69_HUMAN	leucine rich repeat containing 69	305										endometrium(1)	1						GGAATGTGTTCGATTTGTTCC	0.378																																																	0													242.0	201.0	213.0					8																	92213000		692	1591	2283	SO:0001587	stop_gained	100130742			AK130865		8q21.3	2010-07-14			ENSG00000214954	ENSG00000214954			34303	protein-coding gene	gene with protein product							Standard	NM_001129890		Approved		uc010mal.1	Q6ZNQ3	OTTHUMG00000164023	ENST00000448384.2:c.913C>T	8.37:g.92213000C>T	ENSP00000400803:p.Arg305*			Nonsense_Mutation	SNP	NULL	p.R149*	ENST00000448384.2	37	c.445		8	.	.	.	.	.	.	.	.	.	.	C	9.417	1.081916	0.20309	.	.	ENSG00000214954	ENST00000343709;ENST00000448384	.	.	.	5.29	-0.0248	0.13938	.	4.146900	0.01398	U	0.013516	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	0.7393	2.0206	0.03508	0.128:0.2795:0.3856:0.2069	.	.	.	.	X	149;305	.	ENSP00000343221:R149X	R	+	1	2	LRRC69	92282176	0.002000	0.14202	0.414000	0.26521	0.094000	0.18550	-0.129000	0.10515	0.204000	0.20548	0.561000	0.74099	CGA	LRRC69	-	NULL		0.378	LRRC69-007	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	LRRC69	HGNC	protein_coding	OTTHUMT00000415207.1	C	NM_001129890		92213000	+1	no_errors	ENST00000343709	ensembl	human	known	70_37	nonsense	SNP	0.029	T
LRRIQ3	127255	genome.wustl.edu	37	1	74492633	74492633	+	Missense_Mutation	SNP	C	C	A	rs200301604		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:74492633C>A	ENST00000395089.1	-	7	1738	c.1739G>T	c.(1738-1740)aGa>aTa	p.R580I	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R580I			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	580										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCACAATGTCTTTTATATAT	0.284																																																	0													59.0	54.0	56.0					1																	74492633		1789	4052	5841	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1739G>T	1.37:g.74492633C>A	ENSP00000378524:p.Arg580Ile		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.R580I	ENST00000395089.1	37	c.1739	CCDS41350.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.323|1.323	-0.599001|-0.599001	0.03744|0.03744	.|.	.|.	ENSG00000162620|ENSG00000162620	ENST00000417067|ENST00000395089;ENST00000354431	.|T;T	.|0.12879	.|2.64;2.64	5.05|5.05	-1.24|-1.24	0.09435|0.09435	.|.	.|.	.|.	.|.	.|.	T|T	0.03959|0.03959	0.0111|0.0111	L|L	0.29908|0.29908	0.895|0.895	0.31281|0.31281	N|N	0.690578|0.690578	.|P	.|0.48911	.|0.917	.|P	.|0.45037	.|0.467	T|T	0.34601|0.34601	-0.9822|-0.9822	6|9	0.87932|0.72032	D|D	0|0.01	.|.	4.8345|4.8345	0.13458|0.13458	0.0:0.4092:0.1533:0.4375|0.0:0.4092:0.1533:0.4375	.|.	.|580	.|A6PVS8	.|LRIQ3_HUMAN	Y|I	51|580	.|ENSP00000378524:R580I;ENSP00000346414:R580I	ENSP00000390376:D51Y|ENSP00000346414:R580I	D|R	-|-	1|2	0|0	LRRIQ3|LRRIQ3	74265221|74265221	0.336000|0.336000	0.24757|0.24757	0.784000|0.784000	0.31847|0.31847	0.062000|0.062000	0.15995|0.15995	-0.187000|-0.187000	0.09656|0.09656	-0.097000|-0.097000	0.12307|0.12307	-1.754000|-1.754000	0.00674|0.00674	GAC|AGA	LRRIQ3	-	NULL		0.284	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1	C	NM_145258		74492633	-1	no_errors	ENST00000354431	ensembl	human	known	70_37	missense	SNP	0.685	A
LRRN1	57633	genome.wustl.edu	37	3	3888399	3888399	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:3888399A>C	ENST00000319331.3	+	2	2835	c.2074A>C	c.(2074-2076)Agc>Cgc	p.S692R	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	692						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GGAAGGTGACAGCGAGAAAGA	0.428																																																	0													55.0	58.0	57.0					3																	3888399		2203	4300	6503	SO:0001583	missense	57633			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.2074A>C	3.37:g.3888399A>C	ENSP00000314901:p.Ser692Arg		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S692R	ENST00000319331.3	37	c.2074	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870316	0.33069	.	.	ENSG00000175928	ENST00000319331	T	0.45276	0.9	5.9	4.74	0.60224	.	0.120885	0.85682	D	0.000000	T	0.39253	0.1071	L	0.57536	1.79	0.45962	D	0.998788	B	0.13594	0.008	B	0.10450	0.005	T	0.15178	-1.0446	10	0.23891	T	0.37	.	13.1181	0.59311	0.853:0.147:0.0:0.0	.	692	Q6UXK5	LRRN1_HUMAN	R	692	ENSP00000314901:S692R	ENSP00000314901:S692R	S	+	1	0	LRRN1	3863399	1.000000	0.71417	0.972000	0.41901	0.912000	0.54170	3.181000	0.50903	1.038000	0.40049	0.528000	0.53228	AGC	LRRN1	-	NULL		0.428	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	A	NM_020873		3888399	+1	no_errors	ENST00000319331	ensembl	human	known	70_37	missense	SNP	1.000	C
LRRN4	164312	genome.wustl.edu	37	20	6025204	6025204	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:6025204C>A	ENST00000378858.4	-	4	1207	c.983G>T	c.(982-984)aGa>aTa	p.R328I		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	328					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TAGGACAGTTCTCTTTGCATC	0.517																																																	0													59.0	51.0	54.0					20																	6025204		2203	4300	6503	SO:0001583	missense	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.983G>T	20.37:g.6025204C>A	ENSP00000368135:p.Arg328Ile		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R328I	ENST00000378858.4	37	c.983	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282686	0.59867	.	.	ENSG00000125872	ENST00000378858	T	0.60424	0.19	5.65	-0.452	0.12205	Cysteine-rich flanking region, C-terminal (1);	0.534254	0.19358	N	0.116203	T	0.50888	0.1642	M	0.64170	1.965	0.09310	N	0.999997	P	0.52842	0.956	P	0.45310	0.476	T	0.47407	-0.9120	10	0.56958	D	0.05	-2.9312	5.6327	0.17520	0.0:0.3754:0.1407:0.4839	.	328	Q8WUT4	LRRN4_HUMAN	I	328	ENSP00000368135:R328I	ENSP00000368135:R328I	R	-	2	0	LRRN4	5973204	0.064000	0.20934	0.017000	0.16124	0.740000	0.42216	-0.170000	0.09897	0.040000	0.15660	0.591000	0.81541	AGA	LRRN4	-	NULL		0.517	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	C	NM_152611		6025204	-1	no_errors	ENST00000378858	ensembl	human	known	70_37	missense	SNP	0.014	A
LRRTM3	347731	genome.wustl.edu	37	10	68687033	68687033	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:68687033G>T	ENST00000361320.4	+	2	937	c.359G>T	c.(358-360)aGa>aTa	p.R120I	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	120					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AGTTCCAATAGAATCTCCTAT	0.383																																																	0													101.0	107.0	105.0					10																	68687033		2203	4300	6503	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.359G>T	10.37:g.68687033G>T	ENSP00000355187:p.Arg120Ile		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.R120I	ENST00000361320.4	37	c.359	CCDS7270.1	10	.	.	.	.	.	.	.	.	.	.	G	15.15	2.746724	0.49257	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.60040	0.22	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000003	T	0.73426	0.3585	M	0.66378	2.025	0.80722	D	1	D;D	0.61697	0.99;0.982	P;P	0.62740	0.88;0.906	T	0.75690	-0.3230	10	0.66056	D	0.02	.	18.0114	0.89225	0.0:0.0:1.0:0.0	.	120;120	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	I	120	ENSP00000355187:R120I	ENSP00000355187:R120I	R	+	2	0	LRRTM3	68357039	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.317000	0.72862	2.543000	0.85770	0.655000	0.94253	AGA	LRRTM3	-	smart_Leu-rich_rpt_typical-subtyp		0.383	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2	G	NM_178011		68687033	+1	no_errors	ENST00000361320	ensembl	human	known	70_37	missense	SNP	1.000	T
LRTM2	654429	genome.wustl.edu	37	12	1944744	1944744	+	3'UTR	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:1944744A>G	ENST00000543818.1	+	0	2812				CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000535041.1_3'UTR|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_3'UTR	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2							integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCAGGAAGGAACTCAACCAGT	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	654429			AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.*857A>G	12.37:g.1944744A>G			A7E2U6	RNA	SNP	-	NULL	ENST00000543818.1	37	NULL	CCDS31726.1	12																																																																																			LRTM2	-	-		0.557	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	HGNC	protein_coding	OTTHUMT00000398055.1	A			1944744	+1	no_errors	ENST00000543730	ensembl	human	putative	70_37	rna	SNP	0.000	G
LSS	4047	genome.wustl.edu	37	21	47647571	47647571	+	Missense_Mutation	SNP	T	T	G	rs192273544		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:47647571T>G	ENST00000397728.3	-	3	292	c.214A>C	c.(214-216)Acc>Ccc	p.T72P	MCM3AP-AS1_ENST00000444998.1_RNA|LSS_ENST00000457828.2_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000356396.4_Missense_Mutation_p.T72P|LSS_ENST00000522411.1_Missense_Mutation_p.T72P|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	72					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCAAAGGCGGTGTGGGCTTTG	0.522																																					Pancreas(114;955 2313 34923 50507)												0													114.0	114.0	114.0					21																	47647571		2203	4300	6503	SO:0001583	missense	4047			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.214A>C	21.37:g.47647571T>G	ENSP00000380837:p.Thr72Pro		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	p.T72P	ENST00000397728.3	37	c.214	CCDS13733.1	21	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336529	0.81801	.	.	ENSG00000160285	ENST00000356396;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	M	0.89287	3.02	0.80722	D	1	D;D	0.69078	0.997;0.985	D;P	0.67548	0.952;0.843	T	0.59490	-0.7445	10	0.62326	D	0.03	.	13.1509	0.59488	0.0:0.0:0.0:1.0	.	72;72	E9PEI9;P48449	.;ERG7_HUMAN	P	72;72;72;73	ENSP00000348762:T72P;ENSP00000380837:T72P;ENSP00000429133:T72P;ENSP00000391368:T73P	ENSP00000348762:T72P	T	-	1	0	LSS	46471999	1.000000	0.71417	0.994000	0.49952	0.573000	0.36030	5.194000	0.65125	1.926000	0.55796	0.459000	0.35465	ACC	LSS	-	NULL		0.522	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	T			47647571	-1	no_errors	ENST00000356396	ensembl	human	known	70_37	missense	SNP	0.993	G
LTBP1	4052	genome.wustl.edu	37	2	33335744	33335744	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:33335744T>G	ENST00000404816.2	+	4	1312	c.959T>G	c.(958-960)aTt>aGt	p.I320S	LTBP1_ENST00000354476.3_Missense_Mutation_p.I320S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	320					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGAAGGGGATTTCAGGAGAG	0.488																																																	0													129.0	127.0	128.0					2																	33335744		2203	4300	6503	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.959T>G	2.37:g.33335744T>G	ENSP00000386043:p.Ile320Ser		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.I320S	ENST00000404816.2	37	c.959	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	T	5.242	0.230112	0.09969	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	T;T	0.80304	-1.36;-1.35	5.51	5.51	0.81932	.	.	.	.	.	T	0.73024	0.3534	N	0.22421	0.69	0.80722	D	1	B	0.30361	0.277	B	0.34779	0.189	T	0.72959	-0.4133	9	0.49607	T	0.09	.	15.6428	0.77020	0.0:0.0:0.0:1.0	.	320	Q14766-4	.	S	320	ENSP00000386043:I320S;ENSP00000346467:I320S	ENSP00000346467:I320S	I	+	2	0	LTBP1	33189248	0.972000	0.33761	0.270000	0.24601	0.087000	0.18053	2.032000	0.41127	2.087000	0.62958	0.528000	0.53228	ATT	LTBP1	-	NULL		0.488	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	T	NM_206943		33335744	+1	no_errors	ENST00000354476	ensembl	human	known	70_37	missense	SNP	0.312	G
LTN1	26046	genome.wustl.edu	37	21	30358482	30358482	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:30358482C>A	ENST00000361371.5	-	3	402	c.323G>T	c.(322-324)aGa>aTa	p.R108I	LTN1_ENST00000389194.2_Missense_Mutation_p.R154I|LTN1_ENST00000389195.2_Missense_Mutation_p.R154I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	108				R -> T (in Ref. 7; DB452437). {ECO:0000305}.	protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GCAAAAAATTCTTGGCCAATA	0.318																																																	0													57.0	59.0	58.0					21																	30358482		2202	4300	6502	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.323G>T	21.37:g.30358482C>A	ENSP00000354977:p.Arg108Ile		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.R108I	ENST00000361371.5	37	c.323		21	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061970	0.76187	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.66815	3.61;3.61;-0.23	4.2	4.2	0.49525	Armadillo-like helical (1);Armadillo-type fold (1);	0.061993	0.64402	D	0.000005	T	0.80803	0.4693	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.81780	-0.0776	10	0.40728	T	0.16	.	16.7488	0.85480	0.0:1.0:0.0:0.0	.	108	O94822	LTN1_HUMAN	I	154;108;110;154	ENSP00000373846:R154I;ENSP00000354977:R108I;ENSP00000373847:R154I	ENSP00000354977:R108I	R	-	2	0	LTN1	29280353	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.195000	0.58400	2.190000	0.69967	0.467000	0.42956	AGA	LTN1	-	superfamily_ARM-type_fold		0.318	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	C	NM_015565		30358482	-1	no_errors	ENST00000361371	ensembl	human	known	70_37	missense	SNP	1.000	A
LUZP2	338645	genome.wustl.edu	37	11	24759791	24759791	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:24759791G>A	ENST00000336930.6	+	4	342	c.276G>A	c.(274-276)gaG>gaA	p.E92E	LUZP2_ENST00000533227.1_Silent_p.E6E|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	92						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTCTTCAGGAGGCCCTGCAAA	0.363																																																	0													72.0	75.0	74.0					11																	24759791		2203	4300	6503	SO:0001819	synonymous_variant	338645			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.276G>A	11.37:g.24759791G>A			A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	NULL	p.E92	ENST00000336930.6	37	c.276	CCDS31446.1	11																																																																																			LUZP2	-	NULL		0.363	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	G	NM_001009909		24759791	+1	no_errors	ENST00000336930	ensembl	human	known	70_37	silent	SNP	0.999	A
LY6K	54742	genome.wustl.edu	37	8	143784515	143784515	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:143784515T>G	ENST00000292430.6	+	3	641	c.224T>G	c.(223-225)tTt>tGt	p.F75C	LY6K_ENST00000519387.1_Intron|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000561179.1_Missense_Mutation_p.F133C|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	75	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTAGAAATATTTCCACGTTTT	0.527																																																	0													48.0	46.0	47.0					8																	143784515		2203	4300	6503	SO:0001583	missense	54742			AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"""cancer/testis antigen 97"""	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.224T>G	8.37:g.143784515T>G	ENSP00000292430:p.Phe75Cys		G3V116|O15227|Q9BVD7	Missense_Mutation	SNP	NULL	p.F133C	ENST00000292430.6	37	c.398	CCDS6385.2	8	.	.	.	.	.	.	.	.	.	.	T	12.47	1.947848	0.34377	.	.	ENSG00000160886	ENST00000292430	T	0.50813	0.73	3.16	1.96	0.26148	.	0.746584	0.11029	N	0.607477	T	0.52370	0.1730	L	0.32530	0.975	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.33343	-0.9872	10	0.54805	T	0.06	.	5.5535	0.17103	0.2454:0.0:0.0:0.7546	.	75	Q17RY6	LY6K_HUMAN	C	133	ENSP00000292430:F133C	ENSP00000292430:F133C	F	+	2	0	LY6K	143781517	0.004000	0.15560	0.004000	0.12327	0.038000	0.13279	0.962000	0.29280	0.555000	0.29079	0.533000	0.62120	TTT	LY6K	-	NULL		0.527	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LY6K	HGNC	protein_coding	OTTHUMT00000379893.2	T	NM_017527		143784515	+1	no_errors	ENST00000561179	ensembl	human	known	70_37	missense	SNP	0.009	G
LY75	4065	genome.wustl.edu	37	2	160728989	160728989	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:160728989A>C	ENST00000263636.4	-	13	2117	c.2090T>G	c.(2089-2091)tTt>tGt	p.F697C	LY75_ENST00000554112.1_Missense_Mutation_p.F697C|LY75_ENST00000553424.1_Missense_Mutation_p.F697C|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.F697C|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.F697C	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	697	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AAAGTGAAGAAATTCCTTTAT	0.373																																																	0													107.0	116.0	113.0					2																	160728989		2203	4300	6503	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2090T>G	2.37:g.160728989A>C	ENSP00000263636:p.Phe697Cys		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.F697C	ENST00000263636.4	37	c.2090	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183553	0.38609	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12	5.17	3.99	0.46301	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.503772	0.14784	U	0.298624	T	0.27663	0.0680	M	0.79475	2.455	0.31915	N	0.614185	D;D;D;D	0.76494	0.967;0.999;0.999;0.999	D;D;D;D	0.70227	0.926;0.927;0.968;0.939	T	0.27123	-1.0083	10	0.72032	D	0.01	-13.9765	10.6428	0.45602	0.8558:0.0:0.0:0.1442	.	315;697;697;697	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	C	697	ENSP00000451511:F697C;ENSP00000451446:F697C;ENSP00000263636:F697C;ENSP00000423463:F697C;ENSP00000421035:F697C	ENSP00000423463:F697C	F	-	2	0	LY75;LY75-CD302	160437235	1.000000	0.71417	0.987000	0.45799	0.116000	0.19942	4.810000	0.62598	0.889000	0.36185	0.397000	0.26171	TTT	LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.373	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	A			160728989	-1	no_errors	ENST00000554112	ensembl	human	known	70_37	missense	SNP	1.000	C
LYG1	129530	genome.wustl.edu	37	2	99907879	99907879	+	Missense_Mutation	SNP	G	G	A	rs267599508		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:99907879G>A	ENST00000409448.1	-	6	470	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	LYG1_ENST00000308528.4_Missense_Mutation_p.R52C			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	52					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TCAGAAGCACGAACTCCTAAA	0.463																																																	0													111.0	90.0	97.0					2																	99907879		2203	4300	6503	SO:0001583	missense	129530			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.154C>T	2.37:g.99907879G>A	ENSP00000386923:p.Arg52Cys		Q53RV9	Missense_Mutation	SNP	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	p.R52C	ENST00000409448.1	37	c.154	CCDS2043.1	2	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329154	0.24167	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.82	3.93	0.45458	Lysozyme-like domain (1);	0.100557	0.44902	D	0.000409	T	0.66723	0.2818	M	0.68317	2.08	0.47094	D	0.999317	D	0.71674	0.998	P	0.57371	0.819	T	0.67810	-0.5574	8	.	.	.	-11.7141	11.2238	0.48871	0.0:0.1853:0.8147:0.0	.	52	Q8N1E2	LYG1_HUMAN	C	52	.	.	R	-	1	0	LYG1	99274311	0.023000	0.18921	0.854000	0.33618	0.308000	0.27856	1.656000	0.37355	1.385000	0.46445	-0.181000	0.13052	CGT	LYG1	-	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23		0.463	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LYG1	HGNC	protein_coding	OTTHUMT00000330315.1	G	NM_174898		99907879	-1	no_errors	ENST00000308528	ensembl	human	known	70_37	missense	SNP	0.912	A
LY75	4065	genome.wustl.edu	37	2	160735169	160735169	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:160735169T>G	ENST00000263636.4	-	10	1606	c.1579A>C	c.(1579-1581)Aac>Cac	p.N527H	LY75_ENST00000554112.1_Missense_Mutation_p.N527H|LY75_ENST00000553424.1_Missense_Mutation_p.N527H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.N527H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.N527H	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	527	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AGATTGCAGTTTGTTCCAAAA	0.383																																																	0													171.0	154.0	160.0					2																	160735169		2203	4300	6503	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1579A>C	2.37:g.160735169T>G	ENSP00000263636:p.Asn527His		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.N527H	ENST00000263636.4	37	c.1579	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	T	6.786	0.513922	0.12944	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.54279	0.58;3.01;2.98;0.58;3.01	5.31	4.08	0.47627	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.204968	0.24280	N	0.039916	T	0.35422	0.0931	N	0.22421	0.69	0.26624	N	0.972598	B;B;B;B	0.19331	0.003;0.028;0.035;0.023	B;B;B;B	0.19391	0.012;0.015;0.025;0.021	T	0.12528	-1.0544	10	0.14656	T	0.56	-14.8073	11.7107	0.51623	0.0:0.0:0.2141:0.7859	.	145;527;527;527	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	H	527	ENSP00000451511:N527H;ENSP00000451446:N527H;ENSP00000263636:N527H;ENSP00000423463:N527H;ENSP00000421035:N527H	ENSP00000423463:N527H	N	-	1	0	LY75;LY75-CD302	160443415	0.954000	0.32549	1.000000	0.80357	0.997000	0.91878	1.418000	0.34782	2.124000	0.65301	0.528000	0.53228	AAC	LY75	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.383	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	T			160735169	-1	no_errors	ENST00000554112	ensembl	human	known	70_37	missense	SNP	0.964	G
MAATS1	89876	genome.wustl.edu	37	3	119449158	119449158	+	Missense_Mutation	SNP	C	C	T	rs374317339		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:119449158C>T	ENST00000273390.5	+	8	1029	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	318						mitochondrion (GO:0005739)		p.R318W(1)									CTTGAATGCCCGGTGGTCTAA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											192.0	196.0	195.0					3																	119449158		2203	4300	6503	SO:0001583	missense	89876			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.952C>T	3.37:g.119449158C>T	ENSP00000273390:p.Arg318Trp		A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	superfamily_S-AdoMet_deCO2ase_core	p.R318W	ENST00000273390.5	37	c.952	CCDS2994.1	3	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397649	0.62177	.	.	ENSG00000183833	ENST00000273390	T	0.22336	1.96	5.2	3.3	0.37823	.	0.711873	0.14769	N	0.299528	T	0.34571	0.0902	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.998;0.995;0.999;0.995	P;P;P;P;P	0.56278	0.764;0.711;0.711;0.795;0.736	T	0.06215	-1.0839	10	0.66056	D	0.02	-20.1193	13.8788	0.63670	0.2982:0.7018:0.0:0.0	.	318;79;256;318;318	Q7Z4T9;Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	AAT1_HUMAN;.;.;.;.	W	318	ENSP00000273390:R318W	ENSP00000273390:R318W	R	+	1	2	C3orf15	120931848	0.011000	0.17503	0.966000	0.40874	0.751000	0.42716	1.946000	0.40283	0.590000	0.29694	0.557000	0.71058	CGG	MAATS1	-	NULL		0.438	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	HGNC	protein_coding	OTTHUMT00000355222.1	C	NM_033364		119449158	+1	no_errors	ENST00000273390	ensembl	human	known	70_37	missense	SNP	0.959	T
MACC1	346389	genome.wustl.edu	37	7	20198624	20198624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:20198624C>A	ENST00000400331.5	-	5	1668	c.1360G>T	c.(1360-1362)Gaa>Taa	p.E454*	MACC1_ENST00000332878.4_Nonsense_Mutation_p.E454*|MACC1_ENST00000589011.1_Nonsense_Mutation_p.E454*	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	454					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGTTTAATTTCTTTCCTTTCT	0.338																																																	0													78.0	63.0	68.0					7																	20198624		2203	4299	6502	SO:0001587	stop_gained	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1360G>T	7.37:g.20198624C>A	ENSP00000383185:p.Glu454*		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Nonsense_Mutation	SNP	pfam_SH3_2,superfamily_DEATH-like	p.E454*	ENST00000400331.5	37	c.1360	CCDS5369.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.099933	0.97281	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	.	.	.	5.57	5.57	0.84162	.	0.257562	0.44285	D	0.000475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-11.8948	8.9994	0.36072	0.0:0.766:0.1507:0.0832	.	.	.	.	X	454	.	ENSP00000328410:E454X	E	-	1	0	MACC1	20165149	1.000000	0.71417	0.957000	0.39632	0.602000	0.36980	1.581000	0.36558	2.609000	0.88269	0.591000	0.81541	GAA	MACC1	-	NULL		0.338	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	C	NM_182762		20198624	-1	no_errors	ENST00000332878	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39934326	39934326	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:39934326C>T	ENST00000372915.3	+	94	21577	c.21490C>T	c.(21490-21492)Cgc>Tgc	p.R7164C	MACF1_ENST00000361689.2_Missense_Mutation_p.R5206C|MACF1_ENST00000539005.1_Missense_Mutation_p.R5076C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5714C|MACF1_ENST00000564288.1_Missense_Mutation_p.R7271C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5206C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7308C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5206C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7164	C-terminal tail. {ECO:0000250}.|GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGTATTCTGCGCAGCACCGT	0.433																																																	0													105.0	103.0	104.0					1																	39934326		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21490C>T	1.37:g.39934326C>T	ENSP00000362006:p.Arg7164Cys		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R5206C	ENST00000372915.3	37	c.15616		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.716622|4.716622	0.89205|0.89205	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218;ENST00000422234	.|T;T;T;T;T;T	.|0.76709	.|-1.01;-0.9;-1.01;-1.04;-0.82;0.03	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Growth-arrest-specific protein 2 domain (10);	.|0.000000	.|0.64402	.|D	.|0.000006	D|D	0.87716|0.87716	0.6247|0.6247	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.998;1.0;1.0;0.999	D|D	0.87061|0.87061	0.2153|0.2153	5|9	.|.	.|.	.|.	.|.	14.7155|14.7155	0.69265|0.69265	0.2549:0.7451:0.0:0.0|0.2549:0.7451:0.0:0.0	.|.	.|7164;5206;5714;106	.|Q9UPN3;F8W8Q1;Q96PK2;B1ANQ7	.|MACF1_HUMAN;.;MACF4_HUMAN;.	V|C	4209;193|5206;7164;5206;5206;5076;5714;83;45	.|ENSP00000439537:R5206C;ENSP00000362006:R7164C;ENSP00000354573:R5206C;ENSP00000313438:R5206C;ENSP00000444364:R5076C;ENSP00000289893:R5714C	.|.	A|R	+|+	2|1	0|0	MACF1|MACF1	39706913|39706913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.956000|3.956000	0.56722|0.56722	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCG|CGC	MACF1	-	pfam_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	C	NM_033044		39934326	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	T
MAGEB1	4112	genome.wustl.edu	37	X	30268673	30268673	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:30268673G>T	ENST00000378981.3	+	4	384	c.63G>T	c.(61-63)gaG>gaT	p.E21D	MAGEB1_ENST00000397550.1_Missense_Mutation_p.E21D|MAGEB1_ENST00000397548.2_Missense_Mutation_p.E21D	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	21										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CGCGAGAGGAGACCCAGGGTC	0.592																																																	0													43.0	33.0	36.0					X																	30268673		2202	4299	6501	SO:0001583	missense	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.63G>T	X.37:g.30268673G>T	ENSP00000368264:p.Glu21Asp		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E21D	ENST00000378981.3	37	c.63	CCDS14222.1	X	.	.	.	.	.	.	.	.	.	.	g	13.18	2.160020	0.38119	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.15487	2.42;2.42;2.42	3.99	-2.45	0.06481	Melanoma associated antigen, MAGE, N-terminal (1);	0.896444	0.09495	N	0.794412	T	0.34193	0.0889	M	0.84585	2.705	0.09310	N	1	D	0.61697	0.99	D	0.70487	0.969	T	0.24333	-1.0163	10	0.45353	T	0.12	.	0.1698	0.00112	0.2992:0.1465:0.2526:0.3016	.	21	P43366	MAGB1_HUMAN	D	21	ENSP00000368264:E21D;ENSP00000380683:E21D;ENSP00000380681:E21D	ENSP00000368264:E21D	E	+	3	2	MAGEB1	30178594	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.243000	0.08915	-0.797000	0.04450	-0.169000	0.13324	GAG	MAGEB1	-	pfam_Melanoma_ass_antigen_N		0.592	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	G	NM_002363		30268673	+1	no_errors	ENST00000378981	ensembl	human	known	70_37	missense	SNP	0.000	T
MAGEC1	9947	genome.wustl.edu	37	X	140993495	140993495	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:140993495C>A	ENST00000285879.4	+	4	591	c.305C>A	c.(304-306)tCt>tAt	p.S102Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	102										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCAGAGTTCTCCTGAGGGG	0.567										HNSCC(15;0.026)																																							0													78.0	78.0	78.0					X																	140993495		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.305C>A	X.37:g.140993495C>A	ENSP00000285879:p.Ser102Tyr		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S102Y	ENST00000285879.4	37	c.305	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	g	0.055	-1.238645	0.01493	.	.	ENSG00000155495	ENST00000285879	T	0.02974	4.09	.	.	.	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.80722	D	1	P	0.50156	0.932	B	0.34991	0.193	T	0.66221	-0.5978	7	0.59425	D	0.04	.	.	.	.	.	102	O60732	MAGC1_HUMAN	Y	102	ENSP00000285879:S102Y	ENSP00000285879:S102Y	S	+	2	0	MAGEC1	140821161	0.002000	0.14202	0.014000	0.15608	0.014000	0.08584	1.216000	0.32443	0.108000	0.17862	0.110000	0.15639	TCT	MAGEC1	-	NULL		0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	C	NM_005462		140993495	+1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.961	A
MAGEE2	139599	genome.wustl.edu	37	X	75004134	75004134	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:75004134G>T	ENST00000373359.2	-	1	945	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	251	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCCACAAGAACTCAAACT	0.498																																																	0													63.0	59.0	61.0					X																	75004134		2203	4300	6503	SO:0001583	missense	139599			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.753C>A	X.37:g.75004134G>T	ENSP00000362457:p.Phe251Leu		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.F251L	ENST00000373359.2	37	c.753	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231209	0.39399	.	.	ENSG00000186675	ENST00000373359	T	0.05649	3.41	3.1	2.23	0.28157	.	.	.	.	.	T	0.11452	0.0279	M	0.68728	2.09	0.20196	N	0.999926	P	0.46395	0.877	P	0.48488	0.579	T	0.14868	-1.0457	9	0.62326	D	0.03	.	5.2674	0.15607	0.1633:0.0:0.8367:0.0	.	251	Q8TD90	MAGE2_HUMAN	L	251	ENSP00000362457:F251L	ENSP00000362457:F251L	F	-	3	2	MAGEE2	74920859	1.000000	0.71417	0.431000	0.26735	0.935000	0.57460	0.958000	0.29227	0.689000	0.31550	0.422000	0.28245	TTC	MAGEE2	-	pfam_MAGE,pfscan_MAGE		0.498	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	G	NM_138703		75004134	-1	no_errors	ENST00000373359	ensembl	human	known	70_37	missense	SNP	0.428	T
MAGEE1	57692	genome.wustl.edu	37	X	75648352	75648352	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:75648352G>A	ENST00000361470.2	+	1	307	c.29G>A	c.(28-30)cGc>cAc	p.R10H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	10	Poly-Arg.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AATTcgcgccgccgccgccgc	0.667																																																	0													12.0	15.0	14.0					X																	75648352		2180	4260	6440	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.29G>A	X.37:g.75648352G>A	ENSP00000354912:p.Arg10His		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R10H	ENST00000361470.2	37	c.29	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476166	0.63737	.	.	ENSG00000198934	ENST00000361470	T	0.03772	3.81	1.33	1.33	0.21861	.	.	.	.	.	T	0.06962	0.0177	N	0.19112	0.55	0.25209	N	0.99	D	0.65815	0.995	P	0.58520	0.84	T	0.35276	-0.9795	9	0.87932	D	0	.	5.5795	0.17243	0.0:0.0:1.0:0.0	.	10	Q9HCI5	MAGE1_HUMAN	H	10	ENSP00000354912:R10H	ENSP00000354912:R10H	R	+	2	0	MAGEE1	75564756	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	1.254000	0.32897	0.944000	0.37579	0.600000	0.82982	CGC	MAGEE1	-	NULL		0.667	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75648352	+1	no_errors	ENST00000361470	ensembl	human	known	70_37	missense	SNP	0.988	A
MAGEC1	9947	genome.wustl.edu	37	X	140994167	140994167	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:140994167C>T	ENST00000285879.4	+	4	1263	c.977C>T	c.(976-978)aCt>aTt	p.T326I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	326										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGAGAACTCACAGTACT	0.468										HNSCC(15;0.026)																																							0													116.0	116.0	116.0					X																	140994167		2199	4287	6486	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.977C>T	X.37:g.140994167C>T	ENSP00000285879:p.Thr326Ile		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.T326I	ENST00000285879.4	37	c.977	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	0.212	-1.035603	0.02029	.	.	ENSG00000155495	ENST00000285879	T	0.01647	4.71	.	.	.	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	0.999999	P	0.42993	0.797	B	0.28638	0.092	T	0.52268	-0.8598	8	0.72032	D	0.01	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	326	O60732	MAGC1_HUMAN	I	326	ENSP00000285879:T326I	ENSP00000285879:T326I	T	+	2	0	MAGEC1	140821833	0.085000	0.21516	0.017000	0.16124	0.018000	0.09664	0.240000	0.18042	0.148000	0.19059	0.150000	0.16122	ACT	MAGEC1	-	NULL		0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	C	NM_005462		140994167	+1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.016	T
MAGI3	260425	genome.wustl.edu	37	1	114128120	114128120	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:114128120G>A	ENST00000307546.9	+	4	740	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	MAGI3_ENST00000369615.1_Missense_Mutation_p.R222Q|MAGI3_ENST00000369611.4_Missense_Mutation_p.R222Q|MAGI3_ENST00000369617.4_Missense_Mutation_p.R222Q	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	222	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		CAAAGAAAACGAACGACATCT	0.458																																																	0													90.0	87.0	88.0					1																	114128120		2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.665G>A	1.37:g.114128120G>A	ENSP00000304604:p.Arg222Gln		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	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.R222Q	ENST00000307546.9	37	c.665	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.836813	0.97009	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.23754	2.17;1.89;2.18;2.18	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.983;0.996	T	0.47522	-0.9111	10	0.87932	D	0	-23.4486	20.3559	0.98840	0.0:0.0:1.0:0.0	.	222;222;222	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	Q	222	ENSP00000358630:R222Q;ENSP00000304604:R222Q;ENSP00000358628:R222Q;ENSP00000358624:R222Q	ENSP00000304604:R222Q	R	+	2	0	MAGI3	113929643	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.420000	0.97426	2.890000	0.99128	0.585000	0.79938	CGA	MAGI3	-	smart_Guanylate_kin/L-typ_Ca_channel		0.458	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	G	NM_152900		114128120	+1	no_errors	ENST00000369611	ensembl	human	known	70_37	missense	SNP	1.000	A
MAGOHB	55110	genome.wustl.edu	37	12	10762486	10762486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:10762486C>A	ENST00000320756.2	-	3	298	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	MAGOHB_ENST00000539554.1_Nonsense_Mutation_p.E24*|MAGOHB_ENST00000381881.2_Intron	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	70					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						TTTGTAATTTCACTGTCATCA	0.343																																																	0													121.0	122.0	121.0					12																	10762486		2203	4300	6503	SO:0001587	stop_gained	55110				CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.208G>T	12.37:g.10762486C>A	ENSP00000319240:p.Glu70*			Nonsense_Mutation	SNP	pfam_Mago_nashi,superfamily_Mago_nashi	p.E70*	ENST00000320756.2	37	c.208	CCDS8628.1	12	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894379	0.91889	.	.	ENSG00000111196	ENST00000539554;ENST00000320756	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.7455	0.77936	0.0:1.0:0.0:0.0	.	.	.	.	X	24;70	.	ENSP00000319240:E70X	E	-	1	0	MAGOHB	10653753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.836000	0.75349	2.844000	0.97970	0.591000	0.81541	GAA	MAGOHB	-	pfam_Mago_nashi,superfamily_Mago_nashi		0.343	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGOHB	HGNC	protein_coding	OTTHUMT00000399616.1	C	NM_018048		10762486	-1	no_errors	ENST00000320756	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MAP1B	4131	genome.wustl.edu	37	5	71493364	71493364	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:71493364T>G	ENST00000296755.7	+	5	4480	c.4182T>G	c.(4180-4182)gtT>gtG	p.V1394V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1394					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTGAAAAAGTTTTGTCTCCTT	0.478																																					Melanoma(17;367 822 11631 31730 47712)												0													56.0	58.0	57.0					5																	71493364		2203	4300	6503	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4182T>G	5.37:g.71493364T>G			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.V1394	ENST00000296755.7	37	c.4182	CCDS4012.1	5																																																																																			MAP1B	-	NULL		0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	T	NM_005909		71493364	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	silent	SNP	0.021	G
MAP1B	4131	genome.wustl.edu	37	5	71495218	71495218	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:71495218G>T	ENST00000296755.7	+	5	6334	c.6036G>T	c.(6034-6036)gaG>gaT	p.E2012D		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2012					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAACCACTGAGAAAATTACCA	0.468																																					Melanoma(17;367 822 11631 31730 47712)												0													138.0	150.0	146.0					5																	71495218		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6036G>T	5.37:g.71495218G>T	ENSP00000296755:p.Glu2012Asp		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.E2012D	ENST00000296755.7	37	c.6036	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642403	0.29246	.	.	ENSG00000131711	ENST00000296755	T	0.03468	3.92	5.51	4.45	0.53987	.	0.087058	0.49916	D	0.000136	T	0.03053	0.0090	N	0.08118	0	0.29433	N	0.859722	P;P	0.51537	0.946;0.946	P;P	0.45753	0.492;0.492	T	0.42068	-0.9473	10	0.39692	T	0.17	-23.4525	13.0096	0.58724	0.1341:0.0:0.8658:0.0	.	1886;2012	A2BDK6;P46821	.;MAP1B_HUMAN	D	2012	ENSP00000296755:E2012D	ENSP00000296755:E2012D	E	+	3	2	MAP1B	71530974	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.595000	0.46197	2.601000	0.87937	0.643000	0.83706	GAG	MAP1B	-	pfam_MAP1B_neuraxin		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	G	NM_005909		71495218	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	1.000	T
MAN2A1	4124	genome.wustl.edu	37	5	109110644	109110644	+	Missense_Mutation	SNP	C	C	A	rs142084782		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:109110644C>A	ENST00000261483.4	+	8	2404	c.1352C>A	c.(1351-1353)tCt>tAt	p.S451Y		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	451					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TATATGAATTCTCAGTCCAAG	0.323																																																	0													48.0	51.0	50.0					5																	109110644		2201	4299	6500	SO:0001583	missense	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1352C>A	5.37:g.109110644C>A	ENSP00000261483:p.Ser451Tyr		Q16767	Missense_Mutation	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.S451Y	ENST00000261483.4	37	c.1352	CCDS34209.1	5	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105986	0.77096	.	.	ENSG00000112893	ENST00000261483	T	0.25579	1.79	5.95	5.08	0.68730	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.363638	0.30068	N	0.010497	T	0.60599	0.2281	M	0.92923	3.36	0.53688	D	0.999971	D	0.71674	0.998	D	0.72075	0.976	T	0.72207	-0.4360	10	0.87932	D	0	-20.0015	15.3486	0.74363	0.0:0.933:0.0:0.067	.	451	Q16706	MA2A1_HUMAN	Y	451	ENSP00000261483:S451Y	ENSP00000261483:S451Y	S	+	2	0	MAN2A1	109138543	1.000000	0.71417	0.964000	0.40570	0.756000	0.42949	7.452000	0.80683	1.519000	0.48950	0.563000	0.77884	TCT	MAN2A1	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl		0.323	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	C			109110644	+1	no_errors	ENST00000261483	ensembl	human	known	70_37	missense	SNP	1.000	A
MAP2	4133	genome.wustl.edu	37	2	210559578	210559578	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:210559578C>T	ENST00000360351.4	+	7	3190	c.2684C>T	c.(2683-2685)aCc>aTc	p.T895I	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T891I	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	895					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GAGAGTGGTACCTTTTACGAA	0.463																																					Pancreas(27;423 979 28787 29963)												0													70.0	65.0	67.0					2																	210559578		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2684C>T	2.37:g.210559578C>T	ENSP00000353508:p.Thr895Ile		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.T895I	ENST00000360351.4	37	c.2684	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046947	0.36085	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.18810	2.19;2.19	5.9	5.02	0.67125	MAP2/Tau projection (1);	0.324847	0.26923	N	0.021820	T	0.14098	0.0341	N	0.14661	0.345	0.21220	N	0.99975	B;B	0.18013	0.02;0.025	B;B	0.22152	0.023;0.038	T	0.15321	-1.0441	10	0.33141	T	0.24	-5.0294	14.4847	0.67609	0.0:0.9301:0.0:0.0699	.	891;895	P11137-3;P11137	.;MAP2_HUMAN	I	895;891	ENSP00000353508:T895I;ENSP00000392164:T891I	ENSP00000353508:T895I	T	+	2	0	MAP2	210267823	0.967000	0.33354	0.988000	0.46212	0.974000	0.67602	2.287000	0.43505	2.808000	0.96608	0.650000	0.86243	ACC	MAP2	-	pfam_MAP2_projctn		0.463	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	C	NM_001039538		210559578	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	0.984	T
MAP2	4133	genome.wustl.edu	37	2	210594630	210594630	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:210594630G>T	ENST00000360351.4	+	14	5718	c.5212G>T	c.(5212-5214)Gct>Tct	p.A1738S	MAP2_ENST00000361559.4_Missense_Mutation_p.A382S|MAP2_ENST00000392194.1_Missense_Mutation_p.A382S|MAP2_ENST00000199940.6_Missense_Mutation_p.A470S|MAP2_ENST00000447185.1_Missense_Mutation_p.A1734S	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1738					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAAGGCCCAAGCTAAAGTTGG	0.368																																					Pancreas(27;423 979 28787 29963)												0													114.0	109.0	110.0					2																	210594630		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5212G>T	2.37:g.210594630G>T	ENSP00000353508:p.Ala1738Ser		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.A1738S	ENST00000360351.4	37	c.5212	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646928	0.67358	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.77	5.77	0.91146	.	0.000000	0.53938	D	0.000046	T	0.72145	0.3424	N	0.01091	-1.02	0.80722	D	1	D;P;P;D;B	0.59767	0.978;0.884;0.905;0.986;0.284	P;P;P;P;B	0.59948	0.708;0.509;0.642;0.866;0.262	T	0.71823	-0.4476	10	0.02654	T	1	-18.9357	19.5998	0.95557	0.0:0.0:1.0:0.0	.	1734;382;383;1738;470	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	S	470;1738;382;382;1734	ENSP00000199940:A470S;ENSP00000353508:A1738S;ENSP00000355290:A382S;ENSP00000376032:A382S;ENSP00000392164:A1734S	ENSP00000199940:A470S	A	+	1	0	MAP2	210302875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.863000	0.87023	2.730000	0.93505	0.655000	0.94253	GCT	MAP2	-	pfam_Tau/MAP_tubulin-bd_rpt		0.368	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210594630	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	1.000	T
SPATA32	124783	genome.wustl.edu	37	17	43340693	43340693	+	5'Flank	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:43340693T>C	ENST00000331780.4	-	0	0				SPATA32_ENST00000543122.1_5'Flank|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32						spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											AGTCTCGGCGTCCCCTGCCCC	0.587																																																	0																																										SO:0001631	upstream_gene_variant	9020			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363		17.37:g.43340693T>C	Exception_encountered		Q7Z4U1|Q8N6V6	RNA	SNP	-	NULL	ENST00000331780.4	37	NULL	CCDS32669.1	17																																																																																			MAP3K14	-	-		0.587	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K14	HGNC	protein_coding	OTTHUMT00000450946.1	T	NM_152343		43340693	-1	no_errors	ENST00000344686	ensembl	human	known	70_37	rna	SNP	0.000	C
MAP3K15	389840	genome.wustl.edu	37	X	19418734	19418734	+	Missense_Mutation	SNP	G	G	A	rs555050902		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:19418734G>A	ENST00000338883.4	-	14	1891	c.1892C>T	c.(1891-1893)aCg>aTg	p.T631M	MAP3K15_ENST00000359173.3_Missense_Mutation_p.T66M|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.T463M	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	631							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAGCTCCACCGTACTGCCTGC	0.448													g|||	2	0.000529801	0.0	0.0	3775	,	,		15533	0.0		0.001	False		,,,				2504	0.001																0													359.0	307.0	325.0					X																	19418734		2203	4300	6503	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1892C>T	X.37:g.19418734G>A	ENSP00000345629:p.Thr631Met		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T631M	ENST00000338883.4	37	c.1892		X	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623360	0.28889	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.73047	-0.67;-0.71;-0.66	5.28	3.5	0.40072	.	0.415363	0.28161	N	0.016374	T	0.75796	0.3898	L	0.51422	1.61	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.64042	0.921;0.911	T	0.65759	-0.6090	10	0.33141	T	0.24	.	10.9509	0.47327	0.156:0.0:0.844:0.0	.	106;631	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	M	631;66;463	ENSP00000345629:T631M;ENSP00000352093:T66M;ENSP00000428356:T463M	ENSP00000345629:T631M	T	-	2	0	MAP3K15	19328655	0.996000	0.38824	0.001000	0.08648	0.081000	0.17604	5.930000	0.70104	0.444000	0.26612	0.597000	0.82753	ACG	MAP3K15	-	NULL		0.448	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		G	NM_001001671		19418734	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	missense	SNP	0.060	A
MAP3K19	80122	genome.wustl.edu	37	2	135743751	135743751	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:135743751T>C	ENST00000375845.3	-	7	2721	c.2691A>G	c.(2689-2691)tcA>tcG	p.S897S	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.S784S|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Silent_p.S914S	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	897							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TAGAGTGATCTGAAACACTAT	0.333																																																	0													74.0	76.0	75.0					2																	135743751		2203	4300	6503	SO:0001819	synonymous_variant	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2691A>G	2.37:g.135743751T>C			B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	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.S897	ENST00000375845.3	37	c.2691	CCDS2176.2	2																																																																																			MAP3K19	-	NULL		0.333	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	T	NM_025052		135743751	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	silent	SNP	0.000	C
MAP3K19	80122	genome.wustl.edu	37	2	135756394	135756394	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:135756394C>A	ENST00000375845.3	-	5	518	c.488G>T	c.(487-489)aGa>aTa	p.R163I	MAP3K19_ENST00000392918.3_Missense_Mutation_p.R163I|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R163I|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R163I|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R180I	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	163							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TAAACAAGATCTTGGTAGCAA	0.423																																																	0													78.0	81.0	80.0					2																	135756394		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.488G>T	2.37:g.135756394C>A	ENSP00000365005:p.Arg163Ile		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	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.R163I	ENST00000375845.3	37	c.488	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485890	0.44147	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915	T;T;T;T;T	0.80909	-1.43;-0.78;-0.73;-0.63;0.9	5.26	1.01	0.19927	.	0.447056	0.19024	N	0.124745	T	0.82061	0.4955	M	0.71581	2.175	0.80722	D	1	P;D;P;D;P;D	0.63880	0.736;0.977;0.925;0.96;0.925;0.993	B;P;P;P;P;P	0.58873	0.221;0.847;0.571;0.731;0.571;0.844	T	0.75542	-0.3281	10	0.26408	T	0.33	.	3.9437	0.09339	0.0:0.4912:0.1743:0.3345	.	163;163;163;180;163;163	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	I	163;163;163;163;180	ENSP00000365005:R163I;ENSP00000365004:R163I;ENSP00000376650:R163I;ENSP00000376649:R163I;ENSP00000376647:R180I	ENSP00000365004:R163I	R	-	2	0	YSK4	135472864	0.458000	0.25760	0.371000	0.25978	0.269000	0.26545	-0.072000	0.11486	-0.005000	0.14395	0.655000	0.94253	AGA	MAP3K19	-	NULL		0.423	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	C	NM_025052		135756394	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	missense	SNP	0.835	A
MAP3K5	4217	genome.wustl.edu	37	6	137041623	137041623	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:137041623A>C	ENST00000359015.4	-	2	913	c.553T>G	c.(553-555)Tgt>Ggt	p.C185G		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	185					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTAGTATCACAGTAGAGGATG	0.478																																																	0													227.0	189.0	202.0					6																	137041623		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.553T>G	6.37:g.137041623A>C	ENSP00000351908:p.Cys185Gly		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,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.C185G	ENST00000359015.4	37	c.553	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	A	15.75	2.924860	0.52759	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.09445	2.98	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	L	0.56769	1.78	0.80722	D	1	P;D;D	0.89917	0.866;1.0;0.999	P;D;D	0.87578	0.665;0.998;0.996	T	0.01256	-1.1404	10	0.30078	T	0.28	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	265;30;185	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	G	185;265	ENSP00000351908:C185G	ENSP00000351908:C185G	C	-	1	0	MAP3K5	137083316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.997000	0.70646	2.308000	0.77769	0.533000	0.62120	TGT	MAP3K5	-	NULL		0.478	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	A			137041623	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	C
MAP3K4	4216	genome.wustl.edu	37	6	161470031	161470031	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:161470031G>T	ENST00000392142.4	+	3	875	c.727G>T	c.(727-729)Gac>Tac	p.D243Y	MAP3K4_ENST00000348824.7_Missense_Mutation_p.D243Y|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D243Y|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D243Y	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	243					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAAGAAAAAAGACAGGGAGCA	0.443																																																	0													44.0	44.0	44.0					6																	161470031		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.727G>T	6.37:g.161470031G>T	ENSP00000375986:p.Asp243Tyr		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	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.D243Y	ENST00000392142.4	37	c.727	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488741	0.84962	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.14	6.14	0.99180	.	0.059810	0.64402	D	0.000003	T	0.74084	0.3670	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.67145	0.995;0.996	P;P	0.61800	0.894;0.851	T	0.74890	-0.3510	10	0.72032	D	0.01	-41.4869	20.819	0.99723	0.0:0.0:1.0:0.0	.	243;243	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	Y	243	ENSP00000355886:D243Y;ENSP00000375986:D243Y;ENSP00000355887:D243Y;ENSP00000297332:D243Y	ENSP00000297332:D243Y	D	+	1	0	MAP3K4	161390021	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.432000	0.97498	2.927000	0.99377	0.637000	0.83480	GAC	MAP3K4	-	NULL		0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	G			161470031	+1	no_errors	ENST00000392142	ensembl	human	known	70_37	missense	SNP	1.000	T
MAP4K4	9448	genome.wustl.edu	37	2	102501684	102501684	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:102501684T>G	ENST00000347699.4	+	26	3121	c.3121T>G	c.(3121-3123)Ttg>Gtg	p.L1041V	MAP4K4_ENST00000350878.4_Missense_Mutation_p.L1081V|MAP4K4_ENST00000350198.4_Missense_Mutation_p.L960V|MAP4K4_ENST00000324219.4_Missense_Mutation_p.L1122V|MAP4K4_ENST00000456652.1_Missense_Mutation_p.L840V|MAP4K4_ENST00000413150.2_Missense_Mutation_p.L956V|MAP4K4_ENST00000302217.5_Missense_Mutation_p.L844V|MAP4K4_ENST00000425019.1_Missense_Mutation_p.L1074V	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1041	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGTGATTGCTTTGAAGAGTTC	0.363																																																	0													75.0	70.0	71.0					2																	102501684		1834	4089	5923	SO:0001583	missense	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3121T>G	2.37:g.102501684T>G	ENSP00000314363:p.Leu1041Val		O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L1122V	ENST00000347699.4	37	c.3364	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.99|19.99	3.928039|3.928039	0.73327|0.73327	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000421882|ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	.|T;T;T;T;T;T;T;T;T	.|0.04317	.|3.65;3.65;3.65;3.65;3.65;3.65;3.65;3.65;3.65	6.02|6.02	2.42|2.42	0.29668|0.29668	.|Citron-like (3);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.17195|0.17195	0.0413|0.0413	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D;D;P;P;D;P;B;D;D;P	.|0.67145	.|0.992;0.979;0.752;0.843;0.974;0.608;0.425;0.974;0.996;0.918	.|D;D;P;P;D;P;B;D;D;P	.|0.76071	.|0.987;0.982;0.739;0.56;0.969;0.672;0.19;0.969;0.968;0.71	T|T	0.00092|0.00092	-1.2083|-1.2083	5|10	.|0.52906	.|T	.|0.07	.|.	9.454|9.454	0.38743|0.38743	0.0:0.198:0.0:0.802|0.0:0.198:0.0:0.802	.|.	.|1081;1037;840;844;959;1041;1074;960;1013;1122	.|B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.|.;.;.;.;.;M4K4_HUMAN;.;.;.;.	C|V	857|1074;1122;960;844;956;840;1041;972;1081	.|ENSP00000392830:L1074V;ENSP00000313644:L1122V;ENSP00000281111:L960V;ENSP00000303600:L844V;ENSP00000389752:L956V;ENSP00000387370:L840V;ENSP00000314363:L1041V;ENSP00000409720:L972V;ENSP00000343658:L1081V	.|ENSP00000303600:L844V	F|L	+|+	2|1	0|2	MAP4K4|MAP4K4	101868116|101868116	0.802000|0.802000	0.28943|0.28943	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.383000|0.383000	0.20651|0.20651	0.185000|0.185000	0.20105|0.20105	0.528000|0.528000	0.53228|0.53228	TTT|TTG	MAP4K4	-	pfam_Citron,smart_Citron		0.363	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	T	NM_004834		102501684	+1	no_errors	ENST00000324219	ensembl	human	known	70_37	missense	SNP	0.996	G
MAP7	9053	genome.wustl.edu	37	6	136683707	136683707	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:136683707A>C	ENST00000354570.3	-	11	1817	c.1407T>G	c.(1405-1407)acT>acG	p.T469T	MAP7_ENST00000454590.1_Silent_p.T491T|MAP7_ENST00000438100.2_Silent_p.T454T|MAP7_ENST00000544465.1_Silent_p.T454T|MAP7_ENST00000432797.2_Silent_p.T323T|RP3-406A7.3_ENST00000571188.1_RNA	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	469					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGCCTGCAGAAGTCTTAACAG	0.632																																																	0													67.0	66.0	66.0					6																	136683707		2203	4300	6503	SO:0001819	synonymous_variant	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1407T>G	6.37:g.136683707A>C			B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	pfam_E-MAP-115	p.T491	ENST00000354570.3	37	c.1473	CCDS5178.1	6																																																																																			MAP7	-	pfam_E-MAP-115		0.632	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	A	NM_003980		136683707	-1	no_errors	ENST00000454590	ensembl	human	known	70_37	silent	SNP	0.992	C
MAP7D3	79649	genome.wustl.edu	37	X	135323432	135323432	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:135323432T>G	ENST00000316077.9	-	5	642	c.422A>C	c.(421-423)aAa>aCa	p.K141T	MAP7D3_ENST00000370663.5_Missense_Mutation_p.K123T|MAP7D3_ENST00000370661.1_Missense_Mutation_p.K141T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	141					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GGCTGTAAATTTTTCCTATTT	0.318																																																	0													38.0	33.0	35.0					X																	135323432		1799	4064	5863	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.422A>C	X.37:g.135323432T>G	ENSP00000318086:p.Lys141Thr		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	pfam_E-MAP-115	p.K123T	ENST00000316077.9	37	c.368	CCDS44004.1	X	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622473	0.46840	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.04234	3.67;3.67;3.67;3.67	5.15	-3.15	0.05233	.	.	.	.	.	T	0.09202	0.0227	L	0.27053	0.805	0.09310	N	1	D;D;D;D	0.76494	0.998;0.995;0.996;0.999	P;P;P;D	0.65233	0.859;0.881;0.859;0.933	T	0.11060	-1.0603	9	0.52906	T	0.07	-10.1528	12.2182	0.54418	0.0:0.5668:0.0:0.4332	.	123;141;141;141	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	T	141;141;123;141	ENSP00000359695:K141T;ENSP00000318086:K141T;ENSP00000359697:K123T;ENSP00000359694:K141T	ENSP00000318086:K141T	K	-	2	0	MAP7D3	135151098	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.908000	0.04063	-1.178000	0.02741	0.437000	0.28790	AAA	MAP7D3	-	NULL		0.318	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	HGNC	protein_coding	OTTHUMT00000058487.2	T			135323432	-1	no_errors	ENST00000370663	ensembl	human	known	70_37	missense	SNP	0.000	G
MAP9	79884	genome.wustl.edu	37	4	156296145	156296145	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:156296145C>T	ENST00000311277.4	-	3	367	c.104G>A	c.(103-105)cGc>cAc	p.R35H	MAP9_ENST00000515654.1_Missense_Mutation_p.R35H|MAP9_ENST00000379248.2_5'UTR|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	35					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCTGGCTGAGCGAGCTGTAAT	0.373																																																	0													164.0	149.0	154.0					4																	156296145		2203	4300	6503	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.104G>A	4.37:g.156296145C>T	ENSP00000310593:p.Arg35His		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	NULL	p.R35H	ENST00000311277.4	37	c.104	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378350	0.82682	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.09817	2.94;2.94;2.94	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000004	T	0.33265	0.0857	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	P;D;D	0.87578	0.754;0.998;0.998	T	0.03957	-1.0989	10	0.87932	D	0	-5.5136	14.2752	0.66175	0.0:1.0:0.0:0.0	.	35;35;35	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	H	35	ENSP00000310593:R35H;ENSP00000427402:R35H;ENSP00000394048:R35H	ENSP00000310593:R35H	R	-	2	0	MAP9	156515595	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.072000	0.57563	2.428000	0.82296	0.655000	0.94253	CGC	MAP9	-	NULL		0.373	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	C	NM_001039580		156296145	-1	no_errors	ENST00000311277	ensembl	human	known	70_37	missense	SNP	0.987	T
MAPK6	5597	genome.wustl.edu	37	15	52338060	52338060	+	De_novo_Start_OutOfFrame	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:52338060T>G	ENST00000261845.5	+	0	210				MAPK6_ENST00000558841.1_3'UTR	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6						cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GTAGCTTTGATTGTGATTGTG	0.418																																																	0																																												5597			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.-598T>G	15.37:g.52338060T>G			B2R945|B5BU65|Q68DH4|Q8IYN8	RNA	SNP	-	NULL	ENST00000261845.5	37	NULL	CCDS10147.1	15																																																																																			MAPK6	-	-		0.418	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	HGNC	protein_coding	OTTHUMT00000254841.2	T	NM_002748		52338060	+1	no_errors	ENST00000558063	ensembl	human	putative	70_37	rna	SNP	1.000	G
MBD4	8930	genome.wustl.edu	37	3	129155555	129155555	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:129155555T>G	ENST00000249910.1	-	3	1107	c.932A>C	c.(931-933)aAa>aCa	p.K311T	MBD4_ENST00000503197.1_Missense_Mutation_p.K311T|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.K311T|MBD4_ENST00000429544.2_Missense_Mutation_p.K311T|MBD4_ENST00000509587.1_Intron	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	311					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTCTTTTTTTTTTACAAGGCT	0.378								Base excision repair (BER), DNA glycosylases																																									0													73.0	80.0	78.0					3																	129155555		2202	4299	6501	SO:0001583	missense	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.932A>C	3.37:g.129155555T>G	ENSP00000249910:p.Lys311Thr		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_integrase-typ,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd	p.K311T	ENST00000249910.1	37	c.932	CCDS3058.1	3	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096825	0.36952	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.93659	-3.05;-3.06;-3.26;-3.26	5.57	1.74	0.24563	.	2.014050	0.03833	U	0.269315	D	0.86636	0.5980	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.27932	0.123;0.115;0.194;0.07	B;B;B;B	0.23419	0.021;0.046;0.046;0.021	T	0.75803	-0.3189	10	0.18276	T	0.48	.	4.2289	0.10594	0.0:0.1809:0.1747:0.6444	.	311;311;311;311	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	T	311	ENSP00000394080:K311T;ENSP00000249910:K311T;ENSP00000424873:K311T;ENSP00000422327:K311T	ENSP00000249910:K311T	K	-	2	0	MBD4	130638245	0.000000	0.05858	0.010000	0.14722	0.365000	0.29674	0.292000	0.19011	0.948000	0.37687	0.529000	0.55759	AAA	MBD4	-	pirsf_Me_CpG-bd_MBD4		0.378	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBD4	HGNC	protein_coding	OTTHUMT00000355529.1	T	NM_003925		129155555	-1	no_errors	ENST00000249910	ensembl	human	known	70_37	missense	SNP	0.005	G
MBD5	55777	genome.wustl.edu	37	2	149226300	149226300	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:149226300C>A	ENST00000407073.1	+	9	1785	c.788C>A	c.(787-789)tCt>tAt	p.S263Y	MBD5_ENST00000404807.1_Missense_Mutation_p.S263Y	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	263					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCTCCCAATTCTAGTCCTATT	0.443																																																	0													91.0	97.0	95.0					2																	149226300		2203	4300	6503	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.788C>A	2.37:g.149226300C>A	ENSP00000386049:p.Ser263Tyr		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.S263Y	ENST00000407073.1	37	c.788	CCDS33302.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.027414|3.027414	0.54683|0.54683	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.48522	.|0.81;0.81	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.52996|0.52996	0.1769|0.1769	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.69078	.|0.997	.|D	.|0.66497	.|0.944	T|T	0.61317|0.61317	-0.7087|-0.7087	5|10	.|0.72032	.|D	.|0.01	-5.7879|-5.7879	19.0076|19.0076	0.92857|0.92857	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|263	.|Q9P267	.|MBD5_HUMAN	I|Y	3|263	.|ENSP00000386049:S263Y;ENSP00000384672:S263Y	.|ENSP00000384672:S263Y	L|S	+|+	1|2	2|0	MBD5|MBD5	148942770|148942770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.445000|7.445000	0.80570|0.80570	2.571000|2.571000	0.86741|0.86741	0.591000|0.591000	0.81541|0.81541	CTA|TCT	MBD5	-	NULL		0.443	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	C			149226300	+1	no_errors	ENST00000407073	ensembl	human	known	70_37	missense	SNP	1.000	A
MC5R	4161	genome.wustl.edu	37	18	13825791	13825791	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:13825791C>A	ENST00000324750.3	+	1	249	c.27C>A	c.(25-27)ttC>ttA	p.F9L	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	9					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ACCTGCATTTCTTGGATCTCA	0.418																																																	0													88.0	86.0	87.0					18																	13825791		2203	4300	6503	SO:0001583	missense	4161			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.27C>A	18.37:g.13825791C>A	ENSP00000318077:p.Phe9Leu		B0YJ34|Q502V1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.F9L	ENST00000324750.3	37	c.27	CCDS11868.1	18	.	.	.	.	.	.	.	.	.	.	C	8.305	0.820730	0.16678	.	.	ENSG00000176136	ENST00000324750	T	0.35789	1.29	5.39	2.51	0.30379	.	1.016950	0.07833	N	0.961735	T	0.15003	0.0362	N	0.08118	0	0.21220	N	0.999758	B	0.02656	0.0	B	0.04013	0.001	T	0.31475	-0.9942	10	0.02654	T	1	.	4.071	0.09882	0.1603:0.5065:0.0:0.3333	.	9	P33032	MC5R_HUMAN	L	9	ENSP00000318077:F9L	ENSP00000318077:F9L	F	+	3	2	MC5R	13815791	0.019000	0.18553	0.878000	0.34440	0.658000	0.38924	0.056000	0.14256	0.201000	0.20466	0.455000	0.32223	TTC	MC5R	-	prints_Melancort_rcpt_5		0.418	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC5R	HGNC	protein_coding	OTTHUMT00000254638.1	C	NM_005913		13825791	+1	no_errors	ENST00000324750	ensembl	human	known	70_37	missense	SNP	0.806	A
MCF2L2	23101	genome.wustl.edu	37	3	182933869	182933869	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:182933869C>A	ENST00000328913.3	-	22	2681	c.2384G>T	c.(2383-2385)aGa>aTa	p.R795I	MCF2L2_ENST00000473233.1_Missense_Mutation_p.R795I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	795	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATCTTTGGTTCTCTTTGGCCC	0.448																																																	0													239.0	213.0	222.0					3																	182933869		2203	4300	6503	SO:0001583	missense	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2384G>T	3.37:g.182933869C>A	ENSP00000328118:p.Arg795Ile		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_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.R795I	ENST00000328913.3	37	c.2384	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986357	0.35036	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.41758	0.99;0.99	4.29	0.391	0.16282	Dbl homology (DH) domain (4);	0.110880	0.56097	D	0.000030	T	0.26846	0.0657	L	0.39898	1.24	0.58432	D	0.999995	B	0.30068	0.267	B	0.27380	0.079	T	0.05435	-1.0885	10	0.72032	D	0.01	.	3.4363	0.07446	0.1778:0.5235:0.0:0.2987	.	795	Q86YR7	MF2L2_HUMAN	I	795	ENSP00000328118:R795I;ENSP00000420070:R795I	ENSP00000328118:R795I	R	-	2	0	MCF2L2	184416563	0.745000	0.28261	0.702000	0.30337	0.502000	0.33828	-0.257000	0.08745	-0.037000	0.13646	-0.136000	0.14681	AGA	MCF2L2	-	superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.448	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	C	NM_015078		182933869	-1	no_errors	ENST00000328913	ensembl	human	known	70_37	missense	SNP	0.858	A
MCM8	84515	genome.wustl.edu	37	20	5965590	5965590	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:5965590T>C	ENST00000378896.3	+	15	2274	c.1897T>C	c.(1897-1899)Tca>Cca	p.S633P	MCM8_ENST00000378883.1_Missense_Mutation_p.S586P|MCM8_ENST00000265187.4_Missense_Mutation_p.S617P|MCM8_ENST00000378886.2_Missense_Mutation_p.S673P	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	633					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TAGTCAAGATTCAAATACTTC	0.373																																																	0													97.0	93.0	94.0					20																	5965590		2203	4300	6503	SO:0001583	missense	84515			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1897T>C	20.37:g.5965590T>C	ENSP00000368174:p.Ser633Pro		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.S673P	ENST00000378896.3	37	c.2017	CCDS13094.1	20	.	.	.	.	.	.	.	.	.	.	T	8.970	0.972734	0.18736	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.03094	4.13;4.05;4.13;4.13	5.78	4.69	0.59074	.	0.355498	0.30365	N	0.009799	T	0.05547	0.0146	M	0.64676	1.99	0.39963	D	0.974693	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.11329	0.0;0.006;0.001;0.001	T	0.22941	-1.0202	10	0.31617	T	0.26	-6.8792	9.6631	0.39967	0.0:0.1509:0.0:0.8491	.	586;673;617;633	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	P	633;586;673;617	ENSP00000368174:S633P;ENSP00000368161:S586P;ENSP00000368164:S673P;ENSP00000265187:S617P	ENSP00000265187:S617P	S	+	1	0	MCM8	5913590	0.999000	0.42202	0.994000	0.49952	0.117000	0.20001	1.572000	0.36461	1.129000	0.42072	0.482000	0.46254	TCA	MCM8	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase		0.373	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	HGNC	protein_coding	OTTHUMT00000077900.1	T	NM_032485		5965590	+1	no_errors	ENST00000378886	ensembl	human	known	70_37	missense	SNP	0.991	C
MCM9	254394	genome.wustl.edu	37	6	119136036	119136036	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:119136036T>C	ENST00000316316.6	-	13	3669	c.3383A>G	c.(3382-3384)gAt>gGt	p.D1128G		NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	1128					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AAATGCTTCATCACCTAGTTC	0.428																																																	0																																										SO:0001583	missense	254394			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.3383A>G	6.37:g.119136036T>C	ENSP00000314505:p.Asp1128Gly		B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.D1128G	ENST00000316316.6	37	c.3383	CCDS56447.1	6	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690668	0.68271	.	.	ENSG00000111877	ENST00000316316	T	0.14516	2.5	6.17	6.17	0.99709	.	443.696000	0.01558	U	0.019999	T	0.34395	0.0896	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00148	-1.1989	10	0.87932	D	0	.	15.3933	0.74767	0.0:0.0:0.0:1.0	.	1128	Q9NXL9	MCM9_HUMAN	G	1128	ENSP00000314505:D1128G	ENSP00000314505:D1128G	D	-	2	0	MCM9	119242739	1.000000	0.71417	0.996000	0.52242	0.326000	0.28443	3.571000	0.53841	2.371000	0.80710	0.533000	0.62120	GAT	MCM9	-	NULL		0.428	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM9	HGNC	protein_coding	OTTHUMT00000042005.4	T	NM_153255		119136036	-1	no_errors	ENST00000316316	ensembl	human	known	70_37	missense	SNP	1.000	C
MDGA2	161357	genome.wustl.edu	37	14	47601038	47601038	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:47601038C>A	ENST00000399232.2	-	5	961	c.597G>T	c.(595-597)aaG>aaT	p.K199N	MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.K268N	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	199	Ig-like 2.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K268K(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTTTTAAGATCTTTGTTTCAC	0.328																																																	1	Substitution - coding silent(1)	lung(1)											153.0	119.0	130.0					14																	47601038		692	1589	2281	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.597G>T	14.37:g.47601038C>A	ENSP00000382178:p.Lys199Asn		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.K268N	ENST00000399232.2	37	c.804		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.67|18.67	3.673731|3.673731	0.67928|0.67928	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000399232	.|T;T	.|0.03035	.|4.07;4.07	5.34|5.34	3.49|3.49	0.39957|0.39957	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.53938	.|U	.|0.000054	T|T	0.10423|0.10423	0.0255|0.0255	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D	.|0.54601	.|0.967	.|P	.|0.58391	.|0.838	T|T	0.02257|0.02257	-1.1187|-1.1187	5|10	.|0.59425	.|D	.|0.04	.|.	11.551|11.551	0.50721|0.50721	0.0:0.8431:0.0:0.1569|0.0:0.8431:0.0:0.1569	.|.	.|199	.|Q7Z553	.|MDGA2_HUMAN	Y|N	2|199;268	.|ENSP00000400011:K199N;ENSP00000382178:K268N	.|ENSP00000382178:K268N	D|K	-|-	1|3	0|2	MDGA2|MDGA2	46670788|46670788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.922000|2.922000	0.48860|0.48860	1.390000|1.390000	0.46547|0.46547	0.585000|0.585000	0.79938|0.79938	GAT|AAG	MDGA2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.328	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	C	NM_182830		47601038	-1	no_errors	ENST00000399232	ensembl	human	known	70_37	missense	SNP	1.000	A
MDH1B	130752	genome.wustl.edu	37	2	207622051	207622051	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:207622051C>A	ENST00000374412.3	-	3	455	c.180G>T	c.(178-180)aaG>aaT	p.K60N	MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000392214.2_Missense_Mutation_p.K60N|MDH1B_ENST00000454776.2_Missense_Mutation_p.K60N	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	60					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.K60N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TAGGGGAATTCTTGTGACTCC	0.398																																					Pancreas(76;29 1355 28675 37177 51207)												1	Substitution - Missense(1)	lung(1)											131.0	128.0	129.0					2																	207622051		2203	4300	6503	SO:0001583	missense	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.180G>T	2.37:g.207622051C>A	ENSP00000363533:p.Lys60Asn		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.K60N	ENST00000374412.3	37	c.180	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720868	0.15372	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	T;T;T	0.60424	0.19;0.19;0.19	5.84	-0.749	0.11084	.	0.639143	0.17561	N	0.169802	T	0.31544	0.0800	N	0.16478	0.41	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.13407	0.009;0.004	T	0.08513	-1.0718	10	0.29301	T	0.29	-7.7597	2.7856	0.05373	0.1225:0.3726:0.1262:0.3787	.	60;60	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	N	60	ENSP00000363533:K60N;ENSP00000389916:K60N;ENSP00000376049:K60N	ENSP00000363533:K60N	K	-	3	2	MDH1B	207330296	0.000000	0.05858	0.001000	0.08648	0.666000	0.39218	-1.125000	0.03257	-0.345000	0.08325	0.655000	0.94253	AAG	MDH1B	-	NULL		0.398	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	C	NM_001039845		207622051	-1	no_errors	ENST00000374412	ensembl	human	known	70_37	missense	SNP	0.002	A
MDM2	4193	genome.wustl.edu	37	12	69210688	69210688	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:69210688T>G	ENST00000350057.5	+	2	178	c.178T>G	c.(178-180)Ttg>Gtg	p.L60V	MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.L85V|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.L91V|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.L91V|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	85	Necessary for interaction with USP2.|SWIB.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCTAGGAGATTTGTTTGGCGT	0.363			A		"""sarcoma, glioma, colorectal, other"""																																			Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"""M, O, E, L"""	0													99.0	93.0	95.0					12																	69210688		1839	4087	5926	SO:0001583	missense	4193				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.178T>G	12.37:g.69210688T>G	ENSP00000266624:p.Leu60Val		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.L91V	ENST00000350057.5	37	c.271		12	.	.	.	.	.	.	.	.	.	.	T	8.679	0.904774	0.17760	.	.	ENSG00000135679	ENST00000462284;ENST00000258149;ENST00000311440;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000393416;ENST00000350057	T;T;T;T;T	0.50548	1.37;0.91;0.91;0.74;1.41	5.22	0.321	0.15883	SWIB/MDM2 domain (2);	0.142348	0.47093	N	0.000245	T	0.32285	0.0824	L	0.31664	0.95	0.80722	D	1	B;B;B;B	0.22080	0.002;0.007;0.064;0.001	B;B;B;B	0.35312	0.021;0.071;0.2;0.017	T	0.03651	-1.1016	9	.	.	.	-7.9806	4.6884	0.12769	0.0:0.4062:0.1933:0.4005	.	85;91;85;91	Q00987;G3XA89;Q8NDW2;Q00987-11	MDM2_HUMAN;.;.;.	V	91;85;85;91;85;85;116;60	ENSP00000417281:L91V;ENSP00000258149:L85V;ENSP00000258148:L91V;ENSP00000444430:L85V;ENSP00000266624:L60V	.	L	+	1	2	MDM2	67496955	1.000000	0.71417	0.999000	0.59377	0.451000	0.32288	0.931000	0.28871	0.151000	0.19162	-0.371000	0.07208	TTG	MDM2	-	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4		0.363	MDM2-033	NOVEL	basic|exp_conf	protein_coding	MDM2	HGNC	protein_coding	OTTHUMT00000402665.1	T	NM_006880		69210688	+1	no_errors	ENST00000462284	ensembl	human	known	70_37	missense	SNP	0.996	G
ME1	4199	genome.wustl.edu	37	6	83933564	83933564	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:83933564G>T	ENST00000369705.3	-	12	1480	c.1364C>A	c.(1363-1365)tCc>tAc	p.S455Y	ME1_ENST00000543031.1_Missense_Mutation_p.S380Y|ME1_ENST00000541327.1_Missense_Mutation_p.S289Y	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	455					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		GAACACATAGGAATTGTTGCC	0.453																																																	0													109.0	94.0	99.0					6																	83933564		2203	4300	6503	SO:0001583	missense	4199			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1364C>A	6.37:g.83933564G>T	ENSP00000358719:p.Ser455Tyr		B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.S455Y	ENST00000369705.3	37	c.1364	CCDS34492.1	6	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009247	0.93346	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.31769	1.48;1.48;1.48	5.8	5.8	0.92144	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.056142	0.64402	D	0.000001	T	0.59985	0.2234	M	0.90483	3.12	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.67780	-0.5582	10	0.87932	D	0	-9.9161	20.0589	0.97667	0.0:0.0:1.0:0.0	.	455	P48163	MAOX_HUMAN	Y	455;115;289;380	ENSP00000358719:S455Y;ENSP00000439912:S289Y;ENSP00000446114:S380Y	ENSP00000358719:S455Y	S	-	2	0	ME1	83990283	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.835000	0.99442	2.732000	0.93576	0.650000	0.86243	TCC	ME1	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd		0.453	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME1	HGNC	protein_coding	OTTHUMT00000041350.1	G			83933564	-1	no_errors	ENST00000369705	ensembl	human	known	70_37	missense	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90394655	90394655	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:90394655G>T	ENST00000369393.3	-	71	11884	c.11769C>A	c.(11767-11769)ttC>ttA	p.F3923L	MDN1_ENST00000428876.1_Missense_Mutation_p.F3923L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3923					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)		CCCGGTCAAAGAATTGCTTGT	0.403																																																	0													56.0	59.0	58.0					6																	90394655		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.11769C>A	6.37:g.90394655G>T	ENSP00000358400:p.Phe3923Leu		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.F3923L	ENST00000369393.3	37	c.11769	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178668	0.57692	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.56941	0.43;0.43	5.89	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.84433	2.695	0.45914	D	0.998751	D	0.69078	0.997	D	0.75020	0.985	T	0.71846	-0.4469	10	0.72032	D	0.01	.	9.0164	0.36173	0.2127:0.0:0.7873:0.0	.	3923	Q9NU22	MDN1_HUMAN	L	3923	ENSP00000358400:F3923L;ENSP00000413970:F3923L	ENSP00000358400:F3923L	F	-	3	2	MDN1	90451376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.704000	0.47118	1.463000	0.47967	0.655000	0.94253	TTC	MDN1	-	pirsf_Midasin		0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	G			90394655	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	T
ME2	4200	genome.wustl.edu	37	18	48446854	48446854	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:48446854G>A	ENST00000321341.5	+	8	1035	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ME2_ENST00000382927.3_Missense_Mutation_p.E255K	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	255					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CATTCAGTTCGAAGACTTTGG	0.338																																																	0													82.0	79.0	80.0					18																	48446854		2203	4300	6503	SO:0001583	missense	4200			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.763G>A	18.37:g.48446854G>A	ENSP00000321070:p.Glu255Lys		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.E255K	ENST00000321341.5	37	c.763	CCDS11948.1	18	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792285	0.70452	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.69926	-0.44;-0.44	5.75	4.88	0.63580	Malic enzyme, N-terminal (2);	0.093379	0.64402	D	0.000001	D	0.84817	0.5556	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88209	0.2889	10	0.87932	D	0	-32.7179	13.8913	0.63740	0.0746:0.0:0.9254:0.0	.	255;255	Q9BWL6;P23368	.;MAOM_HUMAN	K	255	ENSP00000321070:E255K;ENSP00000372384:E255K	ENSP00000321070:E255K	E	+	1	0	ME2	46700852	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	9.843000	0.99491	1.446000	0.47643	-0.157000	0.13467	GAA	ME2	-	pfam_Malic_N,prints_Malic_OxRdtase		0.338	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	G	NM_002396		48446854	+1	no_errors	ENST00000321341	ensembl	human	known	70_37	missense	SNP	1.000	A
MECR	51102	genome.wustl.edu	37	1	29533354	29533354	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:29533354G>A	ENST00000263702.6	-	4	495	c.470C>T	c.(469-471)cCt>cTt	p.P157L	MECR_ENST00000373791.3_Missense_Mutation_p.P81L|MECR_ENST00000489248.1_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	157					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GCTCTGAAGAGGGATGTCACT	0.562																																																	0													146.0	119.0	128.0					1																	29533354		2203	4300	6503	SO:0001583	missense	51102				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.470C>T	1.37:g.29533354G>A	ENSP00000263702:p.Pro157Leu		B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.P157L	ENST00000263702.6	37	c.470	CCDS30659.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891355	0.91889	.	.	ENSG00000116353	ENST00000373791;ENST00000263702;ENST00000373792	T;T	0.31510	1.49;1.49	5.89	5.89	0.94794	GroES-like (1);	0.095726	0.64402	D	0.000001	T	0.50922	0.1644	M	0.93720	3.45	0.80722	D	1	P	0.47910	0.902	B	0.42798	0.398	T	0.65500	-0.6153	10	0.59425	D	0.04	.	17.7556	0.88447	0.0:0.0:1.0:0.0	.	157	Q9BV79	MECR_HUMAN	L	81;157;69	ENSP00000362896:P81L;ENSP00000263702:P157L	ENSP00000263702:P157L	P	-	2	0	MECR	29405941	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	8.813000	0.91963	2.793000	0.96121	0.655000	0.94253	CCT	MECR	-	superfamily_GroES-like,smart_PKS_ER		0.562	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECR	HGNC	protein_coding	OTTHUMT00000130740.1	G	NM_016011		29533354	-1	no_errors	ENST00000263702	ensembl	human	known	70_37	missense	SNP	1.000	A
MED11	400569	genome.wustl.edu	37	17	4634813	4634813	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:4634813G>T	ENST00000293777.5	+	1	85	c.29G>T	c.(28-30)aGa>aTa	p.R10I	MED11_ENST00000573708.1_Missense_Mutation_p.R10I|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.R10I|CXCL16_ENST00000576153.1_5'Flank	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	10						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						GCGAACGAGAGACTACGCGCT	0.557											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													96.0	76.0	83.0					17																	4634813		2203	4300	6503	SO:0001583	missense	400569			AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.29G>T	17.37:g.4634813G>T	ENSP00000293777:p.Arg10Ile	620	Q6NS89	Missense_Mutation	SNP	pfam_Mediator_Med11	p.R10I	ENST00000293777.5	37	c.29	CCDS32533.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.448760	0.96205	.	.	ENSG00000161920	ENST00000293777	.	.	.	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000003	T	0.77968	0.4210	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.80531	-0.1341	9	0.87932	D	0	-0.4691	15.5521	0.76161	0.0:0.0:1.0:0.0	.	10	Q9P086	MED11_HUMAN	I	10	.	ENSP00000293777:R10I	R	+	2	0	MED11	4581562	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.241000	0.78201	2.527000	0.85204	0.655000	0.94253	AGA	MED11	-	pfam_Mediator_Med11		0.557	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED11	HGNC	protein_coding	OTTHUMT00000439574.1	G	NM_001001683		4634813	+1	no_errors	ENST00000293777	ensembl	human	known	70_37	missense	SNP	1.000	T
MED14	9282	genome.wustl.edu	37	X	40518558	40518558	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:40518558G>A	ENST00000324817.1	-	28	4011	c.3893C>T	c.(3892-3894)aCg>aTg	p.T1298M		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1298					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|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)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTATTAACGTATTAGCTTT	0.373																																																	0													97.0	73.0	81.0					X																	40518558		2169	4237	6406	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3893C>T	X.37:g.40518558G>A	ENSP00000323720:p.Thr1298Met		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.T1298M	ENST00000324817.1	37	c.3893	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407591	0.83340	.	.	ENSG00000180182	ENST00000324817;ENST00000416199;ENST00000433003	T;T	0.55413	0.52;0.52	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	T	0.70249	-0.4924	10	0.72032	D	0.01	.	18.1643	0.89719	0.0:0.0:1.0:0.0	.	1298;1298	A8KAK5;O60244	.;MED14_HUMAN	M	1298;10;197	ENSP00000323720:T1298M;ENSP00000411357:T197M	ENSP00000323720:T1298M	T	-	2	0	MED14	40403502	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	9.476000	0.97823	2.226000	0.72624	0.600000	0.82982	ACG	MED14	-	NULL		0.373	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	G	NM_004229		40518558	-1	no_errors	ENST00000324817	ensembl	human	known	70_37	missense	SNP	1.000	A
MED14	9282	genome.wustl.edu	37	X	40539379	40539379	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:40539379A>G	ENST00000324817.1	-	21	2735	c.2617T>C	c.(2617-2619)Ttt>Ctt	p.F873L	MED14_ENST00000496531.2_Intron	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	873					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|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)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAGTATCAAACAGTACCTAT	0.423																																																	0													111.0	98.0	102.0					X																	40539379		2203	4300	6503	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2617T>C	X.37:g.40539379A>G	ENSP00000323720:p.Phe873Leu		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.F873L	ENST00000324817.1	37	c.2617	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	A	12.87	2.068411	0.36470	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.9	5.9	0.94986	.	0.183640	0.56097	D	0.000033	T	0.42017	0.1184	N	0.22421	0.69	0.47659	D	0.999489	B	0.12630	0.006	B	0.09377	0.004	T	0.34378	-0.9831	9	0.08837	T	0.75	.	15.2651	0.73654	1.0:0.0:0.0:0.0	.	873	O60244	MED14_HUMAN	L	873	.	ENSP00000323720:F873L	F	-	1	0	MED14	40424323	1.000000	0.71417	0.910000	0.35882	0.954000	0.61252	8.864000	0.92294	1.988000	0.58038	0.481000	0.45027	TTT	MED14	-	NULL		0.423	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	A	NM_004229		40539379	-1	no_errors	ENST00000324817	ensembl	human	known	70_37	missense	SNP	0.990	G
MED12	9968	genome.wustl.edu	37	X	70357069	70357069	+	Missense_Mutation	SNP	C	C	T	rs200279192		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:70357069C>T	ENST00000374080.3	+	39	5616	c.5584C>T	c.(5584-5586)Cgc>Tgc	p.R1862C	MED12_ENST00000333646.6_Missense_Mutation_p.R1862C|MED12_ENST00000374102.1_Missense_Mutation_p.R1862C			Q93074	MED12_HUMAN	mediator complex subunit 12	1862	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCGTCCTGTGCGCTTACCAAT	0.557			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													65.0	63.0	64.0					X																	70357069		2082	4191	6273	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5584C>T	X.37:g.70357069C>T	ENSP00000363193:p.Arg1862Cys		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.R1862C	ENST00000374080.3	37	c.5584	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	-	14.86	2.662360	0.47572	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.59906	0.28;0.27;0.27;0.23;1.33	4.63	2.69	0.31865	Mediator complex, subunit Med12, catenin-binding (1);	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.988;0.993;0.988;0.993	T	0.70081	-0.4970	10	0.59425	D	0.04	-18.2048	13.0808	0.59114	0.2877:0.7123:0.0:0.0	.	1862;1709;1862;1862	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	C	1862;1862;1862;1862;1830;607	ENSP00000333125:R1862C;ENSP00000363215:R1862C;ENSP00000363193:R1862C;ENSP00000414203:R1830C;ENSP00000408388:R607C	ENSP00000333125:R1862C	R	+	1	0	MED12	70273794	1.000000	0.71417	0.960000	0.40013	0.933000	0.57130	0.934000	0.28910	0.862000	0.35528	0.525000	0.51046	CGC	MED12	-	pfam_Mediator_Med12_catenin-bd		0.557	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	C	NM_005120		70357069	+1	no_errors	ENST00000333646	ensembl	human	known	70_37	missense	SNP	0.993	T
MED22	6837	genome.wustl.edu	37	9	136208531	136208531	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:136208531C>T	ENST00000491289.1	-	5	1008	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	MED22_ENST00000343730.5_Missense_Mutation_p.E143K|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000344469.5_3'UTR|MED22_ENST00000476080.1_3'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	143						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TCATTAGCTTCGCAAAGGCTT	0.607																																																	0													54.0	52.0	53.0					9																	136208531		2203	4300	6503	SO:0001583	missense	6837				CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.427G>A	9.37:g.136208531C>T	ENSP00000420393:p.Glu143Lys		B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	pfam_Mediator_Med22	p.E143K	ENST00000491289.1	37	c.427	CCDS6963.1	9	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521654	0.64747	.	.	ENSG00000148297	ENST00000491289;ENST00000343730	.	.	.	4.45	3.55	0.40652	.	0.052555	0.64402	D	0.000001	T	0.22360	0.0539	N	0.14661	0.345	0.80722	D	1	P	0.47545	0.897	B	0.27500	0.08	T	0.08700	-1.0709	9	0.59425	D	0.04	-6.3751	9.832	0.40948	0.0:0.9054:0.0:0.0946	.	143	Q15528	MED22_HUMAN	K	143	.	ENSP00000342343:E143K	E	-	1	0	MED22	135198352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.311000	0.59147	1.100000	0.41517	0.655000	0.94253	GAA	MED22	-	NULL		0.607	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MED22	HGNC	protein_coding	OTTHUMT00000054898.2	C	NM_133640		136208531	-1	no_errors	ENST00000343730	ensembl	human	known	70_37	missense	SNP	1.000	T
MEF2C	4208	genome.wustl.edu	37	5	88100485	88100485	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:88100485T>C	ENST00000437473.2	-	3	605	c.188A>G	c.(187-189)gAc>gGc	p.D63G	MEF2C_ENST00000424173.2_Missense_Mutation_p.D63G|MEF2C_ENST00000506554.1_Missense_Mutation_p.D63G|MEF2C_ENST00000539796.1_Missense_Mutation_p.D63G|MEF2C_ENST00000514028.1_Missense_Mutation_p.D63G|MEF2C_ENST00000510942.1_Missense_Mutation_p.D63G|MEF2C_ENST00000508569.1_Missense_Mutation_p.D63G|MEF2C_ENST00000504921.2_Missense_Mutation_p.D63G|MEF2C_ENST00000340208.5_Missense_Mutation_p.D63G|MEF2C_ENST00000514015.1_Missense_Mutation_p.D63G	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	63					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AAGCACTTTGTCCATGTCGGT	0.532										HNSCC(66;0.2)																																							0													173.0	156.0	162.0					5																	88100485		2203	4300	6503	SO:0001583	missense	4208			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.188A>G	5.37:g.88100485T>C	ENSP00000396219:p.Asp63Gly		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.D63G	ENST00000437473.2	37	c.188	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	T	33	5.207851	0.95033	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.5	5.5	0.81552	Transcription factor, MADS-box (1);	0.000000	0.85682	D	0.000000	D	0.90363	0.6984	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.998;1.0	D;D;D;D	0.97110	0.941;1.0;0.991;0.999	D	0.91494	0.5214	10	0.87932	D	0	-9.3635	15.6133	0.76744	0.0:0.0:0.0:1.0	.	63;63;63;63	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	G	63	ENSP00000340874:D63G;ENSP00000389610:D63G;ENSP00000421925:D63G;ENSP00000426665:D63G;ENSP00000396219:D63G;ENSP00000422390:D63G;ENSP00000425636:D63G;ENSP00000423597:D63G;ENSP00000424606:D63G;ENSP00000441153:D63G;ENSP00000423826:D63G;ENSP00000423656:D63G;ENSP00000424331:D63G;ENSP00000427163:D63G;ENSP00000426442:D63G;ENSP00000427286:D63G;ENSP00000426465:D63G	ENSP00000340874:D63G	D	-	2	0	MEF2C	88136241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.085000	0.62840	0.533000	0.62120	GAC	MEF2C	-	superfamily_TF_MADSbox		0.532	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	T	NM_002397		88100485	-1	no_errors	ENST00000437473	ensembl	human	known	70_37	missense	SNP	1.000	C
MEFV	4210	genome.wustl.edu	37	16	3304167	3304167	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:3304167A>C	ENST00000219596.1	-	2	940	c.901T>G	c.(901-903)Tcg>Gcg	p.S301A	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	301					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						ccggtgacCGAATGTTCTGGA	0.557																																																	0													49.0	52.0	51.0					16																	3304167		2197	4300	6497	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.901T>G	16.37:g.3304167A>C	ENSP00000219596:p.Ser301Ala		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.S301A	ENST00000219596.1	37	c.901	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	A	6.857	0.527426	0.13066	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.70516	-0.49	3.8	1.58	0.23477	.	0.666573	0.12604	N	0.454461	T	0.52581	0.1743	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.33163	-0.9879	10	0.23302	T	0.38	.	5.3485	0.16022	0.7673:0.0:0.2327:0.0	.	301	O15553	MEFV_HUMAN	A	301	ENSP00000219596:S301A	ENSP00000219596:S301A	S	-	1	0	MEFV	3244168	0.002000	0.14202	0.001000	0.08648	0.016000	0.09150	0.553000	0.23391	0.315000	0.23110	-0.250000	0.11733	TCG	MEFV	-	NULL		0.557	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	A	NM_000243		3304167	-1	no_errors	ENST00000219596	ensembl	human	known	70_37	missense	SNP	0.001	C
MEGF8	1954	genome.wustl.edu	37	19	42873722	42873722	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:42873722C>T	ENST00000251268.6	+	38	6681	c.6681C>T	c.(6679-6681)tgC>tgT	p.C2227C	MEGF8_ENST00000334370.4_Silent_p.C2160C|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2227					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCAGGGCTGCGTGAACGGCT	0.657																																																	0													45.0	45.0	45.0					19																	42873722		2203	4299	6502	SO:0001819	synonymous_variant	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6681C>T	19.37:g.42873722C>T			A8KAY0|O75097	Silent	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.C2227	ENST00000251268.6	37	c.6681		19																																																																																			MEGF8	-	smart_EG-like_dom		0.657	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	C	NM_001410		42873722	+1	no_errors	ENST00000251268	ensembl	human	known	70_37	silent	SNP	0.823	T
MEIG1	644890	genome.wustl.edu	37	10	15028921	15028921	+	3'UTR	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:15028921C>T	ENST00000467536.1	+	0	193							Q5JSS6	MEIG1_HUMAN	meiosis/spermiogenesis associated 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				kidney(1)|ovary(1)|prostate(1)	3						TTTCCACATTCTTGATGATGG	0.493																																																	0																																										SO:0001624	3_prime_UTR_variant	644890				CCDS31151.1	10p13	2013-08-05	2013-08-05		ENSG00000197889	ENSG00000197889			23429	protein-coding gene	gene with protein product	"""spermatogenesis associated 39"""	614174	"""meiosis expressed gene 1 homolog (mouse)"""			23258628	Standard	NM_001080836		Approved	bA2K17.3, SPATA39	uc009xjk.1	Q5JSS6	OTTHUMG00000017717	ENST00000467536.1:c.*190C>T	10.37:g.15028921C>T				RNA	SNP	-	NULL	ENST00000467536.1	37	NULL		10																																																																																			MEIG1	-	-		0.493	MEIG1-004	KNOWN	basic	processed_transcript	MEIG1	HGNC	protein_coding	OTTHUMT00000046945.1	C	XM_927975		15028921	+1	no_errors	ENST00000467536	ensembl	human	known	70_37	rna	SNP	0.873	T
MEIS2	4212	genome.wustl.edu	37	15	37388629	37388629	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:37388629T>G	ENST00000561208.1	-	3	666	c.248A>C	c.(247-249)cAc>cCc	p.H83P	MEIS2_ENST00000338564.5_Missense_Mutation_p.H83P|MEIS2_ENST00000424352.2_Missense_Mutation_p.H83P|MEIS2_ENST00000444725.1_Missense_Mutation_p.H83P|MEIS2_ENST00000397620.2_Intron|MEIS2_ENST00000340545.5_Missense_Mutation_p.H70P|MEIS2_ENST00000559561.1_Missense_Mutation_p.H83P|MEIS2_ENST00000559085.1_Missense_Mutation_p.H70P|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000557796.2_Missense_Mutation_p.H70P|MEIS2_ENST00000382766.2_Missense_Mutation_p.H83P|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000397624.3_Intron			O14770	MEIS2_HUMAN	Meis homeobox 2	83	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AAACAACGGGTGCCTAACGGG	0.597																																																	0													55.0	55.0	55.0					15																	37388629		2201	4297	6498	SO:0001583	missense	4212			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.248A>C	15.37:g.37388629T>G	ENSP00000453793:p.His83Pro		A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.H83P	ENST00000561208.1	37	c.248	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789800	0.90367	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624	T;T;T;T;T;T	0.33654	1.48;1.4;1.4;1.48;1.48;1.48	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;0.999;0.999	T	0.73030	-0.4111	10	0.87932	D	0	-7.3499	15.8581	0.79000	0.0:0.0:0.0:1.0	.	70;83;83;83;83;70	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP98	.;.;MEIS2_HUMAN;.;.;.	P	83;83;83;83;83;70;70	ENSP00000326296:H83P;ENSP00000341400:H83P;ENSP00000372216:H83P;ENSP00000404185:H83P;ENSP00000391887:H83P;ENSP00000339549:H70P	ENSP00000326296:H83P	H	-	2	0	MEIS2	35175921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.012000	0.88631	2.138000	0.66242	0.528000	0.53228	CAC	MEIS2	-	NULL		0.597	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	T	NM_170677		37388629	-1	no_errors	ENST00000561208	ensembl	human	known	70_37	missense	SNP	1.000	G
MEP1A	4224	genome.wustl.edu	37	6	46803277	46803277	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:46803277C>T	ENST00000230588.4	+	13	2084	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	692	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A692E(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AAGGGGATGGCGAGCTGCAGG	0.592																																																	1	Substitution - Missense(1)	lung(1)											30.0	25.0	27.0					6																	46803277		2202	4300	6502	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2075C>T	6.37:g.46803277C>T	ENSP00000230588:p.Ala692Val		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.A692V	ENST00000230588.4	37	c.2075	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602893	0.46423	.	.	ENSG00000112818	ENST00000230588	D	0.92299	-3.01	5.72	4.86	0.63082	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.141041	0.64402	N	0.000005	D	0.86606	0.5973	M	0.80028	2.48	0.54753	D	0.999982	B;B	0.33857	0.429;0.156	B;B	0.25614	0.062;0.044	D	0.86868	0.2034	10	0.48119	T	0.1	-13.9181	11.8202	0.52235	0.0:0.8594:0.0:0.1406	.	720;692	B7ZL91;Q16819	.;MEP1A_HUMAN	V	692	ENSP00000230588:A692V	ENSP00000230588:A692V	A	+	2	0	MEP1A	46911236	0.988000	0.35896	0.992000	0.48379	0.885000	0.51271	2.802000	0.47916	1.439000	0.47511	0.650000	0.86243	GCG	MEP1A	-	pfam_EG-like_dom,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom		0.592	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	C	NM_005588		46803277	+1	no_errors	ENST00000230588	ensembl	human	known	70_37	missense	SNP	0.982	T
MEP1B	4225	genome.wustl.edu	37	18	29793309	29793309	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:29793309T>G	ENST00000269202.6	+	11	1413	c.1366T>G	c.(1366-1368)Tct>Gct	p.S456A	MEP1B_ENST00000581447.1_Missense_Mutation_p.S456A	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	456	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATTTTACTCTTCTAAAGGTTA	0.403																																																	0													84.0	78.0	80.0					18																	29793309		1874	4103	5977	SO:0001583	missense	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1366T>G	18.37:g.29793309T>G	ENSP00000269202:p.Ser456Ala		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom,prints_Peptidase_M12A,prints_MAM_dom	p.S456A	ENST00000269202.6	37	c.1366	CCDS45846.1	18	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432508	0.43224	.	.	ENSG00000141434	ENST00000269202	T	0.46819	0.86	5.68	-3.71	0.04424	TRAF-type (1);TRAF-like (1);MATH (3);	0.675819	0.15932	N	0.237637	T	0.45597	0.1350	M	0.74881	2.28	0.22127	N	0.999341	B	0.30511	0.282	B	0.37731	0.257	T	0.50759	-0.8790	10	0.41790	T	0.15	-3.9632	8.6364	0.33950	0.2316:0.576:0.0:0.1923	.	456	Q16820	MEP1B_HUMAN	A	456	ENSP00000269202:S456A	ENSP00000269202:S456A	S	+	1	0	MEP1B	28047307	0.204000	0.23447	0.996000	0.52242	0.981000	0.71138	0.075000	0.14686	-0.177000	0.10690	0.383000	0.25322	TCT	MEP1B	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_Pept_M12A_Meprin,pfscan_MATH		0.403	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MEP1B	HGNC	protein_coding	OTTHUMT00000447755.1	T	NM_005925		29793309	+1	no_errors	ENST00000269202	ensembl	human	known	70_37	missense	SNP	0.707	G
METTL20	254013	genome.wustl.edu	37	12	31815034	31815034	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:31815034T>C	ENST00000357721.3	+	2	362	c.147T>C	c.(145-147)gcT>gcC	p.A49A	METTL20_ENST00000538463.1_Silent_p.A49A|METTL20_ENST00000412352.2_Silent_p.A49A|METTL20_ENST00000395763.3_Silent_p.A49A|METTL20_ENST00000538391.1_Silent_p.A49A	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	49						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			lung(2)|stomach(1)	3						AGATAAAGGCTTTCCTGGAGG	0.542																																																	0													102.0	99.0	100.0					12																	31815034		2203	4300	6503	SO:0001819	synonymous_variant	254013			BC039535	CCDS8724.1	12p11.21	2011-03-03	2011-03-03	2011-03-03	ENSG00000139160	ENSG00000139160			28739	protein-coding gene	gene with protein product		615256	"""chromosome 12 open reading frame 72"""	C12orf72			Standard	NM_173802		Approved	DKFZp451L235, MGC50559	uc001rkm.3	Q8IXQ9		ENST00000357721.3:c.147T>C	12.37:g.31815034T>C			D3DUW3	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Nicotinamide_N-MeTfrase-like	p.A49	ENST00000357721.3	37	c.147	CCDS8724.1	12																																																																																			METTL20	-	NULL		0.542	METTL20-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	METTL20	HGNC	protein_coding	OTTHUMT00000402196.1	T	NM_173802		31815034	+1	no_errors	ENST00000357721	ensembl	human	known	70_37	silent	SNP	0.829	C
MFGE8	4240	genome.wustl.edu	37	15	89449895	89449895	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:89449895C>T	ENST00000566497.1	-	4	563	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	MFGE8_ENST00000268150.8_Missense_Mutation_p.E168K|MFGE8_ENST00000539437.1_Missense_Mutation_p.E160K|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000542878.1_Missense_Mutation_p.E124K|MFGE8_ENST00000268151.7_Missense_Mutation_p.E168K			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	168	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AAATCGAATTCGTGTCCATTA	0.512																																																	0													105.0	96.0	99.0					15																	89449895		2200	4299	6499	SO:0001583	missense	4240			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.502G>A	15.37:g.89449895C>T	ENSP00000456281:p.Glu168Lys		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E168K	ENST00000566497.1	37	c.502	CCDS10347.1	15	.	.	.	.	.	.	.	.	.	.	C	1.441	-0.567519	0.03910	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76	5.01	1.28	0.21552	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	1.105560	0.06567	N	0.747737	D	0.91774	0.7398	N	0.05306	-0.075	0.09310	N	1	B;B;B;B;B;B	0.24258	0.048;0.038;0.048;0.1;0.008;0.017	B;B;B;B;B;B	0.17433	0.018;0.008;0.018;0.017;0.004;0.01	D	0.86701	0.1929	10	0.08837	T	0.75	-7.9463	4.1718	0.10332	0.0:0.196:0.3519:0.4522	.	160;124;124;160;168;168	B3KTQ2;F5GZN3;B4E396;F5H7N9;Q08431-3;Q08431	.;.;.;.;.;MFGM_HUMAN	K	168;168;160;124	ENSP00000268150:E168K;ENSP00000268151:E168K;ENSP00000442386:E160K;ENSP00000444332:E124K	ENSP00000268150:E168K	E	-	1	0	MFGE8	87250899	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.380000	0.20602	0.109000	0.17891	-0.367000	0.07326	GAA	MFGE8	-	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		0.512	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	MFGE8	HGNC	protein_coding	OTTHUMT00000432804.1	C	NM_005928		89449895	-1	no_errors	ENST00000268150	ensembl	human	known	70_37	missense	SNP	0.000	T
MFSD11	79157	genome.wustl.edu	37	17	74735047	74735047	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:74735047A>G	ENST00000588460.1	+	2	2166	c.124A>G	c.(124-126)Aca>Gca	p.T42A	SRSF2_ENST00000508921.3_5'Flank|SRSF2_ENST00000359995.5_5'Flank|MFSD11_ENST00000593181.1_Missense_Mutation_p.T42A|MFSD11_ENST00000355954.3_Missense_Mutation_p.T42A|MIR636_ENST00000384825.1_RNA|SRSF2_ENST00000392485.2_5'Flank|MFSD11_ENST00000590514.1_Missense_Mutation_p.T42A|MFSD11_ENST00000336509.4_Missense_Mutation_p.T42A|MFSD11_ENST00000586622.1_Missense_Mutation_p.T42A	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	42						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CTTAAATAGGACAGATTTTCA	0.403																																																	0													124.0	111.0	115.0					17																	74735047		2203	4300	6503	SO:0001583	missense	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.124A>G	17.37:g.74735047A>G	ENSP00000464932:p.Thr42Ala		O43442|Q9NXI5	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T42A	ENST00000588460.1	37	c.124	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952531	0.73787	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	D;D	0.81996	-1.56;-1.56	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.82815	0.5119	L	0.43923	1.385	0.80722	D	1	P;P	0.48764	0.915;0.647	P;P	0.52031	0.596;0.688	T	0.79286	-0.1866	10	0.14656	T	0.56	-14.5481	15.6568	0.77144	1.0:0.0:0.0:0.0	.	42;42	O43934-2;O43934	.;MFS11_HUMAN	A	42	ENSP00000337240:T42A;ENSP00000348225:T42A	ENSP00000337240:T42A	T	+	1	0	MFSD11	72246642	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.331000	0.52075	2.092000	0.63282	0.459000	0.35465	ACA	MFSD11	-	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.403	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1	A	NM_024311		74735047	+1	no_errors	ENST00000336509	ensembl	human	known	70_37	missense	SNP	1.000	G
MGA	23269	genome.wustl.edu	37	15	42042106	42042106	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:42042106T>G	ENST00000570161.1	+	16	6301	c.6301T>G	c.(6301-6303)Tta>Gta	p.L2101V	MGA_ENST00000566586.1_Missense_Mutation_p.L1892V|MGA_ENST00000389936.4_Missense_Mutation_p.L2062V|MGA_ENST00000545763.1_Missense_Mutation_p.L1892V|MGA_ENST00000219905.7_Missense_Mutation_p.L2101V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGTCCAAAATTTAAGTAAAGT	0.383																																																	0													72.0	65.0	67.0					15																	42042106		1832	4083	5915	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6301T>G	15.37:g.42042106T>G	ENSP00000457035:p.Leu2101Val		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.L2101V	ENST00000570161.1	37	c.6301	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	T	0	-2.699956	0.00097	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84800	-1.9;-1.84;-1.89	4.23	-3.94	0.04130	.	3.039650	0.01631	N	0.023536	T	0.61862	0.2381	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.64715	-0.6342	10	0.02654	T	1	.	5.2499	0.15517	0.4479:0.0:0.2924:0.2597	.	717;1892;2101;2062	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	V	2101;2062;1892	ENSP00000219905:L2101V;ENSP00000374586:L2062V;ENSP00000442467:L1892V	ENSP00000219905:L2101V	L	+	1	2	MGA	39829398	0.000000	0.05858	0.003000	0.11579	0.668000	0.39293	-0.544000	0.06077	-0.597000	0.05813	-0.878000	0.02970	TTA	MGA	-	NULL		0.383	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	T	NM_001164273.1		42042106	+1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.000	G
MGA	23269	genome.wustl.edu	37	15	42058580	42058580	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:42058580G>T	ENST00000570161.1	+	23	8300	c.8300G>T	c.(8299-8301)aGa>aTa	p.R2767I	MGA_ENST00000566586.1_Missense_Mutation_p.R2558I|MGA_ENST00000389936.4_Missense_Mutation_p.R2728I|MGA_ENST00000545763.1_Missense_Mutation_p.R2558I|MGA_ENST00000219905.7_Missense_Mutation_p.R2767I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGAGGGGAGAGAGTGAAGTCA	0.368																																																	0													53.0	49.0	50.0					15																	42058580		1846	4080	5926	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8300G>T	15.37:g.42058580G>T	ENSP00000457035:p.Arg2767Ile		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.R2767I	ENST00000570161.1	37	c.8300	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	16.19	3.051919	0.55218	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86769	-2.14;-2.12;-2.17	5.37	4.43	0.53597	.	0.240284	0.29383	N	0.012318	D	0.84602	0.5508	N	0.19112	0.55	0.43994	D	0.996698	P;P	0.48589	0.912;0.857	P;P	0.52343	0.696;0.499	D	0.86509	0.1808	10	0.72032	D	0.01	.	13.3749	0.60732	0.0778:0.0:0.9222:0.0	.	2558;2767	F5H7K2;E7ENI0	.;.	I	2767;2728;2558	ENSP00000219905:R2767I;ENSP00000374586:R2728I;ENSP00000442467:R2558I	ENSP00000219905:R2767I	R	+	2	0	MGA	39845872	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	3.846000	0.55888	1.430000	0.47334	0.650000	0.86243	AGA	MGA	-	NULL		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1		42058580	+1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	1.000	T
MGAT5	4249	genome.wustl.edu	37	2	135160633	135160633	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:135160633G>T	ENST00000409645.1	+	12	1707	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	MGAT5_ENST00000281923.2_Missense_Mutation_p.K485N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	485					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CCAGCACAAAGAATATTCCCA	0.418																																																	0													98.0	97.0	97.0					2																	135160633		2203	4300	6503	SO:0001583	missense	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1455G>T	2.37:g.135160633G>T	ENSP00000386377:p.Lys485Asn		D3DP70	Missense_Mutation	SNP	NULL	p.K485N	ENST00000409645.1	37	c.1455	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841280	0.32513	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.69	3.86	0.44501	.	0.267685	0.41823	D	0.000811	T	0.29389	0.0732	L	0.29908	0.895	0.31590	N	0.65403	B	0.02656	0.0	B	0.01281	0.0	T	0.18023	-1.0350	9	0.22706	T	0.39	-21.2827	4.7921	0.13254	0.0788:0.188:0.5344:0.1988	.	485	Q09328	MGT5A_HUMAN	N	485	.	ENSP00000281923:K485N	K	+	3	2	MGAT5	134877103	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.690000	0.25451	1.407000	0.46875	0.650000	0.86243	AAG	MGAT5	-	NULL		0.418	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	HGNC	protein_coding	OTTHUMT00000254584.3	G	NM_002410		135160633	+1	no_errors	ENST00000281923	ensembl	human	known	70_37	missense	SNP	0.996	T
MICAL2	9645	genome.wustl.edu	37	11	12183914	12183914	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:12183914A>C	ENST00000256194.4	+	3	500	c.212A>C	c.(211-213)aAg>aCg	p.K71T	MICAL2_ENST00000527546.1_Missense_Mutation_p.K71T|MICAL2_ENST00000342902.5_Missense_Mutation_p.K71T|MICAL2_ENST00000537344.1_Missense_Mutation_p.K71T|MICAL2_ENST00000379612.3_Missense_Mutation_p.K71T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	71	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAATTGGATAAGCGTGGTTCC	0.512																																																	0													69.0	65.0	66.0					11																	12183914		2201	4294	6495	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.212A>C	11.37:g.12183914A>C	ENSP00000256194:p.Lys71Thr		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.K71T	ENST00000256194.4	37	c.212	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	A	27.3	4.822296	0.90873	.	.	ENSG00000133816	ENST00000537344;ENST00000532179;ENST00000526065;ENST00000256194;ENST00000532420;ENST00000527546;ENST00000342902;ENST00000524685;ENST00000525119;ENST00000533389;ENST00000379612	T;T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.55	5.55	0.83447	.	0.058391	0.64402	D	0.000003	T	0.63674	0.2531	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.995;0.998;0.999;1.0;0.998	D;D;D;D;D;D	0.81914	0.995;0.975;0.985;0.989;0.99;0.983	T	0.69030	-0.5253	10	0.72032	D	0.01	.	15.5202	0.75859	1.0:0.0:0.0:0.0	.	71;71;71;71;71;71	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851;B4DGZ0	.;.;.;.;MICA2_HUMAN;.	T	71	ENSP00000441689:K71T;ENSP00000434209:K71T;ENSP00000435270:K71T;ENSP00000256194:K71T;ENSP00000433818:K71T;ENSP00000433965:K71T;ENSP00000344894:K71T;ENSP00000437229:K71T;ENSP00000433509:K71T;ENSP00000433357:K71T;ENSP00000368932:K71T	ENSP00000256194:K71T	K	+	2	0	MICAL2	12140490	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.139000	0.94554	2.333000	0.79357	0.533000	0.62120	AAG	MICAL2	-	NULL		0.512	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	A	NM_014632		12183914	+1	no_errors	ENST00000256194	ensembl	human	known	70_37	missense	SNP	1.000	C
MICAL2	9645	genome.wustl.edu	37	11	12281400	12281400	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:12281400C>A	ENST00000256194.4	+	26	3578	c.3290C>A	c.(3289-3291)tCt>tAt	p.S1097Y	MICAL2_ENST00000527546.1_Missense_Mutation_p.S907Y|MICAL2_ENST00000342902.5_Missense_Mutation_p.S1076Y|MICAL2_ENST00000537344.1_Missense_Mutation_p.S907Y|MICAL2_ENST00000379612.3_Missense_Mutation_p.S871Y|RP11-265D17.2_ENST00000527288.1_RNA	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1097					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ACCGAAAGTTCTTGCGCAGTG	0.587																																																	0													48.0	49.0	49.0					11																	12281400		2201	4294	6495	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3290C>A	11.37:g.12281400C>A	ENSP00000256194:p.Ser1097Tyr		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.S1097Y	ENST00000256194.4	37	c.3290	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464811	0.43839	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.62105	0.05;0.06;0.05;0.07;0.13	5.37	4.45	0.53987	.	1.018760	0.07827	N	0.960726	T	0.65502	0.2697	N	0.19112	0.55	0.27614	N	0.948566	D;D;P;D;P;B	0.61080	0.989;0.986;0.875;0.984;0.94;0.01	P;P;B;P;P;B	0.59487	0.726;0.858;0.271;0.73;0.459;0.003	T	0.60073	-0.7334	10	0.72032	D	0.01	.	13.1459	0.59461	0.0:0.9223:0.0:0.0777	.	440;1076;907;850;871;1097	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	Y	907;440;1097;907;1076;871	ENSP00000441689:S907Y;ENSP00000256194:S1097Y;ENSP00000433965:S907Y;ENSP00000344894:S1076Y;ENSP00000368932:S871Y	ENSP00000256194:S1097Y	S	+	2	0	MICAL2	12237976	0.993000	0.37304	0.996000	0.52242	0.040000	0.13550	1.488000	0.35551	2.492000	0.84095	0.591000	0.81541	TCT	MICAL2	-	NULL		0.587	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	C	NM_014632		12281400	+1	no_errors	ENST00000256194	ensembl	human	known	70_37	missense	SNP	1.000	A
MIR124-3	406909	genome.wustl.edu	37	20	61809894	61809894	+	lincRNA	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:61809894T>C	ENST00000423020.1	-	0	188				MIR124-3_ENST00000384866.1_RNA																							TGATTTAATGTCTATACAATT	0.677																																																	0													24.0	28.0	27.0					20																	61809894		1567	3582	5149			406909																															20.37:g.61809894T>C				RNA	SNP	-	NULL	ENST00000423020.1	37	NULL		20																																																																																			MIR124-3	-	-		0.677	RP5-963E22.4-001	KNOWN	basic|exp_conf	lincRNA	MIR124-3	HGNC	lincRNA	OTTHUMT00000276288.1	T			61809894	+1	no_errors	ENST00000384866	ensembl	human	known	70_37	rna	SNP	1.000	C
MIR1302-3	100302128	genome.wustl.edu	37	2	114340638	114340638	+	RNA	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:114340638C>T	ENST00000408128.1	-	0	35					NR_031632.1				microRNA 1302-3																		cgaaattattcgttgtttatc	0.358																																																	0													69.0	72.0	71.0					2																	114340638		1568	3565	5133			100302128					2q13	2011-09-12		2008-12-18	ENSG00000221055	ENSG00000221055		"""ncRNAs / Micro RNAs"""	35295	non-coding RNA	RNA, micro				MIRN1302-3			Standard	NR_031632		Approved	hsa-mir-1302-3					2.37:g.114340638C>T				RNA	SNP	-	NULL	ENST00000408128.1	37	NULL		2																																																																																			MIR1302-3	-	-		0.358	MIR1302-3-201	KNOWN	basic	miRNA	MIR1302-3	HGNC	miRNA		C	NR_031632		114340638	-1	no_errors	ENST00000408128	ensembl	human	known	70_37	rna	SNP	0.000	T
MIR137HG	400765	genome.wustl.edu	37	1	98515117	98515117	+	IGR	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:98515117C>T								MIR137HG (3390 upstream) : RP5-1070A16.1 (161185 downstream)																							CCAGTGCCTTCGCGTGGTGGC	0.592																																																	0																																										SO:0001628	intergenic_variant	400765																															1.37:g.98515117C>T				RNA	SNP	-	NULL		37	NULL		1																																																																																			MIR137HG	-	-	0	0.592					MIR137HG	HGNC			C			98515117	-1	no_errors	ENST00000424528	ensembl	human	known	70_37	rna	SNP	1.000	T
ARHGEF9	23229	genome.wustl.edu	37	X	63005939	63005939	+	5'Flank	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:63005939G>A	ENST00000374878.1	-	0	0				MIR1468_ENST00000410600.1_RNA|ARHGEF9_ENST00000437457.2_5'Flank			O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9						apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|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)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GCACATCAGCGAAACAGGCAA	0.443																																																	0													252.0	205.0	219.0					X																	63005939		692	1591	2283	SO:0001631	upstream_gene_variant	100302115			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700		X.37:g.63005939G>A	Exception_encountered		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	RNA	SNP	-	NULL	ENST00000374878.1	37	NULL		X																																																																																			MIR1468	-	-		0.443	ARHGEF9-002	KNOWN	basic	protein_coding	MIR1468	HGNC	protein_coding	OTTHUMT00000056938.1	G			63005939	-1	no_errors	ENST00000410600	ensembl	human	known	70_37	rna	SNP	0.094	A
MIR412	574433	genome.wustl.edu	37	14	101531976	101531976	+	RNA	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:101531976C>T	ENST00000362142.2	+	0	91				MIR656_ENST00000385224.1_RNA|MIR541_ENST00000401360.1_RNA|MIR369_ENST00000362155.3_RNA|MIR409_ENST00000362237.1_RNA|MIR410_ENST00000362222.2_RNA	NR_030155.1				microRNA 412																		TTATTGACTTCGAATAATACA	0.527																																																	0													152.0	137.0	141.0					14																	101531976		1568	3582	5150			442914					14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101531976C>T				RNA	SNP	-	NULL	ENST00000362142.2	37	NULL		14																																																																																			MIR369	-	-		0.527	MIR412-201	KNOWN	basic	miRNA	MIR369	HGNC	miRNA		C	NR_030155		101531976	+1	no_errors	ENST00000362155	ensembl	human	known	70_37	rna	SNP	1.000	T
MIR4325	100422883	genome.wustl.edu	37	20	55896644	55896644	+	RNA	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:55896644C>T	ENST00000583049.1	-	0	3					NR_036219.1				microRNA 4325																		GCAACATCTTCCCCATCTCCT	0.507																																																	0																																												100422883					20	2011-09-12				ENSG00000266666		"""ncRNAs / Micro RNAs"""	38304	non-coding RNA	RNA, micro							Standard	NR_036219		Approved	hsa-mir-4325	uc021wfb.1				20.37:g.55896644C>T				RNA	SNP	-	NULL	ENST00000583049.1	37	NULL		20																																																																																			MIR4325	-	-		0.507	MIR4325-201	KNOWN	basic	miRNA	MIR4325	HGNC	miRNA		C	NR_036219		55896644	-1	no_errors	ENST00000583049	ensembl	human	known	70_37	rna	SNP	0.007	T
MIR381HG	378881	genome.wustl.edu	37	14	101513678	101513678	+	lincRNA	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:101513678C>T	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA|MIR544A_ENST00000384855.1_RNA|MIR655_ENST00000362159.2_RNA|MIR539_ENST00000365690.2_RNA|MIR381_ENST00000362150.1_RNA|MIR889_ENST00000401280.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		AGAAATTATCCTTGGTGTGTT	0.453																																																	0													183.0	151.0	160.0					14																	101513678		1568	3582	5150			664612			AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101513678C>T				RNA	SNP	-	NULL	ENST00000553692.1	37	NULL		14																																																																																			MIR539	-	-		0.453	MIR381HG-001	KNOWN	basic	lincRNA	MIR539	HGNC	lincRNA	OTTHUMT00000414538.1	C			101513678	+1	no_errors	ENST00000365690	ensembl	human	known	70_37	rna	SNP	1.000	T
MIR570	693155	genome.wustl.edu	37	3	195426281	195426281	+	RNA	SNP	T	T	G	rs573086689	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:195426281T>G	ENST00000384917.1	+	0	10					NR_030296.1				microRNA 570																		CCTAGATAAGTTAttaggtgg	0.478																																																	0													95.0	98.0	97.0					3																	195426281		1568	3582	5150			693155					3	2011-09-12		2008-12-18	ENSG00000207650	ENSG00000207650		"""ncRNAs / Micro RNAs"""	32826	non-coding RNA	RNA, micro		614538		MIRN570			Standard	NR_030296		Approved	hsa-mir-570	uc021xjf.1				3.37:g.195426281T>G				RNA	SNP	-	NULL	ENST00000384917.1	37	NULL		3																																																																																			MIR570	-	-		0.478	MIR570-201	KNOWN	basic	miRNA	MIR570	HGNC	miRNA		T	NR_030296		195426281	+1	no_errors	ENST00000384917	ensembl	human	known	70_37	rna	SNP	0.012	G
EDA	1896	genome.wustl.edu	37	X	69242715	69242715	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:69242715C>A	ENST00000374552.4	+	3	744				EDA_ENST00000374553.2_Intron|MIR676_ENST00000390702.2_RNA|EDA_ENST00000524573.1_Intron	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A						cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						ACGCATGACTCTTCAACCTCA	0.443																																																	0																																										SO:0001627	intron_variant	100500887			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.503-353C>A	X.37:g.69242715C>A			A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	RNA	SNP	-	NULL	ENST00000374552.4	37	NULL	CCDS14394.1	X																																																																																			MIR676	-	-		0.443	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MIR676	HGNC	protein_coding	OTTHUMT00000057048.2	C	NM_001399		69242715	+1	no_errors	ENST00000390702	ensembl	human	known	70_37	rna	SNP	0.966	A
MIR7-2	407044	genome.wustl.edu	37	15	89155061	89155061	+	RNA	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:89155061T>C	ENST00000384970.1	+	0	6					NR_029606.1|NR_039867.1				microRNA 7-2																		CTGGCCTGGATACAGAGTGGA	0.582																																																	0													25.0	26.0	26.0					15																	89155061		1565	3581	5146			407044					15q26.1	2011-09-12		2008-12-18	ENSG00000207703	ENSG00000207703		"""ncRNAs / Micro RNAs"""	31639	non-coding RNA	RNA, micro				MIRN7-2			Standard	NR_029606		Approved	hsa-mir-7-2	uc010upm.2				15.37:g.89155061T>C				RNA	SNP	-	NULL	ENST00000384970.1	37	NULL		15																																																																																			MIR7-2	-	-		0.582	MIR7-2-201	KNOWN	basic	miRNA	MIR7-2	HGNC	miRNA		T	NR_029606		89155061	+1	no_errors	ENST00000384970	ensembl	human	known	70_37	rna	SNP	0.000	C
MIR892A	100126342	genome.wustl.edu	37	X	145078734	145078734	+	RNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:145078734G>T	ENST00000401124.1	-	0	0				MIR888_ENST00000401186.1_RNA|MIR892B_ENST00000401279.1_RNA|MIR890_ENST00000401256.1_RNA	NR_030584.1				microRNA 892a																		GCTCTACCCAGAAAGGAGCCA	0.512																																																	0													37.0	31.0	33.0					X																	145078734		1566	3572	5138			100126307					Xq27.3	2011-09-12		2008-12-18	ENSG00000215943	ENSG00000215943		"""ncRNAs / Micro RNAs"""	33639	non-coding RNA	RNA, micro				MIRN892A			Standard	NR_030584		Approved	hsa-mir-892a	uc022cfq.1				X.37:g.145078734G>T				RNA	SNP	-	NULL	ENST00000401124.1	37	NULL		X																																																																																			MIR892B	-	-		0.512	MIR892A-201	KNOWN	basic	miRNA	MIR892B	HGNC	miRNA		G	NR_030584		145078734	-1	no_errors	ENST00000401279	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00461	645323	genome.wustl.edu	37	5	87962739	87962739	+	lincRNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:87962739A>C	ENST00000384838.1	-	0	18					NR_030741.1				long intergenic non-protein coding RNA 461																		TAGATAACCAAAGATAACAAC	0.478																																																	0													50.0	47.0	48.0					5																	87962739		1568	3582	5150			407047					5q14.3	2014-01-14			ENSG00000245526	ENSG00000245526		"""Long non-coding RNAs"""	42810	non-coding RNA	RNA, long non-coding							Standard	NR_015436		Approved	EyeLinc1, Visc-1a, Visc-1b	uc003kjg.3		OTTHUMG00000162632		5.37:g.87962739A>C				RNA	SNP	-	NULL	ENST00000384838.1	37	NULL		5																																																																																			MIR9-2	-	-		0.478	LINC00461-201	KNOWN	basic	miRNA	MIR9-2	HGNC	lincRNA		A			87962739	-1	no_errors	ENST00000384838	ensembl	human	known	70_37	rna	SNP	1.000	C
MIS18A	54069	genome.wustl.edu	37	21	33642063	33642063	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:33642063A>C	ENST00000290130.3	-	4	630	c.576T>G	c.(574-576)ctT>ctG	p.L192L	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	192					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CAAGATTAAAAAGCTCTTTAT	0.343																																																	0													62.0	62.0	62.0					21																	33642063		2203	4299	6502	SO:0001819	synonymous_variant	54069			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.576T>G	21.37:g.33642063A>C			B2R562|Q542Z0	Silent	SNP	NULL	p.L192	ENST00000290130.3	37	c.576	CCDS13611.1	21																																																																																			MIS18A	-	NULL		0.343	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18A	HGNC	protein_coding	OTTHUMT00000193090.1	A	NM_018944		33642063	-1	no_errors	ENST00000290130	ensembl	human	known	70_37	silent	SNP	1.000	C
MKI67	4288	genome.wustl.edu	37	10	129904435	129904435	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:129904435A>C	ENST00000368654.3	-	13	6044	c.5669T>G	c.(5668-5670)tTt>tGt	p.F1890C	MKI67_ENST00000368653.3_Missense_Mutation_p.F1530C	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1890	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAATGCTAAAAATTCTTCCTC	0.478																																																	0													285.0	282.0	283.0					10																	129904435		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5669T>G	10.37:g.129904435A>C	ENSP00000357643:p.Phe1890Cys		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.F1890C	ENST00000368654.3	37	c.5669	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174518	0.38413	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	2.96	-1.28	0.09318	.	2.606040	0.02070	U	0.051481	T	0.06645	0.0170	L	0.47716	1.5	0.09310	N	1	D;D;D	0.67145	0.996;0.994;0.996	P;P;P	0.60117	0.79;0.793;0.869	T	0.30208	-0.9986	10	0.41790	T	0.15	.	6.4492	0.21894	0.6348:0.0:0.3652:0.0	.	1889;1530;1890	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	C	1890;1530;1889	ENSP00000357643:F1890C;ENSP00000357642:F1530C	ENSP00000357642:F1530C	F	-	2	0	MKI67	129794425	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.083000	0.11286	-0.402000	0.07633	0.459000	0.35465	TTT	MKI67	-	pfam_K167R		0.478	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	A	NM_002417		129904435	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.000	C
MKI67	4288	genome.wustl.edu	37	10	129909845	129909845	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:129909845A>C	ENST00000368654.3	-	11	2636				MKI67_ENST00000368653.3_Intron|MKI67_ENST00000484853.1_5'UTR	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67						cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAGCAAAACAAACATTAACAC	0.328																																																	0																																										SO:0001627	intron_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2260+63T>G	10.37:g.129909845A>C			Q5VWH2	RNA	SNP	-	NULL	ENST00000368654.3	37	NULL	CCDS7659.1	10																																																																																			MKI67	-	-		0.328	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	A	NM_002417		129909845	-1	no_errors	ENST00000484853	ensembl	human	known	70_37	rna	SNP	0.000	C
CENPU	79682	genome.wustl.edu	37	4	185622015	185622015	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:185622015C>A	ENST00000281453.5	-	11	1015	c.945G>T	c.(943-945)aaG>aaT	p.K315N	MLF1IP_ENST00000541971.1_Missense_Mutation_p.K315N|MLF1IP_ENST00000506535.1_Intron	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCTGCCTTTTCTTTTCGATAT	0.373																																																	0													159.0	142.0	148.0					4																	185622015		2203	4300	6503	SO:0001583	missense	79682																														ENST00000281453.5:c.945G>T	4.37:g.185622015C>A	ENSP00000281453:p.Lys315Asn			Missense_Mutation	SNP	NULL	p.K315N	ENST00000281453.5	37	c.945	CCDS3838.1	4	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406921	0.62399	.	.	ENSG00000151725	ENST00000281453;ENST00000541971	T;T	0.35421	1.31;1.31	4.94	4.94	0.65067	.	0.186567	0.37715	N	0.001979	T	0.58524	0.2128	M	0.72894	2.215	0.51012	D	0.999909	D	0.69078	0.997	D	0.71184	0.972	T	0.62006	-0.6945	10	0.72032	D	0.01	-9.5424	15.1939	0.73071	0.0:1.0:0.0:0.0	.	315	Q71F23	CENPU_HUMAN	N	315	ENSP00000281453:K315N;ENSP00000445862:K315N	ENSP00000281453:K315N	K	-	3	2	MLF1IP	185859009	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	4.171000	0.58236	2.546000	0.85860	0.563000	0.77884	AAG	MLF1IP	-	NULL		0.373	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLF1IP	HGNC	protein_coding	OTTHUMT00000360841.2	C			185622015	-1	no_errors	ENST00000281453	ensembl	human	known	70_37	missense	SNP	1.000	A
MLH3	27030	genome.wustl.edu	37	14	75513429	75513429	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:75513429G>T	ENST00000556740.1	-	1	2965	c.2930C>A	c.(2929-2931)tCt>tAt	p.S977Y	MLH3_ENST00000238662.7_Missense_Mutation_p.S977Y|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.S977Y|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.S977Y			Q9UHC1	MLH3_HUMAN	mutL homolog 3	977					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGTAACTTTAGAATTATTATA	0.348								Mismatch excision repair (MMR)																																									0													91.0	103.0	99.0					14																	75513429		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2930C>A	14.37:g.75513429G>T	ENSP00000452316:p.Ser977Tyr		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.S977Y	ENST00000556740.1	37	c.2930	CCDS32123.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.281|2.281	-0.364605|-0.364605	0.05103|0.05103	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000553713|ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	.|D;D;D;D	.|0.84146	.|-1.69;-1.74;-1.81;-1.69	5.19|5.19	-1.26|-1.26	0.09376|0.09376	.|.	.|1.214450	.|0.05698	.|N	.|0.593481	D|D	0.85691|0.85691	0.5755|0.5755	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	.|D;B	.|0.53885	.|0.963;0.046	.|P;B	.|0.53809	.|0.735;0.049	T|T	0.72104|0.72104	-0.4391|-0.4391	5|10	.|0.72032	.|D	.|0.01	0.7676|0.7676	2.1335|2.1335	0.03755|0.03755	0.343:0.1158:0.4222:0.1189|0.343:0.1158:0.4222:0.1189	.|.	.|977;977	.|Q9UHC1-2;Q9UHC1	.|.;MLH3_HUMAN	I|Y	34|977	.|ENSP00000348020:S977Y;ENSP00000238662:S977Y;ENSP00000451540:S977Y;ENSP00000452316:S977Y	.|ENSP00000238662:S977Y	L|S	-|-	1|2	2|0	MLH3|MLH3	74583182|74583182	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.067000|0.067000	0.16453|0.16453	0.382000|0.382000	0.20635|0.20635	-0.321000|-0.321000	0.08627|0.08627	-0.127000|-0.127000	0.14921|0.14921	CTA|TCT	MLH3	-	NULL		0.348	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	G	NM_014381		75513429	-1	no_errors	ENST00000355774	ensembl	human	known	70_37	missense	SNP	0.000	T
MLH3	27030	genome.wustl.edu	37	14	75515647	75515647	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:75515647A>C	ENST00000556740.1	-	1	747	c.712T>G	c.(712-714)Tat>Gat	p.Y238D	MLH3_ENST00000238662.7_Missense_Mutation_p.Y238D|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.Y238D|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.Y238D			Q9UHC1	MLH3_HUMAN	mutL homolog 3	238					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GAGCTGATATAGCCACTAAGC	0.323								Mismatch excision repair (MMR)																																									0													32.0	34.0	33.0					14																	75515647		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.712T>G	14.37:g.75515647A>C	ENSP00000452316:p.Tyr238Asp		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.Y238D	ENST00000556740.1	37	c.712	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651476	0.47362	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.63	5.63	0.86233	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.208429	0.43579	D	0.000559	D	0.92280	0.7551	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.69824	0.925;0.966	D	0.93304	0.6679	10	0.87932	D	0	-7.8778	15.87	0.79108	1.0:0.0:0.0:0.0	.	238;238	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	D	238	ENSP00000348020:Y238D;ENSP00000238662:Y238D;ENSP00000451540:Y238D;ENSP00000452316:Y238D	ENSP00000238662:Y238D	Y	-	1	0	MLH3	74585400	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.746000	0.55127	2.145000	0.66743	0.533000	0.62120	TAT	MLH3	-	pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold		0.323	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	A	NM_014381		75515647	-1	no_errors	ENST00000355774	ensembl	human	known	70_37	missense	SNP	1.000	C
MLKL	197259	genome.wustl.edu	37	16	74729369	74729369	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:74729369A>G	ENST00000308807.7	-	2	750	c.287T>C	c.(286-288)aTa>aCa	p.I96T	MLKL_ENST00000306247.7_Missense_Mutation_p.I96T	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CTTGAAGAGTATTTTGTCCTG	0.483																																																	0													170.0	160.0	163.0					16																	74729369		2198	4300	6498	SO:0001583	missense	197259			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.287T>C	16.37:g.74729369A>G	ENSP00000308351:p.Ile96Thr			Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I96T	ENST00000308807.7	37	c.287	CCDS32487.1	16	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624040	0.28889	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	T;T	0.78481	-1.18;2.71	4.63	2.09	0.27110	.	0.451951	0.23400	N	0.048588	T	0.74068	0.3668	L	0.34521	1.04	0.09310	N	1	D;P	0.57899	0.981;0.828	P;B	0.56563	0.801;0.3	T	0.63037	-0.6726	10	0.49607	T	0.09	-8.1455	6.8007	0.23750	0.5699:0.0:0.0:0.4301	.	96;96	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	T	96	ENSP00000308351:I96T;ENSP00000303118:I96T	ENSP00000303118:I96T	I	-	2	0	MLKL	73286870	0.003000	0.15002	0.387000	0.26183	0.079000	0.17450	0.187000	0.16998	0.815000	0.34398	0.528000	0.53228	ATA	MLKL	-	NULL		0.483	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLKL	HGNC	protein_coding	OTTHUMT00000436403.3	A	NM_152649		74729369	-1	no_errors	ENST00000308807	ensembl	human	known	70_37	missense	SNP	0.101	G
KMT2D	8085	genome.wustl.edu	37	12	49447074	49447074	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:49447074A>C	ENST00000301067.7	-	7	869	c.870T>G	c.(868-870)gtT>gtG	p.V290V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	290	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACGTCTCACAAACCAACATCT	0.458																																																	0													194.0	188.0	190.0					12																	49447074		2037	4172	6209	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.870T>G	12.37:g.49447074A>C			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.V290	ENST00000301067.7	37	c.870	CCDS44873.1	12																																																																																			MLL2	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger		0.458	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	A			49447074	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	0.896	C
MLX	6945	genome.wustl.edu	37	17	40721303	40721303	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:40721303G>A	ENST00000246912.4	+	5	573	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	MLX_ENST00000435881.2_Missense_Mutation_p.A120T|MLX_ENST00000346833.4_Missense_Mutation_p.A90T	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	174	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GCTCAGCAAAGCCATCGTTCT	0.567																																					GBM(121;657 1601 4665 24731 34640)												0													89.0	86.0	87.0					17																	40721303		2203	4300	6503	SO:0001583	missense	6945			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.520G>A	17.37:g.40721303G>A	ENSP00000246912:p.Ala174Thr		A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.A174T	ENST00000246912.4	37	c.520	CCDS11430.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.818719	0.96982	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	D;D;D	0.98512	-4.97;-4.97;-4.97	5.95	5.95	0.96441	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	M	0.93550	3.43	0.80722	D	1	D;D;D	0.71674	0.996;0.966;0.998	D;D;D	0.72075	0.953;0.948;0.976	D	0.99038	1.0823	10	0.87932	D	0	-25.9098	20.3854	0.98941	0.0:0.0:1.0:0.0	.	90;174;120	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	T	90;174;120	ENSP00000320913:A90T;ENSP00000246912:A174T;ENSP00000416627:A120T	ENSP00000246912:A174T	A	+	1	0	MLX	37974829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.846000	0.99502	2.825000	0.97269	0.655000	0.94253	GCC	MLX	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.567	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLX	HGNC	protein_coding	OTTHUMT00000450415.1	G	NM_170607		40721303	+1	no_errors	ENST00000246912	ensembl	human	known	70_37	missense	SNP	1.000	A
MMAA	166785	genome.wustl.edu	37	4	146560411	146560411	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:146560411T>C	ENST00000281317.5	+	2	1330	c.120T>C	c.(118-120)tgT>tgC	p.C40C	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	40					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATCCCATGTGCTCAGCCGT	0.423																																																	0													144.0	140.0	141.0					4																	146560411		2203	4300	6503	SO:0001819	synonymous_variant	166785			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.120T>C	4.37:g.146560411T>C			B3KX40|Q495G7	Silent	SNP	pfam_ArgK,pfam_CobW/HypB/UreG_dom,tigrfam_ArgK	p.C40	ENST00000281317.5	37	c.120	CCDS3766.1	4																																																																																			MMAA	-	NULL		0.423	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMAA	HGNC	protein_coding	OTTHUMT00000364668.2	T			146560411	+1	no_errors	ENST00000281317	ensembl	human	known	70_37	silent	SNP	0.004	C
MMD2	221938	genome.wustl.edu	37	7	4959852	4959852	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:4959852G>A	ENST00000404774.3	-	3	434	c.240C>T	c.(238-240)ttC>ttT	p.F80F	MMD2_ENST00000406755.1_Silent_p.F80F|MMD2_ENST00000401401.3_Silent_p.F80F	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	80						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TGGACACCACGAAGAGGCCGC	0.642																																																	0													34.0	39.0	37.0					7																	4959852		2017	4157	6174	SO:0001819	synonymous_variant	221938			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.240C>T	7.37:g.4959852G>A			B5MBW4|Q6NVU5|Q6TCH0	Silent	SNP	pfam_HlyIII-related	p.F80	ENST00000404774.3	37	c.240	CCDS47529.1	7																																																																																			MMD2	-	pfam_HlyIII-related		0.642	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	HGNC	protein_coding	OTTHUMT00000324136.1	G	NM_198403		4959852	-1	no_errors	ENST00000404774	ensembl	human	known	70_37	silent	SNP	0.966	A
MME	4311	genome.wustl.edu	37	3	154866381	154866381	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:154866381A>C	ENST00000460393.1	+	16	1660	c.1540A>C	c.(1540-1542)Aat>Cat	p.N514H	MME_ENST00000462745.1_Missense_Mutation_p.N514H|MME_ENST00000492661.1_Missense_Mutation_p.N514H|MME_ENST00000493237.1_Missense_Mutation_p.N514H|MME_ENST00000360490.2_Missense_Mutation_p.N514H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	514					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CATAATTCAAAATTTGAAATT	0.318																																																	0													69.0	79.0	76.0					3																	154866381		2203	4300	6503	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1540A>C	3.37:g.154866381A>C	ENSP00000418525:p.Asn514His		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.N514H	ENST00000460393.1	37	c.1540	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120533	0.77323	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.93	5.93	0.95920	.	0.050188	0.85682	D	0.000000	D	0.91543	0.7329	M	0.84082	2.675	0.53005	D	0.999963	D	0.89917	1.0	D	0.75484	0.986	D	0.91994	0.5605	10	0.52906	T	0.07	-37.8144	16.3766	0.83401	1.0:0.0:0.0:0.0	.	514	P08473	NEP_HUMAN	H	514	ENSP00000420389:N514H;ENSP00000418525:N514H;ENSP00000419653:N514H;ENSP00000417079:N514H;ENSP00000353679:N514H	ENSP00000353679:N514H	N	+	1	0	MME	156349075	1.000000	0.71417	0.993000	0.49108	0.823000	0.46562	8.158000	0.89649	2.263000	0.75096	0.533000	0.62120	AAT	MME	-	NULL		0.318	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	A	NM_000902		154866381	+1	no_errors	ENST00000360490	ensembl	human	known	70_37	missense	SNP	1.000	C
MMP10	4319	genome.wustl.edu	37	11	102649479	102649479	+	Splice_Site	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:102649479T>C	ENST00000279441.4	-	4	534	c.498A>G	c.(496-498)gaA>gaG	p.E166E		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	166					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	AGTCTCCATGTTCTGATAGGG	0.388																																																	0													76.0	74.0	75.0					11																	102649479		2203	4299	6502	SO:0001630	splice_region_variant	4319			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.497-1A>G	11.37:g.102649479T>C			B2R9X9|Q53HH9	Silent	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.E166	ENST00000279441.4	37	c.498	CCDS8321.1	11																																																																																			MMP10	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin		0.388	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP10	HGNC	protein_coding	OTTHUMT00000398014.1	T		Silent	102649479	-1	no_errors	ENST00000279441	ensembl	human	known	70_37	silent	SNP	0.984	C
MMP16	4325	genome.wustl.edu	37	8	89180150	89180150	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:89180150G>A	ENST00000286614.6	-	4	738	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	153					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AAGGCACGGCGAATAGCTTTA	0.373																																																	0													114.0	103.0	107.0					8																	89180150		2203	4300	6503	SO:0001583	missense	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.457C>T	8.37:g.89180150G>A	ENSP00000286614:p.Arg153Cys		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.R153C	ENST00000286614.6	37	c.457	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751412	0.89753	.	.	ENSG00000156103	ENST00000286614	T	0.23950	1.88	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76849	-0.2807	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	153;153	P51512-2;P51512	.;MMP16_HUMAN	C	153	ENSP00000286614:R153C	ENSP00000286614:R153C	R	-	1	0	MMP16	89249266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.576000	0.60915	2.937000	0.99478	0.650000	0.86243	CGC	MMP16	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.373	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	G	NM_005941		89180150	-1	no_errors	ENST00000286614	ensembl	human	known	70_37	missense	SNP	1.000	A
MMP7	4316	genome.wustl.edu	37	11	102398628	102398628	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:102398628G>T	ENST00000260227.4	-	2	247	c.195C>A	c.(193-195)ttC>ttA	p.F65L		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	65					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	GTAGGCCAAAGAATTTTTGCA	0.383																																																	0													82.0	91.0	88.0					11																	102398628		2203	4299	6502	SO:0001583	missense	4316			Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.195C>A	11.37:g.102398628G>T	ENSP00000260227:p.Phe65Leu		Q9BTK9	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	p.F65L	ENST00000260227.4	37	c.195	CCDS8317.1	11	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607702	0.66558	.	.	ENSG00000137673	ENST00000260227	T	0.38887	1.11	5.39	4.48	0.54585	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.56097	D	0.000022	T	0.67316	0.2880	M	0.90650	3.135	0.36295	D	0.856677	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.87578	0.998;0.982;0.992	T	0.76688	-0.2867	10	0.66056	D	0.02	9.5336	8.9734	0.35921	0.2139:0.0:0.7861:0.0	.	65;65;65	B4DDW4;Q53GF1;P09237	.;.;MMP7_HUMAN	L	65	ENSP00000260227:F65L	ENSP00000260227:F65L	F	-	3	2	MMP7	101903838	1.000000	0.71417	0.997000	0.53966	0.773000	0.43773	1.067000	0.30616	1.283000	0.44513	0.563000	0.77884	TTC	MMP7	-	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like		0.383	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP7	HGNC	protein_coding	OTTHUMT00000109633.2	G			102398628	-1	no_errors	ENST00000260227	ensembl	human	known	70_37	missense	SNP	1.000	T
MNS1	55329	genome.wustl.edu	37	15	56748670	56748670	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:56748670T>G	ENST00000260453.3	-	3	439	c.275A>C	c.(274-276)aAa>aCa	p.K92T		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	92	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CATAGCCAGTTTTTCTTCTTG	0.343																																																	0													178.0	162.0	167.0					15																	56748670		2191	4292	6483	SO:0001583	missense	55329			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.275A>C	15.37:g.56748670T>G	ENSP00000260453:p.Lys92Thr		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	NULL	p.K92T	ENST00000260453.3	37	c.275	CCDS10158.1	15	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026785	0.54683	.	.	ENSG00000138587	ENST00000260453	T	0.15256	2.44	5.87	4.76	0.60689	.	0.082020	0.85682	D	0.000000	T	0.15565	0.0375	L	0.51422	1.61	0.30934	N	0.726627	P	0.38922	0.651	B	0.38428	0.273	T	0.10683	-1.0619	10	0.35671	T	0.21	-27.6244	7.1597	0.25657	0.0:0.1744:0.0:0.8256	.	92	Q8NEH6	MNS1_HUMAN	T	92	ENSP00000260453:K92T	ENSP00000260453:K92T	K	-	2	0	MNS1	54535962	1.000000	0.71417	0.908000	0.35775	0.767000	0.43475	1.850000	0.39328	1.168000	0.42723	0.533000	0.62120	AAA	MNS1	-	NULL		0.343	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNS1	HGNC	protein_coding	OTTHUMT00000255047.2	T	NM_018365		56748670	-1	no_errors	ENST00000260453	ensembl	human	known	70_37	missense	SNP	0.973	G
MOAP1	64112	genome.wustl.edu	37	14	93649544	93649544	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:93649544A>C	ENST00000556883.1	-	2	1528	c.1044T>G	c.(1042-1044)ggT>ggG	p.G348G	TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank|MOAP1_ENST00000298894.4_Silent_p.G348G|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	348					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)		AGGTGAAATTACCTTCCAATA	0.468																																																	0													97.0	88.0	91.0					14																	93649544		2203	4300	6503	SO:0001819	synonymous_variant	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.1044T>G	14.37:g.93649544A>C			B2RDF6|Q9H833|Q9HAS1	Silent	SNP	NULL	p.G348	ENST00000556883.1	37	c.1044	CCDS9908.1	14																																																																																			MOAP1	-	NULL		0.468	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MOAP1	HGNC	protein_coding	OTTHUMT00000412685.1	A			93649544	-1	no_errors	ENST00000298894	ensembl	human	known	70_37	silent	SNP	0.000	C
MON2	23041	genome.wustl.edu	37	12	62860941	62860941	+	5'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:62860941A>C	ENST00000393632.2	+	0	345				MON2_ENST00000552115.1_5'UTR|MON2_ENST00000552738.1_5'UTR|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000393629.2_5'UTR|MON2_ENST00000546600.1_5'UTR|MON2_ENST00000280379.6_5'UTR|MON2_ENST00000393630.3_5'UTR	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)						actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGACCGTGCCAGAGCTTGTTT	0.627																																																	0													43.0	47.0	46.0					12																	62860941		2203	4300	6503	SO:0001623	5_prime_UTR_variant	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.-47A>C	12.37:g.62860941A>C			A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	RNA	SNP	-	NULL	ENST00000393632.2	37	NULL	CCDS31849.1	12																																																																																			MON2	-	-		0.627	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	A	NM_015026		62860941	+1	no_errors	ENST00000549378	ensembl	human	known	70_37	rna	SNP	0.000	C
MORC2	22880	genome.wustl.edu	37	22	31354670	31354670	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:31354670C>T	ENST00000397641.3	-	2	487	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	MORC2_ENST00000215862.4_5'UTR			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	27						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AACAAGAATTCGTGAGTGGTT	0.333																																																	0																																										SO:0001583	missense	22880			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.79G>A	22.37:g.31354670C>T	ENSP00000380763:p.Glu27Lys		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW	p.E27K	ENST00000397641.3	37	c.79		22	.	.	.	.	.	.	.	.	.	.	C	32	5.154786	0.94686	.	.	ENSG00000133422	ENST00000397641	T	0.74315	-0.83	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	T	0.69691	0.3139	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63060	-0.6721	7	0.08599	T	0.76	.	16.7955	0.85601	0.0:1.0:0.0:0.0	.	.	.	.	K	27	ENSP00000380763:E27K	ENSP00000380763:E27K	E	-	1	0	MORC2	29684670	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.196000	0.72094	2.714000	0.92807	0.644000	0.83932	GAA	MORC2	-	superfamily_ATPase-like_ATP-bd		0.333	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	HGNC	protein_coding	OTTHUMT00000321710.2	C	NM_014941		31354670	-1	no_errors	ENST00000397641	ensembl	human	known	70_37	missense	SNP	1.000	T
MORC3	23515	genome.wustl.edu	37	21	37717218	37717218	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:37717218A>C	ENST00000400485.1	+	8	970	c.894A>C	c.(892-894)acA>acC	p.T298T	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	298					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AGTCTAAAACAGTGAGAATTA	0.308																																																	0													76.0	81.0	80.0					21																	37717218		1813	4078	5891	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.894A>C	21.37:g.37717218A>C			A8KA92|Q9UEZ2	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.T298	ENST00000400485.1	37	c.894	CCDS42924.1	21																																																																																			MORC3	-	NULL		0.308	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	A	NM_015358		37717218	+1	no_errors	ENST00000400485	ensembl	human	known	70_37	silent	SNP	0.156	C
MORC4	79710	genome.wustl.edu	37	X	106186381	106186381	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:106186381C>A	ENST00000355610.4	-	15	2014	c.1740G>T	c.(1738-1740)caG>caT	p.Q580H	MORC4_ENST00000255495.7_Missense_Mutation_p.Q580H|MORC4_ENST00000535534.1_Missense_Mutation_p.Q328H	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	580						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TCATCTCATTCTGGAGCCTTC	0.448													C|||	1	0.000264901	0.0	0.0	3775	,	,		15169	0.0		0.0	False		,,,				2504	0.001																0													117.0	118.0	117.0					X																	106186381		2203	4300	6503	SO:0001583	missense	79710			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1740G>T	X.37:g.106186381C>A	ENSP00000347821:p.Gln580His		A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW	p.Q580H	ENST00000355610.4	37	c.1740	CCDS14525.2	X	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483385	0.44147	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.34275	2.62;1.37;2.6	5.16	0.926	0.19430	.	0.328667	0.22328	N	0.061502	T	0.45175	0.1329	L	0.54323	1.7	0.26533	N	0.974221	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.75484	0.986;0.986;0.986	T	0.28396	-1.0045	10	0.54805	T	0.06	-0.2856	2.7242	0.05209	0.1759:0.3812:0.3382:0.1047	.	328;580;580	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	H	580;328;580	ENSP00000347821:Q580H;ENSP00000440359:Q328H;ENSP00000255495:Q580H	ENSP00000255495:Q580H	Q	-	3	2	MORC4	106073037	0.976000	0.34144	0.995000	0.50966	0.895000	0.52256	0.366000	0.20365	0.041000	0.15688	0.544000	0.68410	CAG	MORC4	-	NULL		0.448	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORC4	HGNC	protein_coding	OTTHUMT00000057816.3	C	NM_024657		106186381	-1	no_errors	ENST00000355610	ensembl	human	known	70_37	missense	SNP	0.978	A
MORC4	79710	genome.wustl.edu	37	X	106199763	106199763	+	Splice_Site	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:106199763C>A	ENST00000355610.4	-	13	1730	c.1456G>T	c.(1456-1458)Gaa>Taa	p.E486*	MORC4_ENST00000255495.7_Splice_Site_p.E486*|MORC4_ENST00000535534.1_Splice_Site_p.E234*	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	486						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						ACAGTTTGTTCTCTAGGAGAA	0.393																																																	0													163.0	131.0	142.0					X																	106199763		2203	4300	6503	SO:0001630	splice_region_variant	79710			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1455-1G>T	X.37:g.106199763C>A			A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Nonsense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW	p.E486*	ENST00000355610.4	37	c.1456	CCDS14525.2	X	.	.	.	.	.	.	.	.	.	.	C	43	10.196100	0.99357	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	.	.	.	5.2	5.2	0.72013	.	1.126860	0.06553	N	0.745435	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	0.8193	13.5397	0.61666	0.0:1.0:0.0:0.0	.	.	.	.	X	486;234;486	.	ENSP00000255495:E486X	E	-	1	0	MORC4	106086419	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	1.457000	0.35212	2.505000	0.84491	0.538000	0.68166	GAA	MORC4	-	NULL		0.393	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORC4	HGNC	protein_coding	OTTHUMT00000057816.3	C	NM_024657	Nonsense_Mutation	106199763	-1	no_errors	ENST00000355610	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MOV10	4343	genome.wustl.edu	37	1	113217660	113217660	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:113217660C>A	ENST00000413052.2	+	2	516	c.126C>A	c.(124-126)gaC>gaA	p.D42E	MOV10_ENST00000357443.2_Missense_Mutation_p.D42E|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000544796.1_Missense_Mutation_p.D42E|MOV10_ENST00000369645.1_Missense_Mutation_p.D42E|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	42					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ATAACCGCGACTTCAAGATCA	0.682																																																	0													33.0	41.0	38.0					1																	113217660		2203	4300	6503	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.126C>A	1.37:g.113217660C>A	ENSP00000399797:p.Asp42Glu		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.D42E	ENST00000413052.2	37	c.126	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	C	6.683	0.494557	0.12702	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000544796;ENST00000285733;ENST00000357443;ENST00000369648	D;D;D	0.90069	-2.61;-2.61;-2.61	4.39	1.32	0.21799	.	0.410473	0.28809	N	0.014066	T	0.49321	0.1550	N	0.14661	0.345	0.28950	N	0.890445	B;B	0.14012	0.001;0.009	B;B	0.06405	0.002;0.002	T	0.45920	-0.9228	10	0.02654	T	1	-8.3214	4.5129	0.11921	0.1442:0.4905:0.2812:0.0842	.	42;42	Q9H8T8;Q9HCE1	.;MOV10_HUMAN	E	42;42;42;42;42;15	ENSP00000399797:D42E;ENSP00000358659:D42E;ENSP00000350028:D42E	ENSP00000285733:D42E	D	+	3	2	MOV10	113019183	0.997000	0.39634	0.885000	0.34714	0.995000	0.86356	0.398000	0.20899	0.176000	0.19873	0.561000	0.74099	GAC	MOV10	-	NULL		0.682	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	C	NM_020963		113217660	+1	no_errors	ENST00000357443	ensembl	human	known	70_37	missense	SNP	0.989	A
MPHOSPH9	10198	genome.wustl.edu	37	12	123706423	123706423	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:123706423T>A	ENST00000606320.1	-	5	574	c.368A>T	c.(367-369)aAa>aTa	p.K123I	MPHOSPH9_ENST00000392425.3_5'UTR|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.K93I|MPHOSPH9_ENST00000302349.5_5'UTR|MPHOSPH9_ENST00000539639.1_5'UTR			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	123						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GACTAAATTTTTTATCTCCTC	0.294																																																	0																																										SO:0001583	missense	10198			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.368A>T	12.37:g.123706423T>A	ENSP00000475489:p.Lys123Ile		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	NULL	p.K95N	ENST00000606320.1	37	c.285		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.76|10.76	1.441870|1.441870	0.25900|0.25900	.|.	.|.	ENSG00000257076|ENSG00000257076	ENST00000540674|ENST00000538169	T|.	0.03496|.	3.91|.	5.94|5.94	2.06|2.06	0.26882|0.26882	.|.	.|.	.|.	.|.	.|.	T|T	0.64605|0.64605	0.2613|0.2613	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.65425|0.65425	-0.6171|-0.6171	6|5	0.72032|0.87932	D|D	0.01|0	.|.	9.3698|9.3698	0.38248|0.38248	0.0:0.3672:0.0:0.6328|0.0:0.3672:0.0:0.6328	.|.	.|.	.|.	.|.	I|N	123|95	ENSP00000444418:K123I|.	ENSP00000444418:K123I|ENSP00000438579:K95N	K|K	-|-	2|3	0|2	RP11-546D6.2|RP11-546D6.2	122272376|122272376	0.998000|0.998000	0.40836|0.40836	0.989000|0.989000	0.46669|0.46669	0.990000|0.990000	0.78478|0.78478	1.243000|1.243000	0.32767|0.32767	0.556000|0.556000	0.29098|0.29098	-0.379000|-0.379000	0.06801|0.06801	AAA|AAA	MPHOSPH9	-	NULL		0.294	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	T			123706423	-1	no_errors	ENST00000538169	ensembl	human	novel	70_37	missense	SNP	0.868	A
MPPED2	744	genome.wustl.edu	37	11	30516990	30516990	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:30516990A>G	ENST00000358117.5	-	3	511	c.389T>C	c.(388-390)cTt>cCt	p.L130P	MPPED2_ENST00000448418.2_Missense_Mutation_p.L130P	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	130					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTGTTTAACAAGGTCTGCCAT	0.383																																																	0													151.0	140.0	144.0					11																	30516990		2202	4299	6501	SO:0001583	missense	744			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.389T>C	11.37:g.30516990A>G	ENSP00000350833:p.Leu130Pro		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.L130P	ENST00000358117.5	37	c.389	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007898	0.75046	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	D;D	0.85702	-2.02;-2.02	5.61	5.61	0.85477	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.88908	0.6565	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.88034	0.2777	10	0.36615	T	0.2	-7.2782	15.7958	0.78409	1.0:0.0:0.0:0.0	.	130;130	Q15777;E9PB10	MPPD2_HUMAN;.	P	130	ENSP00000388258:L130P;ENSP00000350833:L130P	ENSP00000350833:L130P	L	-	2	0	MPPED2	30473566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.134000	0.65973	0.533000	0.62120	CTT	MPPED2	-	pfam_Metallo_PEstase_dom		0.383	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	A	NM_001584		30516990	-1	no_errors	ENST00000358117	ensembl	human	known	70_37	missense	SNP	1.000	G
MRPL22	29093	genome.wustl.edu	37	5	154330435	154330435	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:154330435A>C	ENST00000523037.1	+	3	173	c.132A>C	c.(130-132)aaA>aaC	p.K44N	MRPL22_ENST00000439747.3_Missense_Mutation_p.K70N|MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000522038.1_Missense_Mutation_p.K50N	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	44					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTCTCGAAAATGGGAGAAGA	0.403																																																	0													113.0	110.0	111.0					5																	154330435		2203	4300	6503	SO:0001583	missense	29093			AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"""Mitochondrial ribosomal proteins / large subunits"""	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.132A>C	5.37:g.154330435A>C	ENSP00000431040:p.Lys44Asn		A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Missense_Mutation	SNP	pfam_Ribosomal_L22,superfamily_Ribosomal_L22	p.K44N	ENST00000523037.1	37	c.132	CCDS4331.1	5	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199362	0.38806	.	.	ENSG00000082515	ENST00000523037;ENST00000439747;ENST00000522038	T;T;T	0.51817	0.7;0.69;0.74	4.9	0.747	0.18371	.	0.357320	0.35040	N	0.003490	T	0.35451	0.0932	L	0.44542	1.39	0.42761	D	0.993809	B	0.06786	0.001	B	0.10450	0.005	T	0.14587	-1.0467	10	0.49607	T	0.09	-10.3986	8.0687	0.30676	0.7096:0.0:0.2904:0.0	.	44	Q9NWU5	RM22_HUMAN	N	44;70;50	ENSP00000431040:K44N;ENSP00000411177:K70N;ENSP00000429039:K50N	ENSP00000411177:K70N	K	+	3	2	MRPL22	154310628	0.139000	0.22563	0.993000	0.49108	0.987000	0.75469	0.338000	0.19858	0.223000	0.20920	0.482000	0.46254	AAA	MRPL22	-	NULL		0.403	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MRPL22	HGNC	protein_coding	OTTHUMT00000252508.2	A			154330435	+1	no_errors	ENST00000523037	ensembl	human	known	70_37	missense	SNP	0.797	C
MRPS15	64960	genome.wustl.edu	37	1	36926863	36926863	+	Splice_Site	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:36926863A>C	ENST00000373116.5	-	4	462		c.e4+1		MRPS15_ENST00000488606.1_5'Flank	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15						translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGGCTGCTCACCTTGTTGGC	0.527																																																	0													74.0	74.0	74.0					1																	36926863		2203	4300	6503	SO:0001630	splice_region_variant	64960			AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.300+1T>G	1.37:g.36926863A>C			B2RD82|Q9H2K1	Splice_Site	SNP	-	e4+2	ENST00000373116.5	37	c.300+2	CCDS411.1	1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184673	0.78677	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5785	0.76414	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPS15	36699450	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.919000	0.87513	2.333000	0.79357	0.533000	0.62120	.	MRPS15	-	-		0.527	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS15	HGNC	protein_coding	OTTHUMT00000022052.2	A	NM_031280	Intron	36926863	-1	no_errors	ENST00000373116	ensembl	human	known	70_37	splice_site	SNP	1.000	C
MSH6	2956	genome.wustl.edu	37	2	48032840	48032840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:48032840G>T	ENST00000234420.5	+	7	3792	c.3640G>T	c.(3640-3642)Gaa>Taa	p.E1214*	MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1084*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E912*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1214					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTGTGGATGAATTAGGTAA	0.284			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											87.0	89.0	88.0					2																	48032840		2203	4299	6502	SO:0001587	stop_gained	2956	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3640G>T	2.37:g.48032840G>T	ENSP00000234420:p.Glu1214*		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.E1214*	ENST00000234420.5	37	c.3640	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	47	13.564740	0.99750	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	4.81	4.81	0.61882	.	0.096544	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.1336	18.0797	0.89439	0.0:0.0:1.0:0.0	.	.	.	.	X	1214;180;1084;912	.	ENSP00000234420:E1214X	E	+	1	0	MSH6	47886344	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.477000	0.97925	2.506000	0.84524	0.462000	0.41574	GAA	MSH6	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6		0.284	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	G	NM_000179		48032840	+1	no_errors	ENST00000234420	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MSL3P1	151507	genome.wustl.edu	37	2	234775110	234775110	+	RNA	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:234775110A>G	ENST00000438684.1	-	0	1004					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CAAACACAGGACTCCCTTCCT	0.507																																																	0													125.0	106.0	112.0					2																	234775110		692	1591	2283			151507			BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775110A>G				RNA	SNP	-	NULL	ENST00000438684.1	37	NULL		2																																																																																			MSL3P1	-	-		0.507	MSL3P1-002	KNOWN	basic	processed_transcript	MSL3P1	HGNC	pseudogene	OTTHUMT00000131002.2	A	NR_024322		234775110	-1	no_errors	ENST00000438684	ensembl	human	known	70_37	rna	SNP	0.041	G
MSLN	10232	genome.wustl.edu	37	16	815696	815696	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:815696C>T	ENST00000382862.3	+	10	896	c.801C>T	c.(799-801)atC>atT	p.I267I	MSLN_ENST00000563941.1_Silent_p.I267I|MSLN_ENST00000545450.2_Silent_p.I267I|MSLN_ENST00000566549.1_Silent_p.I267I	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	267	Required for megakaryocyte-potentiating factor activity.				cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CTCAGGGCATCGTGGCCGCGT	0.701																																																	0													22.0	26.0	25.0					16																	815696		2180	4282	6462	SO:0001819	synonymous_variant	10232			U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.801C>T	16.37:g.815696C>T			D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	pfam_Mesothelin	p.I267	ENST00000382862.3	37	c.801	CCDS32356.1	16																																																																																			MSLN	-	pfam_Mesothelin		0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MSLN	HGNC	protein_coding	OTTHUMT00000109253.2	C			815696	+1	no_errors	ENST00000382862	ensembl	human	known	70_37	silent	SNP	0.001	T
MSR1	4481	genome.wustl.edu	37	8	16007814	16007814	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:16007814G>A	ENST00000262101.5	-	7	1026	c.905C>T	c.(904-906)cCg>cTg	p.P302L	MSR1_ENST00000536385.1_Missense_Mutation_p.P76L|MSR1_ENST00000381998.4_Missense_Mutation_p.P302L|MSR1_ENST00000350896.3_Missense_Mutation_p.P302L|MSR1_ENST00000445506.2_Missense_Mutation_p.P320L|MSR1_ENST00000355282.2_Missense_Mutation_p.P302L			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	302	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTTAAGACCCGGAGGACCTAC	0.373																																																	0													39.0	39.0	39.0					8																	16007814		2203	4300	6503	SO:0001583	missense	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.905C>T	8.37:g.16007814G>A	ENSP00000262101:p.Pro302Leu		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.P302L	ENST00000262101.5	37	c.905	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462990	0.63513	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	D;D;D;D;D;D;T	0.96685	-4.09;-3.76;-3.76;-4.09;-4.09;-4.09;-0.56	4.38	3.47	0.39725	.	0.283474	0.25267	N	0.031914	D	0.97334	0.9128	M	0.77616	2.38	0.46564	D	0.999107	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.998	D;P;P;P;D	0.64776	0.929;0.889;0.905;0.759;0.918	D	0.96973	0.9710	10	0.62326	D	0.03	.	10.676	0.45787	0.0:0.1953:0.8047:0.0	.	76;320;302;302;302	F5GZJ2;B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;.;MSRE_HUMAN	L	302;302;320;302;92;302;76	ENSP00000262100:P302L;ENSP00000262101:P302L;ENSP00000405453:P320L;ENSP00000347430:P302L;ENSP00000430536:P92L;ENSP00000371428:P302L;ENSP00000444414:P76L	ENSP00000262101:P302L	P	-	2	0	MSR1	16052185	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.078000	0.30754	1.105000	0.41606	0.650000	0.86243	CCG	MSR1	-	pfam_Collagen		0.373	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2	G			16007814	-1	no_errors	ENST00000262101	ensembl	human	known	70_37	missense	SNP	1.000	A
MSR1	4481	genome.wustl.edu	37	8	16032763	16032763	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:16032763T>G	ENST00000262101.5	-	3	271	c.150A>C	c.(148-150)aaA>aaC	p.K50N	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.K50N|MSR1_ENST00000350896.3_Missense_Mutation_p.K50N|MSR1_ENST00000445506.2_Missense_Mutation_p.K68N|MSR1_ENST00000355282.2_Missense_Mutation_p.K50N			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	50					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCAGTGCAGCTTTGAAGGACT	0.413																																																	0													157.0	151.0	153.0					8																	16032763		2203	4300	6503	SO:0001583	missense	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.150A>C	8.37:g.16032763T>G	ENSP00000262101:p.Lys50Asn		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.K50N	ENST00000262101.5	37	c.150	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	T	17.83	3.486400	0.63962	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998;ENST00000518960	D;D;D;D;D;T	0.93659	-2.82;-2.49;-2.52;-2.82;-3.26;0.5	5.34	1.59	0.23543	Macrophage scavenger receptor (1);	0.097413	0.45126	D	0.000392	D	0.95130	0.8422	M	0.74881	2.28	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.997	D	0.88043	0.2782	10	0.87932	D	0	.	6.7414	0.23439	0.0:0.2771:0.0:0.7229	.	68;50;50;50	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	N	50;50;68;50;50;50	ENSP00000262100:K50N;ENSP00000262101:K50N;ENSP00000405453:K68N;ENSP00000347430:K50N;ENSP00000371428:K50N;ENSP00000427905:K50N	ENSP00000262101:K50N	K	-	3	2	MSR1	16077134	0.575000	0.26692	0.580000	0.28601	0.960000	0.62799	0.771000	0.26633	0.397000	0.25310	0.528000	0.53228	AAA	MSR1	-	prints_Macro_scav_rcpt		0.413	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2	T			16032763	-1	no_errors	ENST00000262101	ensembl	human	known	70_37	missense	SNP	0.148	G
STK26	51765	genome.wustl.edu	37	X	131202297	131202297	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:131202297T>G	ENST00000354719.6	+	5	601	c.385T>G	c.(385-387)Tta>Gta	p.L129V	MST4_ENST00000394335.2_Missense_Mutation_p.L52V|MST4_ENST00000496850.1_Missense_Mutation_p.L129V|MST4_ENST00000481105.1_Missense_Mutation_p.L151V|MST4_ENST00000394334.2_Missense_Mutation_p.L129V														p.L129V(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AAAGGAAATTTTAAAAGGTCT	0.358																																																	1	Substitution - Missense(1)	large_intestine(1)											71.0	71.0	71.0					X																	131202297		2203	4299	6502	SO:0001583	missense	51765																														ENST00000354719.6:c.385T>G	X.37:g.131202297T>G	ENSP00000346755:p.Leu129Val			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.L129V	ENST00000354719.6	37	c.385		X	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089931	0.55968	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.74	4.57	0.56435	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	0.51477	D	0.000095	T	0.40546	0.1121	L	0.35542	1.07	0.58432	D	0.999999	D;D;P;D;D	0.76494	0.999;0.993;0.951;0.991;0.998	D;D;P;D;D	0.70016	0.967;0.937;0.88;0.94;0.934	T	0.24728	-1.0152	10	0.87932	D	0	.	8.689	0.34256	0.0:0.2154:0.0:0.7846	.	151;129;129;52;129	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	V	129;151;129;52;129	ENSP00000377867:L129V;ENSP00000418753:L151V;ENSP00000346755:L129V;ENSP00000377868:L52V;ENSP00000419702:L129V	ENSP00000346755:L129V	L	+	1	2	AL109749.1	131029978	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.163000	0.31798	0.798000	0.33994	0.486000	0.48141	TTA	MST4	-	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		0.358	MST4-002	NOVEL	basic|exp_conf	protein_coding	MST4	Uniprot_genename	protein_coding	OTTHUMT00000058308.2	T			131202297	+1	no_errors	ENST00000394334	ensembl	human	known	70_37	missense	SNP	1.000	G
MT1H	4496	genome.wustl.edu	37	16	56704827	56704827	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:56704827C>A	ENST00000332374.4	+	3	183	c.112C>A	c.(112-114)Ccc>Acc	p.P38T	MT1G_ENST00000569500.1_5'Flank|MT1H_ENST00000569155.1_3'UTR|MT1G_ENST00000568675.1_5'Flank|MT1G_ENST00000444837.2_5'Flank|MT1G_ENST00000379811.3_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	38	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						CTCCTGTTGCCCCCTGGGCTG	0.612																																																	0													120.0	112.0	114.0					16																	56704827		2198	4300	6498	SO:0001583	missense	4496			BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"""Metallothioneins"""	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.112C>A	16.37:g.56704827C>A	ENSP00000330587:p.Pro38Thr		B2RUY6	Missense_Mutation	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.P38T	ENST00000332374.4	37	c.112	CCDS10767.1	16	.	.	.	.	.	.	.	.	.	.	C	3.588	-0.084141	0.07097	.	.	ENSG00000205358	ENST00000332374	T	0.26660	1.72	2.6	1.62	0.23740	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.083243	0.49305	U	0.000148	T	0.27169	0.0666	.	.	.	0.80722	D	1	B	0.24618	0.107	B	0.38296	0.27	T	0.09840	-1.0656	9	0.87932	D	0	-3.6794	6.9917	0.24759	0.0:0.8535:0.0:0.1465	.	38	P80294	MT1H_HUMAN	T	38	ENSP00000330587:P38T	ENSP00000330587:P38T	P	+	1	0	MT1H	55262328	1.000000	0.71417	0.788000	0.31933	0.012000	0.07955	3.587000	0.53957	0.194000	0.20326	-0.657000	0.03884	CCC	MT1H	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert		0.612	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1H	HGNC	protein_coding	OTTHUMT00000257063.1	C	NM_005951		56704827	+1	no_errors	ENST00000332374	ensembl	human	known	70_37	missense	SNP	0.967	A
MTERF1	7978	genome.wustl.edu	37	7	91504019	91504019	+	Missense_Mutation	SNP	C	C	A	rs150415937		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:91504019C>A	ENST00000351870.3	-	3	182	c.89G>T	c.(88-90)aGa>aTa	p.R30I	MTERF_ENST00000419292.1_Missense_Mutation_p.R10I|MTERF_ENST00000406735.2_Missense_Mutation_p.R10I|MTERF_ENST00000481516.1_5'Flank	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		30					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			AAAGTTATTTCTCATATGCCA	0.353																																																	0								C	ILE/ARG	0,4406		0,0,2203	52.0	51.0	51.0		89	3.9	1.0	7	dbSNP_134	51	1,8597	1.2+/-3.3	0,1,4298	no	missense	MTERF	NM_006980.3	97	0,1,6501	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	30/400	91504019	1,13003	2203	4299	6502	SO:0001583	missense	7978																														ENST00000351870.3:c.89G>T	7.37:g.91504019C>A	ENSP00000248643:p.Arg30Ile		A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.R30I	ENST00000351870.3	37	c.89	CCDS5621.1	7	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749717	0.69533	0.0	1.16E-4	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735;ENST00000456229;ENST00000442961;ENST00000425936	T;T;T	0.26810	1.71;1.93;1.71	3.88	3.88	0.44766	.	0.314687	0.27442	N	0.019344	T	0.34774	0.0909	L	0.34521	1.04	0.42961	D	0.994403	D	0.65815	0.995	D	0.75484	0.986	T	0.08889	-1.0700	10	0.87932	D	0	-15.5903	7.5752	0.27931	0.0:0.8878:0.0:0.1122	.	30	Q99551	MTERF_HUMAN	I	10;30;10;10;30;10	ENSP00000414116:R10I;ENSP00000248643:R30I;ENSP00000384986:R10I	ENSP00000248643:R30I	R	-	2	0	MTERF	91341955	0.489000	0.26004	0.997000	0.53966	0.883000	0.51084	0.783000	0.26802	2.468000	0.83385	0.591000	0.81541	AGA	MTERF	-	NULL		0.353	MTERF-003	KNOWN	basic|CCDS	protein_coding	MTERF	HGNC	protein_coding	OTTHUMT00000342896.1	C			91504019	-1	no_errors	ENST00000351870	ensembl	human	known	70_37	missense	SNP	0.996	A
MTF2	22823	genome.wustl.edu	37	1	93583965	93583965	+	Silent	SNP	A	A	G	rs200173529		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:93583965A>G	ENST00000370298.4	+	7	985	c.696A>G	c.(694-696)caA>caG	p.Q232Q	MTF2_ENST00000545708.1_Silent_p.Q130Q|MTF2_ENST00000540243.1_Silent_p.Q130Q|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000370303.4_Silent_p.Q232Q	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	232					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CTTGTGTGCAATGCCTTCAAA	0.353																																																	0								A	,,,	1,4405	2.1+/-5.4	0,1,2202	89.0	89.0	89.0		390,696,390,696	5.2	1.0	1		89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MTF2	NM_001164391.1,NM_001164392.1,NM_001164393.1,NM_007358.3	,,,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,,,	130/492,232/537,130/492,232/594	93583965	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22823			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.696A>G	1.37:g.93583965A>G			A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q232	ENST00000370298.4	37	c.696	CCDS742.1	1																																																																																			MTF2	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD		0.353	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF2	HGNC	protein_coding	OTTHUMT00000028075.3	A	NM_007358		93583965	+1	no_errors	ENST00000370298	ensembl	human	known	70_37	silent	SNP	1.000	G
MTIF2	4528	genome.wustl.edu	37	2	55479767	55479767	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:55479767C>A	ENST00000263629.4	-	8	1002	c.687G>T	c.(685-687)aaG>aaT	p.K229N	MTIF2_ENST00000446660.1_5'Flank|MTIF2_ENST00000403721.1_Missense_Mutation_p.K229N|MTIF2_ENST00000394600.3_Missense_Mutation_p.K229N	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	229	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GAAAAGTTATCTTTTCCCCAG	0.413																																																	0													70.0	66.0	67.0					2																	55479767		2203	4300	6503	SO:0001583	missense	4528			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.687G>T	2.37:g.55479767C>A	ENSP00000263629:p.Lys229Asn		D6W5D0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_TIF_IF2_dom3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Small_GTP-bd_dom	p.K229N	ENST00000263629.4	37	c.687	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839377	0.91117	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.71461	-0.57;-0.57;-0.57	6.07	4.3	0.51218	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.047462	0.85682	D	0.000000	T	0.78528	0.4297	L	0.41632	1.29	0.58432	D	0.999995	P	0.35192	0.489	P	0.59703	0.862	T	0.78117	-0.2329	10	0.56958	D	0.05	-11.3663	12.9785	0.58549	0.0:0.8697:0.0:0.1303	.	229	P46199	IF2M_HUMAN	N	229	ENSP00000384481:K229N;ENSP00000263629:K229N;ENSP00000378099:K229N	ENSP00000263629:K229N	K	-	3	2	MTIF2	55333271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.418000	0.44662	0.912000	0.36772	0.655000	0.94253	AAG	MTIF2	-	pfam_EF_GTP-bd_dom,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,tigrfam_Small_GTP-bd_dom		0.413	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	C	NM_002453		55479767	-1	no_errors	ENST00000263629	ensembl	human	known	70_37	missense	SNP	1.000	A
MTM1	4534	genome.wustl.edu	37	X	149767133	149767133	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:149767133T>G	ENST00000370396.2	+	4	268	c.214T>G	c.(214-216)Tta>Gta	p.L72V	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Intron|MTM1_ENST00000413012.2_Missense_Mutation_p.L72V|MTM1_ENST00000543350.1_Intron	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	72	GRAM.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTCTTTATTTAAGAAGTTT	0.308																																																	0													58.0	57.0	58.0					X																	149767133		2201	4293	6494	SO:0001583	missense	4534			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.214T>G	X.37:g.149767133T>G	ENSP00000359423:p.Leu72Val		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.L72V	ENST00000370396.2	37	c.214	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399215	0.42512	.	.	ENSG00000171100	ENST00000370396;ENST00000424519;ENST00000413012	D;D;D	0.87179	-2.22;-2.22;-2.22	5.62	5.62	0.85841	GRAM (2);	0.066495	0.64402	D	0.000010	D	0.84696	0.5529	L	0.57536	1.79	0.80722	D	1	B;B	0.28760	0.132;0.221	B;B	0.32762	0.1;0.152	D	0.83565	0.0109	10	0.87932	D	0	.	8.8793	0.35365	0.0:0.0881:0.0:0.9119	.	72;72	B7Z491;Q13496	.;MTM1_HUMAN	V	72	ENSP00000359423:L72V;ENSP00000400699:L72V;ENSP00000389157:L72V	ENSP00000359423:L72V	L	+	1	2	MTM1	149517791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.012000	0.49575	1.890000	0.54733	0.486000	0.48141	TTA	MTM1	-	pfam_GRAM,smart_GRAM		0.308	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	T	NM_000252		149767133	+1	no_errors	ENST00000370396	ensembl	human	known	70_37	missense	SNP	1.000	G
MTNR1A	4543	genome.wustl.edu	37	4	187455702	187455702	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:187455702A>G	ENST00000307161.5	-	2	395	c.194T>C	c.(193-195)tTt>tCt	p.F65S	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	65					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GCTCACCACAAAGATGTTTCC	0.458																																																	0													46.0	49.0	48.0					4																	187455702		2203	4300	6503	SO:0001583	missense	4543				CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.194T>C	4.37:g.187455702A>G	ENSP00000302811:p.Phe65Ser		A0AVC5|B0M0L2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C	p.F65S	ENST00000307161.5	37	c.194	CCDS3848.1	4	.	.	.	.	.	.	.	.	.	.	A	22.4	4.290469	0.80914	.	.	ENSG00000168412	ENST00000307161	T	0.79845	-1.31	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93956	0.8065	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96325	0.9239	10	0.87932	D	0	-15.6579	14.9906	0.71384	1.0:0.0:0.0:0.0	.	65	P48039	MTR1A_HUMAN	S	65	ENSP00000302811:F65S	ENSP00000302811:F65S	F	-	2	0	MTNR1A	187692696	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.157000	0.94714	1.939000	0.56221	0.533000	0.62120	TTT	MTNR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.458	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1A	HGNC	protein_coding	OTTHUMT00000360189.1	A			187455702	-1	no_errors	ENST00000307161	ensembl	human	known	70_37	missense	SNP	1.000	G
MTOR	2475	genome.wustl.edu	37	1	11184573	11184573	+	Missense_Mutation	SNP	G	G	T	rs587777894		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:11184573G>T	ENST00000361445.4	-	47	6720	c.6644C>A	c.(6643-6645)tCt>tAt	p.S2215Y	MTOR_ENST00000376838.1_Missense_Mutation_p.S420Y	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2215	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		S -> Y (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.S2215Y(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTTCCGAAGAGATGTTGGGTC	0.438																																																	4	Substitution - Missense(4)	large_intestine(2)|kidney(1)|endometrium(1)											101.0	98.0	99.0					1																	11184573		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6644C>A	1.37:g.11184573G>T	ENSP00000354558:p.Ser2215Tyr		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S2215Y	ENST00000361445.4	37	c.6644	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903707	0.92035	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.78364	-1.17;-1.17	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	M	0.86651	2.83	0.80722	D	1	D	0.58970	0.984	P	0.60541	0.876	D	0.90182	0.4243	10	0.87932	D	0	-14.2436	18.2956	0.90145	0.0:0.0:1.0:0.0	.	2215	P42345	MTOR_HUMAN	Y	2215;420	ENSP00000354558:S2215Y;ENSP00000366034:S420Y	ENSP00000354558:S2215Y	S	-	2	0	MTOR	11107160	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.362000	0.97126	2.761000	0.94854	0.650000	0.86243	TCT	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.438	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	G	NM_004958		11184573	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	T
MTPAP	55149	genome.wustl.edu	37	10	30654113	30654113	+	Silent	SNP	C	C	T	rs552517199	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:30654113C>T	ENST00000358107.4	-	1	149	c.150G>A	c.(148-150)tcG>tcA	p.S50S	AL161651.1_ENST00000408070.1_RNA|RN7SL241P_ENST00000482973.2_RNA|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTGGATGGATCGAAGCTCTAG	0.567													.|||	2	0.000399361	0.0015	0.0	5008	,	,		17170	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001819	synonymous_variant	55149			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000358107.4:c.150G>A	10.37:g.30654113C>T			D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	pfam_PAP_assoc	p.S50	ENST00000358107.4	37	c.150		10																																																																																			MTPAP	-	NULL		0.567	MTPAP-201	KNOWN	basic	protein_coding	MTPAP	HGNC	protein_coding		C	NM_018109		30654113	-1	no_errors	ENST00000358107	ensembl	human	known	70_37	silent	SNP	1.000	T
MTPAP	55149	genome.wustl.edu	37	10	30657359	30657359	+	5'UTR	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:30657359C>A	ENST00000488290.1	-	0	659				RN7SL241P_ENST00000482973.2_RNA			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase						cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						gcagcttctcctccagctcct	0.642																																																	0																																										SO:0001623	5_prime_UTR_variant	55149			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000488290.1:c.-3444G>T	10.37:g.30657359C>A			D3DRX0|Q659E3|Q6P7E5|Q9HA74	RNA	SNP	-	NULL	ENST00000488290.1	37	NULL		10																																																																																			MTPAP	-	-		0.642	MTPAP-002	KNOWN	basic	processed_transcript	MTPAP	HGNC	protein_coding	OTTHUMT00000047427.1	C	NM_018109		30657359	-1	no_errors	ENST00000471055	ensembl	human	known	70_37	rna	SNP	0.061	A
MTUS2	23281	genome.wustl.edu	37	13	30059412	30059412	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:30059412C>A	ENST00000380808.2	+	4	552				MTUS2-AS1_ENST00000323380.5_RNA|MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000431530.3_Intron|MTUS2_ENST00000542829.1_Intron	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2							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						GCTGGGAATTCTTATTGGCTG	0.408																																																	0																																										SO:0001627	intron_variant	100874107			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.337-2625C>A	13.37:g.30059412C>A			A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	RNA	SNP	-	NULL	ENST00000380808.2	37	NULL	CCDS41874.1	13																																																																																			MTUS2-AS1	-	-		0.408	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2-AS1	HGNC	protein_coding	OTTHUMT00000044335.2	C	XM_166270		30059412	-1	no_errors	ENST00000323380	ensembl	human	known	70_37	rna	SNP	0.002	A
MUC12	10071	genome.wustl.edu	37	7	100634053	100634053	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:100634053A>G	ENST00000379442.3	+	5	638	c.638A>G	c.(637-639)gAc>gGc	p.D213G	MUC12_ENST00000536621.1_Missense_Mutation_p.D70G			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	213	Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CACTTCCTTGACAGCTCCACA	0.512																																																	0													151.0	135.0	140.0					7																	100634053		692	1591	2283	SO:0001583	missense	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.638A>G	7.37:g.100634053A>G	ENSP00000368755:p.Asp213Gly		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.D213G	ENST00000379442.3	37	c.638		7	.	.	.	.	.	.	.	.	.	.	-	1.635	-0.517940	0.04171	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.14022	2.54;2.54	0.886	-0.837	0.10766	.	.	.	.	.	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.42327	-0.9458	7	0.22706	T	0.39	.	4.1139	0.10072	0.6941:0.0:0.0:0.3059	.	.	.	.	G	213;70	ENSP00000368755:D213G;ENSP00000441929:D70G	ENSP00000368755:D213G	D	+	2	0	MUC12	100420773	0.003000	0.15002	0.000000	0.03702	0.009000	0.06853	-0.049000	0.11924	-0.223000	0.09943	0.145000	0.16022	GAC	MUC12	-	NULL		0.512	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	A	XM_379904		100634053	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	missense	SNP	0.012	G
MUC12	10071	genome.wustl.edu	37	7	100648305	100648305	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:100648305G>T	ENST00000379442.3	+	5	14890	c.14890G>T	c.(14890-14892)Gaa>Taa	p.E4964*	MUC12_ENST00000536621.1_Nonsense_Mutation_p.E4821*			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4964	Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TTTTGCTCAAGAATTTACCAC	0.512																																																	0													274.0	237.0	249.0					7																	100648305		692	1591	2283	SO:0001587	stop_gained	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.14890G>T	7.37:g.100648305G>T	ENSP00000368755:p.Glu4964*		A6ND38|F5GWV9|Q9UKN0	Nonsense_Mutation	SNP	pfam_SEA	p.E4964*	ENST00000379442.3	37	c.14890		7	.	.	.	.	.	.	.	.	.	.	G	53	20.444637	0.99930	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	.	.	.	0.441	-0.859	0.10685	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	1.4208	0.02311	0.3225:0.0:0.3328:0.3446	.	.	.	.	X	4964;4821	.	ENSP00000368755:E4964X	E	+	1	0	MUC12	100435025	0.001000	0.12720	0.002000	0.10522	0.020000	0.10135	0.876000	0.28092	-0.367000	0.08052	0.134000	0.15878	GAA	MUC12	-	NULL		0.512	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	G	XM_379904		100648305	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	nonsense	SNP	0.005	T
MUC16	94025	genome.wustl.edu	37	19	9064235	9064235	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9064235T>A	ENST00000397910.4	-	3	23414	c.23211A>T	c.(23209-23211)gaA>gaT	p.E7737D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7739	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTCCAGGTTCTGTGCTTG	0.517																																																	0													199.0	183.0	189.0					19																	9064235		2025	4187	6212	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23211A>T	19.37:g.9064235T>A	ENSP00000381008:p.Glu7737Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E7737D	ENST00000397910.4	37	c.23211	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	5.735	0.320036	0.10845	.	.	ENSG00000181143	ENST00000397910	T	0.31510	1.49	2.33	-1.7	0.08159	.	.	.	.	.	T	0.16599	0.0399	L	0.27053	0.805	.	.	.	B	0.14438	0.01	B	0.17979	0.02	T	0.31420	-0.9944	8	0.87932	D	0	.	0.2922	0.00260	0.2236:0.1506:0.2283:0.3975	.	7737	B5ME49	.	D	7737	ENSP00000381008:E7737D	ENSP00000381008:E7737D	E	-	3	2	MUC16	8925235	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.843000	0.04350	-0.536000	0.06298	-1.273000	0.01405	GAA	MUC16	-	NULL		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	T	NM_024690		9064235	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9070320	9070320	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9070320G>T	ENST00000397910.4	-	3	17329	c.17126C>A	c.(17125-17127)gCc>gAc	p.A5709D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5711	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCATGCATGGCTTCTGTGTG	0.512																																																	0													169.0	163.0	165.0					19																	9070320		2099	4216	6315	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17126C>A	19.37:g.9070320G>T	ENSP00000381008:p.Ala5709Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.A5709D	ENST00000397910.4	37	c.17126	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.563	-0.844293	0.02671	.	.	ENSG00000181143	ENST00000397910	T	0.21361	2.01	1.54	-3.09	0.05331	.	.	.	.	.	T	0.10121	0.0248	N	0.19112	0.55	.	.	.	B	0.09022	0.002	B	0.04013	0.001	T	0.26985	-1.0087	8	0.87932	D	0	.	0.7916	0.01058	0.1509:0.1894:0.2779:0.3817	.	5709	B5ME49	.	D	5709	ENSP00000381008:A5709D	ENSP00000381008:A5709D	A	-	2	0	MUC16	8931320	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.540000	0.00937	-1.850000	0.01169	-2.151000	0.00333	GCC	MUC16	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9070320	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	T
MUC19	283463	genome.wustl.edu	37	12	40925803	40925803	+	3'UTR	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:40925803G>A	ENST00000474954.1	+	0	4073				MUC19_ENST00000454784.4_Intron			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						ATGATCTATTGCTCCATTTCC	0.438																																																	0																																										SO:0001624	3_prime_UTR_variant	283463			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000474954.1:c.*4070G>A	12.37:g.40925803G>A			Q8NA85	RNA	SNP	-	NULL	ENST00000474954.1	37	NULL		12																																																																																			MUC19	-	-		0.438	MUC19-006	KNOWN	basic	processed_transcript	MUC19	HGNC	protein_coding	OTTHUMT00000134360.1	G	XM_003403524		40925803	+1	no_errors	ENST00000474954	ensembl	human	known	70_37	rna	SNP	0.000	A
MUC4	4585	genome.wustl.edu	37	3	195515052	195515052	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:195515052G>C	ENST00000463781.3	-	2	3858	c.3399C>G	c.(3397-3399)caC>caG	p.H1133Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H1133Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	581					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H1133Q(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGAGGTGGCGTGACCTGTGG	0.567																																																	2	Substitution - Missense(2)	endometrium(2)											5.0	6.0	6.0					3																	195515052		542	1260	1802	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3399C>G	3.37:g.195515052G>C	ENSP00000417498:p.His1133Gln		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.H1133Q	ENST00000463781.3	37	c.3399	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	1.833	-0.469252	0.04445	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.26957	1.72;1.7	0.814	-1.63	0.08345	.	.	.	.	.	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	P	0.61658	0.892	T	0.18618	-1.0331	8	.	.	.	.	6.1974	0.20557	0.0:0.0:0.5044:0.4955	.	1133	E7ESK3	.	Q	1133	ENSP00000417498:H1133Q;ENSP00000420243:H1133Q	.	H	-	3	2	MUC4	196999447	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.117000	0.10708	-1.056000	0.03205	0.064000	0.15345	CAC	MUC4	-	NULL		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195515052	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.001	C
MUC4	4585	genome.wustl.edu	37	3	195517019	195517019	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:195517019C>A	ENST00000463781.3	-	2	1891	c.1432G>T	c.(1432-1434)Gaa>Taa	p.E478*	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.E478*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	483					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTAAATATTTCTTGAGACACA	0.478																																																	0													135.0	131.0	132.0					3																	195517019		1953	4149	6102	SO:0001587	stop_gained	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1432G>T	3.37:g.195517019C>A	ENSP00000417498:p.Glu478*		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.E478*	ENST00000463781.3	37	c.1432	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	19.38	3.816199	0.70912	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	2.24	-1.36	0.09085	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	3.1158	0.06373	0.0:0.3743:0.2654:0.3603	.	.	.	.	X	478;478;452	.	ENSP00000376209:E452X	E	-	1	0	MUC4	197001414	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.056000	0.03489	-0.345000	0.08325	-0.425000	0.05940	GAA	MUC4	-	NULL		0.478	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	C	NM_018406		195517019	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	nonsense	SNP	0.000	A
MUC5B	727897	genome.wustl.edu	37	11	1253309	1253309	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:1253309G>A	ENST00000529681.1	+	15	1820	c.1762G>A	c.(1762-1764)Gcc>Acc	p.A588T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A591T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	588	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCAGCCTTCGCCAACACCTG	0.657																																																	0													47.0	57.0	54.0					11																	1253309		2100	4201	6301	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1762G>A	11.37:g.1253309G>A	ENSP00000436812:p.Ala588Thr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A591T	ENST00000529681.1	37	c.1771	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143550	0.37825	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20598	2.06;2.25	3.77	1.72	0.24424	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.43411	0.1246	M	0.83692	2.655	0.30536	N	0.76692	D;D;D	0.89917	0.987;1.0;1.0	P;P;P	0.60117	0.492;0.869;0.869	T	0.50197	-0.8856	9	0.87932	D	0	.	11.4639	0.50227	0.0:0.0:0.67:0.33	.	588;1247;591	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	T	588;591;589;624	ENSP00000436812:A588T;ENSP00000415793:A591T	ENSP00000343037:A589T	A	+	1	0	MUC5B	1209885	0.998000	0.40836	0.997000	0.53966	0.801000	0.45260	4.499000	0.60380	0.051000	0.15978	0.462000	0.41574	GCC	MUC5B	-	NULL		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1253309	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	1.000	A
MUC5B	727897	genome.wustl.edu	37	11	1273616	1273616	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:1273616C>A	ENST00000529681.1	+	32	14965	c.14907C>A	c.(14905-14907)ttC>ttA	p.F4969L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.F4972L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4969					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCTGCCATTTCTACGCAGTGT	0.587																																																	0													82.0	99.0	94.0					11																	1273616		2091	4208	6299	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14907C>A	11.37:g.1273616C>A	ENSP00000436812:p.Phe4969Leu		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.F4972L	ENST00000529681.1	37	c.14916	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	3.910	-0.020317	0.07634	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20598	2.06;2.23	4.39	3.48	0.39840	.	.	.	.	.	T	0.27765	0.0683	L	0.58810	1.83	0.09310	N	1	P;P	0.51057	0.941;0.941	P;P	0.49332	0.607;0.607	T	0.11494	-1.0585	9	0.87932	D	0	.	6.8716	0.24123	0.0:0.7114:0.0:0.2886	.	5291;4972	A7Y9J9;E9PBJ0	.;.	L	4969;4972;4913;4668	ENSP00000436812:F4969L;ENSP00000415793:F4972L	ENSP00000343037:F4913L	F	+	3	2	MUC5B	1230192	0.924000	0.31332	0.367000	0.25926	0.010000	0.07245	0.586000	0.23894	1.167000	0.42706	0.561000	0.74099	TTC	MUC5B	-	NULL		0.587	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1273616	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.304	A
MUM1L1	139221	genome.wustl.edu	37	X	105449951	105449951	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:105449951G>A	ENST00000357175.2	+	4	1175	c.526G>A	c.(526-528)Gat>Aat	p.D176N	MUM1L1_ENST00000337685.2_Missense_Mutation_p.D176N|MUM1L1_ENST00000372552.1_Missense_Mutation_p.D176N	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	176						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CACAATGGTCGATACTATTCC	0.408																																																	0													59.0	49.0	52.0					X																	105449951		1895	4103	5998	SO:0001583	missense	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.526G>A	X.37:g.105449951G>A	ENSP00000349699:p.Asp176Asn		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.D176N	ENST00000357175.2	37	c.526	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	G	5.014	0.188355	0.09547	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.22743	1.94;1.94;1.94	4.21	-2.49	0.06403	.	1.619440	0.03586	N	0.231086	T	0.17195	0.0413	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.17832	T	0.49	-18.4785	4.7021	0.12832	0.4208:0.0:0.4299:0.1493	.	176	Q5H9M0	MUML1_HUMAN	N	176	ENSP00000349699:D176N;ENSP00000338641:D176N;ENSP00000361632:D176N	ENSP00000338641:D176N	D	+	1	0	MUM1L1	105336607	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.013000	0.13310	-0.515000	0.06479	-1.016000	0.02456	GAT	MUM1L1	-	NULL		0.408	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	G	NM_152423		105449951	+1	no_errors	ENST00000337685	ensembl	human	known	70_37	missense	SNP	0.000	A
MUM1L1	139221	genome.wustl.edu	37	X	105451316	105451316	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:105451316G>T	ENST00000357175.2	+	4	2540	c.1891G>T	c.(1891-1893)Gat>Tat	p.D631Y	MUM1L1_ENST00000337685.2_Missense_Mutation_p.D631Y|MUM1L1_ENST00000372552.1_Missense_Mutation_p.D631Y	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	631						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GATAAAAGATGATAAAATTAA	0.333																																																	0													20.0	18.0	19.0					X																	105451316		1799	4039	5838	SO:0001583	missense	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1891G>T	X.37:g.105451316G>T	ENSP00000349699:p.Asp631Tyr		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.D631Y	ENST00000357175.2	37	c.1891	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442252	0.25987	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.54279	0.58;0.58;0.58	4.89	4.89	0.63831	.	0.000000	0.53938	D	0.000044	T	0.70605	0.3243	M	0.73598	2.24	0.41378	D	0.98753	D	0.89917	1.0	D	0.91635	0.999	T	0.74592	-0.3614	10	0.87932	D	0	-26.4903	12.3722	0.55261	0.0:0.0:1.0:0.0	.	631	Q5H9M0	MUML1_HUMAN	Y	631	ENSP00000349699:D631Y;ENSP00000338641:D631Y;ENSP00000361632:D631Y	ENSP00000338641:D631Y	D	+	1	0	MUM1L1	105337972	1.000000	0.71417	0.985000	0.45067	0.095000	0.18619	4.823000	0.62694	2.412000	0.81896	0.600000	0.82982	GAT	MUM1L1	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.333	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	G	NM_152423		105451316	+1	no_errors	ENST00000337685	ensembl	human	known	70_37	missense	SNP	0.982	T
MVK	4598	genome.wustl.edu	37	12	110032988	110032988	+	Splice_Site	SNP	T	T	C	rs398122910		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:110032988T>C	ENST00000228510.3	+	10	1115		c.e10+2		MVK_ENST00000539575.1_Splice_Site|MVK_ENST00000541384.1_Splice_Site|MVK_ENST00000539696.1_Splice_Site|MVK_ENST00000392727.3_Splice_Site	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase						cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						TCAAGCCAGGTATCCCGGGGG	0.622																																																	0													36.0	40.0	39.0					12																	110032988		2203	4300	6503	SO:0001630	splice_region_variant	4598			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.1039+2T>C	12.37:g.110032988T>C				Splice_Site	SNP	-	e9+2	ENST00000228510.3	37	c.1039+2	CCDS9132.1	12	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034165	0.75617	.	.	ENSG00000110921	ENST00000539696;ENST00000228510;ENST00000392727;ENST00000539575;ENST00000541384;ENST00000540353	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1272	0.42656	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MVK	108517371	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	6.665000	0.74442	1.896000	0.54893	0.460000	0.39030	.	MVK	-	-		0.622	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVK	HGNC	protein_coding	OTTHUMT00000403143.1	T	NM_000431	Intron	110032988	+1	no_errors	ENST00000228510	ensembl	human	known	70_37	splice_site	SNP	1.000	C
MX2	4600	genome.wustl.edu	37	21	42774012	42774012	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:42774012G>A	ENST00000330714.3	+	11	1714	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	510					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGTACATCCAGCAGCTGGTGG	0.483																																																	0													101.0	96.0	98.0					21																	42774012		2203	4300	6503	SO:0001819	synonymous_variant	4600				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1530G>A	21.37:g.42774012G>A			B7Z5D3|D3DSI7	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.Q510	ENST00000330714.3	37	c.1530	CCDS13672.1	21																																																																																			MX2	-	pfam_Dynamin_central,superfamily_CH-domain		0.483	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX2	HGNC	protein_coding	OTTHUMT00000195147.1	G	NM_002463		42774012	+1	no_errors	ENST00000330714	ensembl	human	known	70_37	silent	SNP	0.000	A
MYCBP2	23077	genome.wustl.edu	37	13	77695487	77695487	+	Intron	SNP	G	G	T	rs374511779		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:77695487G>T	ENST00000544440.2	-	55	8044				MYCBP2_ENST00000407578.2_Intron|MYCBP2_ENST00000357337.6_Intron|MYCBP2_ENST00000360084.5_Intron|MYCBP2_ENST00000482517.1_Intron					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)		GTAAGTAAAAGACTTACTTTT	0.313																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	48.0	51.0	50.0			0.9	0.0	13		50	0,8598		0,0,4299	no	intron	MYCBP2	NM_015057.4		0,1,6501	TT,TG,GG		0.0,0.0227,0.0077			77695487	1,13003	2203	4299	6502	SO:0001627	intron_variant	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.8026+20C>A	13.37:g.77695487G>T				RNA	SNP	-	NULL	ENST00000544440.2	37	NULL		13																																																																																			MYCBP2	-	-		0.313	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	G	NM_015057		77695487	-1	no_errors	ENST00000466564	ensembl	human	known	70_37	rna	SNP	0.000	T
MYCBPAP	84073	genome.wustl.edu	37	17	48594666	48594666	+	Missense_Mutation	SNP	C	C	T	rs373757291		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:48594666C>T	ENST00000323776.5	+	3	508	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R79C	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ACACATTCCTCGCCTTACTGA	0.453																																																	0								C	CYS/ARG	0,4406		0,0,2203	109.0	108.0	108.0		346	4.5	0.6	17		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYCBPAP	NM_032133.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	116/985	48594666	1,13005	2203	4300	6503	SO:0001583	missense	84073			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.346C>T	17.37:g.48594666C>T	ENSP00000323184:p.Arg116Cys			Missense_Mutation	SNP	NULL	p.R116C	ENST00000323776.5	37	c.346	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437541	0.43224	0.0	1.16E-4	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T	0.26067	1.76;1.78	5.45	4.48	0.54585	.	0.417829	0.25514	N	0.030155	T	0.46619	0.1402	M	0.69823	2.125	0.39922	D	0.974161	D;D	0.89917	1.0;1.0	D;P	0.63597	0.916;0.897	T	0.52771	-0.8531	10	0.87932	D	0	-4.8644	12.2678	0.54689	0.0:0.92:0.0:0.08	.	79;116	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	C	116;116;79	ENSP00000323184:R116C;ENSP00000397209:R79C	ENSP00000323184:R116C	R	+	1	0	MYCBPAP	45949665	0.532000	0.26346	0.623000	0.29173	0.131000	0.20780	2.028000	0.41088	1.437000	0.47472	0.563000	0.77884	CGC	MYCBPAP	-	NULL		0.453	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	C	NM_032133		48594666	+1	no_errors	ENST00000323776	ensembl	human	known	70_37	missense	SNP	0.902	T
MYF6	4618	genome.wustl.edu	37	12	81101643	81101643	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:81101643C>T	ENST00000228641.3	+	1	367	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	49					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GGACCAAATGCCCCCGGAAGC	0.617																																																	0													60.0	65.0	63.0					12																	81101643		2203	4300	6503	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.145C>T	12.37:g.81101643C>T	ENSP00000228641:p.Pro49Ser		B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.P49S	ENST00000228641.3	37	c.145	CCDS9019.1	12	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718260	0.30503	.	.	ENSG00000111046	ENST00000228641	D	0.95980	-3.87	5.62	5.62	0.85841	Myogenic basic muscle-specific protein (2);	0.210300	0.49916	D	0.000127	D	0.93930	0.8057	L	0.43923	1.385	0.58432	D	0.999998	P	0.36683	0.565	B	0.43413	0.419	D	0.92003	0.5612	10	0.21540	T	0.41	.	15.9554	0.79884	0.0:0.8652:0.1348:0.0	.	49	P23409	MYF6_HUMAN	S	49	ENSP00000228641:P49S	ENSP00000228641:P49S	P	+	1	0	MYF6	79625774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.601000	0.61090	2.662000	0.90505	0.655000	0.94253	CCC	MYF6	-	pfam_Basic,smart_Basic		0.617	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1	C	NM_002469		81101643	+1	no_errors	ENST00000228641	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH13	8735	genome.wustl.edu	37	17	10210289	10210289	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:10210289G>A	ENST00000418404.3	-	35	5425	c.5262C>T	c.(5260-5262)aaC>aaT	p.N1754N	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.N1754N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1754					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCCTCTGCGTTCCTGGACT	0.517																																																	0													110.0	112.0	111.0					17																	10210289		2200	4300	6500	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5262C>T	17.37:g.10210289G>A			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N1754	ENST00000418404.3	37	c.5262	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_tail		0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10210289	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	silent	SNP	1.000	A
MYH15	22989	genome.wustl.edu	37	3	108172877	108172877	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:108172877T>G	ENST00000273353.3	-	22	2491	c.2435A>C	c.(2434-2436)aAa>aCa	p.K812T	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	812	IQ.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCTGGAATTTGATTCGCAT	0.463																																																	0													101.0	94.0	96.0					3																	108172877		1926	4141	6067	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2435A>C	3.37:g.108172877T>G	ENSP00000273353:p.Lys812Thr			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.K812T	ENST00000273353.3	37	c.2435	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	T	15.02	2.709393	0.48517	.	.	ENSG00000144821	ENST00000273353	T	0.72167	-0.63	5.51	3.02	0.34903	.	.	.	.	.	T	0.54431	0.1858	N	0.16656	0.425	0.27110	N	0.962398	B	0.19706	0.038	B	0.15484	0.013	T	0.47275	-0.9130	9	0.51188	T	0.08	.	11.0321	0.47779	0.2371:0.0:0.0:0.7629	.	812	Q9Y2K3	MYH15_HUMAN	T	812	ENSP00000273353:K812T	ENSP00000273353:K812T	K	-	2	0	MYH15	109655567	1.000000	0.71417	0.272000	0.24630	0.938000	0.57974	2.914000	0.48797	0.407000	0.25591	0.533000	0.62120	AAA	MYH15	-	NULL		0.463	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	T	XM_036988		108172877	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	0.998	G
MYH15	22989	genome.wustl.edu	37	3	108205277	108205277	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:108205277G>A	ENST00000273353.3	-	11	1084	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	343	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TACTTCTGTGGCCAGCAATTC	0.448																																																	0													87.0	84.0	85.0					3																	108205277		1894	4134	6028	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1028C>T	3.37:g.108205277G>A	ENSP00000273353:p.Ala343Val			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.A343V	ENST00000273353.3	37	c.1028	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209960	0.58343	.	.	ENSG00000144821	ENST00000273353	D	0.87650	-2.28	5.66	4.8	0.61643	Myosin head, motor domain (2);	.	.	.	.	D	0.87277	0.6137	M	0.76002	2.32	0.45515	D	0.998471	B	0.20887	0.049	B	0.25506	0.061	D	0.84847	0.0811	9	0.52906	T	0.07	.	14.6433	0.68742	0.0699:0.0:0.9301:0.0	.	343	Q9Y2K3	MYH15_HUMAN	V	343	ENSP00000273353:A343V	ENSP00000273353:A343V	A	-	2	0	MYH15	109687967	0.998000	0.40836	0.374000	0.26016	0.711000	0.40976	2.909000	0.48758	1.407000	0.46875	0.467000	0.42956	GCC	MYH15	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.448	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	G	XM_036988		108205277	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	A
MYH4	4622	genome.wustl.edu	37	17	10356223	10356223	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:10356223C>A	ENST00000255381.2	-	25	3248	c.3138G>T	c.(3136-3138)aaG>aaT	p.K1046N	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1046					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCAAAGTTTCTTTTCTTGTT	0.378																																																	0													189.0	186.0	187.0					17																	10356223		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3138G>T	17.37:g.10356223C>A	ENSP00000255381:p.Lys1046Asn			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1046N	ENST00000255381.2	37	c.3138	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027850	0.75390	.	.	ENSG00000141048	ENST00000255381	D	0.93366	-3.21	5.42	5.42	0.78866	.	0.000000	0.39146	U	0.001450	D	0.96993	0.9018	M	0.94142	3.5	0.58432	D	0.999999	P	0.49783	0.928	P	0.53689	0.732	D	0.97896	1.0300	10	0.87932	D	0	.	18.1491	0.89668	0.0:1.0:0.0:0.0	.	1046	Q9Y623	MYH4_HUMAN	N	1046	ENSP00000255381:K1046N	ENSP00000255381:K1046N	K	-	3	2	MYH4	10296948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.538000	0.67193	2.699000	0.92147	0.563000	0.77884	AAG	MYH4	-	NULL		0.378	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	C	NM_017533		10356223	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	missense	SNP	1.000	A
MYH3	4621	genome.wustl.edu	37	17	10537357	10537357	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:10537357T>G	ENST00000583535.1	-	32	4586	c.4499A>C	c.(4498-4500)aAa>aCa	p.K1500T	MYH3_ENST00000226209.7_Missense_Mutation_p.K1500T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1500					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATTTTCCCGTTTCACAGTTTC	0.493																																																	0													181.0	155.0	164.0					17																	10537357		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4499A>C	17.37:g.10537357T>G	ENSP00000464317:p.Lys1500Thr		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1500T	ENST00000583535.1	37	c.4499	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698985	0.88830	.	.	ENSG00000109063	ENST00000226209	T	0.78364	-1.17	5.31	5.31	0.75309	Myosin tail (1);	.	.	.	.	D	0.90202	0.6937	M	0.92555	3.32	0.46874	D	0.999237	D	0.59767	0.986	D	0.67548	0.952	D	0.92639	0.6123	9	0.87932	D	0	.	15.5461	0.76101	0.0:0.0:0.0:1.0	.	1500	P11055	MYH3_HUMAN	T	1500	ENSP00000226209:K1500T	ENSP00000226209:K1500T	K	-	2	0	MYH3	10478082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.168000	0.64978	2.120000	0.65058	0.533000	0.62120	AAA	MYH3	-	pfam_Myosin_tail		0.493	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	T	NM_002470		10537357	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH6	4624	genome.wustl.edu	37	14	23862233	23862233	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:23862233G>A	ENST00000356287.3	-	23	3168	c.3139C>T	c.(3139-3141)Cgc>Tgc	p.R1047C	MYH6_ENST00000405093.3_Missense_Mutation_p.R1047C			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1047					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGGTCCATGCGCACCTTCTTC	0.498																																																	0													106.0	93.0	97.0					14																	23862233		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3139C>T	14.37:g.23862233G>A	ENSP00000348634:p.Arg1047Cys		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1047C	ENST00000356287.3	37	c.3139	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	g	21.4	4.146236	0.77888	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.95885	-3.84;-3.84	4.82	4.82	0.62117	.	.	.	.	.	D	0.98544	0.9514	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99126	1.0851	9	0.87932	D	0	.	13.2859	0.60243	0.0:0.0:0.8416:0.1584	.	1047	P13533	MYH6_HUMAN	C	1047	ENSP00000386041:R1047C;ENSP00000348634:R1047C	ENSP00000348634:R1047C	R	-	1	0	MYH6	22932073	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	2.272000	0.43373	2.391000	0.81399	0.557000	0.71058	CGC	MYH6	-	NULL		0.498	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	G			23862233	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	missense	SNP	1.000	A
MYH8	4626	genome.wustl.edu	37	17	10317799	10317799	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:10317799G>T	ENST00000403437.2	-	10	902	c.808C>A	c.(808-810)Ctt>Att	p.L270I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	270	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTTCTAAAAGATCTGGAGAG	0.353									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													30.0	29.0	29.0					17																	10317799		2194	4289	6483	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.808C>A	17.37:g.10317799G>T	ENSP00000384330:p.Leu270Ile		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L270I	ENST00000403437.2	37	c.808	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193736	0.78902	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.77620	-1.11	4.83	4.83	0.62350	Myosin head, motor domain (2);	0.000000	0.36200	U	0.002721	D	0.93736	0.7998	H	0.99600	4.65	0.80722	D	1	D	0.71674	0.998	D	0.97110	1.0	D	0.96611	0.9452	10	0.87932	D	0	.	18.1044	0.89516	0.0:0.0:1.0:0.0	.	270	P13535	MYH8_HUMAN	I	270	ENSP00000384330:L270I	ENSP00000252173:L270I	L	-	1	0	MYH8	10258524	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	6.392000	0.73213	2.517000	0.84864	0.655000	0.94253	CTT	MYH8	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.353	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10317799	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	missense	SNP	1.000	T
MYL1	4632	genome.wustl.edu	37	2	211167231	211167231	+	Missense_Mutation	SNP	G	G	T	rs201406310		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:211167231G>T	ENST00000352451.3	-	2	288	c.141C>A	c.(139-141)ttC>ttA	p.F47L	MYL1_ENST00000341685.4_Intron|MYL1_ENST00000496436.1_Intron	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	47					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTTCCTTAGAGAACTCGATCT	0.368																																																	0													104.0	99.0	100.0					2																	211167231		2203	4300	6503	SO:0001583	missense	4632				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.141C>A	2.37:g.211167231G>T	ENSP00000307280:p.Phe47Leu		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.F47L	ENST00000352451.3	37	c.141	CCDS2390.1	2	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666936	0.47677	.	.	ENSG00000168530	ENST00000352451	T	0.75050	-0.9	5.7	4.64	0.57946	.	0.237336	0.51477	D	0.000097	T	0.74084	0.3670	M	0.84082	2.675	0.45378	D	0.998362	B	0.22851	0.076	B	0.23852	0.049	T	0.69676	-0.5081	10	0.25106	T	0.35	.	12.0084	0.53272	0.1479:0.0:0.8521:0.0	.	47	P05976	MYL1_HUMAN	L	47	ENSP00000307280:F47L	ENSP00000307280:F47L	F	-	3	2	MYL1	210875476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.683000	0.61679	2.678000	0.91216	0.650000	0.86243	TTC	MYL1	-	NULL		0.368	MYL1-001	KNOWN	basic|CCDS	protein_coding	MYL1	HGNC	protein_coding	OTTHUMT00000256566.2	G	NM_079420		211167231	-1	no_errors	ENST00000352451	ensembl	human	known	70_37	missense	SNP	1.000	T
MYLK3	91807	genome.wustl.edu	37	16	46766398	46766398	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:46766398T>G	ENST00000394809.4	-	4	1299	c.1184A>C	c.(1183-1185)gAa>gCa	p.E395A	MYLK3_ENST00000536476.1_Missense_Mutation_p.E54A	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	395					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTGGCTCCTTCAGGGGTCTG	0.697																																																	0													30.0	34.0	33.0					16																	46766398		2203	4300	6503	SO:0001583	missense	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1184A>C	16.37:g.46766398T>G	ENSP00000378288:p.Glu395Ala		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	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.E395A	ENST00000394809.4	37	c.1184	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	T	11.65	1.701260	0.30142	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.67698	-0.28;-0.28	4.86	-1.49	0.08718	.	1.650860	0.03945	N	0.287599	T	0.45478	0.1344	N	0.14661	0.345	0.09310	N	1	B;B	0.29716	0.081;0.255	B;B	0.22152	0.01;0.038	T	0.20672	-1.0268	10	0.15499	T	0.54	.	9.137	0.36879	0.0:0.5466:0.0:0.4534	.	395;395	B5BUL9;Q32MK0	.;MYLK3_HUMAN	A	395;54	ENSP00000378288:E395A;ENSP00000439297:E54A	ENSP00000378288:E395A	E	-	2	0	MYLK3	45323899	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.028000	0.12350	-0.331000	0.08501	0.533000	0.62120	GAA	MYLK3	-	NULL		0.697	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	T	NM_182493		46766398	-1	no_errors	ENST00000394809	ensembl	human	known	70_37	missense	SNP	0.000	G
RECQL5	9400	genome.wustl.edu	37	17	73620961	73620961	+	IGR	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:73620961G>A	ENST00000317905.5	-	0	3704				RECQL5_ENST00000443199.2_5'Flank|MYO15B_ENST00000578382.2_3'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						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)			ACTGCACTTCGATAACTCCAC	0.657								Other identified genes with known or suspected DNA repair function																																									0																																										SO:0001628	intergenic_variant	80022			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			17.37:g.73620961G>A			Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom	p.D276N	ENST00000317905.5	37	c.826	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188203	0.38609	.	.	ENSG00000188126	ENST00000293201	T	0.78246	-1.16	4.76	2.75	0.32379	.	.	.	.	.	T	0.67524	0.2902	.	.	.	0.09310	N	1	P;P	0.43662	0.814;0.716	B;B	0.37304	0.246;0.06	T	0.58493	-0.7627	8	0.72032	D	0.01	-11.7918	8.2839	0.31917	0.0807:0.299:0.6203:0.0	.	276;250	Q9H614;Q8TCJ6	.;.	N	276	ENSP00000293201:D276N	ENSP00000293201:D276N	D	+	1	0	MYO15B	71132556	0.914000	0.31030	0.034000	0.17996	0.166000	0.22503	2.702000	0.47102	0.607000	0.29982	0.561000	0.74099	GAT	MYO15B	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.657	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	MYO15B	HGNC	protein_coding	OTTHUMT00000448207.1	G	NM_004259		73620961	+1	no_errors	ENST00000293201	ensembl	human	known	70_37	missense	SNP	0.040	A
MYO18B	84700	genome.wustl.edu	37	22	26164885	26164885	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:26164885G>T	ENST00000407587.2	+	4	1171	c.1002G>T	c.(1000-1002)aaG>aaT	p.K334N	MYO18B_ENST00000536101.1_Missense_Mutation_p.K334N|MYO18B_ENST00000335473.7_Missense_Mutation_p.K334N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	334						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCAGAATAAGAAGGACAAAG	0.552																																																	0													33.0	34.0	34.0					22																	26164885		2012	4153	6165	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1002G>T	22.37:g.26164885G>T	ENSP00000386096:p.Lys334Asn		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K334N	ENST00000407587.2	37	c.1002		22	.	.	.	.	.	.	.	.	.	.	g	8.482	0.859966	0.17178	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89050	-2.44;-2.44;-2.46	4.98	3.96	0.45880	.	0.988525	0.08215	N	0.980018	D	0.83843	0.5342	L	0.29908	0.895	0.09310	N	1	B;P;P	0.36535	0.421;0.557;0.557	B;B;B	0.38616	0.143;0.277;0.277	T	0.75557	-0.3276	10	0.72032	D	0.01	.	8.1332	0.31039	0.0891:0.1624:0.7485:0.0	.	334;334;334	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	334	ENSP00000441229:K334N;ENSP00000334563:K334N;ENSP00000386096:K334N	ENSP00000334563:K334N	K	+	3	2	MYO18B	24494885	0.327000	0.24678	0.762000	0.31397	0.023000	0.10783	2.176000	0.42500	2.314000	0.78098	0.486000	0.48141	AAG	MYO18B	-	NULL		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	G	NM_032608		26164885	+1	no_errors	ENST00000335473	ensembl	human	known	70_37	missense	SNP	0.003	T
MYO1A	4640	genome.wustl.edu	37	12	57430602	57430602	+	Missense_Mutation	SNP	A	A	C	rs145027196	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:57430602A>C	ENST00000442789.2	-	22	2515	c.2228T>G	c.(2227-2229)aTa>aGa	p.I743R	MYO1A_ENST00000544473.1_Missense_Mutation_p.I581R|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.I743R	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	743	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGATGCCTTTATCTTCCCATA	0.438																																																	0													279.0	260.0	266.0					12																	57430602		2203	4300	6503	SO:0001583	missense	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2228T>G	12.37:g.57430602A>C	ENSP00000393392:p.Ile743Arg		Q9UQD7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I743R	ENST00000442789.2	37	c.2228	CCDS8929.1	12	.	.	.	.	.	.	.	.	.	.	A	11.33	1.605964	0.28623	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.69926	-0.44;-0.44;-0.44	5.43	5.43	0.79202	.	0.369306	0.31542	N	0.007461	T	0.44953	0.1318	N	0.08118	0	0.58432	D	0.999999	B	0.34103	0.437	B	0.32289	0.143	T	0.46317	-0.9200	10	0.23302	T	0.38	.	13.4325	0.61064	1.0:0.0:0.0:0.0	.	743	Q9UBC5	MYO1A_HUMAN	R	743;743;581	ENSP00000300119:I743R;ENSP00000393392:I743R;ENSP00000440514:I581R	ENSP00000300119:I743R	I	-	2	0	MYO1A	55716869	1.000000	0.71417	0.894000	0.35097	0.364000	0.29643	4.608000	0.61141	2.058000	0.61347	0.460000	0.39030	ATA	MYO1A	-	smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.438	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	A	NM_005379		57430602	-1	no_errors	ENST00000300119	ensembl	human	known	70_37	missense	SNP	0.996	C
MYO1A	4640	genome.wustl.edu	37	12	57436875	57436875	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:57436875C>T	ENST00000442789.2	-	13	1366	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	MYO1A_ENST00000544473.1_Missense_Mutation_p.R198Q|MYO1A_ENST00000300119.3_Missense_Mutation_p.R360Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	360	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCATTGATTCGATTCACTAT	0.542																																																	0													108.0	97.0	101.0					12																	57436875		2203	4300	6503	SO:0001583	missense	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1079G>A	12.37:g.57436875C>T	ENSP00000393392:p.Arg360Gln		Q9UQD7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R360Q	ENST00000442789.2	37	c.1079	CCDS8929.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.337651	0.95758	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473;ENST00000492945	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.95	4.95	0.65309	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	M	0.76574	2.34	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.94324	0.7556	10	0.87932	D	0	.	16.0975	0.81135	0.0:1.0:0.0:0.0	.	360	Q9UBC5	MYO1A_HUMAN	Q	360;360;198;56	ENSP00000300119:R360Q;ENSP00000393392:R360Q;ENSP00000440514:R198Q;ENSP00000452229:R56Q	ENSP00000300119:R360Q	R	-	2	0	MYO1A	55723142	0.996000	0.38824	0.999000	0.59377	0.983000	0.72400	7.587000	0.82613	2.744000	0.94065	0.655000	0.94253	CGA	MYO1A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.542	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	C	NM_005379		57436875	-1	no_errors	ENST00000300119	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO3B	140469	genome.wustl.edu	37	2	171071299	171071299	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:171071299C>A	ENST00000408978.4	+	5	630	c.487C>A	c.(487-489)Ctt>Att	p.L163I	MYO3B_ENST00000334231.6_Missense_Mutation_p.L172I|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Missense_Mutation_p.L163I	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GAATAACATTCTTCTGACAAC	0.458																																																	0													104.0	102.0	103.0					2																	171071299		1974	4171	6145	SO:0001583	missense	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.487C>A	2.37:g.171071299C>A	ENSP00000386213:p.Leu163Ile		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.L172I	ENST00000408978.4	37	c.514	CCDS42773.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.732888|4.732888	0.89482|0.89482	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231|ENST00000442690	T;T;T;T|.	0.34859|.	1.34;1.34;1.34;1.34|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86834|0.86834	0.6028|0.6028	M|M	0.92880|0.92880	3.355|3.355	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.78314|.	0.976;0.991;0.981;0.991|.	D|D	0.89527|0.89527	0.3782|0.3782	10|5	0.87932|.	D|.	0|.	.|.	19.554|19.554	0.95333|0.95333	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	163;163;163;163|.	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4|.	.;.;.;MYO3B_HUMAN|.	I|Y	163;163;162;172;172|162	ENSP00000386497:L163I;ENSP00000386213:L163I;ENSP00000446237:L172I;ENSP00000335100:L172I|.	ENSP00000314213:L162I|.	L|S	+|+	1|2	0|0	MYO3B|MYO3B	170779545|170779545	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.632000|2.632000	0.89209|0.89209	0.650000|0.650000	0.86243|0.86243	CTT|TCT	MYO3B	-	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		0.458	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	C			171071299	+1	no_errors	ENST00000334231	ensembl	human	known	70_37	missense	SNP	1.000	A
MYOCD	93649	genome.wustl.edu	37	17	12666899	12666899	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:12666899T>G	ENST00000343344.4	+	13	2755	c.2755T>G	c.(2755-2757)Ttc>Gtc	p.F919V	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.F967V			Q8IZQ8	MYCD_HUMAN	myocardin	919					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAACATCGATTTCCTGGATGT	0.522																																																	0													57.0	52.0	54.0					17																	12666899		2203	4300	6503	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2755T>G	17.37:g.12666899T>G	ENSP00000341835:p.Phe919Val		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.F967V	ENST00000343344.4	37	c.2899	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639820	0.87760	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.64438	-0.1;-0.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	P;D;P	0.83275	0.907;0.996;0.905	T	0.83003	-0.0176	10	0.87932	D	0	-35.0825	15.6264	0.76863	0.0:0.0:0.0:1.0	.	643;967;919	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	V	643;967;919;629	ENSP00000341835:F919V;ENSP00000400148:F629V	ENSP00000341835:F919V	F	+	1	0	MYOCD	12607624	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.649000	0.83500	2.333000	0.79357	0.533000	0.62120	TTC	MYOCD	-	NULL		0.522	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	T	NM_153604		12666899	+1	no_errors	ENST00000425538	ensembl	human	known	70_37	missense	SNP	1.000	G
MYOF	26509	genome.wustl.edu	37	10	95082920	95082920	+	Missense_Mutation	SNP	G	G	A	rs558864109		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:95082920G>A	ENST00000359263.4	-	48	5370	c.5371C>T	c.(5371-5373)Cgt>Tgt	p.R1791C	MYOF_ENST00000371501.4_Missense_Mutation_p.R1791C|MYOF_ENST00000358334.5_Missense_Mutation_p.R1778C|MYOF_ENST00000371502.4_Missense_Mutation_p.R1781C|MYOF_ENST00000485212.1_5'Flank	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1791					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGATCACACGCAGGTAGTAT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		20593	0.001		0.0	False		,,,				2504	0.0																0													261.0	243.0	249.0					10																	95082920		1964	4141	6105	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5371C>T	10.37:g.95082920G>A	ENSP00000352208:p.Arg1791Cys		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.R1791C	ENST00000359263.4	37	c.5371	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462636	0.84425	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;T	0.87029	-2.2;-2.2;-2.2;-0.77	5.36	5.36	0.76844	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.95806	0.8635	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96602	0.9445	10	0.87932	D	0	-10.7742	19.2909	0.94098	0.0:0.0:1.0:0.0	.	1778;1791	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	C	1778;1791;1791;1781	ENSP00000351094:R1778C;ENSP00000352208:R1791C;ENSP00000360556:R1791C;ENSP00000360557:R1781C	ENSP00000351094:R1778C	R	-	1	0	MYOF	95072910	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.346000	0.65992	2.797000	0.96272	0.563000	0.77884	CGT	MYOF	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.473	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	G	NM_013451		95082920	-1	no_errors	ENST00000359263	ensembl	human	known	70_37	missense	SNP	1.000	A
MYOM2	9172	genome.wustl.edu	37	8	2044137	2044137	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:2044137T>C	ENST00000262113.4	+	18	2317	c.2176T>C	c.(2176-2178)Tcc>Ccc	p.S726P	MYOM2_ENST00000523438.1_Missense_Mutation_p.S151P	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	726	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGACGGCCACTCCATGACCCT	0.577																																																	0													134.0	118.0	124.0					8																	2044137		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2176T>C	8.37:g.2044137T>C	ENSP00000262113:p.Ser726Pro		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S726P	ENST00000262113.4	37	c.2176	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380970	0.61845	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.63417	-0.04;-0.04	5.47	1.59	0.23543	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.187677	0.48767	D	0.000180	D	0.82683	0.5090	H	0.96633	3.855	0.42012	D	0.990942	D	0.89917	1.0	D	0.97110	1.0	T	0.81042	-0.1112	10	0.66056	D	0.02	.	7.7021	0.28630	0.2433:0.0:0.1275:0.6292	.	726	P54296	MYOM2_HUMAN	P	726;151	ENSP00000262113:S726P;ENSP00000428396:S151P	ENSP00000262113:S726P	S	+	1	0	MYOM2	2031544	1.000000	0.71417	0.844000	0.33320	0.543000	0.35085	4.549000	0.60726	0.022000	0.15160	-0.488000	0.04728	TCC	MYOM2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.577	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	T	NM_003970		2044137	+1	no_errors	ENST00000262113	ensembl	human	known	70_37	missense	SNP	0.980	C
MYRIP	25924	genome.wustl.edu	37	3	40299697	40299697	+	3'UTR	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:40299697C>T	ENST00000302541.6	+	0	2962				MYRIP_ENST00000539167.1_3'UTR|MYRIP_ENST00000396217.3_3'UTR|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein						intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CTGCCTCCGGCCGTACACGAC	0.567																																																	0													125.0	103.0	111.0					3																	40299697		2203	4300	6503	SO:0001624	3_prime_UTR_variant	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.*40C>T	3.37:g.40299697C>T			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	RNA	SNP	-	NULL	ENST00000302541.6	37	NULL	CCDS2689.1	3																																																																																			MYRIP	-	-		0.567	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	C	NM_015460		40299697	+1	no_errors	ENST00000459828	ensembl	human	known	70_37	rna	SNP	1.000	T
NAA16	79612	genome.wustl.edu	37	13	41932524	41932524	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:41932524C>A	ENST00000379406.3	+	11	1496	c.1172C>A	c.(1171-1173)tCt>tAt	p.S391Y	NAA16_ENST00000379367.3_Missense_Mutation_p.S391Y|NAA16_ENST00000403412.3_Missense_Mutation_p.S391Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	391					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GGACAGTATTCTTTGGCTTTG	0.368																																																	0													96.0	94.0	95.0					13																	41932524		2203	4300	6503	SO:0001583	missense	79612			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1172C>A	13.37:g.41932524C>A	ENSP00000368716:p.Ser391Tyr		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S391Y	ENST00000379406.3	37	c.1172	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	C	7.782	0.709782	0.15239	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.64085	0.89;0.89;-0.08	4.82	3.04	0.35103	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.190874	0.36815	N	0.002393	T	0.65637	0.2710	M	0.72118	2.19	0.26126	N	0.980487	B;B	0.32338	0.259;0.365	B;B	0.41619	0.285;0.361	T	0.63444	-0.6636	10	0.72032	D	0.01	-5.3384	10.8926	0.47004	0.0:0.8427:0.0:0.1573	.	391;391	Q6N069;Q6N069-4	NAA16_HUMAN;.	Y	391	ENSP00000368674:S391Y;ENSP00000368716:S391Y;ENSP00000386103:S391Y	ENSP00000368674:S391Y	S	+	2	0	NAA16	40830524	0.894000	0.30519	0.782000	0.31804	0.004000	0.04260	1.673000	0.37534	0.998000	0.38996	0.484000	0.47621	TCT	NAA16	-	smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom		0.368	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	C	NM_018527		41932524	+1	no_errors	ENST00000379406	ensembl	human	known	70_37	missense	SNP	0.431	A
NAALADL2	254827	genome.wustl.edu	37	3	174577206	174577206	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:174577206G>T	ENST00000454872.1	+	1	137	c.9G>T	c.(7-9)gaG>gaT	p.E3D		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	3						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AAATGGGAGAGAATGAAGCAA	0.373																																																	0													88.0	87.0	87.0					3																	174577206		1870	4088	5958	SO:0001583	missense	254827				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.9G>T	3.37:g.174577206G>T	ENSP00000404705:p.Glu3Asp		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.E3D	ENST00000454872.1	37	c.9	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292328	0.40594	.	.	ENSG00000177694	ENST00000454872	T	0.34275	1.37	5.85	4.05	0.47172	.	.	.	.	.	T	0.37489	0.1005	N	0.08118	0	0.22541	N	0.999003	D	0.76494	0.999	D	0.78314	0.991	T	0.18241	-1.0343	9	0.87932	D	0	.	9.4257	0.38578	0.2156:0.0:0.7844:0.0	.	3	Q58DX5	NADL2_HUMAN	D	3	ENSP00000404705:E3D	ENSP00000404705:E3D	E	+	3	2	NAALADL2	176059900	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	3.791000	0.55469	1.628000	0.50416	-0.148000	0.13756	GAG	NAALADL2	-	NULL		0.373	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	G	NM_207015		174577206	+1	no_errors	ENST00000454872	ensembl	human	known	70_37	missense	SNP	1.000	T
NACA2	342538	genome.wustl.edu	37	17	59668212	59668212	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:59668212G>A	ENST00000521764.1	-	1	351	c.330C>T	c.(328-330)gaC>gaT	p.D110D		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	110	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCTTGTAGACGTCCAGTTTTG	0.443																																																	0													183.0	181.0	181.0					17																	59668212		2203	4300	6503	SO:0001819	synonymous_variant	342538			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.330C>T	17.37:g.59668212G>A			Q2VIR9	Silent	SNP	pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pirsf_Nas_poly-pep-assoc_cplx_asu,pfscan_Nas_poly-pep-assoc_cplx	p.D110	ENST00000521764.1	37	c.330	CCDS11630.1	17																																																																																			NACA2	-	pfam_Nas_poly-pep-assoc_cplx,pirsf_Nas_poly-pep-assoc_cplx_asu,pfscan_Nas_poly-pep-assoc_cplx		0.443	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACA2	HGNC	protein_coding	OTTHUMT00000255437.2	G	NM_199290		59668212	-1	no_errors	ENST00000521764	ensembl	human	known	70_37	silent	SNP	1.000	A
NANOG	79923	genome.wustl.edu	37	12	7947426	7947426	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:7947426A>G	ENST00000229307.4	+	4	872	c.653A>G	c.(652-654)aAc>aGc	p.N218S	NANOG_ENST00000526286.1_Missense_Mutation_p.N202S	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	218	8 X repeats starting with a Trp in each unit.|Sufficient for transactivation activity. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TCCTGGAGCAACCACTCCTGG	0.542																																																	0													4.0	4.0	4.0					12																	7947426		1814	3755	5569	SO:0001583	missense	79923			AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.653A>G	12.37:g.7947426A>G	ENSP00000229307:p.Asn218Ser		D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.N218S	ENST00000229307.4	37	c.653	CCDS31736.1	12	.	.	.	.	.	.	.	.	.	.	A	9.048	0.991404	0.18966	.	.	ENSG00000111704	ENST00000229307;ENST00000526286	D;D	0.91407	-2.84;-2.8	3.74	-2.93	0.05598	.	1.229440	0.05455	N	0.550190	D	0.82999	0.5159	L	0.34521	1.04	0.09310	N	1	B	0.25609	0.13	B	0.22152	0.038	T	0.68941	-0.5276	10	0.48119	T	0.1	-2.7458	5.1602	0.15056	0.3511:0.192:0.4569:0.0	.	218	Q9H9S0	NANOG_HUMAN	S	218;202	ENSP00000229307:N218S;ENSP00000435288:N202S	ENSP00000229307:N218S	N	+	2	0	NANOG	7838693	0.977000	0.34250	0.006000	0.13384	0.867000	0.49689	-0.368000	0.07543	-0.449000	0.07117	0.449000	0.29647	AAC	NANOG	-	NULL		0.542	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANOG	HGNC	protein_coding	OTTHUMT00000387480.2	A	NM_024865		7947426	+1	no_errors	ENST00000229307	ensembl	human	known	70_37	missense	SNP	0.004	G
NAT16	375607	genome.wustl.edu	37	7	100816802	100816802	+	Splice_Site	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:100816802C>A	ENST00000300303.2	-	3	551		c.e3-1		NAT16_ENST00000455377.1_Splice_Site	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)								N-acetyltransferase activity (GO:0008080)										CCAGCGCGATCTGCGGACCGA	0.741																																																	0													17.0	18.0	18.0					7																	100816802		2192	4286	6478	SO:0001630	splice_region_variant	375607			AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.313-1G>T	7.37:g.100816802C>A			B3KRS2|Q8NDR1	Splice_Site	SNP	-	e2-1	ENST00000300303.2	37	c.313-1	CCDS5713.1	7	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711109	0.68730	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446	.	.	.	3.72	2.83	0.33086	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9844	0.35986	0.0:0.8849:0.0:0.1151	.	.	.	.	.	-1	.	.	.	-	.	.	C7orf52	100603522	1.000000	0.71417	0.286000	0.24833	0.983000	0.72400	4.362000	0.59467	0.875000	0.35847	0.462000	0.41574	.	NAT16	-	-		0.741	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT16	HGNC	protein_coding	OTTHUMT00000347465.1	C	NM_198571	Intron	100816802	-1	no_errors	ENST00000300303	ensembl	human	known	70_37	splice_site	SNP	1.000	A
NAV3	89795	genome.wustl.edu	37	12	78444581	78444581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:78444581G>T	ENST00000397909.2	+	11	2343	c.2170G>T	c.(2170-2172)Gaa>Taa	p.E724*	NAV3_ENST00000228327.6_Nonsense_Mutation_p.E724*|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000266692.7_Nonsense_Mutation_p.E724*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E724*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	724						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGTGACAACAGAAGTTAATGG	0.493										HNSCC(70;0.22)																																							0													138.0	129.0	132.0					12																	78444581		1962	4158	6120	SO:0001587	stop_gained	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2170G>T	12.37:g.78444581G>T	ENSP00000381007:p.Glu724*		Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E724*	ENST00000397909.2	37	c.2170		12	.	.	.	.	.	.	.	.	.	.	G	41	8.637091	0.98895	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.	.	.	5.79	5.79	0.91817	.	0.000000	0.41294	U	0.000917	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.4438	20.031	0.97536	0.0:0.0:1.0:0.0	.	.	.	.	X	724	.	ENSP00000228327:E724X	E	+	1	0	NAV3	76968712	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.425000	0.97467	2.735000	0.93741	0.655000	0.94253	GAA	NAV3	-	NULL		0.493	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78444581	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NBEAL1	65065	genome.wustl.edu	37	2	204016230	204016230	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:204016230T>G	ENST00000449802.1	+	34	5751	c.5418T>G	c.(5416-5418)aaT>aaG	p.N1806K		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1806										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						ATGTAGAGAATTATTCCCGCA	0.348																																																	0													85.0	79.0	81.0					2																	204016230		1823	4076	5899	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.5418T>G	2.37:g.204016230T>G	ENSP00000399903:p.Asn1806Lys		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.N1806K	ENST00000449802.1	37	c.5418	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258652	0.59321	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.55234	0.53	5.04	2.66	0.31614	.	0.050947	0.85682	D	0.000000	T	0.68467	0.3004	M	0.81497	2.545	0.48135	D	0.999594	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.68119	-0.5493	10	0.59425	D	0.04	.	7.5447	0.27759	0.0:0.2916:0.0:0.7084	.	1806;1795	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	K	1806	ENSP00000399903:N1806K	ENSP00000344985:N1806K	N	+	3	2	NBEAL1	203724475	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	0.777000	0.26718	0.772000	0.33382	-0.466000	0.05196	AAT	NBEAL1	-	NULL		0.348	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	T			204016230	+1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	1.000	G
NBEAL2	23218	genome.wustl.edu	37	3	47047475	47047475	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:47047475G>A	ENST00000450053.3	+	43	7020	c.6841G>A	c.(6841-6843)Gac>Aac	p.D2281N	NBEAL2_ENST00000383740.2_Missense_Mutation_p.D560N|NBEAL2_ENST00000292309.5_Missense_Mutation_p.D2097N	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2281	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGAGTGGATCGACCTCATCTT	0.582																																																	0													70.0	83.0	78.0					3																	47047475		2135	4249	6384	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.6841G>A	3.37:g.47047475G>A	ENSP00000415034:p.Asp2281Asn		O60288|Q6P994|Q6UX91|Q8NAC9	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.D2281N	ENST00000450053.3	37	c.6841	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.191800|5.191800	0.94923|0.94923	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550;ENST00000423436|ENST00000443829	D;D;D;D|.	0.90385|.	-2.66;-2.66;-2.66;-2.66|.	4.78|4.78	4.78|4.78	0.61160|0.61160	BEACH domain (4);|.	0.053760|.	0.64402|.	D|.	0.000001|.	D|D	0.86234|0.86234	0.5884|0.5884	M|M	0.93978|0.93978	3.48|3.48	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.996|.	D|D	0.89970|0.89970	0.4093|0.4093	10|5	0.87932|.	D|.	0|.	.|.	16.5572|16.5572	0.84488|0.84488	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2097;2281|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	N|Q	2097;560;2281;224;108|649	ENSP00000292309:D2097N;ENSP00000373246:D560N;ENSP00000415034:D2281N;ENSP00000415063:D108N|.	ENSP00000292309:D2097N|.	D|R	+|+	1|2	0|0	NBEAL2|NBEAL2	47022479|47022479	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.743000|7.743000	0.85020|0.85020	2.487000|2.487000	0.83934|0.83934	0.561000|0.561000	0.74099|0.74099	GAC|CGA	NBEAL2	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.582	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47047475	+1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	1.000	A
NBPF1	55672	genome.wustl.edu	37	1	16935096	16935096	+	5'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:16935096G>T	ENST00000430580.2	-	0	328					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGGCCTCGGAGAATCCACTGG	0.577											OREG0004737	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0																																										SO:0001623	5_prime_UTR_variant	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.-560C>A	1.37:g.16935096G>T		714	Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-		0.577	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	G	NM_017940		16935096	-1	no_errors	ENST00000420513	ensembl	human	known	70_37	rna	SNP	0.002	T
NCAM1	4684	genome.wustl.edu	37	11	113147597	113147597	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:113147597T>G	ENST00000397957.4	+	0	4276				RP11-839D17.3_ENST00000533504.1_RNA|NCAM1_ENST00000316851.7_3'UTR|RP11-839D17.3_ENST00000529416.1_RNA|NCAM1-AS1_ENST00000526229.1_RNA|RP11-839D17.3_ENST00000526487.1_RNA			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGTATAGAAATTTTGCTTTTT	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000397957.4:c.*4273T>G	11.37:g.113147597T>G			A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	RNA	SNP	-	NULL	ENST00000397957.4	37	NULL		11																																																																																			NCAM1	-	-		0.408	NCAM1-001	KNOWN	basic	processed_transcript	NCAM1	HGNC	protein_coding	OTTHUMT00000393677.2	T	NM_000615		113147597	+1	no_errors	ENST00000397957	ensembl	human	known	70_37	rna	SNP	1.000	G
NCAM2	4685	genome.wustl.edu	37	21	22790877	22790877	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:22790877C>A	ENST00000400546.1	+	11	1717	c.1468C>A	c.(1468-1470)Ctt>Att	p.L490I	NCAM2_ENST00000284894.7_Missense_Mutation_p.L348I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	490	Ig-like C2-type 5.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGAATATATTCTTGCTTTGGC	0.318																																																	0													99.0	95.0	96.0					21																	22790877		1828	4087	5915	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1468C>A	21.37:g.22790877C>A	ENSP00000383392:p.Leu490Ile		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.L490I	ENST00000400546.1	37	c.1468	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279140	0.80692	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.52526	0.66;0.66	5.07	5.07	0.68467	Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	M	0.91972	3.26	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.91635	0.999;0.999	T	0.82248	-0.0551	10	0.87932	D	0	-15.5885	17.0099	0.86403	0.0:1.0:0.0:0.0	.	348;490	B7Z5K2;O15394	.;NCAM2_HUMAN	I	490;348	ENSP00000383392:L490I;ENSP00000284894:L348I	ENSP00000284894:L348I	L	+	1	0	NCAM2	21712748	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.215000	0.58534	2.359000	0.80004	0.467000	0.42956	CTT	NCAM2	-	superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like		0.318	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	C	NM_004540		22790877	+1	no_errors	ENST00000400546	ensembl	human	known	70_37	missense	SNP	1.000	A
NCAPH2	29781	genome.wustl.edu	37	22	50954903	50954903	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:50954903G>A	ENST00000420993.2	+	2	258	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	NCAPH2_ENST00000395698.3_Missense_Mutation_p.E46K|NCAPH2_ENST00000395701.3_Missense_Mutation_p.E46K|NCAPH2_ENST00000299821.11_Missense_Mutation_p.E46K	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	46					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TTCTTTTGACGAAGGCAAGAC	0.537																																																	0													172.0	144.0	153.0					22																	50954903		2203	4300	6503	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.136G>A	22.37:g.50954903G>A	ENSP00000410088:p.Glu46Lys		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.E46K	ENST00000420993.2	37	c.136	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306083	0.60305	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000299821	.	.	.	5.09	3.01	0.34805	.	0.116817	0.56097	N	0.000023	T	0.17109	0.0411	N	0.03608	-0.345	0.41046	D	0.985264	B;B;B;B	0.33379	0.054;0.054;0.032;0.41	B;B;B;B	0.20577	0.011;0.017;0.005;0.03	T	0.11767	-1.0574	9	0.08381	T	0.77	-8.3601	9.8173	0.40860	0.1692:0.0:0.8308:0.0	.	46;46;46;46	Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.;.;CNDH2_HUMAN;.	K	46	.	ENSP00000299821:E46K	E	+	1	0	NCAPH2	49301769	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	5.275000	0.65575	1.155000	0.42497	0.491000	0.48974	GAA	NCAPH2	-	NULL		0.537	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	G	NM_152299		50954903	+1	no_errors	ENST00000299821	ensembl	human	known	70_37	missense	SNP	0.999	A
NCAPH2	29781	genome.wustl.edu	37	22	50956613	50956613	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:50956613C>T	ENST00000420993.2	+	7	674	c.552C>T	c.(550-552)tgC>tgT	p.C184C	NCAPH2_ENST00000395698.3_Silent_p.C184C|NCAPH2_ENST00000395701.3_Silent_p.C184C|NCAPH2_ENST00000299821.11_Silent_p.C184C	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	184					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TGAACACGTGCGTTCCCCACC	0.637																																																	0													54.0	57.0	56.0					22																	50956613		2203	4300	6503	SO:0001819	synonymous_variant	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.552C>T	22.37:g.50956613C>T			B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Silent	SNP	pfam_Condensin_II_H2-like	p.C184	ENST00000420993.2	37	c.552	CCDS14094.2	22																																																																																			NCAPH2	-	pfam_Condensin_II_H2-like		0.637	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	C	NM_152299		50956613	+1	no_errors	ENST00000299821	ensembl	human	known	70_37	silent	SNP	0.855	T
NCOR1P1	149934	genome.wustl.edu	37	20	26084087	26084087	+	RNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:26084087A>C	ENST00000478176.1	-	0	370					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		agggagaaaaacataCATTCT	0.303																																																	0													73.0	55.0	61.0					20																	26084087		692	1588	2280			149934			AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084087A>C			A2RUA0	RNA	SNP	-	NULL	ENST00000478176.1	37	NULL		20																																																																																			NCOR1P1	-	-		0.303	NCOR1P1-001	KNOWN	basic	processed_transcript	NCOR1P1	HGNC	pseudogene	OTTHUMT00000078478.2	A			26084087	-1	no_errors	ENST00000478176	ensembl	human	known	70_37	rna	SNP	0.010	C
NCOR2	9612	genome.wustl.edu	37	12	124812015	124812015	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:124812015G>A	ENST00000405201.1	-	45	7123	c.7123C>T	c.(7123-7125)Ccc>Tcc	p.P2375S	NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.P2365S|NCOR2_ENST00000356219.3_Missense_Mutation_p.P2382S|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1936S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2386					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ATAGCAGCGGGCAGGCTGGCA	0.612																																																	0													63.0	70.0	67.0					12																	124812015		2115	4226	6341	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.7123C>T	12.37:g.124812015G>A	ENSP00000384018:p.Pro2375Ser		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P2382S	ENST00000405201.1	37	c.7144	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815342	0.50527	.	.	ENSG00000196498	ENST00000405201;ENST00000356219;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T	0.16597	2.33;2.33;2.33;2.59	5.18	5.18	0.71444	.	0.322570	0.24544	N	0.037604	T	0.20210	0.0486	N	0.20530	0.585	0.33267	D	0.560447	P	0.45396	0.857	P	0.49665	0.618	T	0.08827	-1.0703	10	0.35671	T	0.21	-26.1552	18.6673	0.91495	0.0:0.0:1.0:0.0	.	2375	C9JFD3	.	S	2375;2382;2374;1936;467;2365	ENSP00000384018:P2375S;ENSP00000348551:P2382S;ENSP00000385618:P1936S;ENSP00000400281:P2365S	ENSP00000348551:P2382S	P	-	1	0	NCOR2	123377968	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.612000	0.46343	2.394000	0.81467	0.491000	0.48974	CCC	NCOR2	-	NULL		0.612	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	G	NM_006312		124812015	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	missense	SNP	1.000	A
NDE1	54820	genome.wustl.edu	37	16	15788036	15788036	+	Missense_Mutation	SNP	A	A	G	rs140540712		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:15788036A>G	ENST00000396353.2	+	8	1544	c.718A>G	c.(718-720)Acc>Gcc	p.T240A	NDE1_ENST00000342673.5_Missense_Mutation_p.T240A|NDE1_ENST00000396354.1_Missense_Mutation_p.T240A|NDE1_ENST00000396355.1_Missense_Mutation_p.T240A			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	240	Interaction with CENPF. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GGACGACTCCACCGGGGGGAC	0.572																																																	0								A	ALA/THR,ALA/THR	3,4391	6.2+/-15.9	0,3,2194	45.0	38.0	41.0		718,718	-0.6	0.0	16	dbSNP_134	41	0,8600		0,0,4300	no	missense,missense	NDE1	NM_001143979.1,NM_017668.2	58,58	0,3,6494	GG,GA,AA		0.0,0.0683,0.0231	benign,benign	240/336,240/336	15788036	3,12991	2197	4300	6497	SO:0001583	missense	54820			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.718A>G	16.37:g.15788036A>G	ENSP00000379641:p.Thr240Ala		Q49AQ2	Missense_Mutation	SNP	pfam_NUDE_C	p.T240A	ENST00000396353.2	37	c.718		16	.	.	.	.	.	.	.	.	.	.	A	7.181	0.589625	0.13812	6.83E-4	0.0	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.15	-0.652	0.11450	NUDE protein, C-terminal (1);	0.697129	0.15218	N	0.274080	T	0.20455	0.0492	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20371	-1.0277	9	0.12766	T	0.61	-29.5309	4.2571	0.10722	0.2833:0.0:0.2064:0.5104	.	240;240	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	A	240	.	ENSP00000345892:T240A	T	+	1	0	NDE1	15695537	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	0.087000	0.14958	0.043000	0.15746	0.482000	0.46254	ACC	NDE1	-	pfam_NUDE_C		0.572	NDE1-202	KNOWN	basic|appris_principal	protein_coding	NDE1	HGNC	protein_coding		A	NM_017668		15788036	+1	no_errors	ENST00000396353	ensembl	human	known	70_37	missense	SNP	0.000	G
NDNF	79625	genome.wustl.edu	37	4	121958454	121958454	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:121958454G>T	ENST00000379692.4	-	4	1198	c.672C>A	c.(670-672)ctC>ctA	p.L224L	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	224					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CCACTGCACAGAGACTTTTGA	0.478																																																	0													156.0	159.0	158.0					4																	121958454		2203	4300	6503	SO:0001819	synonymous_variant	79625			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.672C>A	4.37:g.121958454G>T			A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.L224	ENST00000379692.4	37	c.672	CCDS3717.2	4																																																																																			NDNF	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.478	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	G	NM_024574		121958454	-1	no_errors	ENST00000379692	ensembl	human	known	70_37	silent	SNP	1.000	T
NDUFS2	4720	genome.wustl.edu	37	1	161180448	161180448	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:161180448G>A	ENST00000367993.3	+	10	1382	c.934G>A	c.(934-936)Gac>Aac	p.D312N	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000476409.2_Missense_Mutation_p.D214N|NDUFS2_ENST00000392179.4_Missense_Mutation_p.D312N	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	312					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	TGATGTTTACGACCAGGTTGA	0.527																																																	0													151.0	118.0	130.0					1																	161180448		2203	4300	6503	SO:0001583	missense	4720			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.934G>A	1.37:g.161180448G>A	ENSP00000356972:p.Asp312Asn		D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H	p.D312N	ENST00000367993.3	37	c.934	CCDS1224.1	1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710253	0.68730	.	.	ENSG00000158864	ENST00000367993;ENST00000392179;ENST00000476409	D;D;D	0.89343	-2.5;-2.5;-2.5	5.14	4.23	0.50019	NADH-quinone oxidoreductase, subunit D (1);	0.147583	0.64402	D	0.000019	D	0.84147	0.5408	M	0.81682	2.555	0.44789	D	0.997793	B;B;B;B	0.26602	0.154;0.037;0.122;0.122	B;B;B;B	0.27170	0.032;0.032;0.077;0.077	D	0.84263	0.0484	9	0.51188	T	0.08	.	12.8757	0.57989	0.0801:0.0:0.9199:0.0	.	261;214;312;312	B7Z792;B7Z9L2;Q53HG2;O75306	.;.;.;NDUS2_HUMAN	N	312;312;214	ENSP00000356972:D312N;ENSP00000376018:D312N;ENSP00000446447:D214N	ENSP00000356972:D312N	D	+	1	0	NDUFS2	159447072	1.000000	0.71417	0.846000	0.33378	0.968000	0.65278	8.822000	0.92013	1.393000	0.46605	0.555000	0.69702	GAC	NDUFS2	-	pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H		0.527	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	G	NM_004550		161180448	+1	no_errors	ENST00000367993	ensembl	human	known	70_37	missense	SNP	0.999	A
NDUFS6	4726	genome.wustl.edu	37	5	1802490	1802490	+	Splice_Site	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:1802490T>C	ENST00000274137.5	+	2	204		c.e2+2		MRPL36_ENST00000382647.7_5'Flank|NDUFS6_ENST00000469176.1_Splice_Site|MRPL36_ENST00000505818.1_5'Flank|MRPL36_ENST00000505059.2_5'Flank|MRPL36_ENST00000508987.1_5'Flank	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)						cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						CAGAAAGAGGTGAGTAAAAAA	0.308																																																	0			GRCh37	CS042823	NDUFS6	S							85.0	91.0	89.0					5																	1802490		2203	4300	6503	SO:0001630	splice_region_variant	4726			BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7713	protein-coding gene	gene with protein product	"""complex I 13kDa subunit A"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"""	603848	"""NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.186+2T>C	5.37:g.1802490T>C				Splice_Site	SNP	-	e2+2	ENST00000274137.5	37	c.186+2	CCDS3866.1	5	.	.	.	.	.	.	.	.	.	.	T	10.31	1.314643	0.23908	.	.	ENSG00000145494	ENST00000274137;ENST00000469176	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.074	0.48021	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDUFS6	1855490	1.000000	0.71417	0.890000	0.34922	0.281000	0.26958	4.937000	0.63513	1.591000	0.50007	0.456000	0.33151	.	NDUFS6	-	-		0.308	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS6	HGNC	protein_coding	OTTHUMT00000206744.2	T	NM_004553	Intron	1802490	+1	no_errors	ENST00000274137	ensembl	human	known	70_37	splice_site	SNP	0.998	C
NEB	4703	genome.wustl.edu	37	2	152348657	152348657	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:152348657C>A	ENST00000172853.10	-	145	19591	c.19444G>T	c.(19444-19446)Gaa>Taa	p.E6482*	NEB_ENST00000409198.1_Nonsense_Mutation_p.E6482*|NEB_ENST00000603639.1_Nonsense_Mutation_p.E8338*|NEB_ENST00000397336.2_Nonsense_Mutation_p.E313*|NEB_ENST00000427231.2_Nonsense_Mutation_p.E8338*|NEB_ENST00000397345.3_Nonsense_Mutation_p.E8338*|NEB_ENST00000509223.2_Nonsense_Mutation_p.E251*|RIF1_ENST00000457745.1_Intron|NEB_ENST00000604864.1_Nonsense_Mutation_p.E8338*|NEB_ENST00000498015.2_5'UTR			P20929	NEBU_HUMAN	nebulin	6482	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTTCCATTTCTACCACTTTC	0.448																																																	0													247.0	238.0	241.0					2																	152348657		1950	4135	6085	SO:0001587	stop_gained	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19444G>T	2.37:g.152348657C>A	ENSP00000172853:p.Glu6482*		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.E8338*	ENST00000172853.10	37	c.25012		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.203671|5.203671	0.95033|0.95033	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223|ENST00000397337;ENST00000434685	.|.	.|.	.|.	4.97|4.97	4.08|4.08	0.47627|0.47627	.|.	0.049811|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.15952|.	T|.	0.53|.	.|.	15.0692|15.0692	0.72021|0.72021	0.0:0.8572:0.1428:0.0|0.0:0.8572:0.1428:0.0	.|.	.|.	.|.	.|.	X|Y	6482;8338;8338;2438;2820;6482;313;251|471;578	.|.	ENSP00000172853:E6482X|.	E|X	-|-	1|3	0|2	NEB|NEB	152056903|152056903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.790000|4.790000	0.62453|0.62453	1.281000|1.281000	0.44480|0.44480	0.563000|0.563000	0.77884|0.77884	GAA|TAG	NEB	-	NULL		0.448	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152348657	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152518712	152518712	+	Nonsense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:152518712A>C	ENST00000172853.10	-	46	6054	c.5907T>G	c.(5905-5907)taT>taG	p.Y1969*	NEB_ENST00000409198.1_Nonsense_Mutation_p.Y1969*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Y1969*|NEB_ENST00000427231.2_Nonsense_Mutation_p.Y1969*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Y1969*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Y1969*			P20929	NEBU_HUMAN	nebulin	1969			Y -> H (in dbSNP:rs34532796).		muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAGTGTGGAATACTTCAAAG	0.423																																																	0													113.0	109.0	110.0					2																	152518712		1916	4116	6032	SO:0001587	stop_gained	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5907T>G	2.37:g.152518712A>C	ENSP00000172853:p.Tyr1969*		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Y1969*	ENST00000172853.10	37	c.5907		2	.	.	.	.	.	.	.	.	.	.	A	47	13.608742	0.99752	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.86	0.853	0.19001	.	0.057329	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.411	0.44294	0.6706:0.0:0.3294:0.0	.	.	.	.	X	1969	.	ENSP00000172853:Y1969X	Y	-	3	2	NEB	152226958	0.985000	0.35326	0.998000	0.56505	0.969000	0.65631	0.290000	0.18975	-0.017000	0.14103	-0.263000	0.10527	TAT	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.423	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		A	NM_004543		152518712	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	nonsense	SNP	1.000	C
NEDD4	4734	genome.wustl.edu	37	15	56130719	56130719	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:56130719T>G	ENST00000508342.1	-	18	3671	c.3372A>C	c.(3370-3372)gaA>gaC	p.E1124D	NEDD4_ENST00000338963.2_Missense_Mutation_p.E1052D|NEDD4_ENST00000435532.3_Missense_Mutation_p.E705D|NEDD4_ENST00000506154.1_Missense_Mutation_p.E1108D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1124	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTCCAAAAAGTTCTTCATCTA	0.328																																																	0													86.0	86.0	86.0					15																	56130719		2192	4290	6482	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3372A>C	15.37:g.56130719T>G	ENSP00000424827:p.Glu1124Asp		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.E1124D	ENST00000508342.1	37	c.3372		15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.05|14.05	2.420764|2.420764	0.42918|0.42918	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39|.	5.69|5.69	0.805|0.805	0.18703|0.18703	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.37972|0.37972	0.1023|0.1023	N|N	0.17800|0.17800	0.525|0.525	0.58432|0.58432	D|D	0.999996|0.999996	D;B;B;B|.	0.58970|.	0.984;0.001;0.005;0.004|.	D;B;B;B|.	0.65140|.	0.932;0.004;0.019;0.011|.	T|T	0.05971|0.05971	-1.0853|-1.0853	10|5	0.45353|.	T|.	0.12|.	.|.	9.0227|9.0227	0.36209|0.36209	0.0:0.2866:0.0:0.7134|0.0:0.2866:0.0:0.7134	.|.	1108;705;1124;1052|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	D|T	1124;705;1052;1108|715	ENSP00000424827:E1124D;ENSP00000410613:E705D;ENSP00000345530:E1052D;ENSP00000422705:E1108D|.	ENSP00000345530:E1052D|.	E|N	-|-	3|2	2|0	NEDD4|NEDD4	53918011|53918011	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	0.332000|0.332000	0.19751|0.19751	0.091000|0.091000	0.17302|0.17302	0.528000|0.528000	0.53228|0.53228	GAA|AAC	NEDD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.328	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359817.1	T	NM_198400		56130719	-1	no_errors	ENST00000508342	ensembl	human	known	70_37	missense	SNP	1.000	G
NEFM	4741	genome.wustl.edu	37	8	24775212	24775212	+	Missense_Mutation	SNP	C	C	A	rs368372835		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:24775212C>A	ENST00000221166.5	+	3	2626	c.1844C>A	c.(1843-1845)tCt>tAt	p.S615Y	NEFM_ENST00000437366.2_Missense_Mutation_p.S615Y|NEFM_ENST00000521540.1_Intron|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.S239Y			P07197	NFM_HUMAN	neurofilament, medium polypeptide	615	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGCCAAGTCTCCTGTGCCA	0.512																																																	0													67.0	71.0	70.0					8																	24775212		2203	4300	6503	SO:0001583	missense	4741			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1844C>A	8.37:g.24775212C>A	ENSP00000221166:p.Ser615Tyr		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.S615Y	ENST00000221166.5	37	c.1844	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995701	0.35226	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.96073	-1.86;-1.98;-3.9	4.46	4.46	0.54185	.	0.396649	0.19305	N	0.117552	D	0.91626	0.7354	N	0.08118	0	0.21897	N	0.999488	D	0.56968	0.978	P	0.52267	0.694	D	0.85848	0.1402	10	0.72032	D	0.01	.	11.1916	0.48687	0.1842:0.8158:0.0:0.0	.	615	P07197	NFM_HUMAN	Y	615;615;239	ENSP00000221166:S615Y;ENSP00000410137:S615Y;ENSP00000412295:S239Y	ENSP00000221166:S615Y	S	+	2	0	NEFM	24831117	0.058000	0.20735	0.977000	0.42913	0.913000	0.54294	0.810000	0.27183	2.019000	0.59389	0.313000	0.20887	TCT	NEFM	-	NULL		0.512	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	C	NM_005382		24775212	+1	no_errors	ENST00000221166	ensembl	human	known	70_37	missense	SNP	0.497	A
NEFL	4747	genome.wustl.edu	37	8	24809849	24809849	+	RNA	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:24809849T>G	ENST00000221169.5	-	0	2701							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGTGCCATCTTTAAGGTATT	0.274																																																	0																																												4747				CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24809849T>G			B9ZVN2|Q16154|Q8IU72	RNA	SNP	-	NULL	ENST00000221169.5	37	NULL		8																																																																																			NEFL	-	-		0.274	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	NEFL	HGNC	processed_transcript	OTTHUMT00000258943.4	T	NM_006158		24809849	-1	no_errors	ENST00000221169	ensembl	human	known	70_37	rna	SNP	0.011	G
NEK10	152110	genome.wustl.edu	37	3	27297822	27297822	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:27297822T>G	ENST00000429845.2	-	24	2417	c.2055A>C	c.(2053-2055)aaA>aaC	p.K685N	NEK10_ENST00000357467.2_Missense_Mutation_p.K82N|NEK10_ENST00000341435.5_Missense_Mutation_p.K685N			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	685	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAGAGGTGAGTTTACTGTTTT	0.348																																																	0													126.0	121.0	123.0					3																	27297822		2202	4300	6502	SO:0001583	missense	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2055A>C	3.37:g.27297822T>G	ENSP00000395849:p.Lys685Asn		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K685N	ENST00000429845.2	37	c.2055		3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	13.64|13.64|13.64	2.297282|2.297282|2.297282	0.40694|0.40694|0.40694	.|.|.	.|.|.	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000357467;ENST00000341435|ENST00000424275|ENST00000435584	T;T|.|.	0.65916|.|.	-0.18;-0.18|.|.	4.96|4.96|4.96	0.83|0.83|0.83	0.18854|0.18854|0.18854	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.34164|0.34164|0.34164	0.0888|0.0888|0.0888	L|L|L	0.28014|0.28014|0.28014	0.82|0.82|0.82	0.32490|0.32490|0.32490	N|N|N	0.540323|0.540323|0.540323	P;B|.|.	0.44006|.|.	0.824;0.071|.|.	B;B|.|.	0.43575|.|.	0.424;0.078|.|.	T|T|T	0.41466|0.41466|0.41466	-0.9507|-0.9507|-0.9507	9|5|5	0.25106|.|.	T|.|.	0.35|.|.	.|.|.	7.1221|7.1221|7.1221	0.25450|0.25450|0.25450	0.0:0.3466:0.0:0.6534|0.0:0.3466:0.0:0.6534|0.0:0.3466:0.0:0.6534	.|.|.	685;82|.|.	Q6ZWH5;Q8N774|.|.	NEK10_HUMAN;.|.|.	N|T|P	82;685|172|142	ENSP00000350059:K82N;ENSP00000343847:K685N|.|.	ENSP00000343847:K685N|.|.	K|N|T	-|-|-	3|2|1	2|0|0	NEK10|NEK10|NEK10	27272826|27272826|27272826	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	0.805000|0.805000|0.805000	0.27112|0.27112|0.27112	-0.031000|-0.031000|-0.031000	0.13781|0.13781|0.13781	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	AAA|AAC|ACT	NEK10	-	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		0.348	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	T	NM_152534		27297822	-1	no_errors	ENST00000341435	ensembl	human	known	70_37	missense	SNP	1.000	G
NELL2	4753	genome.wustl.edu	37	12	45000955	45000955	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:45000955T>A	ENST00000429094.2	-	15	2164	c.1660A>T	c.(1660-1662)Acg>Tcg	p.T554S	NELL2_ENST00000551601.1_Missense_Mutation_p.T553S|NELL2_ENST00000452445.2_Missense_Mutation_p.T554S|NELL2_ENST00000333837.4_Missense_Mutation_p.T577S|NELL2_ENST00000437801.2_Missense_Mutation_p.T604S|NELL2_ENST00000395487.2_Missense_Mutation_p.T553S|NELL2_ENST00000549027.1_Missense_Mutation_p.T553S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	554						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTCTTACCCGTTTCACAGCTG	0.403																																																	0													69.0	68.0	68.0					12																	45000955		2203	4299	6502	SO:0001583	missense	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1660A>T	12.37:g.45000955T>A	ENSP00000390680:p.Thr554Ser		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.T604S	ENST00000429094.2	37	c.1810	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	T	15.41	2.826423	0.50739	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	D;D;D;D;D;D;D	0.95622	-2.26;-2.26;-2.91;-2.26;-2.26;-3.76;-2.26	5.77	4.62	0.57501	.	0.095098	0.64402	D	0.000001	D	0.91109	0.7201	L	0.46567	1.45	0.42490	D	0.992892	P;B;B;B;B	0.37441	0.595;0.085;0.059;0.049;0.021	B;B;B;B;B	0.34931	0.192;0.022;0.021;0.021;0.023	D	0.87197	0.2238	10	0.15952	T	0.53	.	9.3642	0.38215	0.0:0.1384:0.0:0.8616	.	577;604;553;554;553	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	S	553;554;553;554;553;577;604;553	ENSP00000378866:T553S;ENSP00000390680:T554S;ENSP00000449332:T553S;ENSP00000394612:T554S;ENSP00000447927:T553S;ENSP00000327988:T577S;ENSP00000416341:T604S	ENSP00000327988:T577S	T	-	1	0	NELL2	43287222	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.594000	0.61041	1.105000	0.41606	0.533000	0.62120	ACG	NELL2	-	NULL		0.403	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	T	NM_006159		45000955	-1	no_errors	ENST00000437801	ensembl	human	known	70_37	missense	SNP	1.000	A
NF1	4763	genome.wustl.edu	37	17	29556485	29556485	+	Splice_Site	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:29556485T>G	ENST00000358273.4	+	21	3233		c.e21+2		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAGGACAGGTAAAGTGTTCT	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											73.0	75.0	75.0					17																	29556485		2199	4297	6496	SO:0001630	splice_region_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2850+2T>G	17.37:g.29556485T>G			O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	-	e21+2	ENST00000358273.4	37	c.2850+2	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808000	0.70797	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5701	0.76326	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26580611	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.665000	0.83852	2.096000	0.63516	0.374000	0.22700	.	NF1	-	-		0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	T	NM_000267	Intron	29556485	+1	no_errors	ENST00000358273	ensembl	human	known	70_37	splice_site	SNP	1.000	G
NF1	4763	genome.wustl.edu	37	17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	17	Whole gene deletion(8)|Substitution - Nonsense(6)|Unknown(3)	soft_tissue(10)|autonomic_ganglia(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|central_nervous_system(1)|lung(1)	GRCh37	CD000998|CM000818	NF1	D|M							159.0	145.0	150.0					17																	29677227		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7348C>T	17.37:g.29677227C>T	ENSP00000351015:p.Arg2450*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.R2450*	ENST00000358273.4	37	c.7348	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276767	0.80580	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.382	0.66916	0.1478:0.8522:0.0:0.0	.	.	.	.	X	2450;2429;2095;243;163	.	ENSP00000348498:R2429X	R	+	1	2	NF1	26701353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.331000	0.43894	2.626000	0.88956	0.563000	0.77884	CGA	NF1	-	superfamily_ARM-type_fold		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29677227	+1	no_errors	ENST00000358273	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NFASC	23114	genome.wustl.edu	37	1	204937953	204937953	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:204937953G>T	ENST00000401399.1	+	9	1045	c.846G>T	c.(844-846)aaG>aaT	p.K282N	NFASC_ENST00000513543.1_Missense_Mutation_p.K293N|NFASC_ENST00000403080.1_Missense_Mutation_p.K282N|NFASC_ENST00000360049.4_Missense_Mutation_p.K293N|NFASC_ENST00000367170.4_Missense_Mutation_p.K282N|NFASC_ENST00000338586.6_Missense_Mutation_p.K282N|NFASC_ENST00000367171.4_Missense_Mutation_p.K282N|NFASC_ENST00000338515.6_Missense_Mutation_p.K282N|NFASC_ENST00000539706.1_Missense_Mutation_p.K293N|NFASC_ENST00000339876.6_Missense_Mutation_p.K282N|NFASC_ENST00000404907.1_Missense_Mutation_p.K293N|NFASC_ENST00000404076.1_Missense_Mutation_p.K276N|NFASC_ENST00000367169.4_Missense_Mutation_p.K282N|NFASC_ENST00000367172.4_Missense_Mutation_p.K282N			O94856	NFASC_HUMAN	neurofascin	282	Ig-like C2-type 3.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATGGTACAAGAAAGGTGGGG	0.493																																																	0													70.0	64.0	66.0					1																	204937953		2203	4300	6503	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.846G>T	1.37:g.204937953G>T	ENSP00000385637:p.Lys282Asn		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K282N	ENST00000401399.1	37	c.846	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.434751|4.434751	0.83885|0.83885	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.81247|.	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;2.18;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47|.	5.5|5.5	4.59|4.59	0.56863|0.56863	.|.	0.000000|.	0.56097|.	D|.	0.000027|.	T|T	0.80454|0.80454	0.4626|0.4626	M|M	0.89785|0.89785	3.06|3.06	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.91635|.	0.999;0.998;0.999;0.996;0.985;0.998;0.991|.	D|D	0.84357|0.84357	0.0536|0.0536	10|5	0.87932|.	D|.	0|.	.|.	14.1338|14.1338	0.65273|0.65273	0.073:0.0:0.927:0.0|0.073:0.0:0.927:0.0	.|.	293;293;378;282;282;293;282|.	O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2|.	.;.;.;.;.;.;.|.	N|I	282;282;282;282;282;282;293;293;293;282;282;282;276;282;293;293;269|252	ENSP00000356140:K282N;ENSP00000356139:K282N;ENSP00000356138:K282N;ENSP00000342128:K282N;ENSP00000344786:K282N;ENSP00000343509:K282N;ENSP00000438614:K293N;ENSP00000353154:K293N;ENSP00000356137:K282N;ENSP00000412161:K282N;ENSP00000384875:K282N;ENSP00000385676:K276N;ENSP00000385637:K282N;ENSP00000384061:K293N;ENSP00000425908:K293N;ENSP00000415031:K269N|.	ENSP00000295776:K293N|.	K|R	+|+	3|2	2|0	NFASC|NFASC	203204576|203204576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.641000|4.641000	0.61375|0.61375	1.456000|1.456000	0.47831|0.47831	0.650000|0.650000	0.86243|0.86243	AAG|AGA	NFASC	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.493	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	G	NM_001005388		204937953	+1	no_errors	ENST00000367172	ensembl	human	known	70_37	missense	SNP	1.000	T
NFASC	23114	genome.wustl.edu	37	1	204985648	204985648	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:204985648C>A	ENST00000401399.1	+	29	3903	c.3704C>A	c.(3703-3705)gCt>gAt	p.A1235D	NFASC_ENST00000513543.1_Missense_Mutation_p.A1164D|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_Missense_Mutation_p.A1164D|NFASC_ENST00000367170.4_Missense_Mutation_p.A1263D|NFASC_ENST00000338586.6_Missense_Mutation_p.A1219D|NFASC_ENST00000367171.4_Missense_Mutation_p.A1327D|NFASC_ENST00000338515.6_Missense_Mutation_p.A1252D|NFASC_ENST00000539706.1_Missense_Mutation_p.A1169D|NFASC_ENST00000339876.6_Missense_Mutation_p.A1235D|NFASC_ENST00000404907.1_Missense_Mutation_p.A1169D|NFASC_ENST00000404076.1_Missense_Mutation_p.A1152D|NFASC_ENST00000367169.4_Missense_Mutation_p.A1066D|NFASC_ENST00000367172.4_Missense_Mutation_p.A1342D			O94856	NFASC_HUMAN	neurofascin	1342					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCTGTCAATGCTATCTACTCT	0.552																																																	0													135.0	119.0	124.0					1																	204985648		2203	4300	6503	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3704C>A	1.37:g.204985648C>A	ENSP00000385637:p.Ala1235Asp		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A1342D	ENST00000401399.1	37	c.4025	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.580316|4.580316	0.86645|0.86645	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000447819|ENST00000367173;ENST00000425360	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.80123|.	-0.49;-0.52;-0.48;-0.4;-0.55;-0.4;-0.25;-0.24;-0.33;-0.35;-0.55;-0.25;-0.24;-0.24;-1.34|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.50627|.	D|.	0.000112|.	T|T	0.64271|0.64271	0.2583|0.2583	L|L	0.59436|0.59436	1.845|1.845	0.32237|0.32237	N|N	0.573141|0.573141	P;D;D;D;D;P;D|.	0.76494|.	0.578;0.999;0.998;0.997;0.997;0.703;0.995|.	B;D;D;D;D;B;D|.	0.80764|.	0.1;0.994;0.974;0.975;0.974;0.319;0.948|.	T|T	0.68447|0.68447	-0.5406|-0.5406	10|5	0.87932|.	D|.	0|.	.|.	18.6493|18.6493	0.91425|0.91425	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1342;1184;1169;1219;1061;1235;1164|.	O94856;O94856-11;O94856-8;F8W8X7;O94856-4;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.;.|.	D|I	1342;1327;1263;1252;1235;1219;1184;1169;1164;1066;1152;1235;1169;1164;1160;213|1036;293	ENSP00000356140:A1342D;ENSP00000356139:A1327D;ENSP00000356138:A1263D;ENSP00000342128:A1252D;ENSP00000344786:A1235D;ENSP00000343509:A1219D;ENSP00000438614:A1169D;ENSP00000353154:A1164D;ENSP00000356137:A1066D;ENSP00000385676:A1152D;ENSP00000385637:A1235D;ENSP00000384061:A1169D;ENSP00000425908:A1164D;ENSP00000415031:A1160D;ENSP00000416891:A213D|.	ENSP00000295776:A1184D|.	A|L	+|+	2|1	0|2	NFASC|NFASC	203252271|203252271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.895000|5.895000	0.69814|0.69814	2.484000|2.484000	0.83849|0.83849	0.563000|0.563000	0.77884|0.77884	GCT|CTA	NFASC	-	NULL		0.552	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	C	NM_001005388		204985648	+1	no_errors	ENST00000367172	ensembl	human	known	70_37	missense	SNP	1.000	A
NFASC	23114	genome.wustl.edu	37	1	204987179	204987179	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:204987179T>G	ENST00000401399.1	+	0	5434				NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_3'UTR|NFASC_ENST00000367170.4_3'UTR|NFASC_ENST00000338586.6_3'UTR|NFASC_ENST00000367171.4_3'UTR|NFASC_ENST00000338515.6_3'UTR|NFASC_ENST00000539706.1_3'UTR|NFASC_ENST00000339876.6_3'UTR|NFASC_ENST00000404907.1_3'UTR|NFASC_ENST00000404076.1_3'UTR|NFASC_ENST00000367169.4_3'UTR|NFASC_ENST00000367172.4_3'UTR			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATGGAGACACTCGCAGACCTG	0.542																																																	0																																										SO:0001624	3_prime_UTR_variant	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.*1512T>G	1.37:g.204987179T>G			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	RNA	SNP	-	NULL	ENST00000401399.1	37	NULL	CCDS53460.1	1																																																																																			NFASC	-	-		0.542	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	T	NM_001005388		204987179	+1	no_errors	ENST00000495396	ensembl	human	known	70_37	rna	SNP	0.000	G
NFASC	23114	genome.wustl.edu	37	1	204991893	204991893	+	3'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:204991893A>C	ENST00000401399.1	+	0	10148				NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_3'UTR|NFASC_ENST00000367170.4_3'UTR|NFASC_ENST00000338586.6_3'UTR|NFASC_ENST00000367171.4_3'UTR|NFASC_ENST00000338515.6_3'UTR|NFASC_ENST00000539706.1_3'UTR|NFASC_ENST00000339876.6_3'UTR|NFASC_ENST00000367169.4_3'UTR|NFASC_ENST00000367172.4_3'UTR			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTGTAAAAAAACTGATTTCT	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.*6226A>C	1.37:g.204991893A>C			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	RNA	SNP	-	NULL	ENST00000401399.1	37	NULL	CCDS53460.1	1																																																																																			NFASC	-	-		0.338	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	A	NM_001005388		204991893	+1	no_errors	ENST00000495396	ensembl	human	known	70_37	rna	SNP	0.999	C
NFATC2	4773	genome.wustl.edu	37	20	50092153	50092153	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:50092153G>T	ENST00000396009.3	-	4	1596	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	NFATC2_ENST00000609507.1_Missense_Mutation_p.F240L|NFATC2_ENST00000414705.1_Missense_Mutation_p.F439L|NFATC2_ENST00000609943.1_Missense_Mutation_p.F439L|NFATC2_ENST00000371564.3_Missense_Mutation_p.F459L|NFATC2_ENST00000610033.1_Missense_Mutation_p.F240L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	459	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTGTCCCAATGAAGATCTGAA	0.517																																																	0													115.0	105.0	109.0					20																	50092153		2203	4300	6503	SO:0001583	missense	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1377C>A	20.37:g.50092153G>T	ENSP00000379330:p.Phe459Leu		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.F459L	ENST00000396009.3	37	c.1377	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822924	0.90873	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.47869	0.83;0.83;0.83	5.26	5.26	0.73747	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.80764	0.992;0.994;0.992;0.992	T	0.77349	-0.2621	10	0.87932	D	0	-23.4119	18.8809	0.92356	0.0:0.0:1.0:0.0	.	439;439;459;459	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	459;459;240;439	ENSP00000360619:F459L;ENSP00000379330:F459L;ENSP00000396471:F439L	ENSP00000360619:F459L	F	-	3	2	NFATC2	49525560	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.640000	0.67875	2.448000	0.82819	0.650000	0.86243	TTC	NFATC2	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.517	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	G	NM_012340		50092153	-1	no_errors	ENST00000396009	ensembl	human	known	70_37	missense	SNP	1.000	T
NHLRC3	387921	genome.wustl.edu	37	13	39613372	39613372	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:39613372A>C	ENST00000379600.3	+	2	506	c.184A>C	c.(184-186)Aca>Cca	p.T62P	PROSER1_ENST00000350125.3_5'Flank|PROSER1_ENST00000352251.3_5'Flank|NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Missense_Mutation_p.T62P	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	62						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TTTTACCGGAACAACATTTTG	0.378																																																	0													87.0	89.0	88.0					13																	39613372		2203	4300	6503	SO:0001583	missense	387921				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.184A>C	13.37:g.39613372A>C	ENSP00000368920:p.Thr62Pro		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	p.T62P	ENST00000379600.3	37	c.184	CCDS31961.1	13	.	.	.	.	.	.	.	.	.	.	A	9.553	1.116407	0.20795	.	.	ENSG00000188811	ENST00000379600;ENST00000379599;ENST00000537150	T;D	0.90133	0.89;-2.62	5.29	-7.74	0.01241	Six-bladed beta-propeller, TolB-like (1);	1.164300	0.05950	N	0.638690	T	0.78110	0.4232	N	0.11201	0.11	0.09310	N	1	B;B;B;B	0.26258	0.016;0.001;0.026;0.145	B;B;B;B	0.27887	0.009;0.0;0.039;0.084	T	0.65606	-0.6127	9	.	.	.	-1.8787	11.3828	0.49768	0.2149:0.1553:0.6298:0.0	.	62;62;62;62	B4DTL0;Q5JS37;B4DRC8;F5GZB5	.;NHLC3_HUMAN;.;.	P	62	ENSP00000368920:T62P;ENSP00000368919:T62P	.	T	+	1	0	NHLRC3	38511372	0.000000	0.05858	0.499000	0.27577	0.637000	0.38172	-0.268000	0.08607	-1.258000	0.02471	-0.609000	0.04063	ACA	NHLRC3	-	NULL		0.378	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	HGNC	protein_coding	OTTHUMT00000044616.2	A	NM_001012754		39613372	+1	no_errors	ENST00000379600	ensembl	human	known	70_37	missense	SNP	0.002	C
NID2	22795	genome.wustl.edu	37	14	52520402	52520402	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:52520402C>A	ENST00000216286.5	-	5	1323	c.1324G>T	c.(1324-1326)Gaa>Taa	p.E442*	NID2_ENST00000541773.1_Nonsense_Mutation_p.E389*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	442					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACAATTTCTTCTTCAGGATGA	0.532																																																	0													97.0	97.0	97.0					14																	52520402		2203	4300	6503	SO:0001587	stop_gained	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1324G>T	14.37:g.52520402C>A	ENSP00000216286:p.Glu442*		A8K6I7|B4DU19|O43710	Nonsense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.E442*	ENST00000216286.5	37	c.1324	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539528	0.85917	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	.	.	.	5.1	2.28	0.28536	.	1.192640	0.05507	N	0.559471	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	5.831	0.18581	0.0:0.6257:0.1381:0.2362	.	.	.	.	X	442;389;444	.	ENSP00000216286:E442X	E	-	1	0	NID2	51590152	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-0.008000	0.12788	0.183000	0.20059	0.655000	0.94253	GAA	NID2	-	NULL		0.532	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	C			52520402	-1	no_errors	ENST00000216286	ensembl	human	known	70_37	nonsense	SNP	0.046	A
NIPAL1	152519	genome.wustl.edu	37	4	48038114	48038114	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:48038114T>G	ENST00000295461.5	+	6	1224	c.1158T>G	c.(1156-1158)gtT>gtG	p.V386V		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	386						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAATTATGTTTTACTAGAGA	0.368																																																	0													87.0	84.0	85.0					4																	48038114		2203	4300	6503	SO:0001819	synonymous_variant	152519			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.1158T>G	4.37:g.48038114T>G			B3KTB0|Q68DA9	Silent	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.V386	ENST00000295461.5	37	c.1158	CCDS3479.1	4																																																																																			NIPAL1	-	NULL		0.368	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	T	NM_207330		48038114	+1	no_errors	ENST00000295461	ensembl	human	known	70_37	silent	SNP	0.161	G
NIPBL	25836	genome.wustl.edu	37	5	37044825	37044825	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:37044825T>G	ENST00000282516.8	+	36	6836	c.6337T>G	c.(6337-6339)Tac>Gac	p.Y2113D	NIPBL_ENST00000448238.2_Missense_Mutation_p.Y2113D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2113					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCAATAGATACTATGGTAA	0.368																																																	0													36.0	38.0	37.0					5																	37044825		2202	4299	6501	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6337T>G	5.37:g.37044825T>G	ENSP00000282516:p.Tyr2113Asp		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Y2113D	ENST00000282516.8	37	c.6337	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096893	0.76870	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.91843	-2.92;-2.92	5.8	5.8	0.92144	Armadillo-type fold (1);	0.064498	0.64402	D	0.000005	D	0.95252	0.8460	M	0.71036	2.16	0.51012	D	0.999901	D;D	0.89917	0.999;1.0	D;D	0.76575	0.972;0.988	D	0.95301	0.8403	10	0.59425	D	0.04	-4.5781	13.2549	0.60073	0.0:0.0:0.1319:0.8681	.	2113;2113	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	D	2113	ENSP00000282516:Y2113D;ENSP00000406266:Y2113D	ENSP00000282516:Y2113D	Y	+	1	0	NIPBL	37080582	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.973000	0.70456	2.227000	0.72691	0.524000	0.50904	TAC	NIPBL	-	superfamily_ARM-type_fold		0.368	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	T	NM_015384		37044825	+1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	G
NKAPL	222698	genome.wustl.edu	37	6	28228147	28228147	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:28228147C>A	ENST00000343684.3	+	1	1050	c.998C>A	c.(997-999)tCt>tAt	p.S333Y	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	333										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAGATCGGTTCTTTTGAATGC	0.483																																																	0													187.0	183.0	184.0					6																	28228147		2203	4300	6503	SO:0001583	missense	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.998C>A	6.37:g.28228147C>A	ENSP00000345716:p.Ser333Tyr		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.S333Y	ENST00000343684.3	37	c.998	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386671	0.61956	.	.	ENSG00000189134	ENST00000343684	T	0.15952	2.38	4.74	4.74	0.60224	.	0.434208	0.24996	N	0.033941	T	0.29061	0.0722	L	0.53249	1.67	0.43808	D	0.996368	D	0.71674	0.998	D	0.79784	0.993	T	0.01452	-1.1351	10	0.87932	D	0	-3.3071	15.6397	0.76989	0.0:1.0:0.0:0.0	.	333	Q5M9Q1	NKAPL_HUMAN	Y	333	ENSP00000345716:S333Y	ENSP00000345716:S333Y	S	+	2	0	NKAPL	28336126	0.968000	0.33430	0.970000	0.41538	0.766000	0.43426	6.004000	0.70709	2.635000	0.89317	0.655000	0.94253	TCT	NKAPL	-	pfam_DUF926		0.483	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	C			28228147	+1	no_errors	ENST00000343684	ensembl	human	known	70_37	missense	SNP	0.949	A
NKX2-1	7080	genome.wustl.edu	37	14	36988394	36988394	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:36988394C>T	ENST00000518149.1	-	2	774	c.169G>A	c.(169-171)Gcc>Acc	p.A57T	NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.A57T|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.A87T|NKX2-1_ENST00000522719.2_Missense_Mutation_p.A57T			P43699	NKX21_HUMAN	NK2 homeobox 1	57					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGCCCCACGGCGTGCTGCTGC	0.736			A		NSCLC																																			Dom	yes		14	14q13	7080	NK2 homeobox 1		E	0													6.0	8.0	7.0					14																	36988394		2008	4011	6019	SO:0001583	missense	7080				CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.169G>A	14.37:g.36988394C>T	ENSP00000428341:p.Ala57Thr		D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.A87T	ENST00000518149.1	37	c.259	CCDS9659.1	14	.	.	.	.	.	.	.	.	.	.	C	10.77	1.445292	0.25987	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	4.59	3.66	0.41972	.	0.411750	0.26096	N	0.026380	T	0.59824	0.2222	L	0.43152	1.355	0.32675	N	0.516249	P;B	0.37914	0.611;0.329	B;B	0.28465	0.09;0.028	T	0.65776	-0.6086	10	0.15499	T	0.54	.	13.3794	0.60759	0.0:0.7617:0.2383:0.0	.	87;57	P43699-3;P43699	.;NKX21_HUMAN	T	87;57;57;57	ENSP00000346879:A87T;ENSP00000429607:A57T;ENSP00000428341:A57T;ENSP00000429519:A57T	ENSP00000346879:A87T	A	-	1	0	NKX2-1	36058145	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.161000	0.58170	2.381000	0.81170	0.462000	0.41574	GCC	NKX2-1	-	NULL		0.736	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NKX2-1	HGNC	protein_coding	OTTHUMT00000376225.2	C	NM_003317		36988394	-1	no_errors	ENST00000354822	ensembl	human	known	70_37	missense	SNP	1.000	T
NLRC4	58484	genome.wustl.edu	37	2	32463229	32463229	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:32463229G>T	ENST00000404025.2	-	7	2981	c.2493C>A	c.(2491-2493)tgC>tgA	p.C831*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.C831*|NLRC4_ENST00000342905.6_Nonsense_Mutation_p.C166*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.C831*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	831					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGCAGACAAGCAGCAGGAGA	0.398																																																	0													166.0	158.0	161.0					2																	32463229		2203	4300	6503	SO:0001587	stop_gained	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2493C>A	2.37:g.32463229G>T	ENSP00000385090:p.Cys831*		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.C831*	ENST00000404025.2	37	c.2493	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.481195	0.98829	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	.	.	.	4.52	3.63	0.41609	.	0.000000	0.44097	D	0.000488	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-14.3828	7.8013	0.29176	0.1169:0.0:0.8831:0.0	.	.	.	.	X	831;831;166;831	.	ENSP00000339666:C166X	C	-	3	2	NLRC4	32316733	0.997000	0.39634	0.990000	0.47175	0.988000	0.76386	0.521000	0.22893	1.232000	0.43678	0.655000	0.94253	TGC	NLRC4	-	NULL		0.398	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	G	NM_021209		32463229	-1	no_errors	ENST00000360906	ensembl	human	known	70_37	nonsense	SNP	0.989	T
NLRC5	84166	genome.wustl.edu	37	16	57063770	57063770	+	Splice_Site	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:57063770T>G	ENST00000262510.6	+	9	2552		c.e9+2		NLRC5_ENST00000308149.7_Splice_Site|NLRC5_ENST00000436936.1_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAAGCTTGAGTAAGTGATCTT	0.577																																																	0													92.0	75.0	81.0					16																	57063770		2198	4300	6498	SO:0001630	splice_region_variant	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2327+2T>G	16.37:g.57063770T>G			B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Splice_Site	SNP	-	e7+2	ENST00000262510.6	37	c.2327+2	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554787	0.65425	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538805;ENST00000538110	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.326	0.49448	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRC5	55621271	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.863000	0.56016	1.930000	0.55929	0.460000	0.39030	.	NLRC5	-	-		0.577	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	T	NM_032206	Intron	57063770	+1	no_errors	ENST00000262510	ensembl	human	known	70_37	splice_site	SNP	1.000	G
NLRP10	338322	genome.wustl.edu	37	11	7982618	7982618	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:7982618T>C	ENST00000328600.2	-	2	702	c.541A>G	c.(541-543)Act>Gct	p.T181A		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	181	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGGCGAGAGTTGTCTTTCCA	0.527																																																	0													58.0	60.0	59.0					11																	7982618		2201	4296	6497	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.541A>G	11.37:g.7982618T>C	ENSP00000327763:p.Thr181Ala		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T181A	ENST00000328600.2	37	c.541	CCDS7784.1	11	.	.	.	.	.	.	.	.	.	.	T	11.60	1.685907	0.29962	.	.	ENSG00000182261	ENST00000328600	D	0.84370	-1.84	5.25	5.25	0.73442	NACHT nucleoside triphosphatase (1);	0.000000	0.42053	D	0.000779	D	0.88070	0.6338	L	0.47190	1.495	0.24281	N	0.995206	D	0.64830	0.994	D	0.67231	0.95	T	0.80279	-0.1449	10	0.34782	T	0.22	.	11.8522	0.52417	0.0:0.0:0.0:1.0	.	181	Q86W26	NAL10_HUMAN	A	181	ENSP00000327763:T181A	ENSP00000327763:T181A	T	-	1	0	NLRP10	7939194	0.250000	0.23951	0.908000	0.35775	0.004000	0.04260	0.902000	0.28459	2.130000	0.65690	0.533000	0.62120	ACT	NLRP10	-	pfscan_NACHT_NTPase		0.527	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	HGNC	protein_coding	OTTHUMT00000385705.1	T	NM_176821		7982618	-1	no_errors	ENST00000328600	ensembl	human	known	70_37	missense	SNP	0.831	C
NLRP4	147945	genome.wustl.edu	37	19	56382215	56382215	+	Missense_Mutation	SNP	G	G	A	rs569279993		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56382215G>A	ENST00000301295.6	+	7	2799	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	NLRP4_ENST00000587891.1_Missense_Mutation_p.E718K|NLRP4_ENST00000346986.5_Missense_Mutation_p.E737K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	793					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E793K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCACCTCAGCGAGCAGTGCTG	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19754	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											141.0	122.0	128.0					19																	56382215		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2377G>A	19.37:g.56382215G>A	ENSP00000301295:p.Glu793Lys		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E793K	ENST00000301295.6	37	c.2377	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033330	0.19590	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.54479	0.57;2.09	3.94	-1.07	0.09968	.	.	.	.	.	T	0.36054	0.0953	L	0.39467	1.215	0.09310	N	1	B;B;B	0.31077	0.147;0.307;0.181	B;B;B	0.32022	0.038;0.139;0.045	T	0.23476	-1.0187	9	0.25106	T	0.35	.	3.7243	0.08469	0.3237:0.1894:0.4869:0.0	.	737;718;793	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	K	793;737	ENSP00000301295:E793K;ENSP00000344787:E737K	ENSP00000301295:E793K	E	+	1	0	NLRP4	61074027	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.055000	0.11807	0.107000	0.17824	-0.145000	0.13849	GAG	NLRP4	-	NULL		0.493	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	G	NM_134444		56382215	+1	no_errors	ENST00000301295	ensembl	human	known	70_37	missense	SNP	0.000	A
NLRP4	147945	genome.wustl.edu	37	19	56382313	56382313	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56382313A>C	ENST00000301295.6	+	7	2897	c.2475A>C	c.(2473-2475)aaA>aaC	p.K825N	NLRP4_ENST00000587891.1_Missense_Mutation_p.K750N|NLRP4_ENST00000346986.5_Missense_Mutation_p.K769N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	825					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGGACTGAAAACTCTCTGCG	0.502																																																	0													134.0	118.0	123.0					19																	56382313		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2475A>C	19.37:g.56382313A>C	ENSP00000301295:p.Lys825Asn		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K825N	ENST00000301295.6	37	c.2475	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	A	10.43	1.346807	0.24426	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.54479	0.57;2.57	3.9	-7.8	0.01214	.	.	.	.	.	T	0.42854	0.1221	M	0.76328	2.33	0.09310	N	1	B;B;B	0.33940	0.036;0.433;0.34	B;B;B	0.34824	0.02;0.119;0.19	T	0.18398	-1.0338	9	0.40728	T	0.16	.	2.9092	0.05731	0.1942:0.1202:0.4481:0.2376	.	769;750;825	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	N	825;769	ENSP00000301295:K825N;ENSP00000344787:K769N	ENSP00000301295:K825N	K	+	3	2	NLRP4	61074125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.686000	0.00834	-2.543000	0.00484	-0.256000	0.11100	AAA	NLRP4	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.502	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	A	NM_134444		56382313	+1	no_errors	ENST00000301295	ensembl	human	known	70_37	missense	SNP	0.000	C
NLRP9	338321	genome.wustl.edu	37	19	56220385	56220385	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56220385C>A	ENST00000332836.2	-	9	2896	c.2869G>T	c.(2869-2871)Gaa>Taa	p.E957*	CTD-2611O12.6_ENST00000600582.1_RNA|CTD-2611O12.7_ENST00000597680.1_RNA|CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	957						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTCTGAGTTTCTTCATCAAAG	0.383																																																	0													84.0	84.0	84.0					19																	56220385		2203	4300	6503	SO:0001587	stop_gained	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2869G>T	19.37:g.56220385C>A	ENSP00000331857:p.Glu957*		B2RN12|Q86W27	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E957*	ENST00000332836.2	37	c.2869	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691896	0.88735	.	.	ENSG00000185792	ENST00000332836	.	.	.	2.65	2.65	0.31530	.	.	.	.	.	.	.	.	.	.	.	0.50813	D	0.999893	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	8.9834	0.35979	0.0:1.0:0.0:0.0	.	.	.	.	X	957	.	ENSP00000331857:E957X	E	-	1	0	NLRP9	60912197	0.003000	0.15002	0.005000	0.12908	0.011000	0.07611	0.503000	0.22610	1.815000	0.52974	0.655000	0.94253	GAA	NLRP9	-	NULL		0.383	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	C	NM_176820		56220385	-1	no_errors	ENST00000332836	ensembl	human	known	70_37	nonsense	SNP	0.005	A
NLRP9	338321	genome.wustl.edu	37	19	56235489	56235489	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56235489T>C	ENST00000332836.2	-	4	2043	c.2016A>G	c.(2014-2016)ggA>ggG	p.G672G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	672						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGAATCATGTCCAAAGTACA	0.413																																																	0													54.0	50.0	52.0					19																	56235489		2203	4300	6503	SO:0001819	synonymous_variant	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2016A>G	19.37:g.56235489T>C			B2RN12|Q86W27	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.G672	ENST00000332836.2	37	c.2016	CCDS12934.1	19																																																																																			NLRP9	-	NULL		0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	T	NM_176820		56235489	-1	no_errors	ENST00000332836	ensembl	human	known	70_37	silent	SNP	0.000	C
NLRP5	126206	genome.wustl.edu	37	19	56538691	56538691	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56538691C>T	ENST00000390649.3	+	7	1092	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	364	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.F364F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTGACGGTTTCGATGACCTGG	0.552																																																	1	Substitution - coding silent(1)	large_intestine(1)											46.0	46.0	46.0					19																	56538691		2076	4215	6291	SO:0001819	synonymous_variant	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1092C>T	19.37:g.56538691C>T			A8MTY4|Q86W29	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F364	ENST00000390649.3	37	c.1092	CCDS12938.1	19																																																																																			NLRP5	-	pfscan_NACHT_NTPase		0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	C	NM_153447		56538691	+1	no_errors	ENST00000390649	ensembl	human	known	70_37	silent	SNP	0.002	T
NME8	51314	genome.wustl.edu	37	7	37936561	37936561	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:37936561A>C	ENST00000199447.4	+	17	2006	c.1634A>C	c.(1633-1635)aAa>aCa	p.K545T	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.K545T	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	545	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GAAGAAGCAAAATTACTTTCC	0.448																																																	0													103.0	99.0	100.0					7																	37936561		2203	4300	6503	SO:0001583	missense	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1634A>C	7.37:g.37936561A>C	ENSP00000199447:p.Lys545Thr		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.K545T	ENST00000199447.4	37	c.1634	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	A	11.74	1.727967	0.30593	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.46819	0.86;0.86	5.54	-4.69	0.03299	.	0.851296	0.10221	N	0.700866	T	0.58793	0.2147	M	0.92555	3.32	0.22330	N	0.999199	P	0.49253	0.921	P	0.48524	0.58	T	0.59231	-0.7493	10	0.59425	D	0.04	-9.3241	8.7661	0.34704	0.4223:0.122:0.4557:0.0	.	545	Q8N427	TXND3_HUMAN	T	545	ENSP00000199447:K545T;ENSP00000397063:K545T	ENSP00000199447:K545T	K	+	2	0	TXNDC3	37903086	0.248000	0.23930	0.006000	0.13384	0.162000	0.22319	0.798000	0.27014	-0.736000	0.04831	-0.256000	0.11100	AAA	NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase		0.448	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	A	NM_016616		37936561	+1	no_errors	ENST00000199447	ensembl	human	known	70_37	missense	SNP	0.060	C
NOL6	65083	genome.wustl.edu	37	9	33469506	33469506	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:33469506G>A	ENST00000379471.2	-	5	805	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.R180W			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	240					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCACGCGGCCGCAGCAACAGT	0.602																																																	0													90.0	88.0	89.0					9																	33469506		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.718C>T	9.37:g.33469506G>A	ENSP00000368784:p.Arg240Trp		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.R240W	ENST00000379471.2	37	c.718		9	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291831	0.40594	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.59	2.62	0.31277	.	0.182926	0.44483	D	0.000457	T	0.51244	0.1663	L	0.33245	0.995	0.37912	D	0.93141	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;P;D	0.68353	0.957;0.928;0.928;0.888;0.957	T	0.50767	-0.8789	10	0.36615	T	0.2	.	9.3994	0.38424	0.0673:0.0:0.5577:0.375	.	180;240;240;240;240	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	W	240;240;240;240;180	ENSP00000313978:R240W;ENSP00000297990:R240W;ENSP00000368784:R240W;ENSP00000395915:R180W	ENSP00000297990:R240W	R	-	1	2	NOL6	33459506	0.977000	0.34250	0.999000	0.59377	0.593000	0.36681	0.825000	0.27393	0.673000	0.31224	-0.314000	0.08810	CGG	NOL6	-	pfam_Nrap		0.602	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	G	NM_022917		33469506	-1	no_errors	ENST00000297990	ensembl	human	known	70_37	missense	SNP	0.998	A
NOLC1	9221	genome.wustl.edu	37	10	103920264	103920264	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:103920264G>T	ENST00000605788.1	+	10	1390	c.1155G>T	c.(1153-1155)aaG>aaT	p.K385N	NOLC1_ENST00000488254.2_Missense_Mutation_p.K386N|NOLC1_ENST00000405356.1_Missense_Mutation_p.K395N|NOLC1_ENST00000603742.1_Missense_Mutation_p.K104N	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	385	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GTACCACCAAGAATTCTTCAA	0.527																																																	0													61.0	64.0	63.0					10																	103920264		2203	4300	6503	SO:0001583	missense	9221			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1155G>T	10.37:g.103920264G>T	ENSP00000474710:p.Lys385Asn		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	pfam_SRP40_C,pfscan_LisH_dimerisation	p.K395N	ENST00000605788.1	37	c.1185	CCDS7530.1	10	.	.	.	.	.	.	.	.	.	.	G	6.573	0.473964	0.12521	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.46819	0.86	4.3	0.314	0.15847	.	0.164056	0.42964	D	0.000627	T	0.57844	0.2081	M	0.77103	2.36	0.36277	D	0.855567	D;D;D	0.67145	0.996;0.996;0.993	D;D;P	0.64237	0.923;0.923;0.84	T	0.59359	-0.7469	10	0.36615	T	0.2	-7.4344	5.0709	0.14606	0.3321:0.0:0.5284:0.1394	.	386;395;385	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	N	395;385	ENSP00000385410:K395N	ENSP00000359024:K385N	K	+	3	2	NOLC1	103910254	0.971000	0.33674	0.201000	0.23476	0.032000	0.12392	0.516000	0.22817	0.063000	0.16370	-0.136000	0.14681	AAG	NOLC1	-	NULL		0.527	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	HGNC	protein_coding	OTTHUMT00000050012.2	G	NM_004741		103920264	+1	no_errors	ENST00000405356	ensembl	human	known	70_37	missense	SNP	0.627	T
NONO	4841	genome.wustl.edu	37	X	70521007	70521007	+	3'UTR	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:70521007T>A	ENST00000276079.8	+	0	2702				NONO_ENST00000490044.1_3'UTR|ITGB1BP2_ENST00000538820.1_5'Flank|NONO_ENST00000535149.1_3'UTR|NONO_ENST00000373841.1_3'UTR|ITGB1BP2_ENST00000373829.3_5'Flank	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding						circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AAATACATTTTAAGCCTTTTA	0.343			T	TFE3	papillary renal cancer																																			Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	0																																										SO:0001624	3_prime_UTR_variant	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.*1081T>A	X.37:g.70521007T>A			B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	RNA	SNP	-	NULL	ENST00000276079.8	37	NULL	CCDS14410.1	X																																																																																			NONO	-	-		0.343	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	HGNC	protein_coding	OTTHUMT00000057138.1	T	NM_007363		70521007	+1	no_errors	ENST00000490044	ensembl	human	known	70_37	rna	SNP	1.000	A
NOP58	51602	genome.wustl.edu	37	2	203160408	203160408	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:203160408A>C	ENST00000264279.5	+	10	1145	c.919A>C	c.(919-921)Aat>Cat	p.N307H	SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	307	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TTCTCTTTTAAATTTGGCCAA	0.388																																																	0													102.0	113.0	110.0					2																	203160408		2203	4300	6503	SO:0001583	missense	51602				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.919A>C	2.37:g.203160408A>C	ENSP00000264279:p.Asn307His		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.N307H	ENST00000264279.5	37	c.919	CCDS2353.1	2	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660980	0.88154	.	.	ENSG00000055044	ENST00000264279	T	0.78924	-1.22	6.17	6.17	0.99709	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.088841	0.85682	D	0.000000	D	0.93051	0.7788	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95525	0.8598	10	0.87932	D	0	-12.8649	16.8222	0.85835	1.0:0.0:0.0:0.0	.	307	Q9Y2X3	NOP58_HUMAN	H	307	ENSP00000264279:N307H	ENSP00000264279:N307H	N	+	1	0	NOP58	202868653	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.953000	0.93041	2.371000	0.80710	0.533000	0.62120	AAT	NOP58	-	pfam_SnoRNA-bd_dom		0.388	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	A	NM_015934		203160408	+1	no_errors	ENST00000264279	ensembl	human	known	70_37	missense	SNP	1.000	C
NOS1	4842	genome.wustl.edu	37	12	117710211	117710211	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:117710211G>A	ENST00000338101.4	-	9	1822	c.1818C>T	c.(1816-1818)aaC>aaT	p.N606N	NOS1_ENST00000317775.6_Silent_p.N606N|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGTAGCGGGAGTTGTCACAGT	0.592																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													79.0	87.0	84.0					12																	117710211		2193	4296	6489	SO:0001819	synonymous_variant	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1818C>T	12.37:g.117710211G>A				Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.N606	ENST00000338101.4	37	c.1818	CCDS55890.1	12																																																																																			NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met		0.592	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	G			117710211	-1	no_errors	ENST00000317775	ensembl	human	known	70_37	silent	SNP	0.991	A
NOS3	4846	genome.wustl.edu	37	7	150698430	150698430	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:150698430G>A	ENST00000484524.1	+	10	1345	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	NOS3_ENST00000297494.3_Missense_Mutation_p.V449M|NOS3_ENST00000467517.1_Missense_Mutation_p.V449M|NOS3_ENST00000461406.1_Missense_Mutation_p.V243M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCTGGATCGTGCCCCCCAT	0.627																																																	0													61.0	59.0	60.0					7																	150698430		2203	4300	6503	SO:0001583	missense	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1345G>A	7.37:g.150698430G>A	ENSP00000420215:p.Val449Met		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.V449M	ENST00000484524.1	37	c.1345	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553575	0.86127	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.03	5.03	0.67393	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.52532	D	0.000066	T	0.69735	0.3144	M	0.93898	3.47	0.52501	D	0.999959	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999	T	0.79120	-0.1934	10	0.87932	D	0	-19.3493	15.8587	0.79005	0.0:0.0:1.0:0.0	.	449;449;449;243;449	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	449;243;449;449	ENSP00000297494:V449M;ENSP00000417143:V243M;ENSP00000420215:V449M;ENSP00000420551:V449M	ENSP00000297494:V449M	V	+	1	0	NOS3	150329363	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	7.959000	0.87885	2.325000	0.78763	0.561000	0.74099	GTG	NOS3	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met		0.627	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1	G	NM_000603		150698430	+1	no_errors	ENST00000297494	ensembl	human	known	70_37	missense	SNP	1.000	A
NOX1	27035	genome.wustl.edu	37	X	100105261	100105261	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100105261G>A	ENST00000372966.3	-	9	1217	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y	NOX1_ENST00000372960.4_Missense_Mutation_p.H301Y|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.H338Y	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	338	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTAAAAGGATGCCATTCCAGG	0.453																																																	0													66.0	61.0	62.0					X																	100105261		2203	4300	6503	SO:0001583	missense	27035			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1012C>T	X.37:g.100105261G>A	ENSP00000362057:p.His338Tyr		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.H338Y	ENST00000372966.3	37	c.1012	CCDS14474.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.52|16.52	3.147481|3.147481	0.57151|0.57151	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000427768|ENST00000372966;ENST00000217885;ENST00000372960;ENST00000372957	.|D;D;D	.|0.98792	.|-5.14;-5.14;-5.14	3.87|3.87	3.87|3.87	0.44632|0.44632	.|Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99518|0.99518	0.9828|0.9828	H|H	0.99143|0.99143	4.445|4.445	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.91635	.|0.996;0.997;0.999	D|D	0.97682|0.97682	1.0173|1.0173	5|10	.|0.87932	.|D	.|0	-9.5558|-9.5558	14.1697|14.1697	0.65500|0.65500	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|301;338;338	.|A6NGA6;Q9Y5S8-3;Q9Y5S8	.|.;.;NOX1_HUMAN	V|Y	22|338;338;301;27	.|ENSP00000362057:H338Y;ENSP00000217885:H338Y;ENSP00000362051:H301Y	.|ENSP00000217885:H338Y	A|H	-|-	2|1	0|0	NOX1|NOX1	99991917|99991917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.550000|0.550000	0.35303|0.35303	8.572000|8.572000	0.90756|0.90756	1.767000|1.767000	0.52121|0.52121	0.422000|0.422000	0.28245|0.28245	GCA|CAT	NOX1	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl		0.453	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX1	HGNC	protein_coding	OTTHUMT00000057495.1	G	NM_007052		100105261	-1	no_errors	ENST00000372966	ensembl	human	known	70_37	missense	SNP	1.000	A
NOX3	50508	genome.wustl.edu	37	6	155761194	155761194	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:155761194C>A	ENST00000159060.2	-	6	666	c.564G>T	c.(562-564)atG>atT	p.M188I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	188	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TTGACGAGGTCATGATCAAGA	0.453																																																	0													150.0	137.0	142.0					6																	155761194		2203	4300	6503	SO:0001583	missense	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.564G>T	6.37:g.155761194C>A	ENSP00000159060:p.Met188Ile		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.M188I	ENST00000159060.2	37	c.564	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	C	0.167	-1.075482	0.01903	.	.	ENSG00000074771	ENST00000159060	D	0.90385	-2.66	5.83	1.89	0.25635	Flavoprotein transmembrane component (1);	0.561272	0.19586	N	0.110726	T	0.49983	0.1589	N	0.02403	-0.565	0.36507	D	0.869388	B	0.02656	0.0	B	0.06405	0.002	T	0.43845	-0.9366	10	0.07325	T	0.83	-8.8245	4.1067	0.10040	0.1229:0.5217:0.2392:0.1161	.	188	Q9HBY0	NOX3_HUMAN	I	188	ENSP00000159060:M188I	ENSP00000159060:M188I	M	-	3	0	NOX3	155802886	0.998000	0.40836	0.999000	0.59377	0.286000	0.27126	0.580000	0.23803	0.749000	0.32854	0.650000	0.86243	ATG	NOX3	-	pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain		0.453	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	C			155761194	-1	no_errors	ENST00000159060	ensembl	human	known	70_37	missense	SNP	1.000	A
NPAP1	23742	genome.wustl.edu	37	15	24923533	24923533	+	Missense_Mutation	SNP	T	T	C	rs370596656		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:24923533T>C	ENST00000329468.2	+	1	2993	c.2519T>C	c.(2518-2520)tTt>tCt	p.F840S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	840					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGTCTACCTTTGTCTCCAGG	0.512																																																	0													114.0	104.0	107.0					15																	24923533		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2519T>C	15.37:g.24923533T>C	ENSP00000333735:p.Phe840Ser			Missense_Mutation	SNP	NULL	p.F840S	ENST00000329468.2	37	c.2519	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	1.752	-0.489036	0.04352	.	.	ENSG00000185823	ENST00000329468	T	0.06608	3.28	1.83	-3.67	0.04476	.	.	.	.	.	T	0.02267	0.0070	N	0.22421	0.69	0.09310	N	1	B	0.33528	0.416	B	0.22152	0.038	T	0.44559	-0.9320	9	0.07644	T	0.81	.	0.3715	0.00380	0.1954:0.2985:0.1955:0.3106	.	840	Q9NZP6	CO002_HUMAN	S	840	ENSP00000333735:F840S	ENSP00000333735:F840S	F	+	2	0	C15orf2	22474626	0.004000	0.15560	0.000000	0.03702	0.050000	0.14768	-0.192000	0.09587	-1.454000	0.01926	-0.526000	0.04340	TTT	NPAP1	-	NULL		0.512	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	T	NM_018958		24923533	+1	no_errors	ENST00000329468	ensembl	human	known	70_37	missense	SNP	0.000	C
NPAS3	64067	genome.wustl.edu	37	14	33836443	33836443	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:33836443T>G	ENST00000356141.4	+	4	437	c.437T>G	c.(436-438)tTt>tGt	p.F146C	NPAS3_ENST00000346562.2_Missense_Mutation_p.F114C|NPAS3_ENST00000548645.1_Missense_Mutation_p.F116C|NPAS3_ENST00000357798.5_Missense_Mutation_p.F133C|NPAS3_ENST00000547068.1_Missense_Mutation_p.F42C|NPAS3_ENST00000551008.1_Missense_Mutation_p.F44C|NPAS3_ENST00000341321.4_Missense_Mutation_p.F146C|NPAS3_ENST00000551492.1_Missense_Mutation_p.F151C			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	146					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATTGAAGTATTTGAAGCACAT	0.338																																																	0													68.0	66.0	67.0					14																	33836443		2203	4300	6503	SO:0001583	missense	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.437T>G	14.37:g.33836443T>G	ENSP00000348460:p.Phe146Cys		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.F146C	ENST00000356141.4	37	c.437	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	T	18.74	3.687802	0.68271	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000547068;ENST00000551008;ENST00000546849	T;T;T;T;T;T;T	0.49432	3.37;3.18;3.23;0.78;3.24;3.22;3.06	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.61476	0.2350	L	0.43152	1.355	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;D;D	0.83275	0.996;0.992;0.981;0.992;0.994	T	0.60811	-0.7189	10	0.44086	T	0.13	.	15.6625	0.77199	0.0:0.0:0.0:1.0	.	44;116;146;114;133	F8W0C2;Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;.;NPAS3_HUMAN;.;.	C	123;151;114;146;116;146;133;42;44;56	ENSP00000448373:F123C;ENSP00000450392:F151C;ENSP00000319610:F114C;ENSP00000344158:F146C;ENSP00000448916:F116C;ENSP00000348460:F146C;ENSP00000350446:F133C	ENSP00000344158:F146C	F	+	2	0	NPAS3	32906194	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.464000	0.73534	2.107000	0.64212	0.533000	0.62120	TTT	NPAS3	-	NULL		0.338	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	T			33836443	+1	no_errors	ENST00000356141	ensembl	human	known	70_37	missense	SNP	1.000	G
NPAS4	266743	genome.wustl.edu	37	11	66191114	66191114	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:66191114G>A	ENST00000311034.2	+	6	1050	c.874G>A	c.(874-876)Gca>Aca	p.A292T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	292	PAC.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGGAGGCTGGGCATGGATTTA	0.527																																																	0													94.0	85.0	88.0					11																	66191114		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.874G>A	11.37:g.66191114G>A	ENSP00000311196:p.Ala292Thr		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.A292T	ENST00000311034.2	37	c.874	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936122	0.34189	.	.	ENSG00000174576	ENST00000311034	T	0.16897	2.31	4.97	4.04	0.47022	PAS fold-3 (1);	0.246221	0.29059	N	0.013269	T	0.08313	0.0207	N	0.04508	-0.205	0.31055	N	0.714793	B	0.02656	0.0	B	0.04013	0.001	T	0.05241	-1.0897	10	0.51188	T	0.08	-2.7691	10.258	0.43410	0.0978:0.0:0.9022:0.0	.	292	Q8IUM7	NPAS4_HUMAN	T	292	ENSP00000311196:A292T	ENSP00000311196:A292T	A	+	1	0	NPAS4	65947690	0.990000	0.36364	1.000000	0.80357	0.995000	0.86356	1.200000	0.32247	1.279000	0.44446	0.561000	0.74099	GCA	NPAS4	-	pfam_PAS_fold_3		0.527	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	G	NM_178864		66191114	+1	no_errors	ENST00000311034	ensembl	human	known	70_37	missense	SNP	1.000	A
NPC1L1	29881	genome.wustl.edu	37	7	44560680	44560680	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:44560680C>T	ENST00000289547.4	-	13	3046	c.2991G>A	c.(2989-2991)acG>acA	p.T997T	NPC1L1_ENST00000381160.3_Silent_p.T997T|NPC1L1_ENST00000546276.1_Silent_p.T951T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	997					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGAGCCCATCGTGATGCTCA	0.567																																																	0													139.0	137.0	138.0					7																	44560680		2203	4300	6503	SO:0001819	synonymous_variant	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2991G>A	7.37:g.44560680C>T			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	pfam_Patched,pfscan_SSD	p.T997	ENST00000289547.4	37	c.2991	CCDS5491.1	7																																																																																			NPC1L1	-	NULL		0.567	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	C	NM_013389		44560680	-1	no_errors	ENST00000289547	ensembl	human	known	70_37	silent	SNP	0.000	T
NR1H2	7376	genome.wustl.edu	37	19	50881478	50881478	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:50881478A>C	ENST00000253727.5	+	5	489	c.254A>C	c.(253-255)gAg>gCg	p.E85A	NR1H2_ENST00000599105.1_Missense_Mutation_p.E85A|NR1H2_ENST00000598168.1_Missense_Mutation_p.E85A|NR1H2_ENST00000593926.1_Missense_Mutation_p.E85A|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Intron	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	85					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTGGGCCACGAGCTTTGCCGT	0.622																																																	0													91.0	111.0	104.0					19																	50881478		2183	4296	6479	SO:0001583	missense	7376			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.254A>C	19.37:g.50881478A>C	ENSP00000253727:p.Glu85Ala		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	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_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.E85A	ENST00000253727.5	37	c.254	CCDS42593.1	19	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982958	0.74474	.	.	ENSG00000131408	ENST00000253727;ENST00000376942	D	0.92545	-3.06	4.74	3.7	0.42460	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (2);	0.000000	0.64402	D	0.000010	D	0.95971	0.8688	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95539	0.8610	10	0.87932	D	0	.	10.0544	0.42237	0.8487:0.0:0.0:0.1512	.	85;85	P55055;F1D8P7	NR1H2_HUMAN;.	A	85	ENSP00000253727:E85A	ENSP00000253727:E85A	E	+	2	0	NR1H2	55573290	1.000000	0.71417	0.997000	0.53966	0.809000	0.45718	8.705000	0.91357	0.917000	0.36895	0.459000	0.35465	GAG	NR1H2	-	smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Ecdystd_rcpt		0.622	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	A			50881478	+1	no_errors	ENST00000253727	ensembl	human	known	70_37	missense	SNP	1.000	C
NR2C2	7182	genome.wustl.edu	37	3	15045440	15045440	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:15045440C>T	ENST00000425241.1	+	2	381	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	NR2C2_ENST00000393102.3_Missense_Mutation_p.R7C|NR2C2_ENST00000406272.2_Missense_Mutation_p.R7C|NR2C2_ENST00000323373.6_Missense_Mutation_p.R7C			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	7					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCCTCCCCACGCATCCAGAT	0.567																																																	0													127.0	103.0	111.0					3																	15045440		2203	4300	6503	SO:0001583	missense	7182			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.19C>T	3.37:g.15045440C>T	ENSP00000388387:p.Arg7Cys		A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.R7C	ENST00000425241.1	37	c.19		3	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046048	0.93740	.	.	ENSG00000177463	ENST00000413118;ENST00000425241;ENST00000435454;ENST00000323373;ENST00000393102;ENST00000437120;ENST00000406272	D;D;D;D;D	0.96041	-3.89;-3.57;-3.89;-3.49;-3.89	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.96947	0.9003	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.71414	0.891;0.973	D	0.97509	1.0065	10	0.72032	D	0.01	.	18.5771	0.91159	0.0:1.0:0.0:0.0	.	7;7	P49116;F2YGU2	NR2C2_HUMAN;.	C	7	ENSP00000388387:R7C;ENSP00000320447:R7C;ENSP00000376814:R7C;ENSP00000401807:R7C;ENSP00000384463:R7C	ENSP00000320447:R7C	R	+	1	0	NR2C2	15020444	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.574000	0.60900	2.493000	0.84123	0.563000	0.77884	CGC	NR2C2	-	NULL		0.567	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	C	NM_003298		15045440	+1	no_errors	ENST00000323373	ensembl	human	known	70_37	missense	SNP	1.000	T
NR2E1	7101	genome.wustl.edu	37	6	108508606	108508606	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:108508606C>A	ENST00000368986.4	+	9	1805	c.1097C>A	c.(1096-1098)aCc>aAc	p.T366N	NR2E1_ENST00000368983.3_Missense_Mutation_p.T403N	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	366	Required for transcriptional repression. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TTCAAAAAAACCATCGGCAAT	0.403																																																	0													162.0	156.0	158.0					6																	108508606		2203	4300	6503	SO:0001583	missense	7101			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.1097C>A	6.37:g.108508606C>A	ENSP00000357982:p.Thr366Asn		Q6ZMP8	Missense_Mutation	SNP	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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.T366N	ENST00000368986.4	37	c.1097	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898853	0.52227	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.96885	-4.16;-4.16	5.73	5.73	0.89815	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.94712	0.8294	M	0.64997	1.995	0.80722	D	1	B	0.24618	0.107	B	0.31614	0.133	D	0.92008	0.5616	10	0.54805	T	0.06	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	366	Q9Y466	NR2E1_HUMAN	N	366;403	ENSP00000357982:T366N;ENSP00000357979:T403N	ENSP00000357979:T403N	T	+	2	0	NR2E1	108615299	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.481000	0.81124	2.716000	0.92895	0.655000	0.94253	ACC	NR2E1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd		0.403	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	HGNC	protein_coding	OTTHUMT00000041712.2	C			108508606	+1	no_errors	ENST00000368986	ensembl	human	known	70_37	missense	SNP	1.000	A
NR6A1	2649	genome.wustl.edu	37	9	127287012	127287012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:127287012G>A	ENST00000487099.2	-	9	1499	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	NR6A1_ENST00000416460.2_Nonsense_Mutation_p.R443*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.R444*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.R447*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	448					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|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 (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GCAATATATCGAATCTCAGGT	0.443																																					Esophageal Squamous(192;272 2884 6208 20560)												0													144.0	124.0	131.0					9																	127287012		2203	4300	6503	SO:0001587	stop_gained	2649			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1342C>T	9.37:g.127287012G>A	ENSP00000420267:p.Arg448*		O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Nonsense_Mutation	SNP	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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R448*	ENST00000487099.2	37	c.1342	CCDS35137.1	9	.	.	.	.	.	.	.	.	.	.	G	38	7.247830	0.98161	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8769	0.92341	0.0:0.0:1.0:0.0	.	.	.	.	X	448;444;443;447	.	ENSP00000341135:R447X	R	-	1	2	NR6A1	126326833	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.179000	0.94861	2.695000	0.91970	0.655000	0.94253	CGA	NR6A1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.443	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR6A1	HGNC	protein_coding	OTTHUMT00000054043.4	G			127287012	-1	no_errors	ENST00000487099	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NRBP2	340371	genome.wustl.edu	37	8	144919847	144919847	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:144919847G>A	ENST00000442628.2	-	11	1060	c.921C>T	c.(919-921)ttC>ttT	p.F307F	NRBP2_ENST00000327830.5_Silent_p.F64F	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGTGCACCTCGAAGAGCACGC	0.692																																																	0													29.0	34.0	32.0					8																	144919847		2200	4295	6495	SO:0001819	synonymous_variant	340371			BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.921C>T	8.37:g.144919847G>A				Silent	SNP	superfamily_Kinase-like_dom	p.F64	ENST00000442628.2	37	c.192	CCDS34959.2	8																																																																																			NRBP2	-	superfamily_Kinase-like_dom		0.692	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NRBP2	HGNC	protein_coding	OTTHUMT00000382247.1	G	NM_178564		144919847	-1	no_errors	ENST00000327830	ensembl	human	known	70_37	silent	SNP	0.994	A
NRCAM	4897	genome.wustl.edu	37	7	107807496	107807496	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:107807496T>G	ENST00000425651.2	-	27	3335	c.3336A>C	c.(3334-3336)gaA>gaC	p.E1112D	NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379028.3_Missense_Mutation_p.E1112D|NRCAM_ENST00000379022.4_Missense_Mutation_p.E1112D|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000413765.2_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1112	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CATTTACAATTTCTTTTCTCC	0.388																																																	0													76.0	77.0	77.0					7																	107807496		1873	4100	5973	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3336A>C	7.37:g.107807496T>G	ENSP00000401244:p.Glu1112Asp		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1112D	ENST00000425651.2	37	c.3336	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	T	13.91	2.379272	0.42207	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000425651;ENST00000379022	T;T;T	0.57595	0.39;0.39;0.39	5.67	4.45	0.53987	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.149927	0.64402	N	0.000014	T	0.39253	0.1071	L	0.28192	0.835	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.19192	-1.0313	10	0.29301	T	0.29	.	13.3858	0.60795	0.0:0.0:0.1303:0.8697	.	1112	Q92823	NRCAM_HUMAN	D	1112	ENSP00000368314:E1112D;ENSP00000401244:E1112D;ENSP00000368308:E1112D	ENSP00000368308:E1112D	E	-	3	2	NRCAM	107594732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.659000	0.46741	2.284000	0.76573	0.523000	0.50628	GAA	NRCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.388	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	T	NM_001037132		107807496	-1	no_errors	ENST00000379028	ensembl	human	known	70_37	missense	SNP	1.000	G
NRCAM	4897	genome.wustl.edu	37	7	107807498	107807498	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:107807498C>A	ENST00000425651.2	-	27	3333	c.3334G>T	c.(3334-3336)Gaa>Taa	p.E1112*	NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379028.3_Nonsense_Mutation_p.E1112*|NRCAM_ENST00000379022.4_Nonsense_Mutation_p.E1112*|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000413765.2_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1112	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTTACAATTTCTTTTCTCCAT	0.383																																																	0													77.0	77.0	77.0					7																	107807498		1871	4099	5970	SO:0001587	stop_gained	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3334G>T	7.37:g.107807498C>A	ENSP00000401244:p.Glu1112*		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1112*	ENST00000425651.2	37	c.3334	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	46	12.668681	0.99687	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000425651;ENST00000379022	.	.	.	5.67	4.79	0.61399	.	0.149927	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	15.2425	0.73482	0.0:0.9322:0.0:0.0678	.	.	.	.	X	1112	.	ENSP00000368308:E1112X	E	-	1	0	NRCAM	107594734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.249000	0.65427	1.532000	0.49169	0.643000	0.83706	GAA	NRCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.383	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	C	NM_001037132		107807498	-1	no_errors	ENST00000379028	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NRXN1	9378	genome.wustl.edu	37	2	50318533	50318533	+	Missense_Mutation	SNP	G	G	A	rs199888301		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:50318533G>A	ENST00000406316.2	-	19	5122	c.3646C>T	c.(3646-3648)Cgt>Tgt	p.R1216C	NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216C|NRXN1_ENST00000401710.1_Missense_Mutation_p.R234C|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216C|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208C|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208C|NRXN1_ENST00000404971.1_Missense_Mutation_p.R1256C|NRXN1_ENST00000342183.5_Missense_Mutation_p.R181C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1216	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCGTGAAACGAACTACATGG	0.473																																																	0													238.0	207.0	217.0					2																	50318533		2203	4300	6503	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3646C>T	2.37:g.50318533G>A	ENSP00000384311:p.Arg1216Cys		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1208C	ENST00000406316.2	37	c.3622	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919835	0.73098	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.54	4.65	0.58169	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.121992	0.29106	U	0.013137	D	0.89622	0.6768	M	0.90082	3.085	0.47905	D	0.999545	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	P;D;D;P	0.68943	0.859;0.961;0.956;0.802	D	0.91848	0.5489	10	0.87932	D	0	.	15.6747	0.77307	0.0:0.0:0.8616:0.1384	.	1256;181;1216;1208	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	C	181;135;234;1256;1216;1208;1216;1257;1208;1216	ENSP00000341184:R181C;ENSP00000385580:R234C;ENSP00000385142:R1256C;ENSP00000384311:R1216C;ENSP00000434015:R1208C;ENSP00000385017:R1216C;ENSP00000385434:R1208C;ENSP00000385681:R1216C	ENSP00000341184:R181C	R	-	1	0	NRXN1	50172037	1.000000	0.71417	0.902000	0.35471	0.992000	0.81027	4.478000	0.60230	1.309000	0.44985	0.563000	0.77884	CGT	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	G			50318533	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	missense	SNP	0.978	A
NT5C2	22978	genome.wustl.edu	37	10	104861027	104861027	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:104861027C>A	ENST00000404739.3	-	5	469	c.446G>T	c.(445-447)aGa>aTa	p.R149I	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.R120I|NT5C2_ENST00000343289.5_Missense_Mutation_p.R149I			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	149					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	AATGTAAAATCTTTCAGTATC	0.299																																																	0													91.0	98.0	96.0					10																	104861027		2203	4295	6498	SO:0001583	missense	22978			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.446G>T	10.37:g.104861027C>A	ENSP00000383960:p.Arg149Ile		B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.R149I	ENST00000404739.3	37	c.446	CCDS7544.1	10	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569168	0.86439	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156;ENST00000458345;ENST00000369853	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.96	5.96	0.96718	HAD-like domain (1);	0.045297	0.85682	D	0.000000	T	0.54759	0.1878	M	0.93197	3.39	0.80722	D	1	D;D	0.56746	0.977;0.977	P;P	0.50270	0.636;0.636	T	0.67749	-0.5590	10	0.87932	D	0	-23.4847	20.422	0.99049	0.0:1.0:0.0:0.0	.	120;149	B7Z382;P49902	.;5NTC_HUMAN	I	149;149;120;157;80;105	ENSP00000339479:R149I;ENSP00000383960:R149I;ENSP00000392236:R120I;ENSP00000396468:R157I;ENSP00000411330:R80I	ENSP00000339479:R149I	R	-	2	0	NT5C2	104851017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	AGA	NT5C2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl		0.299	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C2	HGNC	protein_coding	OTTHUMT00000050121.1	C	NM_012229		104861027	-1	no_errors	ENST00000343289	ensembl	human	known	70_37	missense	SNP	1.000	A
NT5DC3	51559	genome.wustl.edu	37	12	104208767	104208767	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:104208767A>G	ENST00000392876.3	-	2	381	c.341T>C	c.(340-342)cTc>cCc	p.L114P		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	114						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CAGCGTGTGGAGGTGCTTTGA	0.428																																																	0													172.0	158.0	163.0					12																	104208767		2203	4300	6503	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.341T>C	12.37:g.104208767A>G	ENSP00000376615:p.Leu114Pro		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.L114P	ENST00000392876.3	37	c.341	CCDS41824.1	12	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693537	0.88735	.	.	ENSG00000111696	ENST00000392876	T	0.27890	1.64	5.87	5.87	0.94306	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72301	-0.4334	10	0.87932	D	0	-35.0915	16.5764	0.84681	1.0:0.0:0.0:0.0	.	114	Q86UY8	NT5D3_HUMAN	P	114	ENSP00000376615:L114P	ENSP00000376615:L114P	L	-	2	0	NT5DC3	102732897	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	8.877000	0.92386	2.371000	0.80710	0.533000	0.62120	CTC	NT5DC3	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl		0.428	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC3	HGNC	protein_coding	OTTHUMT00000347118.2	A	NM_016575		104208767	-1	no_errors	ENST00000392876	ensembl	human	known	70_37	missense	SNP	1.000	G
NT5DC4	284958	genome.wustl.edu	37	2	113487254	113487254	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:113487254C>T	ENST00000327581.4	+	16	1272	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	NT5DC4_ENST00000497526.1_3'UTR			Q86YG4	NT5D4_HUMAN	5'-nucleotidase domain containing 4	407							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)										TAGACCCTGCCTCCTGCCTCC	0.592																																																	0																																										SO:0001819	synonymous_variant	284958			BC041437		2q13	2012-04-20			ENSG00000144130	ENSG00000144130			27678	protein-coding gene	gene with protein product							Standard	XM_001716359		Approved		uc002tid.3	Q86YG4	OTTHUMG00000153308	ENST00000327581.4:c.1221C>T	2.37:g.113487254C>T				Silent	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IG_5-nucl	p.A407	ENST00000327581.4	37	c.1221		2																																																																																			NT5DC4	-	NULL		0.592	NT5DC4-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	NT5DC4	HGNC	protein_coding	OTTHUMT00000330647.1	C	XM_001716541		113487254	+1	no_errors	ENST00000327581	ensembl	human	novel	70_37	silent	SNP	0.005	T
NUB1	51667	genome.wustl.edu	37	7	151053226	151053226	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:151053226T>G	ENST00000355851.4	+	7	688	c.611T>G	c.(610-612)gTg>gGg	p.V204G	NUB1_ENST00000566856.1_Missense_Mutation_p.V204G|NUB1_ENST00000568733.1_Missense_Mutation_p.V228G|NUB1_ENST00000477666.1_3'UTR|NUB1_ENST00000413040.2_Missense_Mutation_p.V228G	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	204					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCAGAGACAGTGGTGGATCCA	0.398																																																	0													100.0	92.0	95.0					7																	151053226		1986	4166	6152	SO:0001583	missense	51667			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.611T>G	7.37:g.151053226T>G	ENSP00000348110:p.Val204Gly		O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.V228G	ENST00000355851.4	37	c.683		7	.	.	.	.	.	.	.	.	.	.	T	11.05	1.525060	0.27299	.	.	ENSG00000013374	ENST00000413040;ENST00000355851;ENST00000483358	T;T	0.44881	0.91;0.92	4.04	4.04	0.47022	.	0.462432	0.22506	N	0.059163	T	0.18130	0.0435	N	0.03608	-0.345	0.47123	D	0.999327	B;B	0.27823	0.19;0.185	B;B	0.24701	0.039;0.055	T	0.06734	-1.0810	10	0.37606	T	0.19	-24.4293	7.0086	0.24849	0.2026:0.0:0.0:0.7973	.	204;204	Q9Y5A7;Q9Y5A7-2	NUB1_HUMAN;.	G	204	ENSP00000348110:V204G;ENSP00000420086:V204G	ENSP00000348110:V204G	V	+	2	0	NUB1	150684159	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	1.509000	0.35780	2.059000	0.61396	0.533000	0.62120	GTG	NUB1	-	NULL		0.398	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding		T	NM_016118		151053226	+1	no_errors	ENST00000568733	ensembl	human	known	70_37	missense	SNP	1.000	G
NUF2	83540	genome.wustl.edu	37	1	163318778	163318778	+	Nonsense_Mutation	SNP	C	C	T	rs375173490		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:163318778C>T	ENST00000271452.3	+	13	1447	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	NUF2_ENST00000367900.3_Nonsense_Mutation_p.R390*|NUF2_ENST00000524800.1_Nonsense_Mutation_p.R343*	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	390	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TGTCTATGAACGAGTAACCAC	0.343																																																	0								C	stop/ARG,stop/ARG	2,4404	4.2+/-10.8	0,2,2201	71.0	75.0	74.0		1168,1168	3.3	0.2	1		74	0,8600		0,0,4300	no	stop-gained,stop-gained	NUF2	NM_031423.3,NM_145697.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	390/465,390/465	163318778	2,13004	2203	4300	6503	SO:0001587	stop_gained	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1168C>T	1.37:g.163318778C>T	ENSP00000271452:p.Arg390*		Q8WU69|Q96HJ4|Q96Q78	Nonsense_Mutation	SNP	pfam_Kinetochore_Nuf2	p.R390*	ENST00000271452.3	37	c.1168	CCDS1245.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.878192	0.97055	4.54E-4	0.0	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	.	.	.	5.18	3.26	0.37387	.	0.630262	0.15081	N	0.281651	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	0.5605	3.9326	0.09292	0.1685:0.5814:0.163:0.0871	.	.	.	.	X	343;390;390	.	ENSP00000271452:R390X	R	+	1	2	NUF2	161585402	0.824000	0.29247	0.205000	0.23548	0.909000	0.53808	0.836000	0.27545	0.841000	0.35020	0.655000	0.94253	CGA	NUF2	-	NULL		0.343	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUF2	HGNC	protein_coding	OTTHUMT00000082812.1	C	NM_145697		163318778	+1	no_errors	ENST00000271452	ensembl	human	known	70_37	nonsense	SNP	0.065	T
NUP210P1	255330	genome.wustl.edu	37	3	126382235	126382235	+	RNA	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:126382235C>T	ENST00000357061.3	+	0	202					NR_034158.1				nucleoporin 210kDa pseudogene 1																		GCAACTAGAACGTTGCACTGG	0.577																																																	0																																												255330			BC042038		3q21.2	2011-08-16	2011-08-16	2011-08-16	ENSG00000198284	ENSG00000198284			27399	pseudogene	pseudogene			"""chromosome 3 open reading frame 46"""	C3orf46			Standard	NR_034158		Approved		uc003eje.1		OTTHUMG00000159577		3.37:g.126382235C>T				RNA	SNP	-	NULL	ENST00000357061.3	37	NULL		3																																																																																			NUP210P1	-	-		0.577	NUP210P1-002	KNOWN	basic	processed_transcript	NUP210P1	HGNC	pseudogene	OTTHUMT00000356320.1	C	NR_034158		126382235	+1	no_errors	ENST00000357061	ensembl	human	known	70_37	rna	SNP	0.070	T
NUP37	79023	genome.wustl.edu	37	12	102512330	102512330	+	5'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:102512330T>G	ENST00000552283.1	-	0	106				PARPBP_ENST00000392911.2_5'Flank|PARPBP_ENST00000358383.5_5'Flank|PARPBP_ENST00000541394.1_5'Flank|PARPBP_ENST00000543784.1_5'Flank|PARPBP_ENST00000327680.2_5'Flank|NUP37_ENST00000251074.1_5'UTR|PARPBP_ENST00000378128.3_5'Flank|PARPBP_ENST00000537257.1_5'Flank|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa						carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TTGTGAAAATTAAATAGCCTT	0.378																																																	0													96.0	89.0	91.0					12																	102512330		2203	4300	6503	SO:0001623	5_prime_UTR_variant	79023			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.-34A>C	12.37:g.102512330T>G			Q9H644	RNA	SNP	-	NULL	ENST00000552283.1	37	NULL	CCDS9089.1	12																																																																																			NUP37	-	-		0.378	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP37	HGNC	protein_coding	OTTHUMT00000409330.1	T	NM_024057		102512330	-1	no_errors	ENST00000543021	ensembl	human	known	70_37	rna	SNP	0.002	G
NWD1	284434	genome.wustl.edu	37	19	16861134	16861134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:16861134G>T	ENST00000552788.1	+	4	1681	c.1681G>T	c.(1681-1683)Gaa>Taa	p.E561*	NWD1_ENST00000379808.3_Nonsense_Mutation_p.E561*|NWD1_ENST00000549814.1_Nonsense_Mutation_p.E561*|NWD1_ENST00000523826.1_Nonsense_Mutation_p.E355*|NWD1_ENST00000339803.6_Nonsense_Mutation_p.E426*|NWD1_ENST00000524140.2_Nonsense_Mutation_p.E561*			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	561	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCGCAGAGGAAGCCACGCA	0.647																																																	0													24.0	27.0	26.0					19																	16861134		2203	4300	6503	SO:0001587	stop_gained	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1681G>T	19.37:g.16861134G>T	ENSP00000447224:p.Glu561*		C9J021|Q68CT3	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E561*	ENST00000552788.1	37	c.1681		19	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548304	0.86127	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	.	.	.	5.04	3.91	0.45181	.	0.392976	0.26231	N	0.025570	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-18.6592	14.603	0.68456	0.0:0.1611:0.8389:0.0	.	.	.	.	X	426;561;561;561;355;561;426	.	ENSP00000340159:E426X	E	+	1	0	NWD1	16722134	1.000000	0.71417	0.205000	0.23548	0.057000	0.15508	4.638000	0.61353	2.339000	0.79563	0.549000	0.68633	GAA	NWD1	-	NULL		0.647	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	G	NM_001007525		16861134	+1	no_errors	ENST00000379808	ensembl	human	known	70_37	nonsense	SNP	0.899	T
NUP62	23636	genome.wustl.edu	37	19	50412967	50412967	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:50412967G>T	ENST00000596217.1	-	2	1985	c.98C>A	c.(97-99)tCt>tAt	p.S33Y	NUP62_ENST00000413454.1_Missense_Mutation_p.S33Y|NUP62_ENST00000597723.1_Missense_Mutation_p.S33Y|NUP62_ENST00000597029.1_Missense_Mutation_p.S33Y|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'UTR|NUP62_ENST00000422090.2_Missense_Mutation_p.S33Y|IL4I1_ENST00000341114.3_Intron|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000352066.3_Missense_Mutation_p.S33Y			P37198	NUP62_HUMAN	nucleoporin 62kDa	33	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGTGGAGAAAGAAAACCCTGT	0.562																																																	0													73.0	81.0	79.0					19																	50412967		2203	4300	6503	SO:0001583	missense	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.98C>A	19.37:g.50412967G>T	ENSP00000471191:p.Ser33Tyr		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.S33Y	ENST00000596217.1	37	c.98	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877944	0.51801	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.44083	0.93;0.93;0.93	4.28	4.28	0.50868	Nucleoporin, NSP1-like, C-terminal (1);	0.445909	0.19185	U	0.120573	T	0.63022	0.2476	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.99	T	0.65619	-0.6124	10	0.87932	D	0	-13.888	12.5075	0.55989	0.0:0.0:1.0:0.0	.	33;33	Q8WYU3;P37198	.;NUP62_HUMAN	Y	33	ENSP00000305503:S33Y;ENSP00000407331:S33Y;ENSP00000387991:S33Y	ENSP00000321866:S33Y	S	-	2	0	NUP62	55104779	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.906000	0.56340	2.661000	0.90470	0.563000	0.77884	TCT	NUP62	-	NULL		0.562	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	G	NM_153719		50412967	-1	no_errors	ENST00000352066	ensembl	human	known	70_37	missense	SNP	1.000	T
NXPE1	120400	genome.wustl.edu	37	11	114393199	114393199	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:114393199T>C	ENST00000424269.1	-	5	1134	c.1135A>G	c.(1135-1137)Act>Gct	p.T379A	NXPE1_ENST00000251921.2_Missense_Mutation_p.T237A|NXPE1_ENST00000536271.1_Missense_Mutation_p.T95A			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	379						extracellular region (GO:0005576)											AAGATTCCAGTTTCATGAAGA	0.318																																																	0													67.0	71.0	70.0					11																	114393199		2201	4296	6497	SO:0001583	missense	120400			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1135A>G	11.37:g.114393199T>C	ENSP00000411690:p.Thr379Ala		B0YJ13	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.T379A	ENST00000424269.1	37	c.1135		11	.	.	.	.	.	.	.	.	.	.	T	3.004	-0.205362	0.06180	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.17213	2.29;2.29;2.29	4.44	3.29	0.37713	.	0.395383	0.23081	N	0.052146	T	0.08179	0.0204	N	0.11927	0.2	0.21105	N	0.999786	B	0.11235	0.004	B	0.17979	0.02	T	0.38585	-0.9654	10	0.07644	T	0.81	.	9.8318	0.40946	0.1541:0.0:0.0:0.8459	.	379	Q8N323	FA55A_HUMAN	A	95;237;379	ENSP00000445200:T95A;ENSP00000251921:T237A;ENSP00000411690:T379A	ENSP00000251921:T237A	T	-	1	0	FAM55A	113898409	0.975000	0.34042	0.776000	0.31678	0.823000	0.46562	1.917000	0.39996	0.784000	0.33661	0.528000	0.53228	ACT	NXPE1	-	NULL		0.318	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding		T	NM_152315		114393199	-1	no_errors	ENST00000424269	ensembl	human	known	70_37	missense	SNP	0.928	C
NXPE1	120400	genome.wustl.edu	37	11	114393690	114393690	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:114393690A>C	ENST00000424269.1	-	4	1018	c.1019T>G	c.(1018-1020)aTa>aGa	p.I340R	NXPE1_ENST00000251921.2_Missense_Mutation_p.I198R|NXPE1_ENST00000536271.1_Missense_Mutation_p.I56R			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	340						extracellular region (GO:0005576)											ACAGCCATTTATCTTAATTGT	0.403																																																	0													110.0	94.0	99.0					11																	114393690		2201	4296	6497	SO:0001583	missense	120400			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1019T>G	11.37:g.114393690A>C	ENSP00000411690:p.Ile340Arg		B0YJ13	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.I340R	ENST00000424269.1	37	c.1019		11	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479298	0.44044	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.18338	2.22;2.22;2.22	4.46	0.276	0.15663	.	0.691435	0.13418	N	0.389359	T	0.36082	0.0954	M	0.87547	2.89	0.09310	N	1	P	0.40731	0.728	P	0.57057	0.812	T	0.23404	-1.0189	10	0.54805	T	0.06	.	3.6245	0.08108	0.6041:0.0:0.2362:0.1597	.	340	Q8N323	FA55A_HUMAN	R	56;198;340	ENSP00000445200:I56R;ENSP00000251921:I198R;ENSP00000411690:I340R	ENSP00000251921:I198R	I	-	2	0	FAM55A	113898900	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	1.080000	0.30779	-0.068000	0.12953	0.528000	0.53228	ATA	NXPE1	-	NULL		0.403	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding		A	NM_152315		114393690	-1	no_errors	ENST00000424269	ensembl	human	known	70_37	missense	SNP	0.001	C
NYAP1	222950	genome.wustl.edu	37	7	100087051	100087052	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:100087051_100087052insG	ENST00000300179.2	+	4	1866_1867	c.1707_1708insG	c.(1708-1710)gggfs	p.G570fs	NYAP1_ENST00000423930.1_Frame_Shift_Ins_p.G570fs|NYAP1_ENST00000454988.1_Frame_Shift_Ins_p.G513fs	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	570					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCCTCAAGGCTGGGGGGGTGCT	0.644																																																	0																																										SO:0001589	frameshift_variant	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1714dupG	7.37:g.100087058_100087058dupG	ENSP00000300179:p.Gly570fs		Q6U9Y3|Q8N1V0	Frame_Shift_Ins	INS	NULL	p.V571fs	ENST00000300179.2	37	c.1707_1708	CCDS5696.1	7																																																																																			NYAP1	-	NULL		0.644	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NYAP1	HGNC	protein_coding	OTTHUMT00000339335.2	-	NM_173564		100087052	+1	no_errors	ENST00000423930	ensembl	human	known	70_37	frame_shift_ins	INS	0.997:1.000	G
NYAP2	57624	genome.wustl.edu	37	2	226446723	226446723	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:226446723G>A	ENST00000272907.6	+	4	1003	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	197					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R197Q(2)									AAACCGAAGCGAAATCCGAAC	0.502																																																	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)											119.0	124.0	122.0					2																	226446723		1929	4133	6062	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.590G>A	2.37:g.226446723G>A	ENSP00000272907:p.Arg197Gln		A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.R197Q	ENST00000272907.6	37	c.590	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448812	0.84101	.	.	ENSG00000144460	ENST00000272907	T	0.72394	-0.65	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.86308	0.1684	10	0.72032	D	0.01	-27.5579	20.3541	0.98825	0.0:0.0:1.0:0.0	.	197	Q9P242	K1486_HUMAN	Q	197	ENSP00000272907:R197Q	ENSP00000272907:R197Q	R	+	2	0	KIAA1486	226154967	1.000000	0.71417	0.267000	0.24556	0.429000	0.31625	9.472000	0.97709	2.816000	0.96949	0.644000	0.83932	CGA	NYAP2	-	NULL		0.502	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	G	NM_020864		226446723	+1	no_errors	ENST00000272907	ensembl	human	known	70_37	missense	SNP	0.888	A
NYNRIN	57523	genome.wustl.edu	37	14	24882303	24882303	+	Splice_Site	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:24882303C>T	ENST00000382554.3	+	7	3061	c.2743C>T	c.(2743-2745)Cgc>Tgc	p.R915C	NYNRIN_ENST00000554505.1_3'UTR	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	915					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGTCAAAGATCGGTAAGATGG	0.512																																																	0													61.0	58.0	59.0					14																	24882303		1985	4174	6159	SO:0001630	splice_region_variant	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2744+1C>T	14.37:g.24882303C>T			Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.R915C	ENST00000382554.3	37	c.2743	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833274	0.71258	.	.	ENSG00000205978	ENST00000382554	T	0.53640	0.61	4.9	4.9	0.64082	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.68504	0.3008	M	0.84326	2.69	0.48632	D	0.99968	D	0.89917	1.0	D	0.91635	0.999	T	0.72544	-0.4261	9	0.87932	D	0	.	10.6297	0.45530	0.1915:0.8085:0.0:0.0	.	915	Q9P2P1	NYNRI_HUMAN	C	915	ENSP00000371994:R915C	ENSP00000371994:R915C	R	+	1	0	NYNRIN	23952143	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.385000	0.44371	2.552000	0.86080	0.467000	0.42956	CGC	NYNRIN	-	pfam_RNase_Zc3h12		0.512	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	C		Missense_Mutation	24882303	+1	no_errors	ENST00000382554	ensembl	human	known	70_37	missense	SNP	1.000	T
OBSCN	84033	genome.wustl.edu	37	1	228434252	228434252	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:228434252G>A	ENST00000422127.1	+	13	3825	c.3781G>A	c.(3781-3783)Gag>Aag	p.E1261K	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1261K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E1353K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1261	Ig-like 13.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTTGCCAAGGAGCAGTTGGT	0.577																																																	0													98.0	97.0	97.0					1																	228434252		2064	4190	6254	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3781G>A	1.37:g.228434252G>A	ENSP00000409493:p.Glu1261Lys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E1261K	ENST00000422127.1	37	c.3781	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	12.43	1.936303	0.34189	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.61510	0.53;0.1	4.84	3.93	0.45458	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.423339	0.23226	N	0.050519	T	0.42630	0.1211	N	0.22421	0.69	0.80722	D	1	P;B	0.42078	0.77;0.104	P;B	0.48627	0.584;0.116	T	0.41448	-0.9508	10	0.07644	T	0.81	.	4.1237	0.10118	0.3062:0.1729:0.5209:0.0	.	1261;1261	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	1261	ENSP00000284548:E1261K;ENSP00000409493:E1261K	ENSP00000284548:E1261K	E	+	1	0	OBSCN	226500875	1.000000	0.71417	0.992000	0.48379	0.330000	0.28571	1.446000	0.35090	1.012000	0.39366	0.563000	0.77884	GAG	OBSCN	-	pfscan_Ig-like		0.577	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228434252	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	1.000	A
OBSCN	84033	genome.wustl.edu	37	1	228474614	228474614	+	Missense_Mutation	SNP	C	C	T	rs367727238	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:228474614C>T	ENST00000422127.1	+	35	9462	c.9418C>T	c.(9418-9420)Cgg>Tgg	p.R3140W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R3140W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R259W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1987W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R3569W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R259W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3140	Ig-like 31.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGTCTGCCCGGTGCCAGCT	0.657													C|||	13	0.00259585	0.0	0.0	5008	,	,		17488	0.0		0.0	False		,,,				2504	0.0133																0													27.0	32.0	30.0					1																	228474614		1984	4147	6131	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9418C>T	1.37:g.228474614C>T	ENSP00000409493:p.Arg3140Trp		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R3140W	ENST00000422127.1	37	c.9418	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007086	0.54361	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.17	0.517	0.17025	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.075529	0.50627	D	0.000118	D	0.87822	0.6274	H	0.96805	3.885	0.31307	N	0.687628	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.978	D	0.88504	0.3084	10	0.72032	D	0.01	.	13.8066	0.63236	0.733:0.2669:0.0:0.0	.	3140;3140	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	3140;3140;259;259;1987	ENSP00000284548:R3140W;ENSP00000409493:R3140W;ENSP00000355668:R259W;ENSP00000355670:R259W;ENSP00000352613:R1987W	ENSP00000284548:R3140W	R	+	1	2	OBSCN	226541237	0.973000	0.33851	0.809000	0.32408	0.037000	0.13140	1.725000	0.38074	0.262000	0.21774	0.561000	0.74099	CGG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228474614	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.993	T
OBSCN	84033	genome.wustl.edu	37	1	228547665	228547665	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:228547665C>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000284548.11_Missense_Mutation_p.L6358I|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.L3477I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATCGGGGCATCTCTTCACACT	0.642																																																	0													20.0	23.0	22.0					1																	228547665		1915	4116	6031	SO:0001627	intron_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2612C>A	1.37:g.228547665C>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like,pfscan_DH-domain	p.L3477I	ENST00000422127.1	37	c.10429	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	9.905	1.207981	0.22205	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.56611	0.45;0.59	4.3	2.36	0.29203	.	.	.	.	.	T	0.43853	0.1266	L	0.57536	1.79	0.09310	N	1	B	0.28933	0.228	B	0.21917	0.037	T	0.35475	-0.9787	9	0.45353	T	0.12	.	6.2851	0.21029	0.3491:0.3033:0.3476:0.0	.	6358	Q5VST9-3	.	I	6358;3477	ENSP00000284548:L6358I;ENSP00000355670:L3477I	ENSP00000284548:L6358I	L	+	1	0	OBSCN	226614288	0.003000	0.15002	0.057000	0.19452	0.015000	0.08874	0.672000	0.25187	1.004000	0.39156	0.563000	0.77884	CTC	OBSCN	-	NULL		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228547665	+1	no_errors	ENST00000366709	ensembl	human	known	70_37	missense	SNP	0.004	A
OBSL1	23363	genome.wustl.edu	37	2	220432576	220432576	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:220432576C>T	ENST00000404537.1	-	3	1454	c.1398G>A	c.(1396-1398)gaG>gaA	p.E466E	OBSL1_ENST00000289656.3_Silent_p.E53E|OBSL1_ENST00000373873.4_Silent_p.E466E|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Silent_p.E466E|OBSL1_ENST00000373876.1_Silent_p.E466E|OBSL1_ENST00000603926.1_Silent_p.E466E	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	466					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCGGCAGCTCCTCCCCATCAC	0.642																																																	0													40.0	45.0	43.0					2																	220432576		2146	4260	6406	SO:0001819	synonymous_variant	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1398G>A	2.37:g.220432576C>T			A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E466	ENST00000404537.1	37	c.1398	CCDS46520.1	2																																																																																			OBSL1	-	smart_Ig_sub		0.642	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220432576	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	silent	SNP	0.918	T
OCLN	100506658	genome.wustl.edu	37	5	68840932	68840932	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:68840932G>T	ENST00000355237.2	+	6	1675	c.1239G>T	c.(1237-1239)gaG>gaT	p.E413D	OCLN_ENST00000396442.2_Missense_Mutation_p.E413D|OCLN_ENST00000514370.1_3'UTR|OCLN_ENST00000538151.1_Missense_Mutation_p.E162D|OCLN_ENST00000380766.2_Missense_Mutation_p.E359D|OCLN_ENST00000542132.1_Missense_Mutation_p.E91D	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	413					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATGAGCTGGAGGAGGACTGGA	0.527																																																	0													90.0	77.0	82.0					5																	68840932		2202	4298	6500	SO:0001583	missense	100506658			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.1239G>T	5.37:g.68840932G>T	ENSP00000347379:p.Glu413Asp		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom,pirsf_Occludin,prints_Occludin	p.E413D	ENST00000355237.2	37	c.1239	CCDS4006.1	5	.	.	.	.	.	.	.	.	.	.	G	4.517	0.095871	0.08681	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766;ENST00000538151;ENST00000542132	T;T;D	0.84873	-0.99;-0.99;-1.91	4.92	3.99	0.46301	.	0.097543	0.64402	D	0.000001	T	0.68577	0.3016	N	0.19112	0.55	0.37260	D	0.906936	B	0.13594	0.008	B	0.12156	0.007	T	0.61676	-0.7014	10	0.05959	T	0.93	-40.068	7.9522	0.30021	0.0868:0.0:0.7528:0.1604	.	413	Q16625	OCLN_HUMAN	D	413;413;359;162;91	ENSP00000347379:E413D;ENSP00000379719:E413D;ENSP00000370143:E359D	ENSP00000347379:E413D	E	+	3	2	OCLN	68876688	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.081000	0.30791	2.446000	0.82766	0.644000	0.83932	GAG	OCLN	-	pirsf_Occludin		0.527	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	G	NM_002538		68840932	+1	no_errors	ENST00000355237	ensembl	human	known	70_37	missense	SNP	1.000	T
OCRL	4952	genome.wustl.edu	37	X	128710357	128710357	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:128710357C>T	ENST00000371113.4	+	18	2108	c.1943C>T	c.(1942-1944)tCg>tTg	p.S648L	OCRL_ENST00000357121.5_Missense_Mutation_p.S648L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	648	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ATCCTGAACTCGGGAGAAGAT	0.403																																																	0													156.0	130.0	139.0					X																	128710357		2203	4300	6503	SO:0001583	missense	4952			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1943C>T	X.37:g.128710357C>T	ENSP00000360154:p.Ser648Leu		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S648L	ENST00000371113.4	37	c.1943	CCDS35393.1	X	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269305	0.80469	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.18810	2.19;2.19	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.97110	1.0;0.9	T	0.33599	-0.9862	10	0.56958	D	0.05	.	18.5888	0.91200	0.0:1.0:0.0:0.0	.	648;648	Q01968-2;Q01968	.;OCRL_HUMAN	L	648	ENSP00000360154:S648L;ENSP00000349635:S648L	ENSP00000349635:S648L	S	+	2	0	OCRL	128538038	1.000000	0.71417	0.993000	0.49108	0.827000	0.46813	7.487000	0.81328	2.618000	0.88619	0.600000	0.82982	TCG	OCRL	-	NULL		0.403	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	C	NM_000276		128710357	+1	no_errors	ENST00000371113	ensembl	human	known	70_37	missense	SNP	0.999	T
OCSTAMP	128506	genome.wustl.edu	37	20	45174665	45174665	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:45174665C>T	ENST00000279028.2	-	2	361	c.348G>A	c.(346-348)gaG>gaA	p.E116E		NM_080721.1	NP_542452.1	Q9BR26	OCSTP_HUMAN	osteoclast stimulatory transmembrane protein	116					cellular response to estrogen stimulus (GO:0071391)|cellular response to tumor necrosis factor (GO:0071356)|multinuclear osteoclast differentiation (GO:0072674)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of osteoclast proliferation (GO:0090290)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						GGCGGCCCTGCTCCATACCCA	0.672																																																	0													32.0	38.0	36.0					20																	45174665		692	1591	2283	SO:0001819	synonymous_variant	128506			AL034424	CCDS54468.1	20q13.12	2012-03-27	2012-03-27	2012-03-27	ENSG00000149635	ENSG00000149635			16116	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 123"""	C20orf123		18064667	Standard	NM_080721		Approved	dJ257E24.3	uc010zxu.2	Q9BR26	OTTHUMG00000032652	ENST00000279028.2:c.348G>A	20.37:g.45174665C>T				Silent	SNP	pfam_DC_STAMP-like	p.E116	ENST00000279028.2	37	c.348	CCDS54468.1	20																																																																																			OCSTAMP	-	NULL		0.672	OCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCSTAMP	HGNC	protein_coding	OTTHUMT00000079573.2	C	XM_496476		45174665	-1	no_errors	ENST00000279028	ensembl	human	known	70_37	silent	SNP	0.998	T
ODF2	4957	genome.wustl.edu	37	9	131255085	131255085	+	Splice_Site	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:131255085G>A	ENST00000434106.3	+	16	2115		c.e16+1		ODF2_ENST00000604420.1_Splice_Site|ODF2_ENST00000448249.3_Splice_Site|ODF2_ENST00000546203.1_Splice_Site|ODF2_ENST00000372791.3_Splice_Site|ODF2_ENST00000372814.3_Splice_Site|ODF2_ENST00000393533.2_Splice_Site|ODF2_ENST00000444119.2_Splice_Site|ODF2_ENST00000372807.5_Splice_Site|ODF2_ENST00000351030.3_Splice_Site|ODF2_ENST00000393527.3_Splice_Site	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GATTGAGGCGGTACTGCTTTC	0.443																																																	0													191.0	159.0	170.0					9																	131255085		2203	4300	6503	SO:0001630	splice_region_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1752+1G>A	9.37:g.131255085G>A			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Splice_Site	SNP	-	e15+1	ENST00000434106.3	37	c.1752+1	CCDS56588.1	9	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309165	0.81247	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8588	0.79008	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODF2	130294906	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.567000	0.73983	2.654000	0.90174	0.650000	0.86243	.	ODF2	-	-		0.443	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	G		Intron	131255085	+1	no_errors	ENST00000372796	ensembl	human	known	70_37	splice_site	SNP	1.000	A
OGDH	4967	genome.wustl.edu	37	7	44706246	44706246	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:44706246G>T	ENST00000222673.5	+	5	559				OGDH_ENST00000444676.1_Intron|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000443864.2_Intron|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000447398.1_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CACCTGGGGAGTTCCTTCCCC	0.458																																																	0																																										SO:0001627	intron_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.518-89G>T	7.37:g.44706246G>T			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	RNA	SNP	-	NULL	ENST00000222673.5	37	NULL	CCDS34627.1	7																																																																																			OGDH	-	-		0.458	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	G			44706246	+1	no_errors	ENST00000459672	ensembl	human	known	70_37	rna	SNP	0.024	T
OGT	8473	genome.wustl.edu	37	X	70784469	70784469	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:70784469A>C	ENST00000373719.3	+	19	2672	c.2455A>C	c.(2455-2457)Act>Cct	p.T819P	OGT_ENST00000373701.3_Missense_Mutation_p.T809P	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	819					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)	p.T819A(1)|p.T809A(1)		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)					TAAGGCTGCAACTGGAGAGGA	0.368																																																	2	Substitution - Missense(2)	breast(2)											93.0	78.0	83.0					X																	70784469		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.2455A>C	X.37:g.70784469A>C	ENSP00000362824:p.Thr819Pro		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T819P	ENST00000373719.3	37	c.2455	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700888	0.48307	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.74421	-0.84;-0.84	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	L	0.37850	1.14	0.80722	D	1	D;D;B	0.76494	0.958;0.999;0.023	P;D;B	0.81914	0.786;0.995;0.062	T	0.79729	-0.1681	10	0.41790	T	0.15	.	14.4616	0.67453	1.0:0.0:0.0:0.0	.	693;809;819	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	P	819;809	ENSP00000362824:T819P;ENSP00000362805:T809P	ENSP00000362805:T809P	T	+	1	0	OGT	70701194	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	9.254000	0.95512	1.863000	0.54032	0.486000	0.48141	ACT	OGT	-	NULL		0.368	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	A	NM_003605, NM_181672		70784469	+1	no_errors	ENST00000373719	ensembl	human	known	70_37	missense	SNP	1.000	C
OLAH	55301	genome.wustl.edu	37	10	15115213	15115213	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:15115213G>A	ENST00000378228.3	+	8	1037	c.783G>A	c.(781-783)tcG>tcA	p.S261S	OLAH_ENST00000378217.3_Silent_p.S314S|OLAH_ENST00000485251.1_3'UTR	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	261					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AAGTATCATCGATATCCAATT	0.313																																																	0													58.0	62.0	61.0					10																	15115213		2203	4300	6503	SO:0001819	synonymous_variant	55301			AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.783G>A	10.37:g.15115213G>A			Q5VUB6|Q9NUW1	Silent	SNP	pfam_Thioesterase	p.S314	ENST00000378228.3	37	c.942	CCDS31152.1	10																																																																																			OLAH	-	NULL		0.313	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLAH	HGNC	protein_coding	OTTHUMT00000046964.1	G	NM_018324		15115213	+1	no_errors	ENST00000378217	ensembl	human	known	70_37	silent	SNP	0.000	A
OMP	4975	genome.wustl.edu	37	11	76814000	76814000	+	Missense_Mutation	SNP	C	C	T	rs201636126		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:76814000C>T	ENST00000529803.1	+	1	115	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	39					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CGGGGAGAAGCGCCAGGATGG	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17629	0.0		0.0	False		,,,				2504	0.0																0								C	,CYS/ARG	6,4278		0,6,2136	38.0	49.0	45.0		,115	4.2	1.0	11		45	1,8485		0,1,4242	yes	intron,missense	CAPN5,OMP	NM_004055.4,NM_006189.1	,180	0,7,6378	TT,TC,CC		0.0118,0.1401,0.0548	,probably-damaging	,39/164	76814000	7,12763	2142	4243	6385	SO:0001583	missense	4975			U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.115C>T	11.37:g.76814000C>T	ENSP00000436376:p.Arg39Cys		Q562G2	Missense_Mutation	SNP	pfam_Olfactory_marker,superfamily_Olfactory_marker	p.R39C	ENST00000529803.1	37	c.115	CCDS53682.1	11	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645113	0.67358	0.001401	1.18E-4	ENSG00000254550	ENST00000529803	T	0.34859	1.34	5.12	4.18	0.49190	.	.	.	.	.	T	0.38692	0.1050	L	0.27053	0.805	0.39260	D	0.964191	D	0.65815	0.995	P	0.54210	0.745	T	0.42899	-0.9424	9	0.72032	D	0.01	.	13.7472	0.62883	0.1598:0.8402:0.0:0.0	.	39	P47874	OMP_HUMAN	C	39	ENSP00000436376:R39C	ENSP00000436376:R39C	R	+	1	0	OMP	76491648	0.989000	0.36119	1.000000	0.80357	0.800000	0.45204	1.208000	0.32345	1.336000	0.45506	0.462000	0.41574	CGC	OMP	-	pfam_Olfactory_marker,superfamily_Olfactory_marker		0.662	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMP	HGNC	protein_coding	OTTHUMT00000382570.1	C	NM_006189		76814000	+1	no_errors	ENST00000529803	ensembl	human	known	70_37	missense	SNP	1.000	T
OPHN1	4983	genome.wustl.edu	37	X	67283722	67283722	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:67283722G>A	ENST00000355520.5	-	21	2773	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	711	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAGGGGCCGGGGAGCTGGTCT	0.577																																																	0													26.0	22.0	23.0					X																	67283722		2195	4283	6478	SO:0001583	missense	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2132C>T	X.37:g.67283722G>A	ENSP00000347710:p.Pro711Leu		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.P711L	ENST00000355520.5	37	c.2132	CCDS14388.1	X	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150010	0.37923	.	.	ENSG00000079482	ENST00000355520	T	0.54279	0.58	5.04	5.04	0.67666	.	0.442010	0.24452	N	0.038411	T	0.30572	0.0769	N	0.14661	0.345	0.80722	D	1	B	0.25667	0.131	B	0.18871	0.023	T	0.13683	-1.0500	10	0.06891	T	0.86	.	12.4245	0.55538	0.0:0.0:1.0:0.0	.	711	O60890	OPHN1_HUMAN	L	711	ENSP00000347710:P711L	ENSP00000347710:P711L	P	-	2	0	OPHN1	67200447	1.000000	0.71417	0.950000	0.38849	0.904000	0.53231	3.558000	0.53749	2.325000	0.78763	0.506000	0.49869	CCC	OPHN1	-	NULL		0.577	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPHN1	HGNC	protein_coding	OTTHUMT00000057011.1	G	NM_002547		67283722	-1	no_errors	ENST00000355520	ensembl	human	known	70_37	missense	SNP	0.969	A
OR10A6	390093	genome.wustl.edu	37	11	7949483	7949483	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:7949483C>T	ENST00000309838.2	-	1	726	c.727G>A	c.(727-729)Gct>Act	p.A243T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGAGGTGAGCGGCACAGGTG	0.453																																																	0													128.0	115.0	119.0					11																	7949483		2201	4296	6497	SO:0001583	missense	390093			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.727G>A	11.37:g.7949483C>T	ENSP00000312470:p.Ala243Thr		Q6IF59	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A243T	ENST00000309838.2	37	c.727	CCDS31420.1	11	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091944	0.36952	.	.	ENSG00000175393	ENST00000309838	T	0.37235	1.21	4.42	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.161551	0.28927	N	0.013686	T	0.32556	0.0833	L	0.53671	1.685	0.23320	N	0.997916	B	0.16603	0.018	B	0.15484	0.013	T	0.32107	-0.9919	10	0.72032	D	0.01	.	9.7112	0.40247	0.8247:0.1753:0.0:0.0	.	243	Q8NH74	O10A6_HUMAN	T	243	ENSP00000312470:A243T	ENSP00000312470:A243T	A	-	1	0	OR10A6	7906059	0.937000	0.31787	1.000000	0.80357	0.974000	0.67602	2.024000	0.41049	0.833000	0.34828	-0.272000	0.10252	GCT	OR10A6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.453	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A6	HGNC	protein_coding	OTTHUMT00000385703.1	C	NM_001004461		7949483	-1	no_errors	ENST00000309838	ensembl	human	known	70_37	missense	SNP	0.994	T
OR10H5	284433	genome.wustl.edu	37	19	15905096	15905096	+	Missense_Mutation	SNP	C	C	T	rs142693914		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:15905096C>T	ENST00000308940.8	+	1	336	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATCATCCCGCGCATGCTGGC	0.617													.|||	1	0.000199681	0.0	0.0	5008	,	,		21792	0.0		0.001	False		,,,				2504	0.0																0								C	CYS/ARG	0,4406		0,0,2203	122.0	100.0	108.0		238	2.3	0.8	19	dbSNP_134	108	1,8599		0,1,4299	no	missense	OR10H5	NM_001004466.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	80/316	15905096	1,13005	2203	4300	6503	SO:0001583	missense	284433			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.238C>T	19.37:g.15905096C>T	ENSP00000310704:p.Arg80Cys		Q6IFJ0|Q96R60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R80C	ENST00000308940.8	37	c.238	CCDS32940.1	19	.	.	.	.	.	.	.	.	.	.	.	11.79	1.744090	0.30865	0.0	1.16E-4	ENSG00000172519	ENST00000308940	T	0.01685	4.69	3.47	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.158984	0.29266	N	0.012650	T	0.03695	0.0105	M	0.87328	2.875	0.09310	N	0.999999	B	0.25667	0.131	B	0.21151	0.033	T	0.17776	-1.0358	10	0.72032	D	0.01	.	7.7827	0.29074	0.4047:0.5953:0.0:0.0	.	80	Q8NGA6	O10H5_HUMAN	C	80	ENSP00000310704:R80C	ENSP00000310704:R80C	R	+	1	0	OR10H5	15766096	0.000000	0.05858	0.807000	0.32361	0.898000	0.52572	1.227000	0.32576	1.647000	0.50633	0.585000	0.79938	CGC	OR10H5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.617	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1	C			15905096	+1	no_errors	ENST00000308940	ensembl	human	known	70_37	missense	SNP	0.079	T
OR10H1	26539	genome.wustl.edu	37	19	15918816	15918816	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:15918816T>C	ENST00000334920.2	-	1	120	c.32A>G	c.(31-33)cAa>cGa	p.Q11R		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GAGGATGAATTGGGTCACTGT	0.547																																																	0													132.0	130.0	131.0					19																	15918816		2203	4300	6503	SO:0001583	missense	26539			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.32A>G	19.37:g.15918816T>C	ENSP00000335596:p.Gln11Arg		Q6IFQ2|Q96R59	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q11R	ENST00000334920.2	37	c.32	CCDS12335.1	19	.	.	.	.	.	.	.	.	.	.	t	11.36	1.615580	0.28801	.	.	ENSG00000186723	ENST00000334920	T	0.01092	5.35	4.25	4.25	0.50352	.	0.135141	0.32868	N	0.005551	T	0.01189	0.0039	L	0.28400	0.85	0.09310	N	1	B	0.16802	0.019	B	0.17098	0.017	T	0.45585	-0.9251	10	0.72032	D	0.01	.	7.1155	0.25414	0.2007:0.0:0.0:0.7993	.	11	Q9Y4A9	O10H1_HUMAN	R	11	ENSP00000335596:Q11R	ENSP00000335596:Q11R	Q	-	2	0	OR10H1	15779816	0.007000	0.16637	0.027000	0.17364	0.015000	0.08874	1.704000	0.37857	1.562000	0.49601	0.523000	0.50628	CAA	OR10H1	-	NULL		0.547	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	HGNC	protein_coding	OTTHUMT00000460364.1	T			15918816	-1	no_errors	ENST00000334920	ensembl	human	known	70_37	missense	SNP	0.019	C
OR13A1	79290	genome.wustl.edu	37	10	45799286	45799286	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:45799286G>T	ENST00000553795.1	-	4	893	c.585C>A	c.(583-585)ttC>ttA	p.F195L	OR13A1_ENST00000374401.2_Missense_Mutation_p.F195L|OR13A1_ENST00000536058.1_Missense_Mutation_p.F195L	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CCTCGCAGAAGAAATGGATAA	0.577																																																	0													52.0	54.0	54.0					10																	45799286		2201	4299	6500	SO:0001583	missense	79290			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.585C>A	10.37:g.45799286G>T	ENSP00000451950:p.Phe195Leu		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F195L	ENST00000553795.1	37	c.585	CCDS31188.1	10	.	.	.	.	.	.	.	.	.	.	g	16.66	3.185467	0.57909	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00346	8.01;8.01;8.01	5.78	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000150	T	0.00524	0.0017	M	0.78344	2.41	0.34086	D	0.660109	P	0.40681	0.727	P	0.50825	0.651	T	0.55016	-0.8206	10	0.87932	D	0	-89.0379	9.7861	0.40677	0.1729:0.0:0.8271:0.0	.	195	Q8NGR1	O13A1_HUMAN	L	195	ENSP00000451950:F195L;ENSP00000438657:F195L;ENSP00000363522:F195L	ENSP00000311379:F195L	F	-	3	2	OR13A1	45119292	0.997000	0.39634	0.986000	0.45419	0.236000	0.25371	2.254000	0.43214	0.738000	0.32606	0.650000	0.86243	TTC	OR13A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.577	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR13A1	HGNC	protein_coding	OTTHUMT00000047779.2	G	NM_001004297		45799286	-1	no_errors	ENST00000374401	ensembl	human	known	70_37	missense	SNP	0.997	T
OR13C3	138803	genome.wustl.edu	37	9	107298510	107298510	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:107298510T>C	ENST00000374781.2	-	1	627	c.585A>G	c.(583-585)agA>agG	p.R195R		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGAAAGGCAGTCTCATGGCAA	0.438																																					GBM(86;1248 1274 14222 15028 46219)												0													132.0	131.0	131.0					9																	107298510		2203	4300	6503	SO:0001819	synonymous_variant	138803				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.585A>G	9.37:g.107298510T>C			Q5VVG1|Q6IF52	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R195	ENST00000374781.2	37	c.585	CCDS35089.1	9																																																																																			OR13C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.438	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	HGNC	protein_coding	OTTHUMT00000053477.2	T			107298510	-1	no_errors	ENST00000374781	ensembl	human	known	70_37	silent	SNP	0.000	C
OR14A2	388761	genome.wustl.edu	37	1	247886434	247886434	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:247886434C>A	ENST00000366485.1	-	1	911	c.912G>T	c.(910-912)caG>caT	p.Q304H	RP11-634B7.5_ENST00000426444.1_RNA|RP11-634B7.4_ENST00000449298.1_RNA			Q96R54	O14A2_HUMAN	olfactory receptor, family 14, subfamily A, member 2	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										CATATGTTTTCTGCAGCAACC	0.403																																																	0																																										SO:0001583	missense	388761			AB065620		1q44	2013-01-16	2008-04-02	2008-04-02	ENSG00000241128	ENSG00000241128		"""GPCR / Class A : Olfactory receptors"""	15024	other	unknown			"""olfactory receptor, family 5, subfamily AX, member 1 pseudogene"", ""olfactory receptor, family 5, subfamily AX, member 1"""	OR5AX1P, OR5AX1			Standard	NG_002409		Approved			Q96R54	OTTHUMG00000040207	ENST00000366485.1:c.912G>T	1.37:g.247886434C>A	ENSP00000355441:p.Gln304His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q304H	ENST00000366485.1	37	c.912		1	.	.	.	.	.	.	.	.	.	.	C	1.297	-0.605885	0.03717	.	.	ENSG00000241128	ENST00000366485	T	0.37235	1.21	2.24	-4.47	0.03525	.	10.006300	0.00815	U	0.001526	T	0.27967	0.0689	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17319	-1.0373	7	0.37606	T	0.19	.	6.7258	0.23355	0.1435:0.5368:0.0:0.3197	.	.	.	.	H	304	ENSP00000355441:Q304H	ENSP00000355441:Q304H	Q	-	3	2	OR14A2	245953057	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.223000	0.09177	-1.472000	0.01883	-0.247000	0.11927	CAG	OR14A2	-	NULL		0.403	OR14A2-001	KNOWN	basic|appris_principal	protein_coding	OR14A2	HGNC	protein_coding	OTTHUMT00000096864.1	C	NG_002409		247886434	-1	no_errors	ENST00000366485	ensembl	human	known	70_37	missense	SNP	0.000	A
OR1A2	26189	genome.wustl.edu	37	17	3101385	3101385	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:3101385C>T	ENST00000381951.1	+	1	573	c.573C>T	c.(571-573)gaC>gaT	p.D191D		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	191					positive regulation of cytokinesis (GO:0032467)	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(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CCTGTTCTGACGTCCACTTTA	0.453																																																	0													216.0	172.0	187.0					17																	3101385		2203	4300	6503	SO:0001819	synonymous_variant	26189			AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.573C>T	17.37:g.3101385C>T			Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D191	ENST00000381951.1	37	c.573	CCDS11021.1	17																																																																																			OR1A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.453	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A2	HGNC	protein_coding	OTTHUMT00000207293.1	C	NM_012352		3101385	+1	no_errors	ENST00000381951	ensembl	human	known	70_37	silent	SNP	0.116	T
OR1C1	26188	genome.wustl.edu	37	1	247920819	247920819	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:247920819A>G	ENST00000408896.2	-	1	1163	c.890T>C	c.(889-891)aTg>aCg	p.M297T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	297					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCCCCTCTTCATATCCCTGTT	0.428																																																	0													146.0	135.0	138.0					1																	247920819		1913	4141	6054	SO:0001583	missense	26188			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.890T>C	1.37:g.247920819A>G	ENSP00000386138:p.Met297Thr		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M297T	ENST00000408896.2	37	c.890	CCDS41481.1	1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811522	0.32053	.	.	ENSG00000221888	ENST00000408896	T	0.37411	1.2	3.22	3.22	0.36961	.	.	.	.	.	T	0.50497	0.1619	M	0.65975	2.015	0.09310	N	1	P	0.51933	0.949	P	0.55545	0.778	T	0.38929	-0.9638	9	0.87932	D	0	.	11.6139	0.51078	1.0:0.0:0.0:0.0	.	297	Q15619	OR1C1_HUMAN	T	297	ENSP00000386138:M297T	ENSP00000386138:M297T	M	-	2	0	OR1C1	245987442	0.038000	0.19896	0.245000	0.24217	0.177000	0.22998	3.374000	0.52402	1.466000	0.48025	0.482000	0.46254	ATG	OR1C1	-	prints_GPCR_Rhodpsn		0.428	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	HGNC	protein_coding	OTTHUMT00000096855.1	A			247920819	-1	no_errors	ENST00000408896	ensembl	human	known	70_37	missense	SNP	0.092	G
OR1G1	8390	genome.wustl.edu	37	17	3030623	3030623	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:3030623A>G	ENST00000328890.2	-	1	252	c.223T>C	c.(223-225)Tcc>Ccc	p.S75P		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	75					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ACTGTGGTGGACACAAAGCAG	0.453																																					Colon(127;1481 1654 8243 19426 50557)												0													98.0	86.0	90.0					17																	3030623		2203	4300	6503	SO:0001583	missense	8390			U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.223T>C	17.37:g.3030623A>G	ENSP00000331545:p.Ser75Pro		Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S75P	ENST00000328890.2	37	c.223	CCDS11020.1	17	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207825	0.58343	.	.	ENSG00000183024	ENST00000328890	T	0.00408	7.54	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01976	0.0062	H	0.95917	3.74	0.26357	N	0.977115	D	0.76494	0.999	D	0.71414	0.973	T	0.11891	-1.0569	9	0.87932	D	0	.	12.7129	0.57100	1.0:0.0:0.0:0.0	.	75	P47890	OR1G1_HUMAN	P	75	ENSP00000331545:S75P	ENSP00000331545:S75P	S	-	1	0	OR1G1	2977373	0.002000	0.14202	0.329000	0.25429	0.989000	0.77384	0.026000	0.13599	1.866000	0.54105	0.432000	0.28606	TCC	OR1G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.453	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1G1	HGNC	protein_coding	OTTHUMT00000207206.2	A			3030623	-1	no_errors	ENST00000328890	ensembl	human	known	70_37	missense	SNP	0.601	G
OR1E1	8387	genome.wustl.edu	37	17	3301095	3301095	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:3301095C>A	ENST00000322608.2	-	1	609	c.610G>T	c.(610-612)Ggg>Tgg	p.G204W		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	204					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						AGAATGAGCCCTCCCATGATA	0.468																																																	0													43.0	44.0	44.0					17																	3301095		2203	4298	6501	SO:0001583	missense	8387			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.610G>T	17.37:g.3301095C>A	ENSP00000313384:p.Gly204Trp		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G204W	ENST00000322608.2	37	c.610	CCDS11024.1	17	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375970	0.24857	.	.	ENSG00000180016	ENST00000322608	T	0.38401	1.14	4.69	0.0529	0.14304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.59918	0.2229	H	0.94658	3.565	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.48906	-0.8993	10	0.37606	T	0.19	.	3.7146	0.08433	0.2687:0.4741:0.0:0.2571	.	204	P30953	OR1E1_HUMAN	W	204	ENSP00000313384:G204W	ENSP00000313384:G204W	G	-	1	0	OR1E1	3247845	0.000000	0.05858	0.207000	0.23584	0.421000	0.31385	-0.256000	0.08757	0.202000	0.20498	0.591000	0.81541	GGG	OR1E1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.468	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E1	HGNC	protein_coding	OTTHUMT00000207303.1	C	NM_003553		3301095	-1	no_errors	ENST00000322608	ensembl	human	known	70_37	missense	SNP	0.001	A
OR2M3	127062	genome.wustl.edu	37	1	248366705	248366705	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:248366705C>A	ENST00000456743.1	+	1	374	c.336C>A	c.(334-336)tgC>tgA	p.C112*		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTCTGAGTGCTTTCTTTTGG	0.453																																																	0													244.0	250.0	248.0					1																	248366705		2203	4300	6503	SO:0001587	stop_gained	127062				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.336C>A	1.37:g.248366705C>A	ENSP00000389625:p.Cys112*		B9EH06|Q6IEY0	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.C112*	ENST00000456743.1	37	c.336	CCDS31107.1	1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803737	0.31869	.	.	ENSG00000228198	ENST00000456743	.	.	.	2.55	-3.47	0.04753	.	0.232054	0.22181	U	0.063508	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.348	0.43918	0.0:0.1887:0.0:0.8113	.	.	.	.	X	112	.	ENSP00000389625:C112X	C	+	3	2	OR2M3	246433328	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.702000	0.00103	-0.750000	0.04740	-1.475000	0.01000	TGC	OR2M3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.453	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M3	HGNC	protein_coding	OTTHUMT00000097355.1	C	NM_001004689		248366705	+1	no_errors	ENST00000456743	ensembl	human	known	70_37	nonsense	SNP	0.000	A
OR2M4	26245	genome.wustl.edu	37	1	248402760	248402760	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:248402760T>G	ENST00000306687.1	+	1	530	c.530T>G	c.(529-531)tTt>tGt	p.F177C		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	177					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTCATCACTTTTTCTGTGAT	0.428																																																	0													137.0	130.0	133.0					1																	248402760		2203	4300	6503	SO:0001583	missense	26245			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.530T>G	1.37:g.248402760T>G	ENSP00000306688:p.Phe177Cys		Q15611|Q8NG82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F177C	ENST00000306687.1	37	c.530	CCDS31108.1	1	.	.	.	.	.	.	.	.	.	.	t	13.22	2.172657	0.38413	.	.	ENSG00000171180	ENST00000306687	T	0.00344	8.02	3.25	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000591	T	0.00875	0.0029	M	0.91717	3.235	0.18873	N	0.999989	D	0.89917	1.0	D	0.97110	1.0	T	0.26744	-1.0094	10	0.87932	D	0	.	6.8929	0.24241	0.2066:0.0:0.0:0.7934	.	177	Q96R27	OR2M4_HUMAN	C	177	ENSP00000306688:F177C	ENSP00000306688:F177C	F	+	2	0	OR2M4	246469383	0.104000	0.21937	0.971000	0.41717	0.974000	0.67602	0.139000	0.16036	1.459000	0.47892	0.443000	0.29094	TTT	OR2M4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.428	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M4	HGNC	protein_coding	OTTHUMT00000097352.1	T	NM_017504		248402760	+1	no_errors	ENST00000306687	ensembl	human	known	70_37	missense	SNP	0.399	G
OR2M5	127059	genome.wustl.edu	37	1	248308725	248308725	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:248308725T>G	ENST00000366476.1	+	1	276	c.276T>G	c.(274-276)atT>atG	p.I92M		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCAAGTCCATTTCTATGGCTG	0.463																																																	0													310.0	305.0	306.0					1																	248308725		2203	4300	6503	SO:0001583	missense	127059				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.276T>G	1.37:g.248308725T>G	ENSP00000355432:p.Ile92Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I92M	ENST00000366476.1	37	c.276	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	t	10.78	1.447252	0.25987	.	.	ENSG00000162727	ENST00000366476	T	0.00478	7.13	3.05	-6.11	0.02131	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32473	U	0.006047	T	0.00666	0.0022	M	0.88512	2.96	0.09310	N	1	D	0.56968	0.978	P	0.49332	0.607	T	0.04268	-1.0964	10	0.87932	D	0	.	6.2423	0.20797	0.2399:0.4926:0.0:0.2675	.	92	A3KFT3	OR2M5_HUMAN	M	92	ENSP00000355432:I92M	ENSP00000355432:I92M	I	+	3	3	OR2M5	246375348	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-3.412000	0.00480	-2.144000	0.00802	-1.967000	0.00467	ATT	OR2M5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.463	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	T	NM_001004690		248308725	+1	no_errors	ENST00000366476	ensembl	human	known	70_37	missense	SNP	0.014	G
OR2M4	26245	genome.wustl.edu	37	1	248402986	248402986	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:248402986C>T	ENST00000306687.1	+	1	756	c.756C>T	c.(754-756)taC>taT	p.Y252Y		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	252					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GACTCTACTACGGTGCTGCTA	0.542																																																	0													123.0	109.0	114.0					1																	248402986		2203	4300	6503	SO:0001819	synonymous_variant	26245			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.756C>T	1.37:g.248402986C>T			Q15611|Q8NG82	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y252	ENST00000306687.1	37	c.756	CCDS31108.1	1																																																																																			OR2M4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M4	HGNC	protein_coding	OTTHUMT00000097352.1	C	NM_017504		248402986	+1	no_errors	ENST00000306687	ensembl	human	known	70_37	silent	SNP	0.375	T
OR2T10	127069	genome.wustl.edu	37	1	248756811	248756811	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:248756811C>G	ENST00000330500.2	-	1	289	c.259G>C	c.(259-261)Gcc>Ccc	p.A87P	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGTCTTTGGCCAGCTGGTTC	0.502																																																	0													63.0	74.0	70.0					1																	248756811		2038	4235	6273	SO:0001583	missense	127069				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.259G>C	1.37:g.248756811C>G	ENSP00000329210:p.Ala87Pro		B2RNK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A87P	ENST00000330500.2	37	c.259	CCDS31121.1	1	.	.	.	.	.	.	.	.	.	.	.	5.048	0.194475	0.09599	.	.	ENSG00000184022	ENST00000330500	T	0.01359	4.98	2.34	-2.86	0.05717	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01061	0.0035	L	0.28054	0.825	0.09310	N	1	P	0.37955	0.612	B	0.36335	0.222	T	0.47509	-0.9112	9	0.36615	T	0.2	.	3.9251	0.09261	0.1683:0.3463:0.0:0.4853	.	87	Q8NGZ9	O2T10_HUMAN	P	87	ENSP00000329210:A87P	ENSP00000329210:A87P	A	-	1	0	OR2T10	246823434	0.000000	0.05858	0.003000	0.11579	0.615000	0.37417	-7.715000	0.00031	-0.187000	0.10516	0.441000	0.28932	GCC	OR2T10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	C	NM_001004693		248756811	-1	no_errors	ENST00000330500	ensembl	human	known	70_37	missense	SNP	0.000	G
OR4C3	256144	genome.wustl.edu	37	11	48346655	48346655	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:48346655G>A	ENST00000319856.4	+	1	184	c.163G>A	c.(163-165)Gtc>Atc	p.V55I		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	28						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCTCTTTGTGGTCTTTTTGCT	0.463																																																	0													148.0	129.0	136.0					11																	48346655		2201	4298	6499	SO:0001583	missense	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.163G>A	11.37:g.48346655G>A	ENSP00000321419:p.Val55Ile		B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V55I	ENST00000319856.4	37	c.163	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263436	0.23051	.	.	ENSG00000176547	ENST00000319856	T	0.02916	4.11	5.88	-8.13	0.01073	.	1.321480	0.05382	N	0.537370	T	0.01765	0.0056	L	0.28192	0.835	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.46345	-0.9198	10	0.24483	T	0.36	.	1.9969	0.03459	0.171:0.3336:0.158:0.3375	.	28	Q8NH37	OR4C3_HUMAN	I	55	ENSP00000321419:V55I	ENSP00000321419:V55I	V	+	1	0	OR4C3	48303231	0.000000	0.05858	0.000000	0.03702	0.805000	0.45488	-3.040000	0.00633	-1.608000	0.01587	-0.309000	0.09137	GTC	OR4C3	-	prints_GPCR_Rhodpsn		0.463	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	G	NM_001004702		48346655	+1	no_errors	ENST00000319856	ensembl	human	known	70_37	missense	SNP	0.000	A
OR4N4	283694	genome.wustl.edu	37	15	22382811	22382811	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:22382811A>G	ENST00000328795.4	+	1	430	c.339A>G	c.(337-339)ttA>ttG	p.L113L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	113						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)		GGGAGGGATTACTCCTTGTTG	0.507																																																	0													82.0	75.0	77.0					15																	22382811		2195	4262	6457	SO:0001819	synonymous_variant	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.339A>G	15.37:g.22382811A>G			Q6IEY3|Q6IF56	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L113	ENST00000328795.4	37	c.339	CCDS32173.1	15																																																																																			OR4N4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.507	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	A			22382811	+1	no_errors	ENST00000328795	ensembl	human	known	70_37	silent	SNP	0.001	G
OR52I1	390037	genome.wustl.edu	37	11	4615380	4615380	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:4615380A>C	ENST00000530443.2	+	1	112	c.112A>C	c.(112-114)Atg>Ctg	p.M38L	OR52I1_ENST00000450052.2_Missense_Mutation_p.M62L	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGAGTGCCATGTACATCAC	0.507																																																	0													155.0	100.0	118.0					11																	4615380		2201	4284	6485	SO:0001583	missense	390037			BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.112A>C	11.37:g.4615380A>C	ENSP00000436453:p.Met38Leu		Q6IF91	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M38L	ENST00000530443.2	37	c.112	CCDS59223.1	11	.	.	.	.	.	.	.	.	.	.	A	12.07	1.828291	0.32329	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.03065	4.06;4.06	4.93	4.93	0.64822	.	0.234727	0.29900	N	0.010910	T	0.04272	0.0118	L	0.35793	1.09	0.22435	N	0.999106	B	0.32245	0.361	B	0.30495	0.116	T	0.26780	-1.0093	9	0.46703	T	0.11	-6.9278	12.8836	0.58030	1.0:0.0:0.0:0.0	.	38	Q8NGK6	O52I1_HUMAN	L	62;38	ENSP00000409094:M62L;ENSP00000436453:M38L	ENSP00000409094:M62L	M	+	1	0	OR52I1	4571956	0.641000	0.27251	0.896000	0.35187	0.739000	0.42172	0.117000	0.15583	2.212000	0.71576	0.454000	0.30748	ATG	OR52I1	-	prints_GPCR_Rhodpsn		0.507	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52I1	HGNC	protein_coding	OTTHUMT00000385947.2	A	NM_001005169		4615380	+1	no_errors	ENST00000530443	ensembl	human	putative	70_37	missense	SNP	0.976	C
OR51S1	119692	genome.wustl.edu	37	11	4869575	4869575	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:4869575G>T	ENST00000322101.2	-	1	939	c.864C>A	c.(862-864)ttC>ttA	p.F288L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGAAGAAGGAAATGGACAT	0.448																																																	0													143.0	131.0	135.0					11																	4869575		2201	4298	6499	SO:0001583	missense	119692			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.864C>A	11.37:g.4869575G>T	ENSP00000322754:p.Phe288Leu		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F288L	ENST00000322101.2	37	c.864	CCDS31362.1	11	.	.	.	.	.	.	.	.	.	.	G	3.617	-0.078402	0.07184	.	.	ENSG00000176922	ENST00000322101	T	0.35789	1.29	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000183	T	0.15782	0.0380	N	0.04508	-0.205	0.33853	D	0.632902	B	0.25007	0.116	B	0.22601	0.04	T	0.10660	-1.0620	10	0.02654	T	1	-27.026	14.052	0.64742	0.0:0.1521:0.8479:0.0	.	288	Q8NGJ8	O51S1_HUMAN	L	288	ENSP00000322754:F288L	ENSP00000322754:F288L	F	-	3	2	OR51S1	4826151	0.011000	0.17503	1.000000	0.80357	0.329000	0.28539	0.002000	0.13061	2.729000	0.93468	0.655000	0.94253	TTC	OR51S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1	G	NM_001004758		4869575	-1	no_errors	ENST00000322101	ensembl	human	known	70_37	missense	SNP	1.000	T
OR51S1	119692	genome.wustl.edu	37	11	4869592	4869592	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:4869592G>T	ENST00000322101.2	-	1	922	c.847C>A	c.(847-849)Cta>Ata	p.L283I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACATAGGATAGAAGAGTATGG	0.448																																																	0													138.0	125.0	129.0					11																	4869592		2201	4298	6499	SO:0001583	missense	119692			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.847C>A	11.37:g.4869592G>T	ENSP00000322754:p.Leu283Ile		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L283I	ENST00000322101.2	37	c.847	CCDS31362.1	11	.	.	.	.	.	.	.	.	.	.	G	9.305	1.054064	0.19907	.	.	ENSG00000176922	ENST00000322101	T	0.36520	1.25	5.25	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.172404	0.28011	N	0.016952	T	0.30696	0.0773	L	0.39326	1.205	0.26386	N	0.976656	D	0.53312	0.959	P	0.47251	0.542	T	0.14392	-1.0474	10	0.33940	T	0.23	-18.5437	6.6874	0.23152	0.0849:0.0:0.6409:0.2742	.	283	Q8NGJ8	O51S1_HUMAN	I	283	ENSP00000322754:L283I	ENSP00000322754:L283I	L	-	1	2	OR51S1	4826168	0.005000	0.15991	1.000000	0.80357	0.060000	0.15804	0.052000	0.14163	2.729000	0.93468	0.655000	0.94253	CTA	OR51S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1	G	NM_001004758		4869592	-1	no_errors	ENST00000322101	ensembl	human	known	70_37	missense	SNP	0.890	T
OR52A5	390054	genome.wustl.edu	37	11	5153659	5153659	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:5153659C>A	ENST00000307388.1	-	1	213	c.214G>T	c.(214-216)Gac>Tac	p.D72Y		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	72					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D72Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGTGCAATGTCTGTGGCTGCC	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											72.0	71.0	71.0					11																	5153659		2201	4298	6499	SO:0001583	missense	390054			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.214G>T	11.37:g.5153659C>A	ENSP00000303469:p.Asp72Tyr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D72Y	ENST00000307388.1	37	c.214	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301687	0.40694	.	.	ENSG00000171944	ENST00000307388	T	0.68025	-0.3	5.22	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000242	D	0.89343	0.6688	H	0.99435	4.565	0.46749	D	0.999188	D	0.89917	1.0	D	0.75484	0.986	D	0.93481	0.6827	10	0.87932	D	0	.	14.0676	0.64839	0.1518:0.8482:0.0:0.0	.	72	Q9H2C5	O52A5_HUMAN	Y	72	ENSP00000303469:D72Y	ENSP00000303469:D72Y	D	-	1	0	OR52A5	5110235	0.997000	0.39634	0.998000	0.56505	0.135000	0.20990	3.597000	0.54031	1.408000	0.46895	0.655000	0.94253	GAC	OR52A5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.373	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	HGNC	protein_coding	OTTHUMT00000142823.1	C	NM_001005160		5153659	-1	no_errors	ENST00000307388	ensembl	human	known	70_37	missense	SNP	1.000	A
OR51I1	390063	genome.wustl.edu	37	11	5462433	5462433	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:5462433G>T	ENST00000380211.1	-	1	311	c.312C>A	c.(310-312)ttC>ttA	p.F104L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	104					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGATGAAGAACATCTGGA	0.453																																																	0													142.0	122.0	129.0					11																	5462433		2201	4297	6498	SO:0001583	missense	390063			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.312C>A	11.37:g.5462433G>T	ENSP00000369559:p.Phe104Leu		B9EKW2|Q6IF33	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F104L	ENST00000380211.1	37	c.312	CCDS31382.1	11	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867104	0.72065	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.05382	3.45	5.64	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.25457	0.0619	M	0.88704	2.975	0.33243	D	0.557427	D	0.58268	0.982	D	0.67548	0.952	T	0.41106	-0.9527	10	0.72032	D	0.01	.	8.6062	0.33775	0.237:0.0:0.763:0.0	.	104	Q9H343	O51I1_HUMAN	L	89;101;104	ENSP00000369559:F104L	ENSP00000348350:F89L	F	-	3	2	OR51I1	5419009	0.000000	0.05858	1.000000	0.80357	0.893000	0.52053	-0.416000	0.07097	0.748000	0.32831	0.551000	0.68910	TTC	OR51I1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.453	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I1	HGNC	protein_coding	OTTHUMT00000143399.1	G	NM_001005288		5462433	-1	no_errors	ENST00000380211	ensembl	human	known	70_37	missense	SNP	1.000	T
OR52N4	390072	genome.wustl.edu	37	11	5775987	5775987	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:5775987A>C	ENST00000317254.3	+	1	65	c.17A>C	c.(16-18)aAa>aCa	p.K6T	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		ACACTGAATAAAACAGACCTA	0.368																																																	0													94.0	90.0	91.0					11																	5775987		1856	4101	5957	SO:0001583	missense	390072			AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.17A>C	11.37:g.5775987A>C	ENSP00000323224:p.Lys6Thr		B2RNP8|Q6IF77	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K6T	ENST00000317254.3	37	c.17	CCDS44528.1	11	.	.	.	.	.	.	.	.	.	.	A	10.80	1.451777	0.26074	.	.	ENSG00000181074	ENST00000317254	T	0.36520	1.25	5.41	4.27	0.50696	.	0.883634	0.09619	N	0.777857	T	0.13543	0.0328	N	0.03930	-0.32	0.18873	N	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.36407	-0.9749	10	0.10377	T	0.69	.	2.7489	0.05274	0.6328:0.0:0.1685:0.1987	.	6	Q8NGI2	O52N4_HUMAN	T	6	ENSP00000323224:K6T	ENSP00000323224:K6T	K	+	2	0	OR52N4	5732563	0.000000	0.05858	0.885000	0.34714	0.354000	0.29330	-0.033000	0.12246	2.282000	0.76494	0.451000	0.29950	AAA	OR52N4	-	NULL		0.368	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N4	HGNC	protein_coding	OTTHUMT00000143350.1	A	NM_001005175		5775987	+1	no_errors	ENST00000317254	ensembl	human	known	70_37	missense	SNP	0.481	C
OR52E4	390081	genome.wustl.edu	37	11	5905772	5905772	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:5905772C>A	ENST00000316987.2	+	1	272	c.250C>A	c.(250-252)Cta>Ata	p.L84I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAAAATGCTAGGAATCTT	0.443																																																	0													131.0	115.0	120.0					11																	5905772		2201	4296	6497	SO:0001583	missense	390081			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.250C>A	11.37:g.5905772C>A	ENSP00000321426:p.Leu84Ile		Q6IFG0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L84I	ENST00000316987.2	37	c.250	CCDS31401.1	11	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505844	0.64410	.	.	ENSG00000180974	ENST00000316987	T	0.00438	7.42	5.04	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001527	T	0.00967	0.0032	M	0.79805	2.47	0.32932	D	0.517218	D	0.53151	0.958	P	0.62184	0.899	T	0.38757	-0.9646	10	0.72032	D	0.01	.	9.8432	0.41010	0.0:0.8682:0.0:0.1318	.	84	Q8NGH9	O52E4_HUMAN	I	84	ENSP00000321426:L84I	ENSP00000321426:L84I	L	+	1	2	OR52E4	5862348	0.989000	0.36119	1.000000	0.80357	0.856000	0.48823	0.297000	0.19101	0.999000	0.39023	0.643000	0.83706	CTA	OR52E4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.443	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E4	HGNC	protein_coding	OTTHUMT00000401146.1	C	NM_001005165		5905772	+1	no_errors	ENST00000316987	ensembl	human	known	70_37	missense	SNP	1.000	A
OR52L1	338751	genome.wustl.edu	37	11	6007367	6007367	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:6007367A>G	ENST00000332249.4	-	1	848	c.794T>C	c.(793-795)gTc>gCc	p.V265A		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCAGGATGACACAAATATG	0.498																																					Melanoma(121;653 1666 10547 22796 51255)												0													144.0	143.0	144.0					11																	6007367		2082	4230	6312	SO:0001583	missense	338751			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.794T>C	11.37:g.6007367A>G	ENSP00000330338:p.Val265Ala		B2RPA6|Q6IFK9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V265A	ENST00000332249.4	37	c.794	CCDS44529.1	11	.	.	.	.	.	.	.	.	.	.	A	9.103	1.004729	0.19199	.	.	ENSG00000183313	ENST00000332249	T	0.00237	8.47	3.95	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39544	N	0.001339	T	0.00328	0.0010	L	0.33792	1.035	0.31019	N	0.718358	D	0.69078	0.997	D	0.79108	0.992	T	0.70204	-0.4936	10	0.31617	T	0.26	.	11.9438	0.52915	1.0:0.0:0.0:0.0	.	265	Q8NGH7	O52L1_HUMAN	A	265	ENSP00000330338:V265A	ENSP00000330338:V265A	V	-	2	0	OR52L1	5963943	0.004000	0.15560	0.990000	0.47175	0.032000	0.12392	1.566000	0.36396	1.558000	0.49541	0.260000	0.18958	GTC	OR52L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	HGNC	protein_coding	OTTHUMT00000383754.1	A	NM_001005173		6007367	-1	no_errors	ENST00000332249	ensembl	human	known	70_37	missense	SNP	1.000	G
OR4X2	119764	genome.wustl.edu	37	11	48267500	48267500	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:48267500G>T	ENST00000302329.3	+	1	893	c.845G>T	c.(844-846)aGa>aTa	p.R282I		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TACTCTCTGAGAAATGCTGAA	0.453																																																	0													112.0	105.0	107.0					11																	48267500		2201	4298	6499	SO:0001583	missense	119764			AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.845G>T	11.37:g.48267500G>T	ENSP00000307751:p.Arg282Ile		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R282I	ENST00000302329.3	37	c.845	CCDS31486.1	11	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570478	0.65765	.	.	ENSG00000172208	ENST00000302329	T	0.39056	1.1	5.47	4.56	0.56223	.	0.000000	0.64402	D	0.000014	T	0.69824	0.3154	M	0.91300	3.195	0.41670	D	0.989234	D	0.89917	1.0	D	0.91635	0.999	T	0.76979	-0.2758	10	0.87932	D	0	.	12.0266	0.53373	0.0838:0.0:0.9162:0.0	.	282	Q8NGF9	OR4X2_HUMAN	I	282	ENSP00000307751:R282I	ENSP00000307751:R282I	R	+	2	0	OR4X2	48224076	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	4.612000	0.61169	1.302000	0.44855	0.650000	0.86243	AGA	OR4X2	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.453	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X2	HGNC	protein_coding	OTTHUMT00000383376.2	G	NM_001004727		48267500	+1	no_errors	ENST00000302329	ensembl	human	known	70_37	missense	SNP	0.998	T
OR5D18	219438	genome.wustl.edu	37	11	55587477	55587477	+	Silent	SNP	C	C	T	rs373726185		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:55587477C>T	ENST00000333976.4	+	1	392	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATGACCGCTTCGTGGCCATTT	0.458																																																	0								C		0,4400		0,0,2200	172.0	164.0	166.0		372	-7.0	0.0	11		166	1,8591		0,1,4295	no	coding-synonymous	OR5D18	NM_001001952.1		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		124/314	55587477	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	219438			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.372C>T	11.37:g.55587477C>T			Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F124	ENST00000333976.4	37	c.372	CCDS31510.1	11																																																																																			OR5D18	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	HGNC	protein_coding	OTTHUMT00000391515.1	C	NM_001001952		55587477	+1	no_errors	ENST00000333976	ensembl	human	known	70_37	silent	SNP	0.616	T
OR5M11	219487	genome.wustl.edu	37	11	56309909	56309909	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:56309909G>T	ENST00000528616.2	-	1	848	c.825C>A	c.(823-825)gtC>gtA	p.V275V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGGTGTAAAAGACAGCTATTA	0.393																																																	0													95.0	90.0	91.0					11																	56309909		1888	4126	6014	SO:0001819	synonymous_variant	219487			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.825C>A	11.37:g.56309909G>T			B2RNL5|B2RNL7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V275	ENST00000528616.2	37	c.825	CCDS53629.1	11																																																																																			OR5M11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.393	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	HGNC	protein_coding	OTTHUMT00000391608.1	G	NM_001005245		56309909	-1	no_errors	ENST00000528616	ensembl	human	known	70_37	silent	SNP	0.981	T
OR5M11	219487	genome.wustl.edu	37	11	56310180	56310180	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:56310180T>G	ENST00000528616.2	-	1	577	c.554A>C	c.(553-555)aAg>aCg	p.K185T		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACAAGAAAGCTTAATGAGCGG	0.502																																																	0													50.0	51.0	51.0					11																	56310180		2069	4217	6286	SO:0001583	missense	219487			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.554A>C	11.37:g.56310180T>G	ENSP00000432417:p.Lys185Thr		B2RNL5|B2RNL7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K185T	ENST00000528616.2	37	c.554	CCDS53629.1	11	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068777	0.36470	.	.	ENSG00000255223	ENST00000528616	T	0.00267	8.38	5.0	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	M	0.74546	2.27	0.29424	N	0.860327	P	0.41188	0.741	B	0.42462	0.388	T	0.22800	-1.0206	9	0.35671	T	0.21	.	9.7019	0.40192	0.0:0.0827:0.0:0.9173	.	185	Q96RB7	OR5MB_HUMAN	T	185	ENSP00000432417:K185T	ENSP00000432417:K185T	K	-	2	0	OR5M11	56066756	0.000000	0.05858	0.959000	0.39883	0.921000	0.55340	-0.007000	0.12810	0.961000	0.38030	0.514000	0.50259	AAG	OR5M11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	HGNC	protein_coding	OTTHUMT00000391608.1	T	NM_001005245		56310180	-1	no_errors	ENST00000528616	ensembl	human	known	70_37	missense	SNP	1.000	G
OR5AN1	390195	genome.wustl.edu	37	11	59132047	59132047	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:59132047C>A	ENST00000313940.2	+	1	163	c.116C>A	c.(115-117)tCt>tAt	p.S39Y		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	39						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(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TACATTACATCTCTGGCCTGG	0.408																																																	0													181.0	164.0	170.0					11																	59132047		2201	4295	6496	SO:0001583	missense	390195			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.116C>A	11.37:g.59132047C>A	ENSP00000320302:p.Ser39Tyr		B9EIS2|Q6IEV4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S39Y	ENST00000313940.2	37	c.116	CCDS31559.1	11	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317306	0.23908	.	.	ENSG00000176495	ENST00000313940	T	0.00321	8.11	4.12	0.895	0.19247	.	0.793295	0.10965	N	0.614499	T	0.00241	0.0007	L	0.57536	1.79	0.09310	N	1	B	0.19200	0.034	B	0.11329	0.006	T	0.35748	-0.9776	10	0.87932	D	0	-2.7634	6.323	0.21229	0.0:0.3331:0.5094:0.1575	.	39	Q8NGI8	O5AN1_HUMAN	Y	39	ENSP00000320302:S39Y	ENSP00000320302:S39Y	S	+	2	0	OR5AN1	58888623	0.000000	0.05858	0.010000	0.14722	0.011000	0.07611	0.657000	0.24963	0.073000	0.16731	0.655000	0.94253	TCT	OR5AN1	-	prints_GPCR_Rhodpsn		0.408	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AN1	HGNC	protein_coding	OTTHUMT00000394231.1	C	NM_001004729		59132047	+1	no_errors	ENST00000313940	ensembl	human	known	70_37	missense	SNP	0.001	A
OR6C75	390323	genome.wustl.edu	37	12	55759219	55759219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:55759219G>T	ENST00000343399.3	+	1	325	c.325G>T	c.(325-327)Gaa>Taa	p.E109*		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGGGGTGACAGAATTTTACCT	0.448																																																	0													139.0	131.0	133.0					12																	55759219		2203	4300	6503	SO:0001587	stop_gained	390323				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.325G>T	12.37:g.55759219G>T	ENSP00000368987:p.Glu109*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E109*	ENST00000343399.3	37	c.325	CCDS31820.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367738	0.82463	.	.	ENSG00000187857	ENST00000343399	.	.	.	5.27	4.36	0.52297	.	0.000000	0.42053	U	0.000767	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.551	0.68068	0.0:0.1475:0.8525:0.0	.	.	.	.	X	109	.	ENSP00000368987:E109X	E	+	1	0	OR6C75	54045486	0.221000	0.23642	0.994000	0.49952	0.977000	0.68977	2.564000	0.45931	1.412000	0.46977	0.650000	0.86243	GAA	OR6C75	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C75	HGNC	protein_coding	OTTHUMT00000406418.1	G			55759219	+1	no_errors	ENST00000343399	ensembl	human	known	70_37	nonsense	SNP	0.735	T
OR6M1	390261	genome.wustl.edu	37	11	123676786	123676786	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:123676786G>T	ENST00000309154.2	-	1	309	c.272C>A	c.(271-273)tCt>tAt	p.S91Y		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ACCAGCAAAAGATATGGTTTT	0.438																																																	0													90.0	84.0	86.0					11																	123676786		2202	4299	6501	SO:0001583	missense	390261			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.272C>A	11.37:g.123676786G>T	ENSP00000311038:p.Ser91Tyr		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S91Y	ENST00000309154.2	37	c.272	CCDS31696.1	11	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291244	0.23564	.	.	ENSG00000196099	ENST00000309154	T	0.00745	5.75	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.268867	0.19764	U	0.106620	T	0.03608	0.0103	M	0.93638	3.44	0.09310	N	1	P	0.38148	0.62	P	0.45310	0.476	T	0.01424	-1.1358	10	0.87932	D	0	.	12.694	0.56992	0.0:0.0:1.0:0.0	.	91	Q8NGM8	OR6M1_HUMAN	Y	91	ENSP00000311038:S91Y	ENSP00000311038:S91Y	S	-	2	0	OR6M1	123181996	0.971000	0.33674	0.208000	0.23602	0.023000	0.10783	4.797000	0.62503	1.802000	0.52723	0.655000	0.94253	TCT	OR6M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6M1	HGNC	protein_coding	OTTHUMT00000387437.1	G	NM_001005325		123676786	-1	no_errors	ENST00000309154	ensembl	human	known	70_37	missense	SNP	0.162	T
OR7D2	162998	genome.wustl.edu	37	19	9296840	9296840	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9296840A>C	ENST00000344248.2	+	1	562	c.383A>C	c.(382-384)cAc>cCc	p.H128P		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	128					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GCTGTCTGCCACCCTCTGCAC	0.502																																																	0													166.0	155.0	159.0					19																	9296840		2203	4300	6503	SO:0001583	missense	162998			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.383A>C	19.37:g.9296840A>C	ENSP00000345563:p.His128Pro		Q6IFJ7|Q8N133	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H128P	ENST00000344248.2	37	c.383	CCDS32900.1	19	.	.	.	.	.	.	.	.	.	.	A	13.88	2.367961	0.42003	.	.	ENSG00000188000	ENST00000344248	T	0.00388	7.59	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	U	0.000763	T	0.00845	0.0028	M	0.93978	3.48	0.24770	N	0.992873	P	0.50156	0.932	P	0.55391	0.775	T	0.24083	-1.0170	10	0.87932	D	0	.	5.762	0.18205	0.7611:0.0:0.0:0.2389	.	128	Q96RA2	OR7D2_HUMAN	P	128	ENSP00000345563:H128P	ENSP00000345563:H128P	H	+	2	0	OR7D2	9157840	0.002000	0.14202	0.997000	0.53966	0.545000	0.35147	1.772000	0.38552	1.296000	0.44742	0.418000	0.28097	CAC	OR7D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.502	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	A			9296840	+1	no_errors	ENST00000344248	ensembl	human	known	70_37	missense	SNP	0.996	C
OR7E14P	10819	genome.wustl.edu	37	11	17074024	17074024	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:17074024C>A	ENST00000530490.1	+	0	816				AC116533.2_ENST00000583154.1_RNA					olfactory receptor, family 7, subfamily E, member 14 pseudogene																		ACCCATGTTTCTGTGGCTTTC	0.448																																																	0																																												10819			AF065856		11p15.1	2012-08-09			ENSG00000184669	ENSG00000184669		"""GPCR / Class A : Olfactory receptors"""	8385	pseudogene	pseudogene				OR7E151P		9787077	Standard	NR_045002		Approved	OR11-5	uc021qeh.1		OTTHUMG00000165955		11.37:g.17074024C>A				RNA	SNP	-	NULL	ENST00000530490.1	37	NULL		11																																																																																			OR7E14P	-	-		0.448	OR7E14P-002	KNOWN	basic	processed_transcript	OR7E14P	HGNC	pseudogene	OTTHUMT00000387319.1	C			17074024	+1	no_errors	ENST00000530490	ensembl	human	known	70_37	rna	SNP	0.175	A
OR7G3	390883	genome.wustl.edu	37	19	9237587	9237587	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9237587G>T	ENST00000305444.2	-	1	39	c.40C>A	c.(40-42)Ctc>Atc	p.L14I		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AATCCCAAGAGAAAGAATTCT	0.448																																																	0													62.0	65.0	64.0					19																	9237587		2203	4299	6502	SO:0001583	missense	390883				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.40C>A	19.37:g.9237587G>T	ENSP00000302867:p.Leu14Ile		Q6IFJ6|Q96R99	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L14I	ENST00000305444.2	37	c.40	CCDS32899.1	19	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069617	0.55539	.	.	ENSG00000170920	ENST00000305444	T	0.00561	6.59	4.16	4.16	0.48862	.	0.000000	0.37761	U	0.001955	T	0.02267	0.0070	M	0.82132	2.575	0.24603	N	0.993761	D	0.76494	0.999	D	0.70716	0.97	T	0.10894	-1.0610	10	0.87932	D	0	.	15.6367	0.76961	0.0:0.0:1.0:0.0	.	14	Q8NG95	OR7G3_HUMAN	I	14	ENSP00000302867:L14I	ENSP00000302867:L14I	L	-	1	0	OR7G3	9098587	0.330000	0.24705	0.115000	0.21578	0.003000	0.03518	1.112000	0.31172	2.338000	0.79540	0.558000	0.71614	CTC	OR7G3	-	NULL		0.448	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G3	HGNC	protein_coding	OTTHUMT00000384611.1	G			9237587	-1	no_errors	ENST00000305444	ensembl	human	known	70_37	missense	SNP	0.735	T
OR7E19P	26651	genome.wustl.edu	37	19	9376402	9376402	+	RNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9376402G>T	ENST00000588789.1	-	0	219									olfactory receptor, family 7, subfamily E, member 19 pseudogene																		CTAAATACATGAATATGTTAT	0.348																																																	0																																												26651					19p13.2	2014-03-20			ENSG00000225980	ENSG00000225980		"""GPCR / Class A : Olfactory receptors"""	8390	pseudogene	pseudogene				OR7E65			Standard	NG_002356		Approved	OR19-7			OTTHUMG00000179940		19.37:g.9376402G>T				RNA	SNP	-	NULL	ENST00000588789.1	37	NULL		19																																																																																			OR7E19P	-	-		0.348	OR7E19P-002	KNOWN	basic	processed_transcript	OR7E19P	HGNC	pseudogene	OTTHUMT00000449009.1	G			9376402	-1	no_errors	ENST00000588789	ensembl	human	known	70_37	rna	SNP	0.000	T
OR8U1	219417	genome.wustl.edu	37	11	56143423	56143423	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:56143423G>T	ENST00000302270.1	+	1	324	c.324G>T	c.(322-324)atG>atT	p.M108I		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M108I(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TCACCTTCATGATATCAGAAT	0.413																																																	1	Substitution - Missense(1)	ovary(1)											176.0	168.0	171.0					11																	56143423		2078	4244	6322	SO:0001583	missense	219417			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.324G>T	11.37:g.56143423G>T	ENSP00000304188:p.Met108Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M108I	ENST00000302270.1	37	c.324	CCDS41647.1	11	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.174182	0.00312	.	.	ENSG00000172199	ENST00000302270	T	0.00392	7.58	5.78	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.00109	0.0003	N	0.01505	-0.83	0.09310	N	1	B	0.19706	0.038	B	0.15484	0.013	T	0.47341	-0.9125	10	0.06757	T	0.87	.	3.6393	0.08161	0.14:0.1393:0.577:0.1438	.	108	Q8NH10	OR8U1_HUMAN	I	108	ENSP00000304188:M108I	ENSP00000304188:M108I	M	+	3	0	OR8U1	55899999	0.000000	0.05858	0.730000	0.30809	0.006000	0.05464	-0.290000	0.08354	2.743000	0.94032	0.643000	0.83706	ATG	OR8U1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.413	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8U1	HGNC	protein_coding	OTTHUMT00000391607.1	G	NM_001005204		56143423	+1	no_errors	ENST00000302270	ensembl	human	known	70_37	missense	SNP	0.003	T
ORAOV1	220064	genome.wustl.edu	37	11	69482387	69482387	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:69482387C>A	ENST00000535657.1	-	5	427				ORAOV1_ENST00000279147.4_Intron|ORAOV1_ENST00000539414.1_3'UTR|ORAOV1_ENST00000536870.1_Intron			Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1											NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TATTTTTAATCTTGTGCATTT	0.348																																																	0													56.0	62.0	60.0					11																	69482387		2200	4294	6494	SO:0001627	intron_variant	220064				CCDS8192.1	11q13.2	2010-11-23			ENSG00000149716	ENSG00000149716			17589	protein-coding gene	gene with protein product	"""oral cancer overexpressed protein 1-A"""	607224				12172009	Standard	NM_153451		Approved	TAOS1	uc001opc.3	Q8WV07		ENST00000535657.1:c.346-32G>T	11.37:g.69482387C>A			B2R4R2|Q8NFK0	RNA	SNP	-	NULL	ENST00000535657.1	37	NULL	CCDS8192.1	11																																																																																			ORAOV1	-	-		0.348	ORAOV1-009	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ORAOV1	HGNC	protein_coding	OTTHUMT00000396821.1	C	NM_153451		69482387	-1	no_errors	ENST00000537324	ensembl	human	putative	70_37	rna	SNP	0.000	A
OSBPL11	114885	genome.wustl.edu	37	3	125271449	125271449	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:125271449G>A	ENST00000296220.5	-	9	1519	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	410					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTATAAATAGGTCTGGATGAG	0.433																																																	0													123.0	117.0	119.0					3																	125271449		2203	4300	6503	SO:0001819	synonymous_variant	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1230C>T	3.37:g.125271449G>A			A8K9I7	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D410	ENST00000296220.5	37	c.1230	CCDS3033.1	3																																																																																			OSBPL11	-	pfam_Oxysterol-bd		0.433	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	G	NM_022776		125271449	-1	no_errors	ENST00000296220	ensembl	human	known	70_37	silent	SNP	1.000	A
OSBPL1A	114876	genome.wustl.edu	37	18	21746657	21746657	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:21746657A>C	ENST00000319481.3	-	26	2751	c.2545T>G	c.(2545-2547)Ttt>Gtt	p.F849V	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.F336V|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.F467V	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	849					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AAACTAGTAAAATTATACATC	0.378																																																	0													98.0	97.0	98.0					18																	21746657		2203	4300	6503	SO:0001583	missense	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2545T>G	18.37:g.21746657A>C	ENSP00000320291:p.Phe849Val		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.F849V	ENST00000319481.3	37	c.2545	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613456	0.46631	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.38560	1.13;1.13;1.13	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85776	0.1358	10	0.72032	D	0.01	-26.4489	16.2099	0.82148	1.0:0.0:0.0:0.0	.	849	Q9BXW6	OSBL1_HUMAN	V	849;336;467	ENSP00000320291:F849V;ENSP00000382372:F336V;ENSP00000349545:F467V	ENSP00000320291:F849V	F	-	1	0	OSBPL1A	20000655	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.188000	0.94921	2.289000	0.77006	0.477000	0.44152	TTT	OSBPL1A	-	pfam_Oxysterol-bd		0.378	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	A	NM_080597		21746657	-1	no_errors	ENST00000319481	ensembl	human	known	70_37	missense	SNP	1.000	C
OSBPL3	26031	genome.wustl.edu	37	7	24854690	24854690	+	Silent	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:24854690C>A	ENST00000313367.2	-	19	2611	c.2160G>T	c.(2158-2160)gtG>gtT	p.V720V	OSBPL3_ENST00000352860.1_Silent_p.V689V|OSBPL3_ENST00000431825.2_Silent_p.V653V|OSBPL3_ENST00000409069.1_Silent_p.V653V|OSBPL3_ENST00000353930.1_Silent_p.V684V|OSBPL3_ENST00000396431.1_Silent_p.V689V|OSBPL3_ENST00000396429.1_Silent_p.V684V|OSBPL3_ENST00000487020.1_5'UTR	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	720					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTATAAAATTCACTTTGCAGT	0.488																																																	0													176.0	178.0	177.0					7																	24854690		2203	4300	6503	SO:0001819	synonymous_variant	26031			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2160G>T	7.37:g.24854690C>A			A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V720	ENST00000313367.2	37	c.2160	CCDS5390.1	7																																																																																			OSBPL3	-	pfam_Oxysterol-bd		0.488	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	C			24854690	-1	no_errors	ENST00000313367	ensembl	human	known	70_37	silent	SNP	1.000	A
OSBPL5	114879	genome.wustl.edu	37	11	3125479	3125479	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:3125479C>T	ENST00000263650.7	-	10	1347	c.1188G>A	c.(1186-1188)ccG>ccA	p.P396P	OSBPL5_ENST00000348039.5_Silent_p.P328P|OSBPL5_ENST00000389989.3_Silent_p.P328P|OSBPL5_ENST00000542243.1_Silent_p.P27P|OSBPL5_ENST00000525498.1_Silent_p.P307P	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	396					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGAAGGAGCGCGGCTCCAGTA	0.622																																																	0													112.0	88.0	96.0					11																	3125479		2202	4298	6500	SO:0001819	synonymous_variant	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1188G>A	11.37:g.3125479C>T			A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	NULL	p.R112H	ENST00000263650.7	37	c.335	CCDS31344.1	11																																																																																			OSBPL5	-	NULL		0.622	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	C			3125479	-1	no_errors	ENST00000471998	ensembl	human	known	70_37	missense	SNP	0.005	T
OTC	5009	genome.wustl.edu	37	X	38211946	38211946	+	5'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:38211946G>T	ENST00000039007.4	+	0	149				OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase						ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	ACAATTAAAAGAAGATGCTGT	0.408																																																	0													130.0	107.0	115.0					X																	38211946		2202	4300	6502	SO:0001623	5_prime_UTR_variant	5009			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.-4G>T	X.37:g.38211946G>T			A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	RNA	SNP	-	NULL	ENST00000039007.4	37	NULL	CCDS14247.1	X																																																																																			OTC	-	-		0.408	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTC	HGNC	protein_coding	OTTHUMT00000059006.2	G			38211946	+1	no_errors	ENST00000488812	ensembl	human	known	70_37	rna	SNP	0.367	T
OTOGL	283310	genome.wustl.edu	37	12	80613628	80613628	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:80613628C>T	ENST00000547103.1	+	5	249	c.243C>T	c.(241-243)ttC>ttT	p.F81F	OTOGL_ENST00000458043.2_Silent_p.F81F			Q3ZCN5	OTOGL_HUMAN	otogelin-like	81					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATGGAGCTTTCTGTTCTAAGA	0.373																																																	0													72.0	65.0	67.0					12																	80613628		1812	4091	5903	SO:0001819	synonymous_variant	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.243C>T	12.37:g.80613628C>T			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.F81	ENST00000547103.1	37	c.243		12																																																																																			OTOGL	-	NULL		0.373	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	C	NM_173591		80613628	+1	no_errors	ENST00000458043	ensembl	human	known	70_37	silent	SNP	1.000	T
OTOGL	283310	genome.wustl.edu	37	12	80658837	80658837	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:80658837A>C	ENST00000547103.1	+	19	2050	c.2044A>C	c.(2044-2046)Atc>Ctc	p.I682L	OTOGL_ENST00000458043.2_Missense_Mutation_p.I682L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	682	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCCTTGCCACATCTATATTAG	0.488																																																	0													187.0	188.0	188.0					12																	80658837		2042	4210	6252	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2044A>C	12.37:g.80658837A>C	ENSP00000447211:p.Ile682Leu		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.I682L	ENST00000547103.1	37	c.2044		12	.	.	.	.	.	.	.	.	.	.	A	4.032	0.003478	0.07866	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.75821	-0.97;-0.97	6.17	-8.57	0.00900	.	.	.	.	.	T	0.37019	0.0988	N	0.01242	-0.935	0.09310	N	1	.	.	.	.	.	.	T	0.39522	-0.9610	7	0.27785	T	0.31	.	7.2424	0.26104	0.5242:0.0:0.2604:0.2154	.	.	.	.	L	682	ENSP00000447211:I682L;ENSP00000400895:I682L	ENSP00000400895:I682L	I	+	1	0	OTOGL	79182968	0.000000	0.05858	0.021000	0.16686	0.316000	0.28119	-0.398000	0.07259	-2.357000	0.00612	-0.242000	0.12053	ATC	OTOGL	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.488	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	A	NM_173591		80658837	+1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	0.060	C
OTOGL	283310	genome.wustl.edu	37	12	80764416	80764416	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:80764416A>C	ENST00000547103.1	+	55	6625	c.6619A>C	c.(6619-6621)Att>Ctt	p.I2207L	OTOGL_ENST00000458043.2_Missense_Mutation_p.I2219L|OTOGL_ENST00000546620.1_Missense_Mutation_p.I238L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2207					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGGAGCAATAATTCTGAACTA	0.313																																																	0													147.0	144.0	145.0					12																	80764416		2203	4300	6503	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6619A>C	12.37:g.80764416A>C	ENSP00000447211:p.Ile2207Leu		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.I2219L	ENST00000547103.1	37	c.6655		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.690|1.690	-0.504192|-0.504192	0.04261|0.04261	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182|ENST00000298820	T;T;T;T|.	0.44881|.	2.41;2.41;2.33;0.91|.	5.29|5.29	2.78|2.78	0.32641|0.32641	.|.	0.220694|.	0.37261|.	N|.	0.002169|.	T|.	0.24353|.	0.0590|.	N|N	0.26042|0.26042	0.785|0.785	0.23559|0.23559	N|N	0.99741|0.99741	B|.	0.10296|.	0.003|.	B|.	0.15052|.	0.012|.	T|.	0.19128|.	-1.0315|.	10|.	0.09084|.	T|.	0.74|.	.|.	4.6959|4.6959	0.12804|0.12804	0.63:0.1607:0.2093:0.0|0.63:0.1607:0.2093:0.0	.|.	584|.	Q3ZCN5|.	OTOGL_HUMAN|.	L|Y	2207;2219;238;236|626	ENSP00000447211:I2207L;ENSP00000400895:I2219L;ENSP00000449094:I238L;ENSP00000449641:I236L|.	ENSP00000400895:I2219L|.	I|X	+|+	1|3	0|2	OTOGL|OTOGL	79288547|79288547	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.587000|0.587000	0.36485|0.36485	2.031000|2.031000	0.41117|0.41117	0.857000|0.857000	0.35407|0.35407	0.482000|0.482000	0.46254|0.46254	ATT|TAA	OTOGL	-	NULL		0.313	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	A	NM_173591		80764416	+1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	0.938	C
OVOL2	58495	genome.wustl.edu	37	20	18038267	18038267	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:18038267G>T	ENST00000278780.6	-	1	254	c.12C>A	c.(10-12)gtC>gtA	p.V4V	RP4-726N1.2_ENST00000429853.1_RNA|OVOL2_ENST00000483661.1_Intron	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	4					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TCACCAGGAAGACTTTGGGCA	0.706																																																	0													34.0	30.0	31.0					20																	18038267		2201	4296	6497	SO:0001819	synonymous_variant	58495			AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.12C>A	20.37:g.18038267G>T			Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V4	ENST00000278780.6	37	c.12	CCDS13132.1	20																																																																																			OVOL2	-	NULL		0.706	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL2	HGNC	protein_coding	OTTHUMT00000078148.5	G	NM_021220		18038267	-1	no_errors	ENST00000278780	ensembl	human	known	70_37	silent	SNP	1.000	T
OXTR	5021	genome.wustl.edu	37	3	8794887	8794887	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:8794887G>A	ENST00000316793.3	-	4	1570	c.946C>T	c.(946-948)Ctc>Ttc	p.L316F	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	316					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	CTGGCCAGGAGCATGACGATG	0.572																																																	0													55.0	49.0	51.0					3																	8794887		2203	4300	6503	SO:0001583	missense	5021				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.946C>T	3.37:g.8794887G>A	ENSP00000324270:p.Leu316Phe		Q15071	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.L316F	ENST00000316793.3	37	c.946	CCDS2570.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286259	0.80803	.	.	ENSG00000180914	ENST00000316793	T	0.72615	-0.67	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83783	0.5329	M	0.75884	2.315	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.85531	0.1209	10	0.72032	D	0.01	-49.667	17.0133	0.86412	0.0:0.0:1.0:0.0	.	316	P30559	OXYR_HUMAN	F	316	ENSP00000324270:L316F	ENSP00000324270:L316F	L	-	1	0	OXTR	8769887	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.304000	0.59104	2.655000	0.90218	0.655000	0.94253	CTC	OXTR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn		0.572	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXTR	HGNC	protein_coding	OTTHUMT00000207061.2	G			8794887	-1	no_errors	ENST00000316793	ensembl	human	known	70_37	missense	SNP	1.000	A
P2RX1	5023	genome.wustl.edu	37	17	3802962	3802962	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:3802962C>T	ENST00000225538.3	-	8	1115	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	281					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TTTTTCTCTTCGTACAGCCCA	0.567																																																	0													98.0	87.0	91.0					17																	3802962		2203	4300	6503	SO:0001583	missense	5023			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.841G>A	17.37:g.3802962C>T	ENSP00000225538:p.Glu281Lys		Q9UK84	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.E281K	ENST00000225538.3	37	c.841	CCDS11040.1	17	.	.	.	.	.	.	.	.	.	.	C	8.852	0.944880	0.18356	.	.	ENSG00000108405	ENST00000225538	T	0.04156	3.69	5.37	5.37	0.77165	.	0.342930	0.33572	N	0.004770	T	0.04407	0.0121	N	0.16743	0.435	0.30038	N	0.812855	B	0.32829	0.386	B	0.28849	0.095	T	0.20605	-1.0270	10	0.40728	T	0.16	-4.9443	18.0887	0.89466	0.0:1.0:0.0:0.0	.	281	P51575	P2RX1_HUMAN	K	281	ENSP00000225538:E281K	ENSP00000225538:E281K	E	-	1	0	P2RX1	3749711	0.425000	0.25498	0.892000	0.35008	0.311000	0.27955	3.209000	0.51122	2.520000	0.84964	0.643000	0.83706	GAA	P2RX1	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.567	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX1	HGNC	protein_coding	OTTHUMT00000438391.1	C	NM_002558		3802962	-1	no_errors	ENST00000225538	ensembl	human	known	70_37	missense	SNP	0.936	T
P2RY13	53829	genome.wustl.edu	37	3	151046163	151046163	+	Missense_Mutation	SNP	A	A	C	rs150366287		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:151046163A>C	ENST00000325602.5	-	2	700	c.681T>G	c.(679-681)ttT>ttG	p.F227L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	227					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TAACCACATAAAACACAAGCA	0.353																																																	0								A	,LEU/PHE	0,4406		0,0,2203	67.0	73.0	71.0		,681	1.9	1.0	3	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense	P2RY13,MED12L	NM_053002.4,NM_176894.2	,22	0,2,6501	CC,CA,AA		0.0233,0.0,0.0154	,possibly-damaging	,227/355	151046163	2,13004	2203	4300	6503	SO:0001583	missense	53829			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.681T>G	3.37:g.151046163A>C	ENSP00000320376:p.Phe227Leu		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt	p.F227L	ENST00000325602.5	37	c.681	CCDS3158.2	3	.	.	.	.	.	.	.	.	.	.	A	16.13	3.036599	0.54896	0.0	2.33E-4	ENSG00000181631	ENST00000325602	T	0.34667	1.35	5.64	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.048619	0.85682	D	0.000000	T	0.42177	0.1191	L	0.59436	1.845	0.37592	D	0.920207	P	0.34909	0.475	P	0.47251	0.542	T	0.41734	-0.9492	10	0.48119	T	0.1	-16.8146	8.1079	0.30896	0.6435:0.0:0.3565:0.0	.	227	Q9BPV8	P2Y13_HUMAN	L	227	ENSP00000320376:F227L	ENSP00000320376:F227L	F	-	3	2	P2RY13	152528853	1.000000	0.71417	0.986000	0.45419	0.936000	0.57629	0.930000	0.28858	0.369000	0.24510	0.456000	0.33151	TTT	P2RY13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM		0.353	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1	A	NM_023914		151046163	-1	no_errors	ENST00000325602	ensembl	human	known	70_37	missense	SNP	0.999	C
P2RY12	64805	genome.wustl.edu	37	3	151056222	151056222	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:151056222G>T	ENST00000302632.3	-	3	711	c.412C>A	c.(412-414)Ctc>Atc	p.L138I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	138					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GCCCCCAAGAGATTTTTGGGG	0.423																																																	0													82.0	88.0	86.0					3																	151056222		2203	4300	6503	SO:0001583	missense	64805			AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.412C>A	3.37:g.151056222G>T	ENSP00000307259:p.Leu138Ile		D3DNJ5|Q546J7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_P2Y12_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_P2Y13_purnocptor,prints_UDPG_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L138I	ENST00000302632.3	37	c.412	CCDS3159.1	3	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116622	0.37339	.	.	ENSG00000169313	ENST00000302632	T	0.72394	-0.65	5.17	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.062168	0.64402	D	0.000003	T	0.57373	0.2049	L	0.27053	0.805	0.24018	N	0.996154	B	0.22480	0.07	B	0.25614	0.062	T	0.49624	-0.8920	10	0.35671	T	0.21	-32.2141	11.6934	0.51529	0.0:0.134:0.7268:0.1392	.	138	Q9H244	P2Y12_HUMAN	I	138	ENSP00000307259:L138I	ENSP00000307259:L138I	L	-	1	0	P2RY12	152538912	1.000000	0.71417	0.183000	0.23137	0.929000	0.56500	5.269000	0.65542	1.288000	0.44600	0.650000	0.86243	CTC	P2RY12	-	pfam_GPCR_Rhodpsn,prints_P2Y12_purnocptor,pfscan_GPCR_Rhodpsn_7TM		0.423	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY12	HGNC	protein_coding	OTTHUMT00000357796.1	G			151056222	-1	no_errors	ENST00000302632	ensembl	human	known	70_37	missense	SNP	0.207	T
P2RY8	286530	genome.wustl.edu	37	X	1584687	1584687	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:1584687G>A	ENST00000381297.4	-	2	975	c.765C>T	c.(763-765)ttC>ttT	p.F255F	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGGAGCACGAAGTTGTTGG	0.652			T	CRLF2	"""B-ALL, Downs associated ALL"""																																			Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	"""purinergic receptor P2Y, G-protein coupled, 8"""		L	0													69.0	66.0	67.0					X																	1584687		2203	4296	6499	SO:0001819	synonymous_variant	286530			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.765C>T	X.37:g.1584687G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt	p.F255	ENST00000381297.4	37	c.765	CCDS14115.1	X																																																																																			P2RY8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.652	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY8	HGNC	protein_coding	OTTHUMT00000055602.1	G	NM_178129		1584687	-1	no_errors	ENST00000381297	ensembl	human	known	70_37	silent	SNP	1.000	A
PABPC5	140886	genome.wustl.edu	37	X	90690779	90690779	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:90690779T>C	ENST00000312600.3	+	2	417	c.203T>C	c.(202-204)tTt>tCt	p.F68S	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	68	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AACTTCCGCTTTCCCGCGGAT	0.522																																																	0													38.0	31.0	33.0					X																	90690779		2203	4300	6503	SO:0001583	missense	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.203T>C	X.37:g.90690779T>C	ENSP00000308012:p.Phe68Ser		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.F68S	ENST00000312600.3	37	c.203	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	T	7.986	0.752141	0.15778	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.04360	3.64	4.29	4.29	0.51040	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.111999	0.64402	D	0.000007	T	0.01092	0.0036	N	0.00072	-2.265	0.39176	D	0.96268	B	0.25272	0.122	B	0.30855	0.121	T	0.49380	-0.8946	10	0.25106	T	0.35	.	6.3608	0.21427	0.2222:0.0:0.0:0.7778	.	68	Q96DU9	PABP5_HUMAN	S	68;36	ENSP00000308012:F68S	ENSP00000308012:F68S	F	+	2	0	PABPC5	90577435	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	2.715000	0.47210	1.907000	0.55213	0.486000	0.48141	TTT	PABPC5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.522	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	T	NM_080832		90690779	+1	no_errors	ENST00000312600	ensembl	human	known	70_37	missense	SNP	1.000	C
PACS1	55690	genome.wustl.edu	37	11	65977848	65977848	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:65977848C>A	ENST00000320580.4	+	3	493	c.460C>A	c.(460-462)Ctt>Att	p.L154I		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	154					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.L154I(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AAAAAGAATTCTTCGCTCCAA	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											133.0	118.0	123.0					11																	65977848		2201	4295	6496	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.460C>A	11.37:g.65977848C>A	ENSP00000316454:p.Leu154Ile		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.L154I	ENST00000320580.4	37	c.460	CCDS8129.1	11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356807	0.82243	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.57907	0.37	5.28	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.87456	2.885	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.80764	0.987;0.994	T	0.76063	-0.3096	10	0.87932	D	0	-10.7761	9.2592	0.37601	0.0:0.832:0.0:0.168	.	154;154	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	I	154;51;56	ENSP00000316454:L154I	ENSP00000316454:L154I	L	+	1	0	PACS1	65734424	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.896000	0.56266	1.228000	0.43614	0.585000	0.79938	CTT	PACS1	-	NULL		0.507	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2	C	NM_018026		65977848	+1	no_errors	ENST00000320580	ensembl	human	known	70_37	missense	SNP	1.000	A
PAK6	56924	genome.wustl.edu	37	15	40568273	40568273	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:40568273G>A	ENST00000542403.2	+	9	2135	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q	PAK6_ENST00000441369.1_Missense_Mutation_p.R675Q|PAK6_ENST00000455577.2_Missense_Mutation_p.R630Q|PAK6_ENST00000453867.1_Missense_Mutation_p.R675Q|PAK6_ENST00000260404.4_Missense_Mutation_p.R675Q|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.R675Q	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	675					apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CAGCTCTACCGAAAGCAGACC	0.652																																																	0													120.0	119.0	120.0					15																	40568273		2203	4300	6503	SO:0001583	missense	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.2024G>A	15.37:g.40568273G>A	ENSP00000439597:p.Arg675Gln		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	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.R675Q	ENST00000542403.2	37	c.2024	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949436	0.73787	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.75477	-0.94;-0.94;-0.84;-0.94;-0.94	4.48	3.57	0.40892	Protein kinase-like domain (1);	0.114883	0.64402	D	0.000015	T	0.79551	0.4465	L	0.45051	1.395	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	P;D	0.67548	0.671;0.952	T	0.81028	-0.1118	10	0.87932	D	0	.	12.4204	0.55518	0.081:0.0:0.919:0.0	.	675;630	Q9NQU5;G5E9R2	PAK6_HUMAN;.	Q	675;675;630;675;675	ENSP00000406873:R675Q;ENSP00000401153:R675Q;ENSP00000409465:R630Q;ENSP00000260404:R675Q;ENSP00000439597:R675Q	ENSP00000260404:R675Q	R	+	2	0	PAK6	38355565	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.631000	0.67812	1.112000	0.41740	0.561000	0.74099	CGA	PAK6	-	superfamily_Kinase-like_dom		0.652	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	G			40568273	+1	no_errors	ENST00000260404	ensembl	human	known	70_37	missense	SNP	1.000	A
PAN3	255967	genome.wustl.edu	37	13	28854578	28854578	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:28854578G>A	ENST00000380958.3	+	16	2371	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	PAN3_ENST00000282391.5_Missense_Mutation_p.R428Q|PAN3_ENST00000399613.1_Missense_Mutation_p.R540Q	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AACAGGATGCGAAGTGTAAAT	0.373																																																	0													142.0	124.0	130.0					13																	28854578		2203	4300	6503	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2219G>A	13.37:g.28854578G>A	ENSP00000370345:p.Arg740Gln			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom	p.R740Q	ENST00000380958.3	37	c.2219	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	G	36	5.847488	0.97023	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.36520	1.25;1.25;1.25	5.74	5.74	0.90152	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	L	0.61036	1.89	0.80722	D	1	D;P;D	0.67145	0.996;0.953;0.995	P;B;P	0.53593	0.73;0.272;0.585	T	0.51880	-0.8649	10	0.62326	D	0.03	-9.6192	20.2825	0.98528	0.0:0.0:1.0:0.0	.	740;428;686	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	Q	740;540;428	ENSP00000370345:R740Q;ENSP00000382522:R540Q;ENSP00000282391:R428Q	ENSP00000282391:R428Q	R	+	2	0	PAN3	27752578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.873000	0.98535	0.561000	0.74099	CGA	PAN3	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom		0.373	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	G	NM_175854		28854578	+1	no_errors	ENST00000380958	ensembl	human	known	70_37	missense	SNP	1.000	A
PAPPA	5069	genome.wustl.edu	37	9	118997560	118997560	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:118997560C>T	ENST00000328252.3	+	7	2745	c.2376C>T	c.(2374-2376)gtC>gtT	p.V792V	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	792					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACCCCTTGGTCCCTGAGTCTC	0.552																																																	0													114.0	91.0	99.0					9																	118997560		2203	4300	6503	SO:0001819	synonymous_variant	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2376C>T	9.37:g.118997560C>T			B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.V792	ENST00000328252.3	37	c.2376	CCDS6813.1	9																																																																																			PAPPA	-	superfamily_Fibronectin_type3		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	C	NM_002581		118997560	+1	no_errors	ENST00000328252	ensembl	human	known	70_37	silent	SNP	0.878	T
PAPPA2	60676	genome.wustl.edu	37	1	176564676	176564676	+	Missense_Mutation	SNP	G	G	A	rs550436411		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:176564676G>A	ENST00000367662.3	+	3	3100	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D646N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	646	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGACTGCTGCGACCCCCAGGT	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21020	0.0		0.0	False		,,,				2504	0.0																0													57.0	62.0	60.0					1																	176564676		2164	4268	6432	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1936G>A	1.37:g.176564676G>A	ENSP00000356634:p.Asp646Asn		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.D646N	ENST00000367662.3	37	c.1936	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559789	0.45590	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.31769	4.75;1.48	5.42	4.51	0.55191	.	0.294917	0.36972	N	0.002304	T	0.22589	0.0545	N	0.26130	0.795	0.40517	D	0.980795	P;D	0.58620	0.539;0.983	B;P	0.46629	0.109;0.522	T	0.03728	-1.1009	10	0.29301	T	0.29	-19.8752	6.7738	0.23609	0.1557:0.1469:0.6973:0.0	.	646;646	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	646	ENSP00000356634:D646N;ENSP00000356633:D646N	ENSP00000356633:D646N	D	+	1	0	PAPPA2	174831299	1.000000	0.71417	0.974000	0.42286	0.470000	0.32858	4.089000	0.57685	1.288000	0.44600	0.650000	0.86243	GAC	PAPPA2	-	NULL		0.582	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	G			176564676	+1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	0.998	A
PAPSS1	9061	genome.wustl.edu	37	4	108615047	108615047	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:108615047T>G	ENST00000265174.4	-	3	563	c.291A>C	c.(289-291)aaA>aaC	p.K97N	PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	97					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AGCCAAGATTTTTATTGAGAC	0.443																																																	0													137.0	123.0	128.0					4																	108615047		2203	4300	6503	SO:0001583	missense	9061			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.291A>C	4.37:g.108615047T>G	ENSP00000265174:p.Lys97Asn		O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.K97N	ENST00000265174.4	37	c.291	CCDS3676.1	4	.	.	.	.	.	.	.	.	.	.	T	19.38	3.815587	0.70912	.	.	ENSG00000138801	ENST00000265174	T	0.79247	-1.25	5.67	-5.89	0.02282	Adenylylsulphate kinase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86029	0.5835	M	0.83312	2.635	0.80722	D	1	D	0.64830	0.994	D	0.77004	0.989	D	0.86724	0.1944	10	0.72032	D	0.01	-30.1002	16.952	0.86248	0.0:0.6098:0.0:0.3902	.	97	O43252	PAPS1_HUMAN	N	97	ENSP00000265174:K97N	ENSP00000265174:K97N	K	-	3	2	PAPSS1	108834496	0.019000	0.18553	0.894000	0.35097	0.998000	0.95712	-0.848000	0.04326	-1.140000	0.02877	0.454000	0.30748	AAA	PAPSS1	-	pfam_APS_kinase,tigrfam_APS_kinase		0.443	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS1	HGNC	protein_coding	OTTHUMT00000253946.2	T			108615047	-1	no_errors	ENST00000265174	ensembl	human	known	70_37	missense	SNP	0.836	G
PARD3	56288	genome.wustl.edu	37	10	34626313	34626313	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:34626313C>T	ENST00000374789.3	-	17	2784	c.2459G>A	c.(2458-2460)cGa>cAa	p.R820Q	PARD3_ENST00000374773.1_Missense_Mutation_p.R817Q|PARD3_ENST00000374790.3_Missense_Mutation_p.R760Q|PARD3_ENST00000466092.1_5'Flank|PARD3_ENST00000544292.1_Missense_Mutation_p.R534Q|PARD3_ENST00000374788.3_Missense_Mutation_p.R817Q|PARD3_ENST00000374794.3_Missense_Mutation_p.R760Q|PARD3_ENST00000340077.5_Missense_Mutation_p.R817Q|PARD3_ENST00000545693.1_Missense_Mutation_p.R804Q|PARD3_ENST00000350537.4_Missense_Mutation_p.R804Q|PARD3_ENST00000346874.4_Missense_Mutation_p.R820Q|PARD3_ENST00000374776.1_Missense_Mutation_p.R804Q|PARD3_ENST00000545260.1_Missense_Mutation_p.R760Q	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	820	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AAATCCTTCTCGTTGAAAAGC	0.343																																																	0													87.0	80.0	82.0					10																	34626313		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2459G>A	10.37:g.34626313C>T	ENSP00000363921:p.Arg820Gln		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R820Q	ENST00000374789.3	37	c.2459	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037257	0.93630	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.56776	0.9;2.42;0.9;1.76;1.03;2.13;2.41;0.87;2.01;0.44;2.09;0.52	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;P;P;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.938;0.867;1.0	D;D;D;D;D;D;D;D;D;D;D;D;P;B;D	0.91635	0.999;0.982;0.997;0.999;0.997;0.997;0.999;0.949;0.998;0.988;0.998;0.999;0.454;0.329;0.987	T	0.68522	-0.5386	10	0.46703	T	0.11	.	20.1237	0.97972	0.0:1.0:0.0:0.0	.	760;760;804;804;804;820;817;820;760;804;817;817;804;817;534	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	Q	804;760;820;817;820;760;804;760;804;817;817;534	ENSP00000443147:R804Q;ENSP00000440857:R760Q;ENSP00000363921:R820Q;ENSP00000363920:R817Q;ENSP00000340591:R820Q;ENSP00000363926:R760Q;ENSP00000311986:R804Q;ENSP00000363922:R760Q;ENSP00000363908:R804Q;ENSP00000341844:R817Q;ENSP00000363905:R817Q;ENSP00000444429:R534Q	ENSP00000341844:R817Q	R	-	2	0	PARD3	34666319	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.759000	0.94783	0.561000	0.74099	CGA	PARD3	-	NULL		0.343	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	C	NM_019619		34626313	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	missense	SNP	1.000	T
PARD6B	84612	genome.wustl.edu	37	20	49366912	49366912	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:49366912C>T	ENST00000371610.2	+	3	1249	c.1006C>T	c.(1006-1008)Ccc>Tcc	p.P336S	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	336					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGGCTTTATTCCCTCTAATGA	0.423																																																	0													84.0	79.0	81.0					20																	49366912		2203	4300	6503	SO:0001583	missense	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.1006C>T	20.37:g.49366912C>T	ENSP00000360672:p.Pro336Ser		A2A2A7|Q9Y510	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.P336S	ENST00000371610.2	37	c.1006	CCDS33485.1	20	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015687	0.19355	.	.	ENSG00000124171	ENST00000371610	T	0.14022	2.54	5.73	3.81	0.43845	.	0.177647	0.50627	D	0.000109	T	0.11110	0.0271	L	0.34521	1.04	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.06356	-1.0831	10	0.62326	D	0.03	-19.8414	10.1298	0.42672	0.0:0.7904:0.0:0.2096	.	336	Q9BYG5	PAR6B_HUMAN	S	336	ENSP00000360672:P336S	ENSP00000360672:P336S	P	+	1	0	PARD6B	48800319	0.999000	0.42202	0.365000	0.25901	0.094000	0.18550	1.331000	0.33793	1.438000	0.47492	0.591000	0.81541	CCC	PARD6B	-	NULL		0.423	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6B	HGNC	protein_coding	OTTHUMT00000079697.2	C	NM_032521		49366912	+1	no_errors	ENST00000371610	ensembl	human	known	70_37	missense	SNP	0.977	T
PARP11	57097	genome.wustl.edu	37	12	3921552	3921552	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:3921552T>C	ENST00000228820.4	-	8	898	c.754A>G	c.(754-756)Ata>Gta	p.I252V	PARP11_ENST00000397096.2_Intron|PARP11_ENST00000427057.2_Missense_Mutation_p.I171V|PARP11_ENST00000447133.3_Missense_Mutation_p.I171V|PARP11_ENST00000476985.1_Intron	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	245	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			CCATGCTTTATGTCATCTTTG	0.393																																																	0													94.0	88.0	90.0					12																	3921552		2203	4300	6503	SO:0001583	missense	57097			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.754A>G	12.37:g.3921552T>C	ENSP00000228820:p.Ile252Val		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.I252V	ENST00000228820.4	37	c.754	CCDS8523.2	12	.	.	.	.	.	.	.	.	.	.	T	3.162	-0.171944	0.06421	.	.	ENSG00000111224	ENST00000427057;ENST00000228820;ENST00000447133	T;T;T	0.13307	2.6;2.6;2.6	5.95	0.183	0.15082	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.404895	0.30791	N	0.008880	T	0.04543	0.0124	N	0.03608	-0.345	0.25501	N	0.987557	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.001	T	0.36939	-0.9727	10	0.27785	T	0.31	.	5.7266	0.18017	0.0:0.1679:0.4399:0.3922	.	171;252;245	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	V	171;252;171	ENSP00000397058:I171V;ENSP00000228820:I252V;ENSP00000405385:I171V	ENSP00000228820:I252V	I	-	1	0	PARP11	3791813	0.959000	0.32827	0.997000	0.53966	0.996000	0.88848	0.359000	0.20233	0.079000	0.16929	0.528000	0.53228	ATA	PARP11	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.393	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP11	HGNC	protein_coding	OTTHUMT00000344213.1	T			3921552	-1	no_errors	ENST00000228820	ensembl	human	known	70_37	missense	SNP	0.998	C
PARP11	57097	genome.wustl.edu	37	12	3939163	3939163	+	Nonsense_Mutation	SNP	C	C	A	rs142910026	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:3939163C>A	ENST00000228820.4	-	2	184	c.40G>T	c.(40-42)Gaa>Taa	p.E14*	PARP11_ENST00000397096.2_Nonsense_Mutation_p.E7*|PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000447133.3_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	7							NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GAAAATAATTCTTCTGCTTTG	0.373																																																	0								T	stop/GLU	0,4406		0,0,2203	118.0	109.0	112.0		40	3.7	0.8	12	dbSNP_134	112	5,8595	2.2+/-6.3	0,5,4295	no	stop-gained	PARP11	NM_020367.4		0,5,6498	AA,AC,CC		0.0581,0.0,0.0384		14/339	3939163	5,13001	2203	4300	6503	SO:0001587	stop_gained	57097			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.40G>T	12.37:g.3939163C>A	ENSP00000228820:p.Glu14*		B4DRQ0|Q68DS1|Q8N5Y9	Nonsense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E14*	ENST00000228820.4	37	c.40	CCDS8523.2	12	.	.	.	.	.	.	.	.	.	.	c	14.83	2.652122	0.47362	0.0	5.81E-4	ENSG00000111224	ENST00000397096;ENST00000228820	.	.	.	5.52	3.73	0.42828	.	0.225697	0.37178	N	0.002201	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	10.2726	0.43491	0.0:0.8418:0.0:0.1582	.	.	.	.	X	7;14	.	ENSP00000228820:E14X	E	-	1	0	PARP11	3809424	1.000000	0.71417	0.774000	0.31636	0.100000	0.18952	3.628000	0.54259	0.915000	0.36847	-0.213000	0.12676	GAA	PARP11	-	NULL		0.373	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP11	HGNC	protein_coding	OTTHUMT00000344213.1	C			3939163	-1	no_errors	ENST00000228820	ensembl	human	known	70_37	nonsense	SNP	0.993	A
PARP14	54625	genome.wustl.edu	37	3	122418266	122418266	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:122418266G>A	ENST00000474629.2	+	6	1131	c.865G>A	c.(865-867)Gac>Aac	p.D289N		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	289					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)		CACAAAACTCGACTTCAATAA	0.383																																																	0													78.0	71.0	73.0					3																	122418266		1907	4116	6023	SO:0001583	missense	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.865G>A	3.37:g.122418266G>A	ENSP00000418194:p.Asp289Asn		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_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.D289N	ENST00000474629.2	37	c.865	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285813	0.23478	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.71579	-0.58	5.46	-1.29	0.09288	.	2.205370	0.01599	N	0.021927	T	0.60170	0.2248	L	0.51422	1.61	0.09310	N	1	B;B	0.15719	0.006;0.014	B;B	0.08055	0.003;0.002	T	0.22382	-1.0218	10	0.32370	T	0.25	.	1.0014	0.01478	0.2498:0.111:0.3394:0.2998	.	289;289	Q460N5-4;Q460N5	.;PAR14_HUMAN	N	289;208	ENSP00000418194:D289N	ENSP00000381228:D208N	D	+	1	0	PARP14	123900956	0.000000	0.05858	0.003000	0.11579	0.853000	0.48598	-0.164000	0.09983	0.063000	0.16370	0.655000	0.94253	GAC	PARP14	-	NULL		0.383	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	G	NM_017554		122418266	+1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	0.000	A
PARPBP	55010	genome.wustl.edu	37	12	102559603	102559603	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:102559603A>G	ENST00000358383.5	+	6	808	c.763A>G	c.(763-765)Aat>Gat	p.N255D	PARPBP_ENST00000392911.2_Missense_Mutation_p.N174D|PARPBP_ENST00000541394.1_Missense_Mutation_p.N332D|PARPBP_ENST00000543784.1_Missense_Mutation_p.N141D|PARPBP_ENST00000327680.2_Missense_Mutation_p.N174D|PARPBP_ENST00000378128.3_Missense_Mutation_p.N255D|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	255					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						GGGATTGTCTAATTTTATTAA	0.333																																																	0													99.0	103.0	102.0					12																	102559603		2203	4300	6503	SO:0001583	missense	55010			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.763A>G	12.37:g.102559603A>G	ENSP00000351153:p.Asn255Asp		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	NULL	p.N255D	ENST00000358383.5	37	c.763	CCDS9090.2	12	.	.	.	.	.	.	.	.	.	.	A	11.59	1.685449	0.29872	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000543784;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.95	1.0	0.19881	.	0.534694	0.24303	N	0.039708	T	0.26702	0.0653	L	0.39898	1.24	0.09310	N	0.999994	B;B;B;B;B	0.15473	0.005;0.013;0.001;0.002;0.004	B;B;B;B;B	0.14578	0.008;0.011;0.003;0.003;0.006	T	0.21075	-1.0256	10	0.15952	T	0.53	-1.1772	5.9777	0.19389	0.4342:0.3673:0.1985:0.0	.	141;332;255;255;255	B4DT40;B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1	.;.;.;.;PR1BP_HUMAN	D	255;174;332;141;255;174;222;222	ENSP00000367368:N255D;ENSP00000332915:N174D;ENSP00000440850:N332D;ENSP00000444576:N141D;ENSP00000351153:N255D;ENSP00000376643:N174D;ENSP00000411313:N222D;ENSP00000393867:N222D	ENSP00000332915:N174D	N	+	1	0	C12orf48	101083733	0.022000	0.18835	0.963000	0.40424	0.986000	0.74619	0.966000	0.29331	-0.053000	0.13289	0.402000	0.26972	AAT	PARPBP	-	NULL		0.333	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARPBP	HGNC	protein_coding	OTTHUMT00000397030.2	A	NM_017915		102559603	+1	no_errors	ENST00000358383	ensembl	human	known	70_37	missense	SNP	0.420	G
PARPBP	55010	genome.wustl.edu	37	12	102576370	102576370	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:102576370C>T	ENST00000358383.5	+	9	1273	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	PARPBP_ENST00000392911.2_Missense_Mutation_p.R329C|PARPBP_ENST00000541394.1_Missense_Mutation_p.R487C|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000327680.2_Missense_Mutation_p.R329C|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	410					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						CCTAAGAGAACGCATCTGTGT	0.313																																																	0													59.0	60.0	60.0					12																	102576370		2203	4300	6503	SO:0001583	missense	55010			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1228C>T	12.37:g.102576370C>T	ENSP00000351153:p.Arg410Cys		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	NULL	p.R410C	ENST00000358383.5	37	c.1228	CCDS9090.2	12	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141973	0.57044	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911;ENST00000417507	T;T;T;T;T	0.64260	0.85;0.85;0.85;0.85;-0.09	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.80549	-0.1333	10	0.87932	D	0	-1.1863	15.3071	0.74001	0.0:1.0:0.0:0.0	.	487;289;410	B4DZ31;Q9NWS1-7;Q9NWS1	.;.;PR1BP_HUMAN	C	329;487;410;329;256	ENSP00000332915:R329C;ENSP00000440850:R487C;ENSP00000351153:R410C;ENSP00000376643:R329C;ENSP00000411313:R256C	ENSP00000332915:R329C	R	+	1	0	C12orf48	101100500	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	3.974000	0.56852	2.762000	0.94881	0.591000	0.81541	CGC	PARPBP	-	NULL		0.313	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARPBP	HGNC	protein_coding	OTTHUMT00000397030.2	C	NM_017915		102576370	+1	no_errors	ENST00000358383	ensembl	human	known	70_37	missense	SNP	1.000	T
PARPBP	55010	genome.wustl.edu	37	12	102590315	102590315	+	3'UTR	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:102590315C>A	ENST00000358383.5	+	0	2031				PARPBP_ENST00000541394.1_3'UTR|PMCH_ENST00000329406.4_3'UTR|PARPBP_ENST00000327680.2_3'UTR|PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000535811.1_3'UTR			Q9NWS1	PARI_HUMAN	PARP1 binding protein						DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						ACACTACTTTCTTTTAAAACA	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	55010			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.*246C>A	12.37:g.102590315C>A			B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	RNA	SNP	-	NULL	ENST00000358383.5	37	NULL	CCDS9090.2	12																																																																																			PARPBP	-	-		0.299	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARPBP	HGNC	protein_coding	OTTHUMT00000397030.2	C	NM_017915		102590315	+1	no_errors	ENST00000535811	ensembl	human	known	70_37	rna	SNP	0.001	A
PAXIP1	22976	genome.wustl.edu	37	7	154751640	154751640	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:154751640G>A	ENST00000404141.1	-	13	2592	c.2438C>T	c.(2437-2439)gCt>gTt	p.A813V	RP11-5C23.2_ENST00000609134.1_RNA|PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.A813V			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	813	Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AACTCTCCAAGCATCTAAAGA	0.338																																																	0													128.0	124.0	125.0					7																	154751640		1824	4080	5904	SO:0001583	missense	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2438C>T	7.37:g.154751640G>A	ENSP00000384048:p.Ala813Val		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.A813V	ENST00000404141.1	37	c.2438	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866697	0.72065	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.50548	0.74;0.74	4.81	4.81	0.61882	.	0.000000	0.52532	U	0.000080	T	0.68439	0.3001	M	0.71581	2.175	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.993	D;D;D	0.72625	0.931;0.941;0.978	T	0.73075	-0.4097	10	0.72032	D	0.01	-24.2795	17.9072	0.88921	0.0:0.0:1.0:0.0	.	766;779;813	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	V	813;813;637;766	ENSP00000384048:A813V;ENSP00000380376:A813V	ENSP00000319149:A766V	A	-	2	0	PAXIP1	154382573	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.594000	0.82698	2.226000	0.72624	0.650000	0.86243	GCT	PAXIP1	-	NULL		0.338	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	G	NM_007349		154751640	-1	no_errors	ENST00000397192	ensembl	human	known	70_37	missense	SNP	1.000	A
PBX3	5090	genome.wustl.edu	37	9	128678194	128678194	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:128678194G>T	ENST00000373489.5	+	3	520	c.504G>T	c.(502-504)gaG>gaT	p.E168D	PBX3_ENST00000447726.2_Missense_Mutation_p.E93D|PBX3_ENST00000342287.5_Missense_Mutation_p.E168D|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373487.4_Missense_Mutation_p.E168D	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	168					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						CAGAACTGGAGAAATATGAAC	0.473																																																	0													51.0	59.0	56.0					9																	128678194		2203	4300	6503	SO:0001583	missense	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.504G>T	9.37:g.128678194G>T	ENSP00000362588:p.Glu168Asp		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E168D	ENST00000373489.5	37	c.504	CCDS6865.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.540350|4.540350	0.85917|0.85917	.|.	.|.	ENSG00000167081|ENSG00000167081	ENST00000373489;ENST00000342287;ENST00000373487;ENST00000447726;ENST00000538998|ENST00000428092	T;T;T;T;T|.	0.34859|.	1.34;1.34;1.34;1.34;1.34|.	6.17|6.17	6.17|6.17	0.99709|0.99709	PBX (1);|.	0.093563|0.093563	0.64402|0.64402	D|D	0.000001|0.000001	D|.	0.83899|.	0.5354|.	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	B;D;P|.	0.71674|.	0.087;0.998;0.616|.	B;D;P|.	0.85130|.	0.168;0.997;0.549|.	T|.	0.81741|.	-0.0794|.	10|.	0.52906|0.36615	T|T	0.07|0.2	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	79;168;168|.	B7Z5Q0;Q5JS98;P40426|.	.;.;PBX3_HUMAN|.	D|X	168;168;168;93;79|89	ENSP00000362588:E168D;ENSP00000341990:E168D;ENSP00000362586:E168D;ENSP00000387456:E93D;ENSP00000444005:E79D|.	ENSP00000341990:E168D|ENSP00000397903:E89X	E|E	+|+	3|1	2|0	PBX3|PBX3	127718015|127718015	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|GAA	PBX3	-	pfam_PBX		0.473	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	G			128678194	+1	no_errors	ENST00000373489	ensembl	human	known	70_37	missense	SNP	1.000	T
PBX3	5090	genome.wustl.edu	37	9	128724393	128724393	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:128724393C>A	ENST00000373489.5	+	7	1038	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	PBX3_ENST00000447726.2_Missense_Mutation_p.S266Y|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000373483.2_Missense_Mutation_p.S160Y|PBX3_ENST00000538998.1_Intron|PBX3_ENST00000373487.4_Missense_Mutation_p.S362Y	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	341					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TCTTCTGGTTCTTTTAACCTC	0.443																																																	0													103.0	87.0	92.0					9																	128724393		2203	4300	6503	SO:0001583	missense	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1022C>A	9.37:g.128724393C>A	ENSP00000362588:p.Ser341Tyr		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S341Y	ENST00000373489.5	37	c.1022	CCDS6865.1	9	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397886	0.83120	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.90197	-2.41;1.68;-2.56;-2.63	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.94235	0.8149	M	0.78637	2.42	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.68621	0.959;0.929	D	0.90525	0.4491	10	0.02654	T	1	.	19.8869	0.96915	0.0:1.0:0.0:0.0	.	362;341	Q5JS98;P40426	.;PBX3_HUMAN	Y	341;362;160;266	ENSP00000362588:S341Y;ENSP00000362586:S362Y;ENSP00000362582:S160Y;ENSP00000387456:S266Y	ENSP00000362582:S160Y	S	+	2	0	PBX3	127764214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.692000	0.91855	0.650000	0.86243	TCT	PBX3	-	NULL		0.443	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	C			128724393	+1	no_errors	ENST00000373489	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDH10	57575	genome.wustl.edu	37	4	134071547	134071547	+	Silent	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:134071547C>A	ENST00000264360.5	+	1	1078	c.252C>A	c.(250-252)atC>atA	p.I84I	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	84	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGAACAAATCTGCAAACAGA	0.547																																																	0													66.0	72.0	70.0					4																	134071547		2203	4300	6503	SO:0001819	synonymous_variant	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.252C>A	4.37:g.134071547C>A			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I84	ENST00000264360.5	37	c.252	CCDS34063.1	4																																																																																			PCDH10	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	C	NM_032961		134071547	+1	no_errors	ENST00000264360	ensembl	human	known	70_37	silent	SNP	1.000	A
PCDH11X	27328	genome.wustl.edu	37	X	91133869	91133869	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:91133869C>T	ENST00000373094.1	+	2	3475	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F	PCDH11X_ENST00000361724.1_Missense_Mutation_p.S877F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S877F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S877F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S877F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S877F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S877F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S877F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S877F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	877					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						aagaagCATTCCCCTAAGAAC	0.393																																					NSCLC(38;925 1092 2571 38200 45895)												0													94.0	85.0	88.0					X																	91133869		2203	4300	6503	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2630C>T	X.37:g.91133869C>T	ENSP00000362186:p.Ser877Phe		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S877F	ENST00000373094.1	37	c.2630	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832317	0.32421	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	4.84	2.95	0.34219	Protocadherin (1);	0.537282	0.20625	N	0.088689	T	0.49898	0.1584	L	0.49778	1.585	0.24477	N	0.99437	P;B;P;P;P;P;B;B	0.40230	0.488;0.348;0.659;0.659;0.659;0.708;0.208;0.208	P;P;P;P;P;P;P;P	0.53988	0.622;0.495;0.495;0.495;0.495;0.739;0.495;0.495	T	0.40365	-0.9567	10	0.87932	D	0	.	9.1296	0.36837	0.0:0.769:0.1437:0.0873	.	877;877;877;877;877;877;877;877	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	F	877	ENSP00000378746:S877F;ENSP00000362186:S877F;ENSP00000362189:S877F;ENSP00000355040:S877F;ENSP00000362180:S877F;ENSP00000423762:S877F;ENSP00000355105:S877F;ENSP00000384758:S877F;ENSP00000298274:S877F	ENSP00000298274:S877F	S	+	2	0	PCDH11X	91020525	0.997000	0.39634	0.986000	0.45419	0.752000	0.42762	2.754000	0.47532	0.952000	0.37798	0.600000	0.82982	TCC	PCDH11X	-	pfam_Protocadherin		0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91133869	+1	no_errors	ENST00000373094	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	55892704	55892704	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:55892704G>A	ENST00000320301.6	-	15	2242	c.1848C>T	c.(1846-1848)ttC>ttT	p.F616F	PCDH15_ENST00000361849.3_Silent_p.F616F|PCDH15_ENST00000414778.1_Silent_p.F621F|PCDH15_ENST00000373957.3_Silent_p.F594F|PCDH15_ENST00000395433.1_Silent_p.F594F|PCDH15_ENST00000373955.1_Silent_p.F616F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.F579F|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395446.1_Silent_p.F616F|PCDH15_ENST00000373965.2_Silent_p.F623F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.F616F|PCDH15_ENST00000409834.1_Silent_p.F227F|PCDH15_ENST00000395445.1_Silent_p.F623F|PCDH15_ENST00000395438.1_Silent_p.F616F	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	616	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAGCTGTGGGAAGCGAGGAG	0.433										HNSCC(58;0.16)																																							0													130.0	112.0	118.0					10																	55892704		2203	4300	6503	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1848C>T	10.37:g.55892704G>A			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	NULL	p.S52F	ENST00000320301.6	37	c.155	CCDS7248.1	10																																																																																			PCDH15	-	NULL		0.433	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	G	NM_033056		55892704	-1	no_errors	ENST00000373956	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDHA1	56147	genome.wustl.edu	37	5	140166648	140166648	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140166648G>T	ENST00000504120.2	+	1	773	c.773G>T	c.(772-774)gGa>gTa	p.G258V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G258V|PCDHA1_ENST00000394633.3_Missense_Mutation_p.G258V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	258	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAAATGGAACATTAGTG	0.448																																																	0													133.0	126.0	128.0					5																	140166648		2203	4300	6503	SO:0001583	missense	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.773G>T	5.37:g.140166648G>T	ENSP00000420840:p.Gly258Val		O75288|Q9NRT7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G258V	ENST00000504120.2	37	c.773	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	g	15.41	2.826166	0.50739	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.70399	-0.48;-0.48;-0.48	4.19	2.32	0.28847	Cadherin (4);Cadherin-like (1);	0.000000	0.42172	U	0.000747	D	0.87277	0.6137	H	0.96720	3.87	0.38000	D	0.934184	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.81914	0.995;0.986;0.96	D	0.88167	0.2861	10	0.87932	D	0	.	9.2063	0.37291	0.0823:0.1467:0.771:0.0	.	258;258;258	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	V	258	ENSP00000420840:G258V;ENSP00000378129:G258V;ENSP00000367373:G258V	ENSP00000367373:G258V	G	+	2	0	PCDHA1	140146832	1.000000	0.71417	0.029000	0.17559	0.971000	0.66376	2.878000	0.48515	0.326000	0.23384	0.650000	0.86243	GGA	PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.448	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	G	NM_018900		140166648	+1	no_errors	ENST00000504120	ensembl	human	known	70_37	missense	SNP	0.585	T
PCDHA11	56138	genome.wustl.edu	37	5	140249718	140249718	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140249718G>T	ENST00000398640.2	+	1	1030	c.1030G>T	c.(1030-1032)Gat>Tat	p.D344Y	PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	344	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACACCAACGATAACTCTCC	0.512																																																	0													62.0	70.0	67.0					5																	140249718		2203	4300	6503	SO:0001583	missense	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1030G>T	5.37:g.140249718G>T	ENSP00000381636:p.Asp344Tyr		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D344Y	ENST00000398640.2	37	c.1030	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441432	0.63067	.	.	ENSG00000249158	ENST00000398640	T	0.54866	0.55	5.73	5.73	0.89815	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85839	0.5790	H	0.99454	4.575	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91788	0.5441	9	0.87932	D	0	.	19.4907	0.95049	0.0:0.0:1.0:0.0	.	344;344	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	Y	344	ENSP00000381636:D344Y	ENSP00000381636:D344Y	D	+	1	0	PCDHA11	140229902	1.000000	0.71417	0.557000	0.28306	0.618000	0.37518	9.548000	0.98103	2.708000	0.92522	0.563000	0.77884	GAT	PCDHA11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.512	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	G	NM_018902		140249718	+1	no_errors	ENST00000398640	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHA7	56141	genome.wustl.edu	37	5	140214535	140214535	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140214535A>C	ENST00000525929.1	+	1	567	c.567A>C	c.(565-567)gtA>gtC	p.V189V	PCDHA7_ENST00000378125.3_Silent_p.V189V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	189	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCAGGTAAAACCTCTTG	0.517																																					NSCLC(160;258 2013 5070 22440 28951)												0													7.0	8.0	7.0					5																	140214535		1888	3747	5635	SO:0001819	synonymous_variant	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.567A>C	5.37:g.140214535A>C			O75282	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V189	ENST00000525929.1	37	c.567	CCDS54918.1	5																																																																																			PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.517	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	A	NM_018910		140214535	+1	no_errors	ENST00000525929	ensembl	human	known	70_37	silent	SNP	0.000	C
PCDHA13	56136	genome.wustl.edu	37	5	140262328	140262328	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140262328G>A	ENST00000289272.2	+	1	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N	PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D159N|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	159	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGCATCCGATGCAGATAT	0.443																																					Melanoma(147;1739 1852 5500 27947 37288)												0													93.0	91.0	91.0					5																	140262328		2203	4300	6503	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.475G>A	5.37:g.140262328G>A	ENSP00000289272:p.Asp159Asn		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D159N	ENST00000289272.2	37	c.475	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864483	0.91511	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.61627	0.09;0.09	5.49	5.49	0.81192	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87896	0.6293	H	0.99740	4.74	0.45025	D	0.998046	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93373	0.6737	9	0.87932	D	0	.	18.9549	0.92654	0.0:0.0:1.0:0.0	.	159;159;159	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	N	159	ENSP00000386821:D159N;ENSP00000289272:D159N	ENSP00000289272:D159N	D	+	1	0	PCDHA13	140242512	1.000000	0.71417	0.950000	0.38849	0.965000	0.64279	7.930000	0.87610	2.573000	0.86826	0.491000	0.48974	GAT	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.443	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	G	NM_018904		140262328	+1	no_errors	ENST00000289272	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDHB6	56130	genome.wustl.edu	37	5	140530913	140530913	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140530913C>G	ENST00000231136.1	+	1	1075	c.1075C>G	c.(1075-1077)Cca>Gca	p.P359A	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P223A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	359	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAAACTTACCAGAGATCAC	0.443																																																	0													115.0	108.0	110.0					5																	140530913		2203	4300	6503	SO:0001583	missense	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1075C>G	5.37:g.140530913C>G	ENSP00000231136:p.Pro359Ala		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P359A	ENST00000231136.1	37	c.1075	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964477	0.18583	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.54071	0.59;0.59	4.86	4.86	0.63082	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.60170	0.2248	M	0.66297	2.02	0.21386	N	0.9997	B	0.22541	0.071	B	0.33690	0.168	T	0.56986	-0.7888	9	0.54805	T	0.06	.	18.3605	0.90372	0.0:1.0:0.0:0.0	.	359	Q9Y5E3	PCDB6_HUMAN	A	223;359;144	ENSP00000438466:P223A;ENSP00000231136:P359A	ENSP00000231136:P359A	P	+	1	0	PCDHB6	140511097	0.000000	0.05858	0.140000	0.22221	0.072000	0.16883	-1.463000	0.02361	2.401000	0.81631	0.655000	0.94253	CCA	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.443	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	C	NM_018939		140530913	+1	no_errors	ENST00000231136	ensembl	human	known	70_37	missense	SNP	0.863	G
PCDHB7	56129	genome.wustl.edu	37	5	140554024	140554024	+	Silent	SNP	C	C	T	rs13185413		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140554024C>T	ENST00000231137.3	+	1	1782	c.1608C>T	c.(1606-1608)cgC>cgT	p.R536R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACAGACCGCGGCTCCCCCG	0.682																																																	0													48.0	54.0	52.0					5																	140554024		2203	4298	6501	SO:0001819	synonymous_variant	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1608C>T	5.37:g.140554024C>T			A1L3Y8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R536	ENST00000231137.3	37	c.1608	CCDS4249.1	5																																																																																			PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	C	NM_018940		140554024	+1	no_errors	ENST00000231137	ensembl	human	known	70_37	silent	SNP	0.346	T
PCDHGA1	56114	genome.wustl.edu	37	5	140711803	140711803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140711803C>T	ENST00000517417.1	+	1	1552	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.R518*	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATGCGCTGCGATCCTTCGA	0.557																																																	0													159.0	169.0	166.0					5																	140711803		2203	4300	6503	SO:0001587	stop_gained	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1552C>T	5.37:g.140711803C>T	ENSP00000431083:p.Arg518*		Q2M273|Q9Y5D6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R518*	ENST00000517417.1	37	c.1552	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488978	0.26686	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	.	.	.	3.82	-1.68	0.08212	.	0.780131	0.10844	N	0.627918	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.5401	0.04723	0.3436:0.3977:0.1128:0.1459	.	.	.	.	X	518	.	ENSP00000367345:R518X	R	+	1	2	PCDHGA1	140691987	0.000000	0.05858	0.009000	0.14445	0.119000	0.20118	-0.342000	0.07801	-0.238000	0.09724	-0.319000	0.08680	CGA	PCDHGA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.557	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	C	NM_018912		140711803	+1	no_errors	ENST00000517417	ensembl	human	known	70_37	nonsense	SNP	0.216	T
PCDHGA6	56109	genome.wustl.edu	37	5	140756057	140756057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140756057G>T	ENST00000517434.1	+	1	2407	c.2407G>T	c.(2407-2409)Gaa>Taa	p.E803*	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	803					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGAAAGGAGAACCCAGGCA	0.488																																																	0													61.0	64.0	63.0					5																	140756057		2146	4264	6410	SO:0001587	stop_gained	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2407G>T	5.37:g.140756057G>T	ENSP00000429601:p.Glu803*		A6H8K7|B2RN55|Q9Y5D1	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E803*	ENST00000517434.1	37	c.2407	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	29.3	4.997002	0.93167	.	.	ENSG00000253731	ENST00000517434	.	.	.	3.03	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	13.7461	0.62876	0.0:0.0:1.0:0.0	.	.	.	.	X	803	.	ENSP00000429601:E803X	E	+	1	0	PCDHGA6	140736241	0.016000	0.18221	0.005000	0.12908	0.041000	0.13682	1.890000	0.39728	1.507000	0.48752	0.305000	0.20034	GAA	PCDHGA6	-	NULL		0.488	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	G	NM_018919		140756057	+1	no_errors	ENST00000517434	ensembl	human	known	70_37	nonsense	SNP	0.050	T
PCDHGA12	26025	genome.wustl.edu	37	5	140810713	140810713	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140810713T>C	ENST00000252085.3	+	1	529	c.387T>C	c.(385-387)aaT>aaC	p.N129N	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	129	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAACGACAATGCGCCTTACT	0.418																																																	0													80.0	93.0	89.0					5																	140810713		2203	4300	6503	SO:0001819	synonymous_variant	26025			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.387T>C	5.37:g.140810713T>C			O15100|Q6UW70|Q9Y5D7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N129	ENST00000252085.3	37	c.387	CCDS4260.1	5																																																																																			PCDHGA12	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.418	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	T	NM_003735		140810713	+1	no_errors	ENST00000252085	ensembl	human	known	70_37	silent	SNP	0.996	C
PCDHGC4	56098	genome.wustl.edu	37	5	140866758	140866758	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:140866758T>C	ENST00000306593.1	+	1	2018	c.2018T>C	c.(2017-2019)gTc>gCc	p.V673A	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	673	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCAGTTGTCCCAGATCTT	0.483																																																	0													115.0	102.0	107.0					5																	140866758		2203	4300	6503	SO:0001583	missense	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.2018T>C	5.37:g.140866758T>C	ENSP00000306918:p.Val673Ala		Q495T2|Q9Y5C3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V673A	ENST00000306593.1	37	c.2018	CCDS4262.1	5	.	.	.	.	.	.	.	.	.	.	T	9.119	1.008494	0.19199	.	.	ENSG00000242419	ENST00000306593	T	0.47177	0.85	5.67	4.47	0.54385	Cadherin (1);	.	.	.	.	T	0.33206	0.0855	N	0.20986	0.625	0.21740	N	0.999568	B;B	0.19200	0.003;0.034	B;B	0.15484	0.001;0.013	T	0.17379	-1.0371	9	0.21540	T	0.41	.	11.5849	0.50912	0.0:0.0713:0.0:0.9287	.	673;673	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	A	673	ENSP00000306918:V673A	ENSP00000306918:V673A	V	+	2	0	PCDHGC4	140846942	0.013000	0.17824	1.000000	0.80357	0.993000	0.82548	1.944000	0.40263	0.932000	0.37266	0.482000	0.46254	GTC	PCDHGC4	-	pfscan_Cadherin		0.483	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC4	HGNC	protein_coding	OTTHUMT00000251820.1	T	NM_018928		140866758	+1	no_errors	ENST00000306593	ensembl	human	known	70_37	missense	SNP	0.958	C
PCED1B	91523	genome.wustl.edu	37	12	47629064	47629064	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:47629064G>A	ENST00000546455.1	+	4	949	c.218G>A	c.(217-219)gGc>gAc	p.G73D	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.G73D			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	73							hydrolase activity (GO:0016787)										ATGCACAACGGCCTTAACTAC	0.597																																																	0													108.0	98.0	101.0					12																	47629064		2203	4300	6503	SO:0001583	missense	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.218G>A	12.37:g.47629064G>A	ENSP00000446688:p.Gly73Asp		Q96B20	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.G73D	ENST00000546455.1	37	c.218	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961183	0.53400	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.79	3.79	0.43588	Esterase, SGNH hydrolase-type (1);	0.154442	0.41823	D	0.000804	T	0.42086	0.1187	M	0.80183	2.485	0.42662	D	0.993489	D	0.89917	1.0	D	0.87578	0.998	T	0.34775	-0.9815	10	0.39692	T	0.17	-18.9126	13.9718	0.64245	0.0:0.0:1.0:0.0	.	73	Q96HM7	F113B_HUMAN	D	73	ENSP00000446688:G73D;ENSP00000396040:G73D;ENSP00000449680:G73D;ENSP00000448000:G73D	ENSP00000396040:G73D	G	+	2	0	FAM113B	45915331	1.000000	0.71417	0.268000	0.24571	0.018000	0.09664	8.006000	0.88564	2.417000	0.82017	0.655000	0.94253	GGC	PCED1B	-	superfamily_Esterase_SGNH_hydro-type		0.597	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	G	NM_138371		47629064	+1	no_errors	ENST00000432328	ensembl	human	known	70_37	missense	SNP	0.974	A
PCGF5	84333	genome.wustl.edu	37	10	93021139	93021139	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:93021139A>C	ENST00000336126.5	+	7	763	c.531A>C	c.(529-531)aaA>aaC	p.K177N	PCGF5_ENST00000543648.1_Missense_Mutation_p.K177N	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GAACTATTAAAAAATTTCTAA	0.264																																					Colon(178;732 2696 46441 50370)												0													24.0	28.0	26.0					10																	93021139		2178	4254	6432	SO:0001583	missense	84333			AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.531A>C	10.37:g.93021139A>C	ENSP00000337500:p.Lys177Asn		B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K177N	ENST00000336126.5	37	c.531	CCDS7413.1	10	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006199	0.74932	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	T;T	0.53857	0.6;0.6	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.71375	0.3332	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75354	-0.3347	10	0.72032	D	0.01	-23.5085	8.0482	0.30562	0.808:0.0:0.192:0.0	.	177	Q86SE9	PCGF5_HUMAN	N	177	ENSP00000445704:K177N;ENSP00000337500:K177N	ENSP00000337500:K177N	K	+	3	2	PCGF5	93011119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.025000	0.57225	2.159000	0.67721	0.459000	0.35465	AAA	PCGF5	-	NULL		0.264	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF5	HGNC	protein_coding	OTTHUMT00000049363.1	A	NM_032373		93021139	+1	no_errors	ENST00000336126	ensembl	human	known	70_37	missense	SNP	1.000	C
PCIF1	63935	genome.wustl.edu	37	20	44569771	44569771	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:44569771G>A	ENST00000372409.3	+	7	962	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	200					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						CCCGCATCCCGAAGTGGAACT	0.627																																																	0													48.0	45.0	46.0					20																	44569771		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.598G>A	20.37:g.44569771G>A	ENSP00000361486:p.Glu200Lys		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.E200K	ENST00000372409.3	37	c.598	CCDS13388.1	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273245	0.80580	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	5.01	0.66863	.	0.050529	0.85682	D	0.000000	T	0.78886	0.4354	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.81611	-0.0854	9	0.72032	D	0.01	-9.5315	17.4916	0.87705	0.0:0.0:1.0:0.0	.	200	Q9H4Z3	PCIF1_HUMAN	K	200	.	ENSP00000361486:E200K	E	+	1	0	PCIF1	44003178	1.000000	0.71417	0.864000	0.33941	0.235000	0.25334	9.473000	0.97714	2.606000	0.88127	0.655000	0.94253	GAA	PCIF1	-	NULL		0.627	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	G	NM_022104		44569771	+1	no_errors	ENST00000372409	ensembl	human	known	70_37	missense	SNP	1.000	A
PCLO	27445	genome.wustl.edu	37	7	82763807	82763807	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:82763807C>A	ENST00000333891.9	-	3	3396	c.3059G>T	c.(3058-3060)aGa>aTa	p.R1020I	PCLO_ENST00000423517.2_Missense_Mutation_p.R1020I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTTCTGTTCTTTTTACTGT	0.433																																																	0													86.0	84.0	85.0					7																	82763807		1837	4083	5920	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3059G>T	7.37:g.82763807C>A	ENSP00000334319:p.Arg1020Ile			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.R1020I	ENST00000333891.9	37	c.3059	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	9.067	0.996021	0.19043	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.76060	-0.99;-0.99	6.0	2.13	0.27403	.	.	.	.	.	T	0.61739	0.2371	L	0.36672	1.1	0.54753	D	0.999985	B;B	0.12630	0.003;0.006	B;B	0.15052	0.012;0.012	T	0.54463	-0.8290	9	0.87932	D	0	.	6.917	0.24365	0.1248:0.6816:0.0:0.1936	.	1020;1020	Q9Y6V0-5;Q9Y6V0-6	.;.	I	966;1020;1020	ENSP00000334319:R1020I;ENSP00000388393:R1020I	ENSP00000334319:R1020I	R	-	2	0	PCLO	82601743	0.446000	0.25665	0.974000	0.42286	0.830000	0.47004	0.883000	0.28200	0.110000	0.17919	-0.140000	0.14226	AGA	PCLO	-	superfamily_Znf_FYVE_PHD		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82763807	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.854	A
PCNP	57092	genome.wustl.edu	37	3	101311687	101311687	+	3'UTR	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:101311687G>A	ENST00000265260.3	+	0	748				PCNP_ENST00000469941.1_3'UTR|PCNP_ENST00000486406.1_3'UTR|PCNP_ENST00000296024.5_3'UTR	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein						cell cycle (GO:0007049)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)				large_intestine(1)|lung(1)	2						TATCTTTGGAGCCGCTTTTTT	0.289																																																	0																																										SO:0001624	3_prime_UTR_variant	57092				CCDS2942.1	3q12.3	2006-03-09			ENSG00000081154	ENSG00000081154			30023	protein-coding gene	gene with protein product		615210				12176013	Standard	NM_020357		Approved		uc003dva.3	Q8WW12	OTTHUMG00000159108	ENST00000265260.3:c.*90G>A	3.37:g.101311687G>A			B2RBE7|D3DN52|Q53GF3|Q6AI44|Q96CU3|Q9NS81	RNA	SNP	-	NULL	ENST00000265260.3	37	NULL	CCDS2942.1	3																																																																																			PCNP	-	-		0.289	PCNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNP	HGNC	protein_coding	OTTHUMT00000353338.2	G	NM_020357		101311687	+1	no_errors	ENST00000486406	ensembl	human	known	70_37	rna	SNP	1.000	A
PCNX	22990	genome.wustl.edu	37	14	71575464	71575464	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:71575464C>T	ENST00000304743.2	+	34	6891	c.6445C>T	c.(6445-6447)Cgg>Tgg	p.R2149W	PCNX_ENST00000238570.5_Missense_Mutation_p.R2077W|PCNX_ENST00000439984.3_Missense_Mutation_p.R2038W|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2149	Ser-rich.					integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGTGCCTTGTCGGCGCTCTTC	0.557																																																	0													76.0	71.0	73.0					14																	71575464		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6445C>T	14.37:g.71575464C>T	ENSP00000304192:p.Arg2149Trp		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.R2149W	ENST00000304743.2	37	c.6445	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910386	0.52439	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.12039	3.11;3.17;2.72	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.60455	1.87	0.33777	D	0.623827	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.993	T	0.37526	-0.9702	10	0.87932	D	0	.	15.3096	0.74019	0.1398:0.8601:0.0:0.0	.	2077;2038;2149	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	W	2149;2077;2038	ENSP00000304192:R2149W;ENSP00000238570:R2077W;ENSP00000396617:R2038W	ENSP00000238570:R2077W	R	+	1	2	PCNX	70645217	0.998000	0.40836	0.999000	0.59377	0.101000	0.19017	3.896000	0.56266	2.868000	0.98415	0.557000	0.71058	CGG	PCNX	-	NULL		0.557	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	C	NM_014982		71575464	+1	no_errors	ENST00000304743	ensembl	human	known	70_37	missense	SNP	0.997	T
PDCD1LG2	80380	genome.wustl.edu	37	9	5549468	5549468	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:5549468C>A	ENST00000397747.3	+	4	743	c.495C>A	c.(493-495)agC>agA	p.S165R	PDCD1LG2_ENST00000397745.2_Intron	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	165	Ig-like C2-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		CCAACACCAGCCACTCCAGGA	0.557																																																	0													59.0	60.0	59.0					9																	5549468		2203	4300	6503	SO:0001583	missense	80380			AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	18731	protein-coding gene	gene with protein product	"""B7 dendritic cell molecule"""	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.495C>A	9.37:g.5549468C>A	ENSP00000380855:p.Ser165Arg		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Missense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.S165R	ENST00000397747.3	37	c.495	CCDS6465.1	9	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485665	0.63962	.	.	ENSG00000197646	ENST00000397747	T	0.03152	4.03	5.16	2.31	0.28768	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.269351	0.31821	N	0.007010	T	0.11367	0.0277	M	0.83483	2.645	0.48830	D	0.999711	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.58780	0.845;0.845;0.845	T	0.01819	-1.1267	10	0.48119	T	0.1	-5.5138	3.9538	0.09380	0.0:0.5325:0.1789:0.2886	.	154;165;165	Q2LC89;A4GW21;Q9BQ51	.;.;PD1L2_HUMAN	R	165	ENSP00000380855:S165R	ENSP00000380855:S165R	S	+	3	2	PDCD1LG2	5539468	0.139000	0.22563	0.992000	0.48379	0.843000	0.47879	0.249000	0.18216	0.582000	0.29556	0.655000	0.94253	AGC	PDCD1LG2	-	pfam_CD80_C2-set,pfscan_Ig-like		0.557	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1LG2	HGNC	protein_coding	OTTHUMT00000051634.1	C	NM_025239		5549468	+1	no_errors	ENST00000397747	ensembl	human	known	70_37	missense	SNP	0.831	A
PCSK5	5125	genome.wustl.edu	37	9	78953342	78953342	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:78953342C>A	ENST00000545128.1	+	34	5402	c.4864C>A	c.(4864-4866)Ccg>Acg	p.P1622T		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1622	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAGATGCCATCCGACTTGTGA	0.443																																																	0													55.0	48.0	50.0					9																	78953342		876	1991	2867	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4864C>A	9.37:g.78953342C>A	ENSP00000446280:p.Pro1622Thr		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.P1622T	ENST00000545128.1	37	c.4864	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628405	0.46944	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.64085	-0.08;-0.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.75150	2.29	0.58432	D	0.999998	.	.	.	.	.	.	T	0.67090	-0.5758	8	0.13470	T	0.59	-12.3863	19.7325	0.96188	0.0:1.0:0.0:0.0	.	.	.	.	T	1622;1352;1322	ENSP00000446280:P1622T;ENSP00000411654:P1322T	ENSP00000365945:P1352T	P	+	1	0	PCSK5	78143162	1.000000	0.71417	0.749000	0.31150	0.210000	0.24377	3.661000	0.54503	2.763000	0.94921	0.563000	0.77884	CCG	PCSK5	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom		0.443	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		C			78953342	+1	no_errors	ENST00000545128	ensembl	human	known	70_37	missense	SNP	0.978	A
PDCD2	5134	genome.wustl.edu	37	6	170892755	170892755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:170892755C>A	ENST00000541970.1	-	2	442	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	PDCD2_ENST00000542896.1_Nonsense_Mutation_p.E122*|PDCD2_ENST00000392090.2_Nonsense_Mutation_p.E89*|PDCD2_ENST00000443345.2_Nonsense_Mutation_p.E89*|PDCD2_ENST00000453163.2_Nonsense_Mutation_p.E122*|PDCD2_ENST00000537445.1_Nonsense_Mutation_p.E89*	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	122					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		CACACTGATTCTCCTGTTTCT	0.438																																					Colon(60;1476 1726 39478)												0													65.0	63.0	64.0					6																	170892755		2203	4300	6503	SO:0001587	stop_gained	5134			AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"""Zinc fingers, MYND-type"""	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.364G>T	6.37:g.170892755C>A	ENSP00000439467:p.Glu122*		E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Nonsense_Mutation	SNP	pfam_PDCD2_C,pfam_Znf_MYND,pfscan_Znf_MYND	p.E122*	ENST00000541970.1	37	c.364	CCDS5316.1	6	.	.	.	.	.	.	.	.	.	.	.	28.5	4.928552	0.92389	.	.	ENSG00000071994	ENST00000541970;ENST00000392090;ENST00000542896;ENST00000453163;ENST00000537445;ENST00000443345	.	.	.	4.77	1.98	0.26296	.	0.937055	0.09023	N	0.859844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.066	6.5029	0.22178	0.0:0.5583:0.2788:0.1629	.	.	.	.	X	122;89;122;122;89;89	.	.	E	-	1	0	PDCD2	170734680	0.000000	0.05858	0.001000	0.08648	0.955000	0.61496	0.662000	0.25038	0.100000	0.17581	-0.241000	0.12123	GAA	PDCD2	-	NULL		0.438	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2	HGNC	protein_coding	OTTHUMT00000043269.2	C	NM_002598		170892755	-1	no_errors	ENST00000541970	ensembl	human	known	70_37	nonsense	SNP	0.000	A
PDCD6IP	10015	genome.wustl.edu	37	3	33866819	33866819	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:33866819A>T	ENST00000307296.3	+	5	980	c.603A>T	c.(601-603)ttA>ttT	p.L201F	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.L201F			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	201	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TATTTTTTTTAAAAGCCACAA	0.358																																																	0													92.0	99.0	96.0					3																	33866819		2203	4300	6503	SO:0001583	missense	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.603A>T	3.37:g.33866819A>T	ENSP00000307387:p.Leu201Phe		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.L201F	ENST00000307296.3	37	c.603	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129070	0.56721	.	.	ENSG00000170248	ENST00000307296;ENST00000457054;ENST00000413073	T;T;T	0.19250	2.16;2.16;2.16	5.6	4.39	0.52855	BRO1 domain (3);	0.000000	0.64402	D	0.000001	T	0.13884	0.0336	L	0.38692	1.165	0.80722	D	1	B;B;B	0.30406	0.278;0.278;0.278	B;B;B	0.28553	0.091;0.036;0.056	T	0.06734	-1.0810	10	0.12766	T	0.61	-6.917	8.766	0.34702	0.7785:0.1412:0.0803:0.0	.	201;201;201	C5MQH7;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	F	201;201;151	ENSP00000307387:L201F;ENSP00000411825:L201F;ENSP00000406693:L151F	ENSP00000307387:L201F	L	+	3	2	PDCD6IP	33841823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.900000	0.39828	2.141000	0.66446	0.533000	0.62120	TTA	PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.358	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	A			33866819	+1	no_errors	ENST00000457054	ensembl	human	known	70_37	missense	SNP	1.000	T
PDCD6IP	10015	genome.wustl.edu	37	3	33906839	33906839	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:33906839G>A	ENST00000307296.3	+	17	2726	c.2349G>A	c.(2347-2349)gcG>gcA	p.A783A	PDCD6IP_ENST00000457054.2_Silent_p.A788A			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	783	Interaction with EIAV p9.|Pro-rich.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GGACTGCTGCGCCAGCTCCAT	0.617																																																	0													49.0	46.0	47.0					3																	33906839		2203	4300	6503	SO:0001819	synonymous_variant	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.2349G>A	3.37:g.33906839G>A			C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.A788	ENST00000307296.3	37	c.2364	CCDS2660.1	3																																																																																			PDCD6IP	-	NULL		0.617	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	G			33906839	+1	no_errors	ENST00000457054	ensembl	human	known	70_37	silent	SNP	0.000	A
PDCD7	10081	genome.wustl.edu	37	15	65412231	65412231	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:65412231T>C	ENST00000204549.4	-	3	1125	c.1071A>G	c.(1069-1071)aaA>aaG	p.K357K		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	357					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TTTTAATGAGTTTTCTCAGTC	0.423																																																	0													102.0	116.0	111.0					15																	65412231		2202	4299	6501	SO:0001819	synonymous_variant	10081			AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.1071A>G	15.37:g.65412231T>C			Q96AK8|Q9Y6D7	Silent	SNP	NULL	p.K357	ENST00000204549.4	37	c.1071	CCDS10201.1	15																																																																																			PDCD7	-	NULL		0.423	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD7	HGNC	protein_coding	OTTHUMT00000256784.2	T	NM_005707		65412231	-1	no_errors	ENST00000204549	ensembl	human	known	70_37	silent	SNP	0.987	C
PDE3A	5139	genome.wustl.edu	37	12	20799820	20799820	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:20799820C>A	ENST00000359062.3	+	12	2541	c.2501C>A	c.(2500-2502)gCc>gAc	p.A834D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	834	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GTGGCTGCAGCCATGCACGAT	0.413																																																	0													168.0	157.0	161.0					12																	20799820		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2501C>A	12.37:g.20799820C>A	ENSP00000351957:p.Ala834Asp		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.A834D	ENST00000359062.3	37	c.2501	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.203851	0.95033	.	.	ENSG00000172572	ENST00000359062	T	0.78481	-1.18	5.85	5.85	0.93711	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.104467	0.64402	D	0.000003	D	0.92054	0.7482	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93408	0.6766	10	0.87932	D	0	.	20.1612	0.98133	0.0:1.0:0.0:0.0	.	834	Q14432	PDE3A_HUMAN	D	834	ENSP00000351957:A834D	ENSP00000351957:A834D	A	+	2	0	PDE3A	20691087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.391000	0.79828	2.766000	0.95052	0.643000	0.83706	GCC	PDE3A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.413	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	C			20799820	+1	no_errors	ENST00000359062	ensembl	human	known	70_37	missense	SNP	1.000	A
PDE4B	5142	genome.wustl.edu	37	1	66458699	66458699	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:66458699G>A	ENST00000329654.4	+	3	468				PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000423207.2_Missense_Mutation_p.G37E	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)	AGATTACCAGGAAACAGACCT	0.413																																																	0													105.0	100.0	102.0					1																	66458699		2203	4300	6503	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.281+74181G>A	1.37:g.66458699G>A			A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.G37E	ENST00000329654.4	37	c.110	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911024	0.52439	.	.	ENSG00000184588	ENST00000423207	T	0.68025	-0.3	5.52	4.6	0.57074	.	.	.	.	.	T	0.68274	0.2983	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67229	-0.5723	9	0.29301	T	0.29	.	16.5352	0.84371	0.0:0.1307:0.8693:0.0	.	42	Q59GM8	.	E	37	ENSP00000392947:G37E	ENSP00000392947:G37E	G	+	2	0	PDE4B	66231287	1.000000	0.71417	0.989000	0.46669	0.417000	0.31264	6.804000	0.75186	1.557000	0.49525	0.650000	0.86243	GGA	PDE4B	-	NULL		0.413	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	G	NM_002600		66458699	+1	no_errors	ENST00000423207	ensembl	human	known	70_37	missense	SNP	1.000	A
PDE4C	5143	genome.wustl.edu	37	19	18331347	18331347	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:18331347G>T	ENST00000355502.3	-	10	1467				PDE4C_ENST00000594465.3_Intron|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000447275.3_Intron|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Intron|PDE4C_ENST00000262805.12_Intron|PDE4C_ENST00000597297.1_Intron|PDE4C_ENST00000539010.1_Intron			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific						cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGCAGTCAGGGGCCTGCCCAA	0.652																																																	0													48.0	36.0	40.0					19																	18331347		2202	4300	6502	SO:0001627	intron_variant	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.596-22C>A	19.37:g.18331347G>T			B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	RNA	SNP	-	NULL	ENST00000355502.3	37	NULL	CCDS12373.1	19																																																																																			PDE4C	-	-		0.652	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	G			18331347	-1	no_errors	ENST00000593594	ensembl	human	known	70_37	rna	SNP	0.000	T
PDE4DIP	9659	genome.wustl.edu	37	1	144952346	144952346	+	Missense_Mutation	SNP	G	G	A	rs150616778		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:144952346G>A	ENST00000369354.3	-	4	562	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R125W|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.R125W|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R262W|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R125W|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R262W|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R262W|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R125W|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R191W			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	125					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGCCATCCGCGCAGCTTCA	0.488			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													10.0	11.0	11.0					1																	144952346		2105	4173	6278	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.373C>T	1.37:g.144952346G>A	ENSP00000358360:p.Arg125Trp		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.R125W	ENST00000369354.3	37	c.373	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	8.843	0.942817	0.18281	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536;ENST00000369347;ENST00000369348;ENST00000533259	T;T;T;T;T;T;T;T;T;T;T	0.35421	4.6;4.73;4.71;4.71;4.7;3.74;3.74;1.74;1.74;2.96;1.31	4.78	1.8	0.24995	.	.	.	.	.	T	0.33118	0.0852	L	0.56769	1.78	0.24957	N	0.991751	B;D;D	0.89917	0.015;1.0;0.998	B;D;P	0.69307	0.005;0.963;0.634	T	0.09185	-1.0686	9	0.87932	D	0	.	4.7987	0.13284	0.0851:0.1488:0.6123:0.1538	.	125;191;125	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	W	191;125;125;262;262;125;125;191;128;125;262;48	ENSP00000327209:R191W;ENSP00000358360:R125W;ENSP00000358363:R125W;ENSP00000435654:R262W;ENSP00000358366:R262W;ENSP00000358357:R125W;ENSP00000358355:R125W;ENSP00000435920:R128W;ENSP00000358353:R125W;ENSP00000358354:R262W;ENSP00000437202:R48W	ENSP00000327209:R191W	R	-	1	2	PDE4DIP	143663703	0.000000	0.05858	0.106000	0.21319	0.813000	0.45954	0.265000	0.18515	0.205000	0.20568	0.561000	0.74099	CGG	PDE4DIP	-	NULL		0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144952346	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	0.257	A
PDE8A	5151	genome.wustl.edu	37	15	85619134	85619134	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:85619134T>G	ENST00000310298.4	+	5	728	c.476T>G	c.(475-477)gTt>gGt	p.V159G	PDE8A_ENST00000339708.5_Missense_Mutation_p.V159G|PDE8A_ENST00000557957.1_Missense_Mutation_p.V87G|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Missense_Mutation_p.V159G			O60658	PDE8A_HUMAN	phosphodiesterase 8A	159					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ACAGTTATTGTTGGTGTAGTA	0.294																																																	0													279.0	279.0	279.0					15																	85619134		2202	4299	6501	SO:0001583	missense	5151			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.476T>G	15.37:g.85619134T>G	ENSP00000311453:p.Val159Gly		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.V159G	ENST00000310298.4	37	c.476	CCDS10336.1	15	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256516	0.80246	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.53640	0.61;0.61;0.61	5.01	5.01	0.66863	Signal transduction response regulator, receiver domain (1);	1.468920	0.04060	N	0.306186	T	0.69513	0.3119	M	0.71581	2.175	0.80722	D	1	D;D	0.56746	0.959;0.977	P;P	0.61722	0.761;0.893	T	0.52487	-0.8569	10	0.87932	D	0	.	12.9892	0.58608	0.0:0.0:0.0:1.0	.	159;159	O60658-2;O60658	.;PDE8A_HUMAN	G	159	ENSP00000311453:V159G;ENSP00000378056:V159G;ENSP00000340679:V159G	ENSP00000311453:V159G	V	+	2	0	PDE8A	83420138	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.101000	0.76997	2.012000	0.59069	0.491000	0.48974	GTT	PDE8A	-	pfam_Sig_transdc_resp-reg_receiver,superfamily_CheY-like_superfamily		0.294	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8A	HGNC	protein_coding	OTTHUMT00000309018.1	T	NM_002605		85619134	+1	no_errors	ENST00000310298	ensembl	human	known	70_37	missense	SNP	1.000	G
PDGFRA	5156	genome.wustl.edu	37	4	55130043	55130043	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:55130043G>A	ENST00000257290.5	+	4	908	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	PDGFRA_ENST00000508170.1_Missense_Mutation_p.V193I|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	193	Ig-like C2-type 2.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V193I(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGAGGCCACCGTCAAAGGAAA	0.443			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	1	Substitution - Missense(1)	lung(1)											86.0	84.0	85.0					4																	55130043		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.577G>A	4.37:g.55130043G>A	ENSP00000257290:p.Val193Ile		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.V193I	ENST00000257290.5	37	c.577	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	G	2.689	-0.273592	0.05679	.	.	ENSG00000134853	ENST00000257290;ENST00000508170	T;T	0.04706	3.57;3.57	5.64	2.55	0.30701	Immunoglobulin-like fold (1);	0.297707	0.18177	U	0.149269	T	0.02533	0.0077	N	0.17345	0.48	0.09310	N	1	B;B;B	0.32620	0.004;0.042;0.378	B;B;B	0.28385	0.006;0.009;0.089	T	0.46162	-0.9211	10	0.10377	T	0.69	.	7.4549	0.27261	0.1547:0.0:0.7087:0.1366	.	193;193;193	P16234-3;P16234;P16234-2	.;PGFRA_HUMAN;.	I	193	ENSP00000257290:V193I;ENSP00000425648:V193I	ENSP00000257290:V193I	V	+	1	0	PDGFRA	54824800	0.555000	0.26530	0.019000	0.16419	0.716000	0.41182	0.894000	0.28350	0.669000	0.31146	0.462000	0.41574	GTC	PDGFRA	-	smart_Ig_sub,pirsf_Tyr_kinase_CSF1/PDGF_rcpt		0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	G	NM_006206		55130043	+1	no_errors	ENST00000257290	ensembl	human	known	70_37	missense	SNP	0.006	A
PDGFRB	5159	genome.wustl.edu	37	5	149501549	149501549	+	Silent	SNP	G	G	A	rs555800957	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:149501549G>A	ENST00000261799.4	-	16	2707	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCACCGACTCGTCCTTGCTCA	0.547			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								G|||	2	0.000399361	0.0	0.0	5008	,	,		21480	0.0		0.0	False		,,,				2504	0.002							Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													268.0	198.0	222.0					5																	149501549		2203	4300	6503	SO:0001819	synonymous_variant	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2238C>T	5.37:g.149501549G>A			B5A957|Q8N5L4	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.D746	ENST00000261799.4	37	c.2238	CCDS4303.1	5																																																																																			PDGFRB	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom		0.547	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	G	NM_002609		149501549	-1	no_errors	ENST00000261799	ensembl	human	known	70_37	silent	SNP	0.317	A
PDHX	8050	genome.wustl.edu	37	11	34999698	34999698	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:34999698T>G	ENST00000227868.4	+	8	1076	c.992T>G	c.(991-993)tTt>tGt	p.F331C	PDHX_ENST00000448838.3_Missense_Mutation_p.F316C|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	331					cellular metabolic process (GO:0044237)|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)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GTAAATGATTTTATCATCAAG	0.294																																																	0													133.0	136.0	135.0					11																	34999698		2202	4292	6494	SO:0001583	missense	8050			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.992T>G	11.37:g.34999698T>G	ENSP00000227868:p.Phe331Cys		B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.F331C	ENST00000227868.4	37	c.992	CCDS7896.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.67|19.67	3.870889|3.870889	0.72065|0.72065	.|.	.|.	ENSG00000110435|ENSG00000110435	ENST00000448838;ENST00000227868|ENST00000526309	T;T|.	0.52295|.	0.67;0.67|.	5.74|5.74	5.74|5.74	0.90152|0.90152	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80082|0.80082	0.4558|0.4558	M|M	0.88512|0.88512	2.96|2.96	0.80722|0.80722	D|D	1|1	P;P|.	0.47350|.	0.894;0.701|.	P;P|.	0.58873|.	0.847;0.617|.	T|T	0.83330|0.83330	-0.0013|-0.0013	10|5	0.87932|.	D|.	0|.	-20.3083|-20.3083	13.9889|13.9889	0.64353|0.64353	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	316;331|.	E9PB14;O00330|.	.;ODPX_HUMAN|.	C|V	316;331|19	ENSP00000389404:F316C;ENSP00000227868:F331C|.	ENSP00000227868:F331C|.	F|L	+|+	2|1	0|2	PDHX|PDHX	34956274|34956274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.226000|7.226000	0.78060|0.78060	2.183000|2.183000	0.69458|0.69458	0.533000|0.533000	0.62120|0.62120	TTT|TTA	PDHX	-	pfam_2-oxoacid_DH_actylTfrase		0.294	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHX	HGNC	protein_coding	OTTHUMT00000390017.1	T	NM_003477		34999698	+1	no_errors	ENST00000227868	ensembl	human	known	70_37	missense	SNP	1.000	G
PDPK1	5170	genome.wustl.edu	37	16	2647264	2647264	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:2647264C>A	ENST00000342085.4	+	13	1691	c.1542C>A	c.(1540-1542)ttC>ttA	p.F514L	CTD-3126B10.1_ENST00000562166.1_RNA|PDPK1_ENST00000268673.7_Missense_Mutation_p.F387L|PDPK1_ENST00000441549.3_Intron|PDPK1_ENST00000389224.3_Missense_Mutation_p.F487L|PDPK1_ENST00000354836.5_Missense_Mutation_p.F490L	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	514	PH.				actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TTAAAACTTTCTTTGTCCACA	0.483																																																	0													80.0	81.0	81.0					16																	2647264		2198	4300	6498	SO:0001583	missense	5170			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1542C>A	16.37:g.2647264C>A	ENSP00000344220:p.Phe514Leu		H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	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.F514L	ENST00000342085.4	37	c.1542	CCDS10472.1	16	.	.	.	.	.	.	.	.	.	.	-	18.55	3.648099	0.67358	.	.	ENSG00000140992	ENST00000342085;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.01	2.91	0.33838	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.77557	0.98;0.99	T	0.74140	-0.3761	10	0.87932	D	0	-27.1403	4.9093	0.13814	0.0:0.6309:0.0:0.3691	.	387;514	O15530-4;O15530	.;PDPK1_HUMAN	L	514;387;490;487	ENSP00000344220:F514L;ENSP00000268673:F387L;ENSP00000346895:F490L;ENSP00000373876:F487L	ENSP00000268673:F387L	F	+	3	2	PDPK1	2587265	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.964000	0.40462	1.335000	0.45486	0.655000	0.94253	TTC	PDPK1	-	NULL		0.483	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPK1	HGNC	protein_coding	OTTHUMT00000250831.3	C			2647264	+1	no_errors	ENST00000342085	ensembl	human	known	70_37	missense	SNP	1.000	A
PDZD2	23037	genome.wustl.edu	37	5	32053919	32053919	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:32053919A>G	ENST00000438447.1	+	10	2218	c.1830A>G	c.(1828-1830)ggA>ggG	p.G610G	PDZD2_ENST00000282493.3_Silent_p.G610G			O15018	PDZD2_HUMAN	PDZ domain containing 2	610	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCATTCGTGGACAGATGGGGA	0.488																																																	0													206.0	182.0	190.0					5																	32053919		2203	4300	6503	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1830A>G	5.37:g.32053919A>G			Q9BXD4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G610	ENST00000438447.1	37	c.1830	CCDS34137.1	5																																																																																			PDZD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.488	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	A			32053919	+1	no_errors	ENST00000282493	ensembl	human	known	70_37	silent	SNP	0.945	G
PDZD7	79955	genome.wustl.edu	37	10	102783339	102783339	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:102783339C>A	ENST00000370215.3	-	4	621	c.396G>T	c.(394-396)aaG>aaT	p.K132N	PDZD7_ENST00000470414.1_Missense_Mutation_p.K132N	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	132	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCTCCGTGATCTTGTCCCCCA	0.652																																																	0													75.0	63.0	67.0					10																	102783339		2203	4300	6503	SO:0001583	missense	79955			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.396G>T	10.37:g.102783339C>A	ENSP00000359234:p.Lys132Asn		D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K132N	ENST00000370215.3	37	c.396	CCDS31269.1	10	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710863	0.68730	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.31769	1.48	5.05	3.93	0.45458	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	M	0.78344	2.41	0.46725	D	0.999173	D;P	0.56521	0.976;0.873	D;B	0.69479	0.964;0.306	T	0.58440	-0.7636	10	0.72032	D	0.01	.	12.2698	0.54700	0.0:0.8534:0.0:0.1466	.	132;132	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	N	132	ENSP00000359234:K132N	ENSP00000359234:K132N	K	-	3	2	PDZD7	102773329	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.952000	0.40343	2.337000	0.79520	0.561000	0.74099	AAG	PDZD7	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.652	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	C	NM_024895		102783339	-1	no_errors	ENST00000370215	ensembl	human	known	70_37	missense	SNP	1.000	A
PDZD9	255762	genome.wustl.edu	37	16	21995716	21995716	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:21995716A>G	ENST00000424898.2	-	4	729	c.667T>C	c.(667-669)Tgg>Cgg	p.W223R	PDZD9_ENST00000286143.6_Missense_Mutation_p.W161R|PDZD9_ENST00000537222.2_Missense_Mutation_p.W163R			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	223										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						ACCATTATCCAGTATGGAGAA	0.428																																																	0													266.0	251.0	256.0					16																	21995716		2198	4300	6498	SO:0001583	missense	255762			BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.667T>C	16.37:g.21995716A>G	ENSP00000400514:p.Trp223Arg		F5GWW8	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.W223R	ENST00000424898.2	37	c.667		16	.	.	.	.	.	.	.	.	.	.	A	19.39	3.818565	0.71028	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143	T	0.69806	-0.43	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000034	T	0.79131	0.4394	M	0.66939	2.045	0.40531	D	0.980935	D	0.89917	1.0	D	0.91635	0.999	T	0.81944	-0.0701	10	0.87932	D	0	-5.6498	11.8674	0.52501	1.0:0.0:0.0:0.0	.	161	Q8IXQ8-2	.	R	223;163;161	ENSP00000400514:W223R	ENSP00000286143:W161R	W	-	1	0	PDZD9	21903217	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.222000	0.65277	2.056000	0.61249	0.460000	0.39030	TGG	PDZD9	-	NULL		0.428	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PDZD9	HGNC	protein_coding	OTTHUMT00000381652.1	A	NM_173806		21995716	-1	no_errors	ENST00000424898	ensembl	human	known	70_37	missense	SNP	1.000	G
PER3	8863	genome.wustl.edu	37	1	7880210	7880210	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:7880210G>T	ENST00000361923.2	+	14	1845	c.1670G>T	c.(1669-1671)aGa>aTa	p.R557I	PER3_ENST00000377532.3_Missense_Mutation_p.R565I|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	557	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTGAAAAGAAAGTGTATC	0.403																																																	0													130.0	120.0	123.0					1																	7880210		2203	4300	6503	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1670G>T	1.37:g.7880210G>T	ENSP00000355031:p.Arg557Ile		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.R557I	ENST00000361923.2	37	c.1670	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915617	0.73098	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.23754	1.98;1.89	4.17	3.26	0.37387	.	0.631743	0.13784	N	0.363011	T	0.56848	0.2013	M	0.90309	3.105	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;0.999;1.0;0.997	T	0.62120	-0.6921	10	0.87932	D	0	.	11.4206	0.49978	0.0878:0.0:0.9122:0.0	.	557;565;565;557	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	I	565;557	ENSP00000366755:R565I;ENSP00000355031:R557I	ENSP00000355031:R557I	R	+	2	0	PER3	7802797	1.000000	0.71417	0.542000	0.28115	0.950000	0.60333	6.610000	0.74178	1.114000	0.41781	0.650000	0.86243	AGA	PER3	-	NULL		0.403	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	G	NM_016831		7880210	+1	no_errors	ENST00000361923	ensembl	human	known	70_37	missense	SNP	0.995	T
PER3	8863	genome.wustl.edu	37	1	7897130	7897130	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:7897130C>A	ENST00000361923.2	+	20	3618	c.3443C>A	c.(3442-3444)tCt>tAt	p.S1148Y	PER3_ENST00000377532.3_Missense_Mutation_p.S1157Y	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1148	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGTTTTCTCATGGGCAA	0.403																																																	0													65.0	62.0	63.0					1																	7897130		2203	4300	6503	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3443C>A	1.37:g.7897130C>A	ENSP00000355031:p.Ser1148Tyr		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.S1148Y	ENST00000361923.2	37	c.3443	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139752	0.56936	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.18502	2.21;2.21	4.26	4.26	0.50523	Period circadian-like, C-terminal (1);	0.425026	0.22718	N	0.056499	T	0.36468	0.0968	L	0.52011	1.625	0.37317	D	0.909382	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.992;0.982;0.981	T	0.40403	-0.9565	10	0.87932	D	0	.	15.8585	0.79005	0.0:1.0:0.0:0.0	.	197;1157;1148	B4DR65;P56645-2;P56645	.;.;PER3_HUMAN	Y	1157;1148;341	ENSP00000366755:S1157Y;ENSP00000355031:S1148Y	ENSP00000355031:S1148Y	S	+	2	0	PER3	7819717	0.641000	0.27251	0.708000	0.30435	0.795000	0.44927	2.588000	0.46137	2.203000	0.70933	0.460000	0.39030	TCT	PER3	-	pfam_Period_circadian-like_C		0.403	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	C	NM_016831		7897130	+1	no_errors	ENST00000361923	ensembl	human	known	70_37	missense	SNP	0.946	A
PEX5L	51555	genome.wustl.edu	37	3	179593175	179593175	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:179593175G>A	ENST00000467460.1	-	6	926	c.596C>T	c.(595-597)tCc>tTc	p.S199F	PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000472994.1_Missense_Mutation_p.S140F|PEX5L_ENST00000468741.1_Missense_Mutation_p.S7F|PEX5L_ENST00000464614.1_Missense_Mutation_p.S91F|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.S91F|PEX5L_ENST00000476138.1_Missense_Mutation_p.S156F|PEX5L_ENST00000485199.1_Missense_Mutation_p.S164F|PEX5L_ENST00000263962.8_Missense_Mutation_p.S197F|PEX5L_ENST00000465751.1_Missense_Mutation_p.S175F	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	199					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCTAGATGAGGATGATTTTCT	0.378																																																	0													210.0	185.0	193.0					3																	179593175		2203	4300	6503	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.596C>T	3.37:g.179593175G>A	ENSP00000419975:p.Ser199Phe		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S199F	ENST00000467460.1	37	c.596	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670900	0.47781	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640;ENST00000469198	D;D;D;D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.53;-2.49;-2.35;-2.54;-2.54;-2.49;-2.55	5.88	4.07	0.47477	.	0.502419	0.23541	N	0.047080	D	0.83580	0.5285	N	0.19112	0.55	0.23607	N	0.997308	B;B;B;B;B;B	0.29590	0.012;0.012;0.104;0.25;0.053;0.052	B;B;B;B;B;B	0.37091	0.023;0.023;0.037;0.241;0.073;0.033	T	0.77830	-0.2442	10	0.59425	D	0.04	-3.5812	13.7757	0.63053	0.0:0.5041:0.4959:0.0	.	140;175;91;197;164;199	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	F	199;197;164;197;91;7;156;87;140;91;175;7;7;188	ENSP00000419975:S199F;ENSP00000263962:S197F;ENSP00000418440:S164F;ENSP00000376420:S91F;ENSP00000418665:S7F;ENSP00000420555:S156F;ENSP00000418054:S140F;ENSP00000417270:S91F;ENSP00000419348:S175F	ENSP00000263962:S197F	S	-	2	0	PEX5L	181075869	0.991000	0.36638	0.993000	0.49108	0.947000	0.59692	1.866000	0.39489	1.503000	0.48686	-0.139000	0.14373	TCC	PEX5L	-	NULL		0.378	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	G	NM_016559		179593175	-1	no_errors	ENST00000467460	ensembl	human	known	70_37	missense	SNP	0.976	A
PFDN1	5201	genome.wustl.edu	37	5	139680016	139680016	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:139680016T>C	ENST00000261813.4	-	2	232	c.185A>G	c.(184-186)gAa>gGa	p.E62G	PFDN1_ENST00000524074.1_Missense_Mutation_p.E62G|PFDN1_ENST00000514611.1_5'UTR|PFDN1_ENST00000510217.1_Intron	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	62					'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537)	prefoldin complex (GO:0016272)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTACACCTTCATACATGTT	0.363																																																	0													238.0	215.0	223.0					5																	139680016		2203	4300	6503	SO:0001583	missense	5201			Y17392	CCDS4222.1	5q31	2008-02-05	2006-02-24		ENSG00000113068	ENSG00000113068			8866	protein-coding gene	gene with protein product		604897	"""prefoldin 1"""			9630229	Standard	XM_005268465		Approved	PFD1	uc003lff.1	O60925	OTTHUMG00000129249	ENST00000261813.4:c.185A>G	5.37:g.139680016T>C	ENSP00000261813:p.Glu62Gly		B2RD02|Q53F95|Q96EX6	Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.E62G	ENST00000261813.4	37	c.185	CCDS4222.1	5	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762508	0.89932	.	.	ENSG00000113068	ENST00000261813;ENST00000524074	T;T	0.48522	0.81;0.81	5.95	5.95	0.96441	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.71492	0.3346	M	0.89095	3.005	0.80722	D	1	D	0.56968	0.978	P	0.60286	0.872	T	0.77416	-0.2596	10	0.66056	D	0.02	-16.9506	16.4323	0.83853	0.0:0.0:0.0:1.0	.	62	O60925	PFD1_HUMAN	G	62	ENSP00000261813:E62G;ENSP00000428707:E62G	ENSP00000261813:E62G	E	-	2	0	PFDN1	139660200	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.465000	0.80898	2.281000	0.76405	0.528000	0.53228	GAA	PFDN1	-	pfam_PFD_beta-like,superfamily_Prefoldin		0.363	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN1	HGNC	protein_coding	OTTHUMT00000251354.3	T	NM_002622		139680016	-1	no_errors	ENST00000261813	ensembl	human	known	70_37	missense	SNP	1.000	C
PFDN5	5204	genome.wustl.edu	37	12	53691642	53691642	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:53691642C>T	ENST00000551018.1	+	4	493	c.216C>T	c.(214-216)gtC>gtT	p.V72V	RP11-680A11.5_ENST00000550263.1_RNA|PFDN5_ENST00000334478.4_Silent_p.V72V|PFDN5_ENST00000351500.3_Silent_p.V27V|PFDN5_ENST00000550846.1_Intron|C12orf10_ENST00000548632.1_5'Flank|C12orf10_ENST00000267103.5_5'Flank|C12orf10_ENST00000549488.1_5'Flank	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	72					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						AGATGTATGTCCCTGGGAAGC	0.512																																																	0													153.0	137.0	143.0					12																	53691642		2203	4300	6503	SO:0001819	synonymous_variant	5204			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"""prefoldin 5"""			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.216C>T	12.37:g.53691642C>T			A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	superfamily_Prefoldin	p.P62S	ENST00000551018.1	37	c.184	CCDS8853.1	12																																																																																			PFDN5	-	NULL		0.512	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN5	HGNC	protein_coding	OTTHUMT00000405368.2	C			53691642	+1	no_errors	ENST00000243040	ensembl	human	known	70_37	missense	SNP	1.000	T
PFKP	5214	genome.wustl.edu	37	10	3147455	3147455	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:3147455C>A	ENST00000381125.4	+	6	741				PFKP_ENST00000381075.2_Intron	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CGTGGAAAGTCCTGAAGGGGC	0.652																																																	0																																										SO:0001627	intron_variant	5214			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.665+104C>A	10.37:g.3147455C>A			B3KS15|Q5VSR7|Q5VSR8	RNA	SNP	-	NULL	ENST00000381125.4	37	NULL	CCDS7059.1	10																																																																																			PFKP	-	-		0.652	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKP	HGNC	protein_coding	OTTHUMT00000046454.1	C	NM_002627		3147455	+1	no_errors	ENST00000460445	ensembl	human	known	70_37	rna	SNP	0.001	A
PGBD1	84547	genome.wustl.edu	37	6	28269225	28269225	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:28269225A>C	ENST00000405948.2	+	7	2014	c.1594A>C	c.(1594-1596)Aat>Cat	p.N532H	PGBD1_ENST00000259883.3_Missense_Mutation_p.N532H	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	532						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AATGAATAAAAATTTCCTCTT	0.348																																																	0													79.0	86.0	83.0					6																	28269225		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1594A>C	6.37:g.28269225A>C	ENSP00000385213:p.Asn532His		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN	p.N532H	ENST00000405948.2	37	c.1594	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	A	16.38	3.106494	0.56291	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.19250	2.16;2.16	4.66	4.66	0.58398	.	0.233074	0.29876	N	0.010974	T	0.29256	0.0728	M	0.61703	1.905	0.32531	N	0.534894	D	0.65815	0.995	D	0.75484	0.986	T	0.08597	-1.0714	10	0.52906	T	0.07	-17.832	10.6791	0.45804	1.0:0.0:0.0:0.0	.	532	Q96JS3	PGBD1_HUMAN	H	532	ENSP00000385213:N532H;ENSP00000259883:N532H	ENSP00000259883:N532H	N	+	1	0	PGBD1	28377204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.490000	0.45294	2.087000	0.62958	0.533000	0.62120	AAT	PGBD1	-	NULL		0.348	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	A			28269225	+1	no_errors	ENST00000259883	ensembl	human	known	70_37	missense	SNP	1.000	C
PGD	5226	genome.wustl.edu	37	1	10460491	10460491	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:10460491C>A	ENST00000270776.8	+	3	164	c.126C>A	c.(124-126)ttC>ttA	p.F42L	PGD_ENST00000541529.1_Missense_Mutation_p.F42L|PGD_ENST00000538557.1_Missense_Mutation_p.F29L	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	42					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	TTGATGATTTCTTGGCCAATG	0.502																																																	0													118.0	110.0	112.0					1																	10460491		2203	4300	6503	SO:0001583	missense	5226			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.126C>A	1.37:g.10460491C>A	ENSP00000270776:p.Phe42Leu		A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox	p.F42L	ENST00000270776.8	37	c.126	CCDS113.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.889099|4.889099	0.91814|0.91814	.|.	.|.	ENSG00000142657|ENSG00000142657	ENST00000541529;ENST00000270776;ENST00000538557|ENST00000543846	T;T;T|.	0.39406|.	1.1;1.14;1.08|.	5.18|5.18	4.23|4.23	0.50019|0.50019	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55545|0.55545	0.1927|0.1927	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.996;0.999|.	T|T	0.59215|0.59215	-0.7496|-0.7496	10|6	0.59425|0.87932	D|D	0.04|0	-30.9907|-30.9907	10.938|10.938	0.47257|0.47257	0.0:0.7969:0.1307:0.0725|0.0:0.7969:0.1307:0.0725	.|.	42;42|.	F5H7U0;P52209|.	.;6PGD_HUMAN|.	L|Y	42;42;29|20	ENSP00000442285:F42L;ENSP00000270776:F42L;ENSP00000437822:F29L|.	ENSP00000270776:F42L|ENSP00000438783:S20Y	F|S	+|+	3|2	2|0	PGD|PGD	10383078|10383078	1.000000|1.000000	0.71417|0.71417	0.725000|0.725000	0.30721|0.30721	0.987000|0.987000	0.75469|0.75469	2.511000|2.511000	0.45476|0.45476	1.247000|1.247000	0.43917|0.43917	0.655000|0.655000	0.94253|0.94253	TTC|TCT	PGD	-	pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox		0.502	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGD	HGNC	protein_coding	OTTHUMT00000005398.1	C	NM_002631		10460491	+1	no_errors	ENST00000270776	ensembl	human	known	70_37	missense	SNP	1.000	A
PGM5	5239	genome.wustl.edu	37	9	70999424	70999424	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:70999424G>T	ENST00000396396.1	+	3	764	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	PGM5_ENST00000396392.1_Nonsense_Mutation_p.E179*|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	179					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AGGAAGACAAGAATTTGACCT	0.388																																																	0													82.0	78.0	80.0					9																	70999424		2203	4299	6502	SO:0001587	stop_gained	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.535G>T	9.37:g.70999424G>T	ENSP00000379678:p.Glu179*		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Nonsense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.E179*	ENST00000396396.1	37	c.535	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	.	38	6.675257	0.97755	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	.	.	.	4.46	4.46	0.54185	.	0.108214	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	16.2387	0.82394	0.0:0.0:1.0:0.0	.	.	.	.	X	179	.	ENSP00000379674:E179X	E	+	1	0	PGM5	70189244	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.613000	0.74192	2.167000	0.68274	0.573000	0.79308	GAA	PGM5	-	superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.388	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	G	NM_021965		70999424	+1	no_errors	ENST00000396396	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PGR	5241	genome.wustl.edu	37	11	100909965	100909965	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:100909965A>C	ENST00000325455.5	-	8	4137	c.2684T>G	c.(2683-2685)tTt>tGt	p.F895C	PGR_ENST00000263463.5_Missense_Mutation_p.F793C|PGR_ENST00000534013.1_Missense_Mutation_p.F301C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	895	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GGACTGGATAAATGTATTCAA	0.358																																					Pancreas(124;2271 2354 21954 22882)												0													88.0	87.0	87.0					11																	100909965		2203	4299	6502	SO:0001583	missense	5241			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2684T>G	11.37:g.100909965A>C	ENSP00000325120:p.Phe895Cys		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.F895C	ENST00000325455.5	37	c.2684	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137264	0.77775	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	T;T;D	0.99762	1.25;1.25;-6.67	5.74	5.74	0.90152	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	M	0.87971	2.92	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	D	0.97047	0.9761	10	0.87932	D	0	.	16.043	0.80698	1.0:0.0:0.0:0.0	.	793;895;276	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	C	895;301;793	ENSP00000325120:F895C;ENSP00000436561:F301C;ENSP00000263463:F793C	ENSP00000263463:F793C	F	-	2	0	PGR	100415175	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.853000	0.75435	2.187000	0.69744	0.477000	0.44152	TTT	PGR	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd		0.358	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	A			100909965	-1	no_errors	ENST00000325455	ensembl	human	known	70_37	missense	SNP	1.000	C
PHC1	1911	genome.wustl.edu	37	12	9089552	9089552	+	Silent	SNP	C	C	T	rs142710389		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:9089552C>T	ENST00000543824.1	+	13	2801	c.2469C>T	c.(2467-2469)tgC>tgT	p.C823C	PHC1_ENST00000544916.1_Silent_p.C823C|PHC1_ENST00000536844.1_Silent_p.C429C|PHC1_ENST00000433083.2_Silent_p.C778C			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	823					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCATGACTTGCGCTAAGAGGT	0.517																																																	0								C		0,4406		0,0,2203	100.0	80.0	87.0		2469	-9.0	0.4	12	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PHC1	NM_004426.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		823/1005	9089552	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1911			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2469C>T	12.37:g.9089552C>T			D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.C823	ENST00000543824.1	37	c.2469	CCDS8597.1	12																																																																																			PHC1	-	pfam_Znf_MYM,pfscan_Znf_FCS		0.517	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	HGNC	protein_coding	OTTHUMT00000399115.1	C	NM_004426		9089552	+1	no_errors	ENST00000251757	ensembl	human	known	70_37	silent	SNP	0.918	T
JADE3	9767	genome.wustl.edu	37	X	46898451	46898451	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:46898451C>T	ENST00000218343.4	+	8	1254	c.956C>T	c.(955-957)aCg>aTg	p.T319M	PHF16_ENST00000397189.1_Missense_Mutation_p.T319M	NM_014735.3	NP_055550.1												p.T319M(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AAGTTGAAGACGGGGGCTTGT	0.532																																																	1	Substitution - Missense(1)	endometrium(1)											91.0	76.0	81.0					X																	46898451		2203	4300	6503	SO:0001583	missense	9767																														ENST00000218343.4:c.956C>T	X.37:g.46898451C>T	ENSP00000218343:p.Thr319Met			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T319M	ENST00000218343.4	37	c.956	CCDS14271.1	X	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777355	0.70107	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.14144	2.53;2.53	5.49	3.73	0.42828	Zinc finger, PHD-type (1);	0.098312	0.64402	N	0.000001	T	0.13114	0.0318	N	0.17594	0.5	0.58432	D	0.999999	P	0.52577	0.954	P	0.52514	0.701	T	0.10800	-1.0614	10	0.21540	T	0.41	.	11.164	0.48533	0.0:0.847:0.0:0.153	.	319	Q92613	JADE3_HUMAN	M	319	ENSP00000380373:T319M;ENSP00000218343:T319M	ENSP00000218343:T319M	T	+	2	0	PHF16	46783395	0.987000	0.35691	0.956000	0.39512	0.987000	0.75469	2.422000	0.44696	0.507000	0.28148	0.513000	0.50165	ACG	PHF16	-	smart_Znf_PHD		0.532	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	C			46898451	+1	no_errors	ENST00000218343	ensembl	human	known	70_37	missense	SNP	0.998	T
JADE3	9767	genome.wustl.edu	37	X	46918324	46918324	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:46918324C>T	ENST00000218343.4	+	11	2615	c.2317C>T	c.(2317-2319)Ctg>Ttg	p.L773L	PHF16_ENST00000397189.1_Silent_p.L773L	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AGATTTGGAGCTGAGTGATTC	0.493																																																	0													44.0	38.0	40.0					X																	46918324		2203	4300	6503	SO:0001819	synonymous_variant	9767																														ENST00000218343.4:c.2317C>T	X.37:g.46918324C>T				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L773	ENST00000218343.4	37	c.2317	CCDS14271.1	X																																																																																			PHF16	-	NULL		0.493	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	C			46918324	+1	no_errors	ENST00000218343	ensembl	human	known	70_37	silent	SNP	0.983	T
PHF8	23133	genome.wustl.edu	37	X	53966697	53966697	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:53966697G>A	ENST00000357988.5	-	21	3368	c.3010C>T	c.(3010-3012)Cgc>Tgc	p.R1004C	PHF8_ENST00000338946.6_Missense_Mutation_p.R867C|PHF8_ENST00000338154.6_Missense_Mutation_p.R968C	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1004					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						GTGGTGCTGCGGTTTGCCTGG	0.602																																																	0													60.0	48.0	52.0					X																	53966697		2203	4299	6502	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.3010C>T	X.37:g.53966697G>A	ENSP00000350676:p.Arg1004Cys		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.R1004C	ENST00000357988.5	37	c.3010	CCDS55420.1	X	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944201	0.73672	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277	T;T;T	0.25250	2.12;1.86;1.81	5.08	5.08	0.68730	.	0.061144	0.64402	D	0.000005	T	0.43590	0.1254	L	0.39898	1.24	0.46927	D	0.999257	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.985;0.996;0.991	T	0.38972	-0.9636	10	0.72032	D	0.01	-6.9595	16.3345	0.83052	0.0:0.0:1.0:0.0	.	867;903;1004	B7Z911;Q9UPP1-3;Q9UPP1	.;.;PHF8_HUMAN	C	1004;968;867;897	ENSP00000350676:R1004C;ENSP00000338868:R968C;ENSP00000340051:R867C	ENSP00000338868:R968C	R	-	1	0	PHF8	53983422	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	4.619000	0.61218	2.109000	0.64355	0.431000	0.28591	CGC	PHF8	-	NULL		0.602	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	G	NM_015107		53966697	-1	no_errors	ENST00000357988	ensembl	human	known	70_37	missense	SNP	1.000	A
PHKA2	5256	genome.wustl.edu	37	X	18949833	18949833	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:18949833C>A	ENST00000379942.4	-	12	1836	c.1171G>T	c.(1171-1173)Gac>Tac	p.D391Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	391					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGAACTCGGTCTACTGTGTGA	0.498											OREG0019698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													237.0	189.0	205.0					X																	18949833		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1171G>T	X.37:g.18949833C>A	ENSP00000369274:p.Asp391Tyr	729	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.D391Y	ENST00000379942.4	37	c.1171	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	c	22.4	4.280933	0.80692	.	.	ENSG00000044446	ENST00000379942	D	0.91295	-2.82	5.28	5.28	0.74379	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.088152	0.85682	D	0.000000	D	0.95427	0.8515	M	0.85945	2.785	0.80722	D	1	D	0.54601	0.967	P	0.62491	0.903	D	0.95968	0.8967	10	0.72032	D	0.01	-24.7587	18.2663	0.90053	0.0:1.0:0.0:0.0	.	391	P46019	KPB2_HUMAN	Y	391	ENSP00000369274:D391Y	ENSP00000369274:D391Y	D	-	1	0	PHKA2	18859754	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.770000	0.85390	2.338000	0.79540	0.591000	0.81541	GAC	PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.498	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	C	NM_000292		18949833	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	missense	SNP	1.000	A
PHKA1	5255	genome.wustl.edu	37	X	71887265	71887265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:71887265G>T	ENST00000373542.4	-	7	836	c.677C>A	c.(676-678)tCa>tAa	p.S226*	PHKA1_ENST00000339490.3_Nonsense_Mutation_p.S226*|PHKA1_ENST00000373545.3_Nonsense_Mutation_p.S226*|PHKA1_ENST00000541944.1_Nonsense_Mutation_p.S226*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.S226*	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	226					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ATGGATAACTGATTGAGGCCC	0.408																																																	0													115.0	87.0	96.0					X																	71887265		2203	4300	6503	SO:0001587	stop_gained	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.677C>A	X.37:g.71887265G>T	ENSP00000362643:p.Ser226*		B7ZL05|B7ZL07|Q2M3D7	Nonsense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.S226*	ENST00000373542.4	37	c.677	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.380822	0.98248	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	4.02	4.02	0.46733	.	0.124112	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2404	12.7001	0.57026	0.0:0.0:1.0:0.0	.	.	.	.	X	226	.	ENSP00000342469:S226X	S	-	2	0	PHKA1	71803990	1.000000	0.71417	0.987000	0.45799	0.307000	0.27823	9.083000	0.94067	1.840000	0.53500	0.594000	0.82650	TCA	PHKA1	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.408	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	G			71887265	-1	no_errors	ENST00000373539	ensembl	human	known	70_37	nonsense	SNP	0.995	T
PHLDB2	90102	genome.wustl.edu	37	3	111603090	111603090	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:111603090T>G	ENST00000431670.2	+	2	577	c.166T>G	c.(166-168)Tct>Gct	p.S56A	PHLDB2_ENST00000478922.1_Missense_Mutation_p.S56A|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S56A|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S56A|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S83A|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S56A|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S56A	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	56						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGGAGACTATTCTGGCTCCTA	0.473																																																	0													137.0	140.0	139.0					3																	111603090		2203	4300	6503	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.166T>G	3.37:g.111603090T>G	ENSP00000405405:p.Ser56Ala		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S56A	ENST00000431670.2	37	c.166	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	T	14.43	2.531977	0.45073	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.36157	1.27;1.35;1.29;1.29;1.35;1.29	5.87	5.87	0.94306	.	0.198473	0.45361	D	0.000375	T	0.46405	0.1391	L	0.27053	0.805	0.29611	N	0.846941	B;D;B;B;B	0.67145	0.022;0.996;0.208;0.004;0.004	B;D;B;B;B	0.77557	0.011;0.99;0.084;0.006;0.013	T	0.44360	-0.9333	10	0.41790	T	0.15	.	14.0962	0.65023	0.0:0.0:0.0:1.0	.	56;56;56;56;83	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	A	83;83;56;56;56;56;56;56;56	ENSP00000377500:S83A;ENSP00000405405:S56A;ENSP00000405292:S56A;ENSP00000418296:S56A;ENSP00000377502:S56A;ENSP00000418319:S56A	ENSP00000352764:S83A	S	+	1	0	PHLDB2	113085780	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.879000	0.39618	2.371000	0.80710	0.533000	0.62120	TCT	PHLDB2	-	NULL		0.473	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	T	NM_145753		111603090	+1	no_errors	ENST00000393925	ensembl	human	known	70_37	missense	SNP	1.000	G
PHLDB2	90102	genome.wustl.edu	37	3	111681103	111681103	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:111681103T>C	ENST00000431670.2	+	13	3432	c.3021T>C	c.(3019-3021)gaT>gaC	p.D1007D	PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000393925.3_Silent_p.D1007D|PHLDB2_ENST00000481953.1_Silent_p.D964D|PHLDB2_ENST00000412622.1_Silent_p.D964D|PHLDB2_ENST00000393923.3_Silent_p.D991D|PHLDB2_ENST00000495180.1_Silent_p.D498D	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1007						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGAGCCTCGATAGCTCTGATA	0.428																																																	0													121.0	116.0	118.0					3																	111681103		2203	4300	6503	SO:0001819	synonymous_variant	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3021T>C	3.37:g.111681103T>C			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D1007	ENST00000431670.2	37	c.3021	CCDS46886.1	3																																																																																			PHLDB2	-	NULL		0.428	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	T	NM_145753		111681103	+1	no_errors	ENST00000393925	ensembl	human	known	70_37	silent	SNP	0.994	C
PHLPP2	23035	genome.wustl.edu	37	16	71736609	71736609	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:71736609G>T	ENST00000568954.1	-	3	688	c.310C>A	c.(310-312)Ctt>Att	p.L104I	PHLPP2_ENST00000393524.2_Missense_Mutation_p.L104I|PHLPP2_ENST00000360429.3_Missense_Mutation_p.L104I|PHLPP2_ENST00000567016.1_Missense_Mutation_p.L139I|PHLPP2_ENST00000356272.3_Missense_Mutation_p.L104I			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	104					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACGATCTGAAGAGGTCGTTCA	0.353																																																	0													77.0	68.0	71.0					16																	71736609		2198	4300	6498	SO:0001583	missense	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.310C>A	16.37:g.71736609G>T	ENSP00000457991:p.Leu104Ile		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like	p.L104I	ENST00000568954.1	37	c.310	CCDS32479.1	16	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525305	0.85600	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.34667	1.35;1.35;1.35	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.71036	2.16	0.46901	D	0.999244	D;D	0.76494	0.999;0.997	D;D	0.85130	0.997;0.991	T	0.56786	-0.7921	10	0.51188	T	0.08	-13.7155	11.6957	0.51542	0.0815:0.0:0.9185:0.0	.	104;104	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	I	104	ENSP00000353610:L104I;ENSP00000348611:L104I;ENSP00000377159:L104I	ENSP00000348611:L104I	L	-	1	0	PHLPP2	70294110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.852000	0.69488	2.719000	0.93026	0.555000	0.69702	CTT	PHLPP2	-	NULL		0.353	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	G	NM_015020		71736609	-1	no_errors	ENST00000356272	ensembl	human	known	70_37	missense	SNP	1.000	T
HOGA1	112817	genome.wustl.edu	37	10	99361706	99361706	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:99361706G>T	ENST00000370646.4	+	6	1154	c.793G>T	c.(793-795)Gcc>Tcc	p.A265S	HOGA1_ENST00000370647.4_Missense_Mutation_p.A102S|PI4K2A_ENST00000555577.1_Missense_Mutation_p.A102S|PI4K2A_ENST00000370649.3_Missense_Mutation_p.A102S	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	265					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						ATGGGAAGATGCCCAGAAACT	0.677																																																	0													29.0	27.0	28.0					10																	99361706		2202	4300	6502	SO:0001583	missense	55361			BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.793G>T	10.37:g.99361706G>T	ENSP00000359680:p.Ala265Ser		A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom	p.A102S	ENST00000370646.4	37	c.304	CCDS7467.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.300391|5.300391	0.95601|0.95601	.|.	.|.	ENSG00000241935;ENSG00000241935;ENSG00000155252;ENSG00000249967|ENSG00000241935	ENST00000370647;ENST00000370646;ENST00000555577;ENST00000370649|ENST00000370642	D;D;D;D|.	0.97089|.	-4.24;-4.24;-2.58;-2.58|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Aldolase-type TIM barrel (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86062|0.86062	0.5843|0.5843	M|M	0.91354|0.91354	3.2|3.2	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.992;1.0;0.999|.	D;D;D|.	0.91635|.	0.989;0.999;0.999|.	D|D	0.88768|0.88768	0.3262|0.3262	10|5	0.51188|.	T|.	0.08|.	-23.5218|-23.5218	19.1105|19.1105	0.93314|0.93314	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	102;102;265|.	E9PAM4;Q86XE5-3;Q86XE5|.	.;.;HOGA1_HUMAN|.	S|F	102;265;102;102|68	ENSP00000359681:A102S;ENSP00000359680:A265S;ENSP00000452243:A102S;ENSP00000359683:A102S|.	ENSP00000359680:A265S|.	A|C	+|+	1|2	0|0	PI4K2A;HOGA1;RP11-548K23.11|HOGA1	99351696|99351696	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.849000|0.849000	0.48306|0.48306	9.347000|9.347000	0.97059|0.97059	2.530000|2.530000	0.85305|0.85305	0.561000|0.561000	0.74099|0.74099	GCC|TGC	PI4K2A	-	NULL		0.677	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2A	HGNC	protein_coding	OTTHUMT00000049726.1	G	NM_138413		99361706	+1	no_errors	ENST00000555577	ensembl	human	known	70_37	missense	SNP	1.000	T
PI4KA	5297	genome.wustl.edu	37	22	21088097	21088097	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:21088097C>T	ENST00000572273.1	-	35	4143	c.3913G>A	c.(3913-3915)Gat>Aat	p.D1305N	PI4KA_ENST00000255882.6_Missense_Mutation_p.D1363N|PI4KA_ENST00000414196.3_Missense_Mutation_p.D115N			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1305					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGAACCACATCGGCATGCAGG	0.587																																					GBM(136;1332 1831 3115 23601 50806)												0													65.0	61.0	62.0					22																	21088097		2203	4297	6500	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3913G>A	22.37:g.21088097C>T	ENSP00000458238:p.Asp1305Asn		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.D1363N	ENST00000572273.1	37	c.4087		22	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746718	0.89663	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.77750	-1.12	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.77565	0.4149	L	0.56769	1.78	0.80722	D	1	P	0.45531	0.86	P	0.44732	0.459	T	0.75019	-0.3465	10	0.20046	T	0.44	-26.0282	18.369	0.90400	0.0:1.0:0.0:0.0	.	1305	P42356	PI4KA_HUMAN	N	1305;115	ENSP00000402981:D115N	ENSP00000255882:D1305N	D	-	1	0	PI4KA	19418097	1.000000	0.71417	0.707000	0.30419	0.886000	0.51366	7.748000	0.85085	2.340000	0.79590	0.460000	0.39030	GAT	PI4KA	-	NULL		0.587	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		C	NM_058004		21088097	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	missense	SNP	1.000	T
PIFO	128344	genome.wustl.edu	37	1	111893946	111893946	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:111893946T>G	ENST00000369738.4	+	6	938	c.573T>G	c.(571-573)aaT>aaG	p.N191K	PIFO_ENST00000369737.4_Missense_Mutation_p.N158K|PIFO_ENST00000484512.1_3'UTR	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	191					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										TGTATTATAATTGAGCGGCTG	0.453																																																	0													117.0	103.0	108.0					1																	111893946		2203	4300	6503	SO:0001583	missense	128344			BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.573T>G	1.37:g.111893946T>G	ENSP00000358753:p.Asn191Lys		D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	NULL	p.N191K	ENST00000369738.4	37	c.573	CCDS833.1	1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700799	0.48307	.	.	ENSG00000173947	ENST00000369738;ENST00000369737	T;T	0.32753	1.86;1.44	5.82	-11.6	0.00059	.	0.890849	0.09741	N	0.761856	T	0.05456	0.0144	L	0.31294	0.92	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.14578	0.011;0.011	T	0.34502	-0.9826	10	0.62326	D	0.03	.	9.3018	0.37851	0.0858:0.152:0.0848:0.6774	.	158;191	Q8TCI5-3;Q8TCI5	.;PIFO_HUMAN	K	191;158	ENSP00000358753:N191K;ENSP00000358752:N158K	ENSP00000358752:N158K	N	+	3	2	C1orf88	111695469	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	-1.275000	0.02817	-3.657000	0.00125	-0.468000	0.05107	AAT	PIFO	-	NULL		0.453	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIFO	HGNC	protein_coding	OTTHUMT00000030718.1	T	NM_181643		111893946	+1	no_errors	ENST00000369738	ensembl	human	known	70_37	missense	SNP	0.000	G
PIGA	5277	genome.wustl.edu	37	X	15349650	15349650	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:15349650C>T	ENST00000333590.4	-	2	487	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	135					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GCATCATGGGCCATAGCAGAA	0.473																																																	0													100.0	82.0	88.0					X																	15349650		2203	4300	6503	SO:0001583	missense	5277			BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.403G>A	X.37:g.15349650C>T	ENSP00000369820:p.Ala135Thr		B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1	p.A135T	ENST00000333590.4	37	c.403	CCDS14165.1	X	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873782	0.72180	.	.	ENSG00000165195	ENST00000333590	T	0.77358	-1.09	5.68	5.68	0.88126	PIGA, GPI anchor biosynthesis (1);	0.045991	0.85682	D	0.000000	T	0.76212	0.3956	L	0.39514	1.22	0.80722	D	1	B	0.29671	0.254	B	0.37731	0.257	T	0.74688	-0.3581	10	0.49607	T	0.09	-7.6149	17.6503	0.88162	0.0:1.0:0.0:0.0	.	135	P37287	PIGA_HUMAN	T	135	ENSP00000369820:A135T	ENSP00000369820:A135T	A	-	1	0	PIGA	15259571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.385000	0.81259	0.544000	0.68410	GCC	PIGA	-	pfam_PIGA_GPI_anchor_biosynthesis		0.473	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGA	HGNC	protein_coding	OTTHUMT00000055854.1	C	NM_002641		15349650	-1	no_errors	ENST00000333590	ensembl	human	known	70_37	missense	SNP	1.000	T
PIGM	93183	genome.wustl.edu	37	1	160000262	160000262	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:160000262T>C	ENST00000368090.2	-	1	1521	c.1268A>G	c.(1267-1269)gAc>gGc	p.D423G		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	423					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATACACTAGTCATATTTGAT	0.378																																																	0													121.0	134.0	129.0					1																	160000262		2203	4300	6503	SO:0001583	missense	93183			AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.1268A>G	1.37:g.160000262T>C	ENSP00000357069:p.Asp423Gly			Missense_Mutation	SNP	pfam_Mannosyltransferase_DXD	p.D423G	ENST00000368090.2	37	c.1268	CCDS1192.1	1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.727634	0.30593	.	.	ENSG00000143315	ENST00000368090	T	0.45276	0.9	4.45	4.45	0.53987	.	0.439592	0.24018	N	0.042305	T	0.09730	0.0239	N	0.08118	0	0.24656	N	0.993495	P	0.43477	0.808	B	0.39706	0.307	T	0.05084	-1.0907	9	.	.	.	-16.4787	10.0577	0.42255	0.0:0.0:0.0:1.0	.	423	Q9H3S5	PIGM_HUMAN	G	423	ENSP00000357069:D423G	.	D	-	2	0	PIGM	158266886	0.763000	0.28462	0.970000	0.41538	0.398000	0.30690	1.552000	0.36244	1.847000	0.53656	0.379000	0.24179	GAC	PIGM	-	NULL		0.378	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGM	HGNC	protein_coding	OTTHUMT00000060643.2	T	NM_145167		160000262	-1	no_errors	ENST00000368090	ensembl	human	known	70_37	missense	SNP	0.649	C
PIGO	84720	genome.wustl.edu	37	9	35089413	35089413	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:35089413C>T	ENST00000378617.3	-	10	3498	c.3104G>A	c.(3103-3105)cGc>cAc	p.R1035H	PIGO_ENST00000341666.3_Missense_Mutation_p.R1035H|PIGO_ENST00000298004.5_Missense_Mutation_p.R618H|PIGO_ENST00000361778.2_Missense_Mutation_p.R618H	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	1035					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAGATGCCTGCGAAGGATGGA	0.522																																																	0													76.0	74.0	75.0					9																	35089413		2203	4300	6503	SO:0001583	missense	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.3104G>A	9.37:g.35089413C>T	ENSP00000367880:p.Arg1035His		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R1035H	ENST00000378617.3	37	c.3104	CCDS6575.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.410698	0.96072	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.69	5.69	0.88448	.	0.099223	0.56097	D	0.000031	D	0.84220	0.5424	M	0.91038	3.17	0.35386	D	0.790371	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88567	0.3127	10	0.48119	T	0.1	-12.7378	19.8101	0.96543	0.0:1.0:0.0:0.0	.	618;1035	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	H	618;1035;1035;618	ENSP00000298004:R618H;ENSP00000367880:R1035H;ENSP00000339382:R1035H;ENSP00000354678:R618H	ENSP00000298004:R618H	R	-	2	0	PIGO	35079413	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.524000	0.81866	2.696000	0.92011	0.655000	0.94253	CGC	PIGO	-	NULL		0.522	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	C	NM_032634		35089413	-1	no_errors	ENST00000341666	ensembl	human	known	70_37	missense	SNP	1.000	T
PIH1D2	120379	genome.wustl.edu	37	11	111943771	111943771	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:111943771T>G	ENST00000280350.4	-	2	350	c.128A>C	c.(127-129)cAg>cCg	p.Q43P	PIH1D2_ENST00000528775.1_Missense_Mutation_p.Q43P|PIH1D2_ENST00000431456.1_Missense_Mutation_p.Q43P|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000530641.1_Missense_Mutation_p.Q43P|PIH1D2_ENST00000532211.1_Missense_Mutation_p.Q43P|C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000280352.9_5'Flank|C11orf57_ENST00000393047.3_5'Flank|PIH1D2_ENST00000521853.2_5'UTR|C11orf57_ENST00000530104.1_5'Flank	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	43										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		AGCACAGAGCTGTTTCCCTTC	0.493																																																	0													99.0	90.0	93.0					11																	111943771		2201	4297	6498	SO:0001583	missense	120379			BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.128A>C	11.37:g.111943771T>G	ENSP00000280350:p.Gln43Pro		B4DU48|E9PD82	Missense_Mutation	SNP	pfam_PIH	p.Q43P	ENST00000280350.4	37	c.128	CCDS8355.1	11	.	.	.	.	.	.	.	.	.	.	T	13.38	2.219290	0.39201	.	.	ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744	T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27	4.97	2.64	0.31445	.	0.921262	0.09448	N	0.800851	T	0.30978	0.0782	M	0.69823	2.125	0.09310	N	1	P;P;P	0.48764	0.714;0.822;0.915	P;P;P	0.54965	0.48;0.48;0.765	T	0.10965	-1.0607	10	0.32370	T	0.25	0.0401	7.3667	0.26776	0.0:0.2498:0.0:0.7502	.	43;43;43	B4DU48;E9PD82;Q8WWB5	.;.;PIHD2_HUMAN	P	43;43;43;43;43;8	ENSP00000434275:Q43P;ENSP00000388209:Q43P;ENSP00000431841:Q43P;ENSP00000280350:Q43P;ENSP00000431147:Q43P;ENSP00000433297:Q8P	ENSP00000280350:Q43P	Q	-	2	0	PIH1D2	111448981	0.203000	0.23435	0.490000	0.27465	0.523000	0.34469	2.342000	0.43992	0.993000	0.38866	0.533000	0.62120	CAG	PIH1D2	-	pfam_PIH		0.493	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D2	HGNC	protein_coding	OTTHUMT00000391916.1	T	NM_138789		111943771	-1	no_errors	ENST00000280350	ensembl	human	known	70_37	missense	SNP	0.071	G
PIH1D3	139212	genome.wustl.edu	37	X	106486435	106486435	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:106486435T>C	ENST00000372453.3	+	7	614	c.552T>C	c.(550-552)tgT>tgC	p.C184C	PIH1D3_ENST00000535523.1_Silent_p.C184C|PIH1D3_ENST00000336387.4_Silent_p.C184C	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	184																	TGGTGGAATGTACCAGTGCCA	0.343																																																	0													120.0	117.0	118.0					X																	106486435		2203	4299	6502	SO:0001819	synonymous_variant	139212			AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"""sarcoma antigen NY-SAR-97"""		"""chromosome X open reading frame 41"""	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.552T>C	X.37:g.106486435T>C			D3DUX5|Q86WE1	Silent	SNP	pfam_PIH	p.C184	ENST00000372453.3	37	c.552	CCDS14528.1	X																																																																																			PIH1D3	-	pfam_PIH		0.343	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D3	HGNC	protein_coding	OTTHUMT00000057832.1	T	NM_173494		106486435	+1	no_errors	ENST00000336387	ensembl	human	known	70_37	silent	SNP	0.000	C
PIK3C2G	5288	genome.wustl.edu	37	12	18435082	18435082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:18435082G>T	ENST00000266497.5	+	1	105	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.E23*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.E23*|PIK3C2G_ENST00000433979.1_Nonsense_Mutation_p.E23*			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	23					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.E23*(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGAACACCAAGAATTTCTCTT	0.388																																																	2	Substitution - Nonsense(2)	large_intestine(2)											63.0	59.0	60.0					12																	18435082		1856	4097	5953	SO:0001587	stop_gained	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.67G>T	12.37:g.18435082G>T	ENSP00000266497:p.Glu23*		A1L3U0	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.E23*	ENST00000266497.5	37	c.67	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728127	0.69074	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	.	.	.	4.37	2.34	0.29019	.	0.855669	0.10069	N	0.719903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-3.0495	11.1691	0.48560	0.0:0.4828:0.5172:0.0	.	.	.	.	X	23	.	ENSP00000266497:E23X	E	+	1	0	PIK3C2G	18326349	0.027000	0.19231	0.014000	0.15608	0.447000	0.32167	1.490000	0.35573	0.630000	0.30394	0.655000	0.94253	GAA	PIK3C2G	-	NULL		0.388	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	G	NM_004570		18435082	+1	no_errors	ENST00000538779	ensembl	human	known	70_37	nonsense	SNP	0.021	T
PIK3C2G	5288	genome.wustl.edu	37	12	18576946	18576946	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:18576946G>A	ENST00000266497.5	+	16	2392	c.2354G>A	c.(2353-2355)aGc>aAc	p.S785N	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S826N|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.S785N			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	785	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCCTTGCAGAGCATCCAGGTT	0.443																																																	0													71.0	67.0	69.0					12																	18576946		1883	4123	6006	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2354G>A	12.37:g.18576946G>A	ENSP00000266497:p.Ser785Asn		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S826N	ENST00000266497.5	37	c.2477	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085999	0.36758	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.57907	0.37;0.37;0.37	4.52	4.52	0.55395	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.055227	0.64402	D	0.000001	T	0.34513	0.0900	N	0.05608	-0.01	0.48185	D	0.999601	P;P;P	0.43701	0.815;0.778;0.815	B;B;B	0.42916	0.402;0.28;0.38	T	0.10520	-1.0626	10	0.17369	T	0.5	-16.1954	15.5695	0.76323	0.0:0.0:1.0:0.0	.	825;826;785	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	N	785;785;826	ENSP00000404845:S785N;ENSP00000266497:S785N;ENSP00000445381:S826N	ENSP00000266497:S785N	S	+	2	0	PIK3C2G	18468213	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	4.860000	0.62961	2.805000	0.96524	0.460000	0.39030	AGC	PIK3C2G	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.443	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	G	NM_004570		18576946	+1	no_errors	ENST00000538779	ensembl	human	known	70_37	missense	SNP	0.999	A
PIK3CA	5290	genome.wustl.edu	37	3	178921533	178921533	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:178921533C>A	ENST00000263967.3	+	5	1172	c.1015C>A	c.(1015-1017)Ctt>Att	p.L339I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	339	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.L339F(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATAAAAATTCTTTGTGCAAC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Substitution - Missense(1)	oesophagus(1)											75.0	75.0	75.0					3																	178921533		1821	4073	5894	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1015C>A	3.37:g.178921533C>A	ENSP00000263967:p.Leu339Ile		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L339I	ENST00000263967.3	37	c.1015	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708153	0.48412	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.38	5.38	0.77491	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.59729	0.2215	L	0.41632	1.29	0.80722	D	1	P	0.36027	0.533	B	0.27076	0.076	T	0.58482	-0.7629	10	0.13853	T	0.58	-12.9603	19.4856	0.95027	0.0:1.0:0.0:0.0	.	339	P42336	PK3CA_HUMAN	I	339	ENSP00000263967:L339I	ENSP00000263967:L339I	L	+	1	0	PIK3CA	180404227	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.688000	0.68227	2.666000	0.90696	0.467000	0.42956	CTT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	C			178921533	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIKFYVE	200576	genome.wustl.edu	37	2	209138439	209138439	+	Silent	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:209138439C>A	ENST00000264380.4	+	3	462	c.304C>A	c.(304-306)Cgg>Agg	p.R102R	PIKFYVE_ENST00000392202.3_Silent_p.R102R|PIKFYVE_ENST00000407449.1_Silent_p.R102R|PIKFYVE_ENST00000308862.6_Silent_p.R102R	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	102					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGAACTCCAGCGGCGCTCTTC	0.448																																																	0													113.0	107.0	109.0					2																	209138439		2203	4300	6503	SO:0001819	synonymous_variant	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.304C>A	2.37:g.209138439C>A			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.R102	ENST00000264380.4	37	c.304	CCDS2382.1	2																																																																																			PIKFYVE	-	NULL		0.448	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	C	NM_015040		209138439	+1	no_errors	ENST00000264380	ensembl	human	known	70_37	silent	SNP	0.993	A
PIWIL3	440822	genome.wustl.edu	37	22	25123947	25123947	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:25123947A>C	ENST00000332271.5	-	16	2422	c.2006T>G	c.(2005-2007)tTt>tGt	p.F669C	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.F551C|PIWIL3_ENST00000527701.1_Missense_Mutation_p.F551C	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	669	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACTTGCAACAAATCCTGCTAT	0.348																																																	0													136.0	121.0	126.0					22																	25123947		2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2006T>G	22.37:g.25123947A>C	ENSP00000330031:p.Phe669Cys			Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.F669C	ENST00000332271.5	37	c.2006	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893195	0.33442	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.33216	1.42;1.42;1.42	2.8	2.8	0.32819	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.228519	0.38605	U	0.001629	T	0.53158	0.1779	M	0.83692	2.655	0.41875	D	0.990299	D;P;D	0.89917	1.0;0.577;0.961	D;P;P	0.80764	0.994;0.665;0.856	T	0.56384	-0.7988	10	0.51188	T	0.08	.	9.0654	0.36460	1.0:0.0:0.0:0.0	.	551;660;669	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	C	669;551;551	ENSP00000330031:F669C;ENSP00000431843:F551C;ENSP00000435718:F551C	ENSP00000330031:F669C	F	-	2	0	PIWIL3	23453947	1.000000	0.71417	0.931000	0.37212	0.038000	0.13279	5.887000	0.69751	1.311000	0.45024	0.459000	0.35465	TTT	PIWIL3	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.348	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	A	NM_001008496		25123947	-1	no_errors	ENST00000332271	ensembl	human	known	70_37	missense	SNP	1.000	C
PKDREJ	10343	genome.wustl.edu	37	22	46655437	46655437	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:46655437G>A	ENST00000253255.5	-	1	3782	c.3783C>T	c.(3781-3783)agC>agT	p.S1261S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1261	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AATGCACGTCGCTGGTACTCA	0.453																																																	0													105.0	106.0	105.0					22																	46655437		2203	4300	6503	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3783C>T	22.37:g.46655437G>A			B1AJY3|O95850	Silent	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like	p.S1261	ENST00000253255.5	37	c.3783	CCDS14073.1	22																																																																																			PKDREJ	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2		0.453	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	G	NM_006071		46655437	-1	no_errors	ENST00000253255	ensembl	human	known	70_37	silent	SNP	0.022	A
PKHD1L1	93035	genome.wustl.edu	37	8	110498980	110498980	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:110498980T>C	ENST00000378402.5	+	59	9914	c.9810T>C	c.(9808-9810)ggT>ggC	p.G3270G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3270					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTACCCCGGTTGGTCTGAGG	0.408										HNSCC(38;0.096)																																							0													231.0	228.0	229.0					8																	110498980		1942	4128	6070	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9810T>C	8.37:g.110498980T>C			Q567P2|Q9UF27	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.G3270	ENST00000378402.5	37	c.9810	CCDS47911.1	8																																																																																			PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	T	NM_177531		110498980	+1	no_errors	ENST00000378402	ensembl	human	known	70_37	silent	SNP	0.968	C
PLA2G16	11145	genome.wustl.edu	37	11	63342417	63342417	+	Nonstop_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:63342417T>G	ENST00000323646.5	-	4	843	c.489A>C	c.(487-489)taA>taC	p.*163Y	PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_Nonstop_Mutation_p.*163Y	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	0					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TCTTTTTCAGTTATTGCTTTT	0.433																																																	0													98.0	95.0	96.0					11																	63342417		2201	4298	6499	SO:0001578	stop_lost	11145			X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"""adipose-specific PLA2"""	613867	"""HRAS-like suppressor 3"""	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.489A>C	11.37:g.63342417T>G			B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Nonstop_Mutation	SNP	pfam_LRAT-like_dom	p.*163Y	ENST00000323646.5	37	c.489	CCDS8047.1	11	.	.	.	.	.	.	.	.	.	.	T	6.827	0.521726	0.13005	.	.	ENSG00000176485	ENST00000323646;ENST00000415826	.	.	.	5.23	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7913	0.34852	0.1682:0.0:0.0:0.8318	.	.	.	.	Y	163	.	.	X	-	3	2	PLA2G16	63098993	0.654000	0.27367	0.148000	0.22405	0.018000	0.09664	1.667000	0.37471	1.057000	0.40506	-0.341000	0.08007	TAA	PLA2G16	-	NULL		0.433	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G16	HGNC	protein_coding	OTTHUMT00000396632.1	T	NM_001128203		63342417	-1	no_errors	ENST00000323646	ensembl	human	known	70_37	nonstop	SNP	0.503	G
PLA2G4A	5321	genome.wustl.edu	37	1	186880397	186880397	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:186880397G>A	ENST00000367466.3	+	7	586	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	PLA2G4A_ENST00000442353.2_Intron|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	145	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|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)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	CCAGACCTACGATTTAGTATG	0.453																																																	0													164.0	169.0	168.0					1																	186880397		2203	4300	6503	SO:0001583	missense	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.434G>A	1.37:g.186880397G>A	ENSP00000356436:p.Arg145Gln		B1AKG4|Q29R80	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.R145Q	ENST00000367466.3	37	c.434	CCDS1372.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744349	0.89663	.	.	ENSG00000116711	ENST00000367466	T	0.13538	2.58	5.24	5.24	0.73138	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.53464	-0.8435	10	0.72032	D	0.01	-10.1102	16.3228	0.82958	0.0:0.0:1.0:0.0	.	145	P47712	PA24A_HUMAN	Q	145	ENSP00000356436:R145Q	ENSP00000356436:R145Q	R	+	2	0	PLA2G4A	185147020	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	3.941000	0.56607	2.437000	0.82529	0.650000	0.86243	CGA	PLA2G4A	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.453	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	G	NM_024420		186880397	+1	no_errors	ENST00000367466	ensembl	human	known	70_37	missense	SNP	0.976	A
PLA2G4A	5321	genome.wustl.edu	37	1	186915853	186915853	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:186915853T>G	ENST00000367466.3	+	11	1270	c.1118T>G	c.(1117-1119)tTt>tGt	p.F373C	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F313C	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	373	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|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)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AGCAAATTTTTTATGGGAACA	0.318																																																	0													80.0	80.0	80.0					1																	186915853		2203	4299	6502	SO:0001583	missense	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1118T>G	1.37:g.186915853T>G	ENSP00000356436:p.Phe373Cys		B1AKG4|Q29R80	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.F373C	ENST00000367466.3	37	c.1118	CCDS1372.1	1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296421	0.81025	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.05139	3.49;3.49	5.91	5.91	0.95273	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.04307	-1.0961	10	0.87932	D	0	-20.2417	15.5295	0.75942	0.0:0.0:0.0:1.0	.	313;373	E7EU42;P47712	.;PA24A_HUMAN	C	373;313	ENSP00000356436:F373C;ENSP00000406892:F313C	ENSP00000356436:F373C	F	+	2	0	PLA2G4A	185182476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.963000	0.63694	2.254000	0.74563	0.533000	0.62120	TTT	PLA2G4A	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.318	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	T	NM_024420		186915853	+1	no_errors	ENST00000367466	ensembl	human	known	70_37	missense	SNP	1.000	G
PLA2G7	7941	genome.wustl.edu	37	6	46675822	46675822	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:46675822A>C	ENST00000274793.7	-	10	1142	c.946T>G	c.(946-948)Ttt>Gtt	p.F316V	PLA2G7_ENST00000537365.1_Missense_Mutation_p.F316V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	316					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GAGTTGATAAAAAAGAGGGGC	0.348																																																	0													90.0	89.0	90.0					6																	46675822		2203	4300	6503	SO:0001583	missense	7941			U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.946T>G	6.37:g.46675822A>C	ENSP00000274793:p.Phe316Val		A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF	p.F316V	ENST00000274793.7	37	c.946	CCDS4917.1	6	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745595	0.89663	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.57273	0.41;0.41	5.72	5.72	0.89469	.	0.049185	0.85682	D	0.000000	T	0.57125	0.2032	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53683	-0.8404	10	0.18710	T	0.47	.	15.6732	0.77295	1.0:0.0:0.0:0.0	.	316	Q13093	PAFA_HUMAN	V	316	ENSP00000274793:F316V;ENSP00000445666:F316V	ENSP00000274793:F316V	F	-	1	0	PLA2G7	46783781	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.963000	0.76055	2.187000	0.69744	0.482000	0.46254	TTT	PLA2G7	-	pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF		0.348	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G7	HGNC	protein_coding	OTTHUMT00000040802.1	A			46675822	-1	no_errors	ENST00000274793	ensembl	human	known	70_37	missense	SNP	1.000	C
PLAGL1	5325	genome.wustl.edu	37	6	144269240	144269240	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:144269240T>C	ENST00000360537.2	-	4	1947	c.34A>G	c.(34-36)Acg>Gcg	p.T12A	PLAGL1_ENST00000354765.2_Missense_Mutation_p.T12A|PLAGL1_ENST00000367572.1_Intron|PLAGL1_ENST00000444202.1_Missense_Mutation_p.T12A|PLAGL1_ENST00000416623.1_Missense_Mutation_p.T12A|PLAGL1_ENST00000392307.1_Intron|PLAGL1_ENST00000367571.1_Missense_Mutation_p.T12A|PLAGL1_ENST00000429150.1_Missense_Mutation_p.T12A|PLAGL1_ENST00000437412.1_Intron|PLAGL1_ENST00000392309.1_Missense_Mutation_p.T12A			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	12					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GTGAGGAACGTCTTGCCACAT	0.512																																																	0													105.0	82.0	90.0					6																	144269240		2203	4300	6503	SO:0001583	missense	5325			U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.34A>G	6.37:g.144269240T>C	ENSP00000353734:p.Thr12Ala		B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T12A	ENST00000360537.2	37	c.34	CCDS5202.1	6	.	.	.	.	.	.	.	.	.	.	T	2.331	-0.353279	0.05173	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000367571	T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5	6.02	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.739114	0.12562	N	0.458040	T	0.01156	0.0038	N	0.05574	-0.02	0.27556	N	0.950357	B	0.09022	0.002	B	0.08055	0.003	T	0.48317	-0.9046	10	0.02654	T	1	-5.9422	4.1766	0.10355	0.1427:0.2328:0.0:0.6244	.	12	Q9UM63	PLAL1_HUMAN	A	12	ENSP00000353734:T12A;ENSP00000346810:T12A;ENSP00000400929:T12A;ENSP00000398409:T12A;ENSP00000376125:T12A;ENSP00000400060:T12A;ENSP00000356543:T12A	ENSP00000346810:T12A	T	-	1	0	PLAGL1	144310933	0.025000	0.19082	0.646000	0.29493	0.910000	0.53928	0.383000	0.20651	0.133000	0.18654	0.533000	0.62120	ACG	PLAGL1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.512	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAGL1	HGNC	protein_coding	OTTHUMT00000042541.1	T			144269240	-1	no_errors	ENST00000354765	ensembl	human	known	70_37	missense	SNP	0.135	C
PLCB1	23236	genome.wustl.edu	37	20	8713980	8713980	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:8713980T>G	ENST00000338037.6	+	19	2011	c.1984T>G	c.(1984-1986)Ttt>Gtt	p.F662V	PLCB1_ENST00000378641.3_Missense_Mutation_p.F662V|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.F662V	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	662					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGACAAGCATTTTGATCCATT	0.423																																																	0													154.0	134.0	140.0					20																	8713980		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1984T>G	20.37:g.8713980T>G	ENSP00000338185:p.Phe662Val		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	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,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.F662V	ENST00000338037.6	37	c.1984	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730186	0.89390	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061	T;T;T	0.25414	1.81;1.8;1.81	5.13	5.13	0.70059	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	H	0.94620	3.56	0.58432	D	0.999998	B;D	0.89917	0.332;1.0	B;D	0.97110	0.267;1.0	T	0.75039	-0.3458	10	0.87932	D	0	.	15.227	0.73359	0.0:0.0:0.0:1.0	.	662;662	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	V	662;662;662;582;582;8	ENSP00000367908:F662V;ENSP00000338185:F662V;ENSP00000367904:F662V	ENSP00000338185:F662V	F	+	1	0	PLCB1	8661980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.975000	0.88055	2.047000	0.60756	0.491000	0.48974	TTT	PLCB1	-	pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl		0.423	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	T			8713980	+1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	G
PLCB4	5332	genome.wustl.edu	37	20	9438100	9438100	+	Silent	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:9438100C>A	ENST00000378493.1	+	30	3015	c.3000C>A	c.(2998-3000)atC>atA	p.I1000I	PLCB4_ENST00000378501.2_Silent_p.I1000I|PLCB4_ENST00000378473.3_Silent_p.I1012I|PLCB4_ENST00000414679.2_Silent_p.I1012I|PLCB4_ENST00000334005.3_Silent_p.I1000I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.I1000I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1000					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAACAGAAATCAAAATTCAGA	0.358																																																	0													67.0	68.0	67.0					20																	9438100		2203	4300	6503	SO:0001819	synonymous_variant	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3000C>A	20.37:g.9438100C>A			B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,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.I1000	ENST00000378493.1	37	c.3000	CCDS13105.1	20																																																																																			PLCB4	-	pirsf_PLC-beta		0.358	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	C			9438100	+1	no_errors	ENST00000334005	ensembl	human	known	70_37	silent	SNP	1.000	A
PLCE1	51196	genome.wustl.edu	37	10	96006107	96006107	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:96006107A>G	ENST00000371380.3	+	7	3060	c.2825A>G	c.(2824-2826)aAg>aGg	p.K942R	PLCE1_ENST00000371375.1_Missense_Mutation_p.K634R|PLCE1_ENST00000371385.3_Missense_Mutation_p.K634R|PLCE1_ENST00000260766.3_Missense_Mutation_p.K942R			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	942					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTGCAGTGAAGGCTGTATAC	0.473																																																	0													119.0	122.0	121.0					10																	96006107		1947	4142	6089	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2825A>G	10.37:g.96006107A>G	ENSP00000360431:p.Lys942Arg		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.K942R	ENST00000371380.3	37	c.2825	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677371	0.88445	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	M	0.66939	2.045	0.48696	D	0.99969	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.99;0.996;0.99	T	0.60505	-0.7250	10	0.54805	T	0.06	.	16.6349	0.85050	1.0:0.0:0.0:0.0	.	942;634;942	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	R	942;942;634;634	ENSP00000260766:K942R;ENSP00000360431:K942R;ENSP00000360438:K634R;ENSP00000360426:K634R	ENSP00000260766:K942R	K	+	2	0	PLCE1	95996097	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	8.789000	0.91839	2.330000	0.79161	0.477000	0.44152	AAG	PLCE1	-	NULL		0.473	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	A	NM_016341		96006107	+1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	G
PLCXD2	257068	genome.wustl.edu	37	3	111439761	111439761	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:111439761T>G	ENST00000477665.1	+	3	1190				PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000393934.3_Intron	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2						lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AATGTTGAATTTGTTGATCCA	0.423																																																	0													42.0	36.0	38.0					3																	111439761		692	1591	2283	SO:0001627	intron_variant	257068			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.866+6786T>G	3.37:g.111439761T>G			Q96N12	RNA	SNP	-	NULL	ENST00000477665.1	37	NULL	CCDS54619.1	3																																																																																			PLCXD2	-	-		0.423	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCXD2	HGNC	protein_coding	OTTHUMT00000354322.1	T	NM_153268		111439761	+1	no_errors	ENST00000472215	ensembl	human	putative	70_37	rna	SNP	0.883	G
PLCZ1	89869	genome.wustl.edu	37	12	18854471	18854471	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:18854471T>G	ENST00000538330.1	-	5	708	c.327A>C	c.(325-327)aaA>aaC	p.K109N	PLCZ1_ENST00000541695.1_Missense_Mutation_p.K190N|PLCZ1_ENST00000435379.1_Missense_Mutation_p.K132N|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.K134N|PLCZ1_ENST00000447925.2_Missense_Mutation_p.K325N|PLCZ1_ENST00000266505.7_Missense_Mutation_p.K327N					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAGGTAACTTTTTTACCCCTG	0.378																																																	0													135.0	139.0	137.0					12																	18854471		2202	4300	6502	SO:0001583	missense	89869			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.327A>C	12.37:g.18854471T>G	ENSP00000445880:p.Lys109Asn			Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,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,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.K327N	ENST00000538330.1	37	c.981		12	.	.	.	.	.	.	.	.	.	.	T	9.065	0.995429	0.19043	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242;ENST00000539072	T;T;T;T;T;T;T;T;T	0.75477	2.75;0.66;0.66;-0.03;0.66;-0.03;-0.03;0.66;-0.94	4.99	-3.52	0.04682	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	1.255140	0.05147	N	0.495385	T	0.55689	0.1936	N	0.24115	0.695	0.09310	N	1	B;B	0.23735	0.09;0.09	B;B	0.16722	0.015;0.016	T	0.33803	-0.9854	10	0.24483	T	0.36	.	6.4138	0.21705	0.0:0.4403:0.1515:0.4082	.	327;109	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	N	109;327;325;132;190;134;62;68;154	ENSP00000445880:K109N;ENSP00000266505:K327N;ENSP00000402358:K325N;ENSP00000400504:K132N;ENSP00000443349:K190N;ENSP00000445026:K134N;ENSP00000445889:K62N;ENSP00000443762:K68N;ENSP00000438629:K154N	ENSP00000266505:K327N	K	-	3	2	PLCZ1	18745738	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.246000	0.08878	-0.574000	0.05990	0.455000	0.32223	AAA	PLCZ1	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.378	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401666.3	T	NM_033123		18854471	-1	no_errors	ENST00000266505	ensembl	human	known	70_37	missense	SNP	0.000	G
PLEKHA5	54477	genome.wustl.edu	37	12	19506935	19506935	+	Splice_Site	SNP	C	C	T	rs572731528		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:19506935C>T	ENST00000299275.6	+	20	2645	c.2639C>T	c.(2638-2640)aCg>aTg	p.T880M	PLEKHA5_ENST00000355397.3_Splice_Site_p.T938M|PLEKHA5_ENST00000543806.1_Splice_Site_p.T862M|PLEKHA5_ENST00000317589.4_Splice_Site_p.T943M|PLEKHA5_ENST00000429027.2_Splice_Site_p.T1046M|PLEKHA5_ENST00000539256.1_Splice_Site_p.T638M|PLEKHA5_ENST00000538714.1_Splice_Site_p.T938M|PLEKHA5_ENST00000424268.1_Splice_Site_p.T869M|PLEKHA5_ENST00000359180.3_Splice_Site_p.T824M	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	880					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATCTAAGAACGGTATTTAAC	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		12907	0.001		0.0	False		,,,				2504	0.0				Pancreas(196;329 2193 11246 14234 19524)												0													95.0	90.0	92.0					12																	19506935		2203	4300	6503	SO:0001630	splice_region_variant	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2640+1C>T	12.37:g.19506935C>T			A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.T943M	ENST00000299275.6	37	c.2828	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767045	0.49574	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.30448	2.82;2.82;1.53;2.82;2.82;2.82;2.82;2.82;2.82;2.82;1.53	5.04	4.12	0.48240	.	0.437819	0.21360	N	0.075816	T	0.48960	0.1529	L	0.54323	1.7	0.34903	D	0.746692	D;D;P;D;D;D;D;D	0.89917	1.0;0.971;0.952;1.0;0.991;0.985;1.0;1.0	D;P;B;D;P;P;D;D	0.81914	0.995;0.507;0.31;0.97;0.492;0.625;0.964;0.984	T	0.60835	-0.7184	10	0.52906	T	0.07	-7.9315	12.6542	0.56778	0.0:0.9167:0.0:0.0833	.	943;862;869;1041;824;1046;880;938	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	M	943;938;824;1042;1046;880;638;938;869;862;835;161	ENSP00000325155:T943M;ENSP00000347560:T938M;ENSP00000352104:T824M;ENSP00000404296:T1046M;ENSP00000299275:T880M;ENSP00000440611:T638M;ENSP00000439673:T938M;ENSP00000400411:T869M;ENSP00000439837:T862M;ENSP00000440371:T835M;ENSP00000443553:T161M	ENSP00000299275:T880M	T	+	2	0	PLEKHA5	19398202	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	2.092000	0.41700	1.047000	0.40274	0.454000	0.30748	ACG	PLEKHA5	-	NULL		0.348	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	C	NM_019012	Missense_Mutation	19506935	+1	no_errors	ENST00000317589	ensembl	human	known	70_37	missense	SNP	1.000	T
PLEKHA6	22874	genome.wustl.edu	37	1	204214041	204214041	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:204214041G>T	ENST00000272203.3	-	15	2439	c.2123C>A	c.(2122-2124)tCa>tAa	p.S708*	PLEKHA6_ENST00000414478.1_Nonsense_Mutation_p.S728*	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	708										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CGACACCAGTGAAAAGGGGCT	0.637																																																	0													9.0	11.0	11.0					1																	204214041		2173	4264	6437	SO:0001587	stop_gained	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2123C>A	1.37:g.204214041G>T	ENSP00000272203:p.Ser708*		A7MD51|Q5VTI6	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S708*	ENST00000272203.3	37	c.2123	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.077780	0.99331	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	.	.	.	5.61	5.61	0.85477	.	0.289256	0.39475	N	0.001350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6237	19.2283	0.93825	0.0:0.0:1.0:0.0	.	.	.	.	X	708;728	.	ENSP00000272203:S708X	S	-	2	0	PLEKHA6	202480664	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	8.839000	0.92120	2.638000	0.89438	0.557000	0.71058	TCA	PLEKHA6	-	NULL		0.637	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	G	NM_014935		204214041	-1	no_errors	ENST00000272203	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PLEKHG1	57480	genome.wustl.edu	37	6	151055208	151055208	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:151055208G>T	ENST00000358517.2	+	2	602	c.391G>T	c.(391-393)Gat>Tat	p.D131Y	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.D131Y			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	131	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTATGTACAAGATTTAAAAAG	0.458																																																	0													80.0	88.0	86.0					6																	151055208		2203	4300	6503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.391G>T	6.37:g.151055208G>T	ENSP00000351318:p.Asp131Tyr		Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D131Y	ENST00000358517.2	37	c.391	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912909	0.92178	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.65732	-0.17;-0.17	5.66	5.66	0.87406	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.82089	0.4961	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83937	0.0309	9	.	.	.	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	131;131	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	Y	131	ENSP00000356297:D131Y;ENSP00000351318:D131Y	.	D	+	1	0	PLEKHG1	151096901	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.070000	0.93974	2.826000	0.97356	0.655000	0.94253	GAT	PLEKHG1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.458	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	G			151055208	+1	no_errors	ENST00000358517	ensembl	human	known	70_37	missense	SNP	1.000	T
PLEKHM1	9842	genome.wustl.edu	37	17	43513298	43513298	+	3'UTR	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:43513298C>A	ENST00000430334.3	-	0	5230				PLEKHM1_ENST00000421073.2_3'UTR|PLEKHM1_ENST00000580404.1_5'UTR|ARHGAP27_ENST00000528273.1_5'Flank	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1						intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ACTGCAAAATCATTCAAAACT	0.468																																																	0																																										SO:0001624	3_prime_UTR_variant	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.*1926G>T	17.37:g.43513298C>A			Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	RNA	SNP	-	NULL	ENST00000430334.3	37	NULL	CCDS32671.1	17																																																																																			PLEKHM1	-	-		0.468	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	C	NM_014798		43513298	-1	no_errors	ENST00000580404	ensembl	human	known	70_37	rna	SNP	0.802	A
PLG	5340	genome.wustl.edu	37	6	161174003	161174003	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:161174003T>C	ENST00000308192.9	+	19	2406	c.2343T>C	c.(2341-2343)ggT>ggC	p.G781G		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	781	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTTCTTGGGGTCTTGGCTGTG	0.453																																																	0													63.0	61.0	61.0					6																	161174003		2203	4294	6497	SO:0001819	synonymous_variant	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2343T>C	6.37:g.161174003T>C			Q15146|Q5TEH4|Q6PA00	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Pept_S1A_plasmin,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G781	ENST00000308192.9	37	c.2343	CCDS5279.1	6																																																																																			PLG	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_plasmin,pfscan_Peptidase_S1_S6		0.453	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2	T	NM_000301		161174003	+1	no_errors	ENST00000308192	ensembl	human	known	70_37	silent	SNP	1.000	C
PLK4	10733	genome.wustl.edu	37	4	128813661	128813661	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:128813661T>G	ENST00000270861.5	+	10	2454	c.2180T>G	c.(2179-2181)tTt>tGt	p.F727C	RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000507249.1_Missense_Mutation_p.F666C|PLK4_ENST00000513090.1_Missense_Mutation_p.F695C|PLK4_ENST00000514379.1_Missense_Mutation_p.F686C|PLK4_ENST00000515069.1_Missense_Mutation_p.F649C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	727					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGGTTTGGTTTTATGATGGT	0.318																																					Colon(135;508 1718 19061 31832 42879)												0													141.0	130.0	134.0					4																	128813661		2202	4300	6502	SO:0001583	missense	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2180T>G	4.37:g.128813661T>G	ENSP00000270861:p.Phe727Cys		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.F727C	ENST00000270861.5	37	c.2180	CCDS3735.1	4	.	.	.	.	.	.	.	.	.	.	T	21.4	4.148293	0.78001	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	D;D;D;D;D	0.92805	-2.85;-2.63;-3.11;-2.71;-2.95	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.85945	2.785	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96965	0.9704	10	0.87932	D	0	-12.7734	15.4467	0.75235	0.0:0.0:0.0:1.0	.	695;727	O00444-2;O00444	.;PLK4_HUMAN	C	727;649;695;666;686	ENSP00000270861:F727C;ENSP00000421774:F649C;ENSP00000427554:F695C;ENSP00000423412:F666C;ENSP00000423582:F686C	ENSP00000270861:F727C	F	+	2	0	PLK4	129033111	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.748000	0.85085	2.050000	0.60909	0.260000	0.18958	TTT	PLK4	-	NULL		0.318	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	T			128813661	+1	no_errors	ENST00000270861	ensembl	human	known	70_37	missense	SNP	1.000	G
PLRG1	5356	genome.wustl.edu	37	4	155461841	155461841	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:155461841G>A	ENST00000499023.2	-	10	970	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	PLRG1_ENST00000393905.2_Missense_Mutation_p.R282W|PLRG1_ENST00000302078.5_Missense_Mutation_p.R273W	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	282					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TGATAATGCCGTATAACCTAA	0.358																																																	0													103.0	98.0	100.0					4																	155461841		2203	4300	6503	SO:0001583	missense	5356			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.844C>T	4.37:g.155461841G>A	ENSP00000424417:p.Arg282Trp		B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R282W	ENST00000499023.2	37	c.844	CCDS34083.1	4	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126032	0.56721	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078	T;T;T	0.61274	0.12;0.12;0.12	5.69	-0.183	0.13284	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	0.71031	0.3292	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	T	0.72836	-0.4172	10	0.87932	D	0	-20.7384	15.5219	0.75871	0.0:0.0:0.5462:0.4537	.	273;282	O43660-2;O43660	.;PLRG1_HUMAN	W	282;282;273	ENSP00000424417:R282W;ENSP00000377483:R282W;ENSP00000303191:R273W	ENSP00000303191:R273W	R	-	1	2	PLRG1	155681291	1.000000	0.71417	0.996000	0.52242	0.544000	0.35116	0.695000	0.25527	-0.252000	0.09528	-0.335000	0.08231	CGG	PLRG1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.358	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLRG1	HGNC	protein_coding	OTTHUMT00000364824.1	G	NM_002669		155461841	-1	no_errors	ENST00000393905	ensembl	human	known	70_37	missense	SNP	0.998	A
PLXNA2	5362	genome.wustl.edu	37	1	208383573	208383573	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:208383573C>T	ENST00000367033.3	-	3	2129					NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2						axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AAGAGGGACTCTTTGCTGAGG	0.448																																																	0													37.0	36.0	36.0					1																	208383573		876	1991	2867	SO:0001627	intron_variant	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1371+51G>A	1.37:g.208383573C>T			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	RNA	SNP	-	NULL	ENST00000367033.3	37	NULL	CCDS31013.1	1																																																																																			PLXNA2	-	-		0.448	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	C	NM_025179		208383573	-1	no_errors	ENST00000460870	ensembl	human	putative	70_37	rna	SNP	0.000	T
PLXNB3	5365	genome.wustl.edu	37	X	153040415	153040415	+	Missense_Mutation	SNP	G	G	A	rs200530402		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:153040415G>A	ENST00000361971.5	+	24	4126	c.4012G>A	c.(4012-4014)Gag>Aag	p.E1338K	PLXNB3_ENST00000538966.1_Missense_Mutation_p.E1361K|PLXNB3_ENST00000538776.1_Missense_Mutation_p.E991K|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R972Q	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1338					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.E1338K(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCTACGCCGAGCGCGCCTT	0.706																																																	1	Substitution - Missense(1)	skin(1)						G	LYS/GLU,LYS/GLU	0,3832		0,0,0,1631,570	46.0	48.0	47.0		4081,4012	5.1	0.7	X		47	1,6716		0,0,1,2425,1866	yes	missense,missense	PLXNB3	NM_001163257.1,NM_005393.2	56,56	0,0,1,4056,2436	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	1361/1933,1338/1910	153040415	1,10548	2201	4292	6493	SO:0001583	missense	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4012G>A	X.37:g.153040415G>A	ENSP00000355378:p.Glu1338Lys		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,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.E1361K	ENST00000361971.5	37	c.4081	CCDS14729.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.16|14.16	2.451896|2.451896	0.43531|0.43531	0.0|0.0	1.49E-4|1.49E-4	ENSG00000198753|ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776|ENST00000538282	T;T;T|T	0.11821|0.69561	2.74;2.74;2.74|-0.41	5.08|5.08	5.08|5.08	0.68730|0.68730	Plexin, cytoplasmic RasGAP domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77239|0.77239	0.4101|0.4101	M|M	0.79123|0.79123	2.44|2.44	0.58432|0.58432	D|D	0.999991|0.999991	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.75020|.	0.985;0.975;0.985|.	T|T	0.78481|0.78481	-0.2187|-0.2187	10|6	0.06494|.	T|.	0.89|.	.|.	12.6112|12.6112	0.56552|0.56552	0.0:0.164:0.836:0.0|0.0:0.164:0.836:0.0	.|.	991;1361;1338|.	B7Z3H9;F5H773;Q9ULL4|.	.;.;PLXB3_HUMAN|.	K|Q	1361;1338;991|972	ENSP00000442736:E1361K;ENSP00000355378:E1338K;ENSP00000445569:E991K|ENSP00000441919:R972Q	ENSP00000355378:E1338K|.	E|R	+|+	1|2	0|0	PLXNB3|PLXNB3	152693609|152693609	0.999000|0.999000	0.42202|0.42202	0.744000|0.744000	0.31058|0.31058	0.013000|0.013000	0.08279|0.08279	2.720000|2.720000	0.47252|0.47252	2.086000|2.086000	0.62901|0.62901	0.436000|0.436000	0.28706|0.28706	GAG|CGA	PLXNB3	-	pfam_Plexin_cytoplasmic_RasGAP_dom		0.706	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	G			153040415	+1	no_errors	ENST00000538966	ensembl	human	known	70_37	missense	SNP	0.997	A
PLXNC1	10154	genome.wustl.edu	37	12	94699043	94699043	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:94699043G>T	ENST00000258526.4	+	31	4938	c.4689G>T	c.(4687-4689)aaG>aaT	p.K1563N	PLXNC1_ENST00000545312.1_Missense_Mutation_p.K302N|PLXNC1_ENST00000547057.1_Missense_Mutation_p.K610N	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1563					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATGAAAAGAAGAAATGCAAGT	0.418																																																	0													63.0	61.0	62.0					12																	94699043		2203	4300	6503	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4689G>T	12.37:g.94699043G>T	ENSP00000258526:p.Lys1563Asn		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.K1563N	ENST00000258526.4	37	c.4689	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529035	0.44969	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.47869	3.03;2.44;0.83	6.11	6.11	0.99139	.	0.096626	0.64402	D	0.000002	T	0.53530	0.1802	L	0.27053	0.805	0.54753	D	0.999988	D;D	0.76494	0.998;0.999	D;D	0.80764	0.981;0.994	T	0.49634	-0.8919	10	0.39692	T	0.17	.	11.5827	0.50900	0.1203:0.0:0.8797:0.0	.	610;1563	B4DHQ7;O60486	.;PLXC1_HUMAN	N	1563;610;302	ENSP00000258526:K1563N;ENSP00000446720:K610N;ENSP00000439225:K302N	ENSP00000258526:K1563N	K	+	3	2	PLXNC1	93223174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.746000	0.47467	2.906000	0.99361	0.655000	0.94253	AAG	PLXNC1	-	NULL		0.418	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	G			94699043	+1	no_errors	ENST00000258526	ensembl	human	known	70_37	missense	SNP	1.000	T
PMS1	5378	genome.wustl.edu	37	2	190660497	190660497	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:190660497G>T	ENST00000441310.2	+	3	368	c.135G>T	c.(133-135)gaG>gaT	p.E45D	PMS1_ENST00000447232.2_Missense_Mutation_p.E45D|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000374826.4_Missense_Mutation_p.E45D|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409985.1_Missense_Mutation_p.E45D|PMS1_ENST00000409823.3_Missense_Mutation_p.E45D	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	45					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTTTATAGGAGAACTATGGAT	0.313			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																															yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0													53.0	54.0	54.0					2																	190660497		2203	4300	6503	SO:0001583	missense	5378				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.135G>T	2.37:g.190660497G>T	ENSP00000406490:p.Glu45Asp		D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N	p.E45D	ENST00000441310.2	37	c.135	CCDS2302.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119540	0.77323	.	.	ENSG00000064933	ENST00000441310;ENST00000409985;ENST00000409823;ENST00000374826;ENST00000424766;ENST00000447232;ENST00000420421	D;D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.8	0.0162	0.14107	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.043248	0.85682	D	0.000000	D	0.95674	0.8593	M	0.72353	2.195	0.80722	D	1	P;B;B;P;P;P;P	0.46395	0.877;0.363;0.211;0.872;0.771;0.771;0.771	P;B;B;P;P;P;P	0.61397	0.809;0.38;0.208;0.888;0.753;0.753;0.753	D	0.93870	0.7161	10	0.49607	T	0.09	-12.2907	11.9305	0.52843	0.4231:0.0:0.5769:0.0	.	45;45;45;45;45;45;45	B4DMF4;E9PC40;Q5FBZ4;Q5FBZ9;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	D	45	ENSP00000406490:E45D;ENSP00000386623:E45D;ENSP00000387125:E45D;ENSP00000363959:E45D;ENSP00000410082:E45D;ENSP00000401064:E45D;ENSP00000391136:E45D	ENSP00000343888:E45D	E	+	3	2	PMS1	190368742	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	0.727000	0.25999	0.057000	0.16193	-0.355000	0.07637	GAG	PMS1	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N		0.313	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2	G			190660497	+1	no_errors	ENST00000441310	ensembl	human	known	70_37	missense	SNP	0.999	T
PMS1	5378	genome.wustl.edu	37	2	190738302	190738302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:190738302G>T	ENST00000441310.2	+	12	2787	c.2554G>T	c.(2554-2556)Gaa>Taa	p.E852*	PMS1_ENST00000432292.3_Nonsense_Mutation_p.E676*|PMS1_ENST00000418224.3_Nonsense_Mutation_p.E676*|PMS1_ENST00000409823.3_Nonsense_Mutation_p.E813*|PMS1_ENST00000447232.2_Nonsense_Mutation_p.E690*	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	852					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AGATTTAAAAGAAATTCTTAA	0.284			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																															yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0													43.0	49.0	47.0					2																	190738302		2203	4298	6501	SO:0001587	stop_gained	5378				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2554G>T	2.37:g.190738302G>T	ENSP00000406490:p.Glu852*		D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N	p.E852*	ENST00000441310.2	37	c.2554	CCDS2302.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.270214	0.98735	.	.	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593;ENST00000452382	.	.	.	5.97	5.97	0.96955	.	0.090430	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.8304	20.4251	0.99070	0.0:0.0:1.0:0.0	.	.	.	.	X	852;676;813;690;676;475;240	.	ENSP00000387169:E475X	E	+	1	0	PMS1	190446547	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.079000	0.76829	2.829000	0.97493	0.650000	0.86243	GAA	PMS1	-	NULL		0.284	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2	G			190738302	+1	no_errors	ENST00000441310	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PNLIP	5406	genome.wustl.edu	37	10	118307944	118307944	+	Missense_Mutation	SNP	C	C	A	rs368162708		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:118307944C>A	ENST00000369221.2	+	4	302	c.274C>A	c.(274-276)Cat>Aat	p.H92N	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	92					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	CTTTATTATTCATGGATTCAT	0.398																																																	0								C	ASN/HIS	0,4406		0,0,2203	119.0	119.0	119.0		274	5.4	1.0	10		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	PNLIP	NM_000936.2	68	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	92/466	118307944	1,13005	2203	4300	6503	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.274C>A	10.37:g.118307944C>A	ENSP00000358223:p.His92Asn		Q5VSQ2	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc	p.H92N	ENST00000369221.2	37	c.274	CCDS7594.1	10	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503040	0.85176	0.0	1.16E-4	ENSG00000175535	ENST00000369221	D	0.96168	-3.93	5.39	5.39	0.77823	Lipase, N-terminal (1);	0.073472	0.56097	D	0.000028	D	0.98934	0.9638	H	0.99545	4.62	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99072	1.0834	10	0.87932	D	0	.	18.089	0.89468	0.0:1.0:0.0:0.0	.	92	P16233	LIPP_HUMAN	N	92	ENSP00000358223:H92N	ENSP00000358223:H92N	H	+	1	0	PNLIP	118297934	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.805000	0.69143	2.814000	0.96858	0.585000	0.79938	CAT	PNLIP	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase		0.398	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIP	HGNC	protein_coding	OTTHUMT00000050524.1	C	NM_000936		118307944	+1	no_errors	ENST00000369221	ensembl	human	known	70_37	missense	SNP	1.000	A
PNLIPRP1	5407	genome.wustl.edu	37	10	118354277	118354277	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:118354277C>T	ENST00000528052.1	+	5	437	c.366C>T	c.(364-366)tgC>tgT	p.C122C	PNLIPRP1_ENST00000358834.4_Silent_p.C122C|PNLIPRP1_ENST00000534537.1_Silent_p.C122C			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	122					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACTGCATCTGCGTGGACTGGA	0.592																																																	0													120.0	102.0	108.0					10																	118354277		2203	4300	6503	SO:0001819	synonymous_variant	5407			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.366C>T	10.37:g.118354277C>T			Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.C122	ENST00000528052.1	37	c.366	CCDS7595.1	10																																																																																			PNLIPRP1	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc,prints_Lipase		0.592	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	C	NM_006229		118354277	+1	no_errors	ENST00000358834	ensembl	human	known	70_37	silent	SNP	0.401	T
PNPO	55163	genome.wustl.edu	37	17	46020749	46020749	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:46020749T>A	ENST00000225573.4	+	2	321	c.216T>A	c.(214-216)tgT>tgA	p.C72*	RP11-6N17.9_ENST00000582262.1_RNA|AC003665.1_ENST00000585280.1_RNA|PNPO_ENST00000434554.2_Nonsense_Mutation_p.C72*|AC003665.1_ENST00000411573.2_RNA|PNPO_ENST00000534893.1_Intron|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|PNPO_ENST00000544840.1_Nonsense_Mutation_p.C72*	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	72					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						CTGTTCAGTGTCCTGACATAG	0.512																																																	0													157.0	129.0	139.0					17																	46020749		2203	4300	6503	SO:0001587	stop_gained	55163			AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"""pyridoxine 5'-phosphate oxidase"""			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.216T>A	17.37:g.46020749T>A	ENSP00000225573:p.Cys72*		B4E0V0|B4E152|B4E1D7|D3DTT9	Nonsense_Mutation	SNP	pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase	p.C72*	ENST00000225573.4	37	c.216	CCDS11522.1	17	.	.	.	.	.	.	.	.	.	.	T	28.9	4.956781	0.92726	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840	.	.	.	4.67	1.0	0.19881	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-7.0884	7.0127	0.24871	0.0:0.5612:0.0:0.4388	.	.	.	.	X	72	.	ENSP00000225573:C72X	C	+	3	2	PNPO	43375748	0.772000	0.28567	1.000000	0.80357	0.930000	0.56654	-0.105000	0.10907	0.256000	0.21614	0.379000	0.24179	TGT	PNPO	-	superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase		0.512	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPO	HGNC	protein_coding	OTTHUMT00000441407.1	T	NM_018129		46020749	+1	no_errors	ENST00000225573	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PNPT1	87178	genome.wustl.edu	37	2	55906874	55906874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:55906874C>A	ENST00000447944.2	-	8	708	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	208					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAAGACATTTCTTTTCTTGTT	0.328																																																	0													121.0	122.0	121.0					2																	55906874		2201	4299	6500	SO:0001587	stop_gained	87178			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.622G>T	2.37:g.55906874C>A	ENSP00000400646:p.Glu208*		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Nonsense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.E208*	ENST00000447944.2	37	c.622	CCDS1856.1	2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210848	0.79240	.	.	ENSG00000138035	ENST00000447944	.	.	.	5.0	5.0	0.66597	.	0.054540	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.2309	18.3432	0.90313	0.0:1.0:0.0:0.0	.	.	.	.	X	208	.	ENSP00000386075:E208X	E	-	1	0	PNPT1	55760378	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.676000	0.54612	2.517000	0.84864	0.549000	0.68633	GAA	PNPT1	-	pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2,pirsf_PNPase,tigrfam_PNPase		0.328	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	HGNC	protein_coding	OTTHUMT00000251481.2	C	NM_033109		55906874	-1	no_errors	ENST00000415374	ensembl	human	known	70_37	nonsense	SNP	1.000	A
POLA1	5422	genome.wustl.edu	37	X	25013932	25013932	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:25013932G>T	ENST00000379059.3	+	37	4269	c.4254G>T	c.(4252-4254)aaG>aaT	p.K1418N	POLA1_ENST00000379068.3_Missense_Mutation_p.K1424N	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1418					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	ATAAATTGAAGAAGCAATTTT	0.403																																																	0													51.0	46.0	47.0					X																	25013932		2202	4300	6502	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.4254G>T	X.37:g.25013932G>T	ENSP00000368349:p.Lys1418Asn		Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.K1424N	ENST00000379059.3	37	c.4272	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194135	0.38707	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.18338	2.22;2.23	5.61	4.75	0.60458	Zinc finger, DNA-directed DNA polymerase, family B, alpha (1);	0.627918	0.16355	N	0.218051	T	0.17746	0.0426	M	0.66939	2.045	0.38711	D	0.953218	B	0.09022	0.002	B	0.09377	0.004	T	0.06445	-1.0826	10	0.31617	T	0.26	-5.9011	5.9343	0.19156	0.1588:0.0:0.6865:0.1547	.	1418	P09884	DPOLA_HUMAN	N	1424;1418	ENSP00000368358:K1424N;ENSP00000368349:K1418N	ENSP00000368349:K1418N	K	+	3	2	POLA1	24923853	1.000000	0.71417	0.396000	0.26296	0.357000	0.29423	2.621000	0.46418	1.150000	0.42419	0.523000	0.50628	AAG	POLA1	-	pfam_Znf_DNA-dir_DNA_pol_B_alpha		0.403	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	G	NM_016937		25013932	+1	no_errors	ENST00000379068	ensembl	human	known	70_37	missense	SNP	0.557	T
POLE	5426	genome.wustl.edu	37	12	133215718	133215718	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:133215718A>C	ENST00000320574.5	-	40	5588	c.5545T>G	c.(5545-5547)Ttc>Gtc	p.F1849V	POLE_ENST00000535270.1_Missense_Mutation_p.F1822V|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1849					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CACTGCAGGAAGAGCTTCTTC	0.607								DNA polymerases (catalytic subunits)			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													221.0	162.0	182.0					12																	133215718		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5545T>G	12.37:g.133215718A>C	ENSP00000322570:p.Phe1849Val	1601	Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.F1860V	ENST00000320574.5	37	c.5578	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	A	32	5.172588	0.94807	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.25579	1.79;1.79;1.79	5.62	5.62	0.85841	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.967;0.999	P;D	0.78314	0.838;0.991	T	0.58047	-0.7705	10	0.72032	D	0.01	.	15.8271	0.78718	1.0:0.0:0.0:0.0	.	1849;59	Q07864;B3KS74	DPOE1_HUMAN;.	V	59;1849;1860;1822	ENSP00000322570:F1849V;ENSP00000406383:F1860V;ENSP00000445753:F1822V	ENSP00000322570:F1849V	F	-	1	0	POLE	131725791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.239000	0.95389	2.149000	0.67028	0.533000	0.62120	TTC	POLE	-	pfam_DNA_pol_e_suA_C		0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	A	NM_006231		133215718	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	missense	SNP	1.000	C
POLE	5426	genome.wustl.edu	37	12	133253151	133253151	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:133253151G>A	ENST00000320574.5	-	9	933	c.890C>T	c.(889-891)tCc>tTc	p.S297F	POLE_ENST00000535270.1_Missense_Mutation_p.S270F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	297					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GATCATGTAGGAAATCATCAT	0.527								DNA polymerases (catalytic subunits)																																									0													104.0	90.0	95.0					12																	133253151		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.890C>T	12.37:g.133253151G>A	ENSP00000322570:p.Ser297Phe		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.S308F	ENST00000320574.5	37	c.923	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025347	0.93518	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.68	5.68	0.88126	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69105	-0.5233	10	0.87932	D	0	.	19.7802	0.96413	0.0:0.0:1.0:0.0	.	270;297	F5H1D6;Q07864	.;DPOE1_HUMAN	F	297;308;270;77;232	ENSP00000322570:S297F;ENSP00000406383:S308F;ENSP00000445753:S270F;ENSP00000442519:S77F	ENSP00000322570:S297F	S	-	2	0	POLE	131763224	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.762000	0.98944	2.669000	0.90835	0.561000	0.74099	TCC	POLE	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B		0.527	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	G	NM_006231		133253151	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	missense	SNP	1.000	A
POLG2	11232	genome.wustl.edu	37	17	62488865	62488865	+	Silent	SNP	C	C	T	rs200846949		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:62488865C>T	ENST00000539111.2	-	3	781	c.714G>A	c.(712-714)tcG>tcA	p.S238S		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	238					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			ACCATACTAACGAAGCTTCAG	0.378													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17867	0.0		0.0	False		,,,				2504	0.0				Colon(3;18 21 435 17652 48887)												0													50.0	44.0	46.0					17																	62488865		2203	4300	6503	SO:0001819	synonymous_variant	11232			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.714G>A	17.37:g.62488865C>T			O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Silent	SNP	pfam_Anticodon-bd,superfamily_Anticodon-bd	p.S238	ENST00000539111.2	37	c.714	CCDS32706.1	17																																																																																			POLG2	-	NULL		0.378	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG2	HGNC	protein_coding	OTTHUMT00000443820.1	C	NM_007215		62488865	-1	no_errors	ENST00000539111	ensembl	human	known	70_37	silent	SNP	0.001	T
POLI	11201	genome.wustl.edu	37	18	51809299	51809299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:51809299G>T	ENST00000579534.1	+	6	1032	c.889G>T	c.(889-891)Gaa>Taa	p.E297*	POLI_ENST00000217800.5_Nonsense_Mutation_p.E171*|POLI_ENST00000579434.1_Nonsense_Mutation_p.E194*|POLI_ENST00000406285.3_Nonsense_Mutation_p.E218*	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	297					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TTTAGAAAAAGAATTAGGAAT	0.398								DNA polymerases (catalytic subunits)																																									0													49.0	48.0	48.0					18																	51809299		2203	4300	6503	SO:0001587	stop_gained	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.889G>T	18.37:g.51809299G>T	ENSP00000462664:p.Glu297*		Q8N590|Q9H0S1|Q9NYH6	Nonsense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N	p.E297*	ENST00000579534.1	37	c.889	CCDS11954.2	18	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737212	0.89482	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	.	.	.	5.96	5.09	0.68999	.	0.120624	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-24.9896	14.0426	0.64687	0.0733:0.0:0.9267:0.0	.	.	.	.	X	218;297	.	ENSP00000217800:E297X	E	+	1	0	POLI	50063297	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.629000	0.54266	1.527000	0.49086	0.655000	0.94253	GAA	POLI	-	pfam_DNA_pol_Y-fam_little_finger		0.398	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLI	HGNC	protein_coding	OTTHUMT00000256002.3	G	NM_007195		51809299	+1	no_errors	ENST00000579534	ensembl	human	known	70_37	nonsense	SNP	1.000	T
POLN	353497	genome.wustl.edu	37	4	2176478	2176478	+	Splice_Site	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:2176478C>A	ENST00000511885.2	-	10	1602	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Splice_Site_p.D417Y			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	417					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AAACCATAATCCTGTTTAATA	0.313								DNA polymerases (catalytic subunits)																																									0													54.0	60.0	58.0					4																	2176478		2203	4300	6503	SO:0001630	splice_region_variant	353497			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1249-1G>T	4.37:g.2176478C>A			A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.D417Y	ENST00000511885.2	37	c.1249	CCDS3360.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.626956|1.626956	0.28978|0.28978	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857|ENST00000511098	T;T|.	0.06294|.	3.32;3.32|.	5.64|5.64	4.81|4.81	0.61882|0.61882	.|.	1.156050|.	0.06136|.	N|.	0.671578|.	T|T	0.35682|0.35682	0.0940|0.0940	L|L	0.29908|0.29908	0.895|0.895	0.24812|0.24812	N|N	0.992633|0.992633	P;B;B|.	0.36171|.	0.541;0.104;0.128|.	B;B;B|.	0.32022|.	0.116;0.044;0.139|.	T|T	0.21861|0.21861	-1.0233|-1.0233	10|5	0.72032|.	D|.	0.01|.	0.143|0.143	10.5789|10.5789	0.45244|0.45244	0.0:0.9113:0.0:0.0887|0.0:0.9113:0.0:0.0887	.|.	417;7;417|.	E7ERY2;C9JDP8;Q7Z5Q5|.	.;.;DPOLN_HUMAN|.	Y|S	417;417;108;7|50	ENSP00000435506:D417Y;ENSP00000372316:D417Y|.	ENSP00000253313:D108Y|.	D|R	-|-	1|3	0|2	POLN|POLN	2146276|2146276	0.944000|0.944000	0.32072|0.32072	0.510000|0.510000	0.27712|0.27712	0.072000|0.072000	0.16883|0.16883	1.883000|1.883000	0.39658|0.39658	1.409000|1.409000	0.46915|0.46915	0.462000|0.462000	0.41574|0.41574	GAT|AGG	POLN	-	superfamily_RNaseH-like_dom		0.313	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	C	NM_181808	Missense_Mutation	2176478	-1	no_errors	ENST00000382865	ensembl	human	known	70_37	missense	SNP	0.914	A
POLQ	10721	genome.wustl.edu	37	3	121209199	121209199	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:121209199C>T	ENST00000264233.5	-	16	2707	c.2579G>A	c.(2578-2580)cGa>cAa	p.R860Q		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	860					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.R995Q(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCAGATAGTTCGCATATTGCG	0.458								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												2	Substitution - Missense(2)	large_intestine(2)											170.0	150.0	157.0					3																	121209199		2203	4300	6503	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2579G>A	3.37:g.121209199C>T	ENSP00000264233:p.Arg860Gln		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.R860Q	ENST00000264233.5	37	c.2579	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424279	0.62733	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.54071	0.59	5.47	2.69	0.31865	.	0.250174	0.40908	N	0.000990	T	0.52693	0.1750	M	0.86178	2.8	0.46774	D	0.999199	B;B	0.28636	0.218;0.196	B;B	0.18871	0.023;0.017	T	0.56780	-0.7922	10	0.72032	D	0.01	.	9.8985	0.41334	0.0:0.7218:0.0:0.2782	.	860;32	O75417;O75417-2	DPOLQ_HUMAN;.	Q	483;860;996	ENSP00000264233:R860Q	ENSP00000264233:R860Q	R	-	2	0	POLQ	122691889	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.478000	0.35442	0.684000	0.31448	0.557000	0.71058	CGA	POLQ	-	NULL		0.458	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	C	NM_199420		121209199	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	T
POLR2A	5430	genome.wustl.edu	37	17	7403990	7403990	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:7403990G>A	ENST00000322644.6	+	11	2103	c.1704G>A	c.(1702-1704)tcG>tcA	p.S568S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	568					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGTTCCTGTCGACGTGGGATG	0.532																																																	0													86.0	81.0	83.0					17																	7403990		2203	4300	6503	SO:0001819	synonymous_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1704G>A	17.37:g.7403990G>A			A6NN93|B9EH88|Q6NX41	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.S568	ENST00000322644.6	37	c.1704	CCDS32548.1	17																																																																																			POLR2A	-	pfam_RNA_pol_Rpb1_3		0.532	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	G	NM_000937		7403990	+1	no_errors	ENST00000322644	ensembl	human	known	70_37	silent	SNP	0.214	A
POLR2H	5437	genome.wustl.edu	37	3	184082932	184082932	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:184082932C>T	ENST00000456318.1	+	4	1218	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	POLR2H_ENST00000438240.1_Missense_Mutation_p.R21W|POLR2H_ENST00000430783.1_Missense_Mutation_p.R57W|POLR2H_ENST00000429568.1_Missense_Mutation_p.R57W|POLR2H_ENST00000296223.3_Missense_Mutation_p.R57W|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000443489.1_Missense_Mutation_p.R21W|POLR2H_ENST00000452961.1_Missense_Mutation_p.R21W	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	57					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACAAGTTTCGGTTGGTCAT	0.418																																																	0													202.0	186.0	191.0					3																	184082932		2203	4300	6503	SO:0001583	missense	5437				CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"""RNA polymerase subunits"""	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.169C>T	3.37:g.184082932C>T	ENSP00000392913:p.Arg57Trp		C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Missense_Mutation	SNP	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold-like,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8	p.R57W	ENST00000456318.1	37	c.169	CCDS3264.1	3	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390982	0.82902	.	.	ENSG00000163882	ENST00000456318;ENST00000438240;ENST00000455712;ENST00000430783;ENST00000443489;ENST00000452961;ENST00000296223;ENST00000429568	.	.	.	5.48	5.48	0.80851	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86939	0.2078	9	0.66056	D	0.02	-15.6116	17.2127	0.86935	0.0:1.0:0.0:0.0	.	57	P52434	RPAB3_HUMAN	W	57;21;57;57;21;21;57;57	.	ENSP00000296223:R57W	R	+	1	2	POLR2H	185565626	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.537000	0.53590	2.730000	0.93505	0.655000	0.94253	CGG	POLR2H	-	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold-like,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8		0.418	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2H	HGNC	protein_coding	OTTHUMT00000345558.1	C	NM_006232		184082932	+1	no_errors	ENST00000296223	ensembl	human	known	70_37	missense	SNP	1.000	T
POLR3B	55703	genome.wustl.edu	37	12	106830853	106830853	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:106830853G>T	ENST00000228347.4	+	17	2022	c.1800G>T	c.(1798-1800)aaG>aaT	p.K600N	POLR3B_ENST00000539066.1_Missense_Mutation_p.K542N	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	600					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TAATTGTCAAGAAACAGAAGC	0.383																																																	0													61.0	57.0	59.0					12																	106830853		2203	4300	6503	SO:0001583	missense	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1800G>T	12.37:g.106830853G>T	ENSP00000228347:p.Lys600Asn		A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.K600N	ENST00000228347.4	37	c.1800	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824431	0.50739	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.76839	-1.05;-1.05	6.03	5.14	0.70334	RNA polymerase Rpb2, domain 4 (1);	0.040874	0.85682	D	0.000000	T	0.61098	0.2320	N	0.10972	0.075	0.80722	D	1	B	0.06786	0.001	B	0.15870	0.014	T	0.59553	-0.7433	10	0.72032	D	0.01	-27.6524	11.2043	0.48760	0.1387:0.0:0.8613:0.0	.	600	Q9NW08	RPC2_HUMAN	N	600;600;542	ENSP00000228347:K600N;ENSP00000445721:K542N	ENSP00000228347:K600N	K	+	3	2	POLR3B	105354983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.990000	0.63876	1.564000	0.49628	0.655000	0.94253	AAG	POLR3B	-	pfam_RNA_pol_Rpb2_4		0.383	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1	G	NM_018082		106830853	+1	no_errors	ENST00000228347	ensembl	human	known	70_37	missense	SNP	1.000	T
POM121	9883	genome.wustl.edu	37	7	72416226	72416226	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:72416226T>G	ENST00000434423.2	+	12	3631	c.3631T>G	c.(3631-3633)Ttt>Gtt	p.F1211V	POM121_ENST00000395270.1_Missense_Mutation_p.F946V|POM121_ENST00000358357.3_Missense_Mutation_p.F946V|NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000257622.4_Missense_Mutation_p.F946V|POM121_ENST00000446813.1_Missense_Mutation_p.F946V			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1211	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CGCCCAAGGCTTTGTTGGTGT	0.637																																																	0													22.0	21.0	21.0					7																	72416226		2203	4297	6500	SO:0001583	missense	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3631T>G	7.37:g.72416226T>G	ENSP00000405562:p.Phe1211Val		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.F1211V	ENST00000434423.2	37	c.3631		7	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135767	0.21123	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.13307	2.6;2.74;2.6;2.74;2.91	3.16	3.16	0.36331	.	0.000000	0.39544	N	0.001327	T	0.32436	0.0829	M	0.74258	2.255	0.32322	N	0.562215	D	0.76494	0.999	D	0.80764	0.994	T	0.38134	-0.9675	10	0.42905	T	0.14	.	9.5816	0.39490	0.0:0.0:0.0:1.0	.	946	A8MXF9	.	V	946;946;946;946;1211	ENSP00000393020:F946V;ENSP00000257622:F946V;ENSP00000378687:F946V;ENSP00000351124:F946V;ENSP00000405562:F1211V	ENSP00000257622:F946V	F	+	1	0	POM121	72054162	1.000000	0.71417	0.954000	0.39281	0.275000	0.26752	4.229000	0.58625	1.439000	0.47511	0.321000	0.21382	TTT	POM121	-	NULL		0.637	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	T			72416226	+1	no_errors	ENST00000434423	ensembl	human	known	70_37	missense	SNP	0.992	G
POMC	5443	genome.wustl.edu	37	2	25387631	25387631	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:25387631G>A	ENST00000405623.1	-	2	466	c.11C>T	c.(10-12)tCg>tTg	p.S4L	POMC_ENST00000380794.1_Missense_Mutation_p.S4L|POMC_ENST00000264708.3_Missense_Mutation_p.S4L|POMC_ENST00000395826.2_Missense_Mutation_p.S4L			P01189	COLI_HUMAN	proopiomelanocortin	4					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GCTGCAGCACGATCTCGGCAT	0.612																																					Colon(110;1515 1566 8452 10082 43216)												0													36.0	39.0	38.0					2																	25387631		2203	4299	6502	SO:0001583	missense	5443				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.11C>T	2.37:g.25387631G>A	ENSP00000384092:p.Ser4Leu		P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.S4L	ENST00000405623.1	37	c.11	CCDS1717.1	2	.	.	.	.	.	.	.	.	.	.	G	6.290	0.421617	0.11928	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.13	5.76	-2.16	0.07080	.	1.030420	0.07705	N	0.941071	T	0.56659	0.2000	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39461	-0.9613	10	0.07644	T	0.81	-1.5508	6.9263	0.24416	0.6002:0.0:0.2698:0.13	.	4	P01189	COLI_HUMAN	L	4	ENSP00000370171:S4L;ENSP00000384092:S4L;ENSP00000264708:S4L;ENSP00000379170:S4L;ENSP00000387993:S4L	ENSP00000264708:S4L	S	-	2	0	POMC	25241135	0.024000	0.19004	0.002000	0.10522	0.088000	0.18126	0.272000	0.18644	-0.822000	0.04306	-0.355000	0.07637	TCG	POMC	-	NULL		0.612	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	HGNC	protein_coding	OTTHUMT00000211573.3	G	NM_001035256		25387631	-1	no_errors	ENST00000264708	ensembl	human	known	70_37	missense	SNP	0.000	A
POMGNT1	55624	genome.wustl.edu	37	1	46657887	46657887	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:46657887A>C	ENST00000371984.3	-	17	1579	c.1422T>G	c.(1420-1422)gaT>gaG	p.D474E	POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.D474E|POMGNT1_ENST00000371986.3_Missense_Mutation_p.D474E|POMGNT1_ENST00000535522.1_Missense_Mutation_p.D452E|POMGNT1_ENST00000485714.1_5'UTR	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	474					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACATGTCCCAATCCCAGAGCT	0.567																																																	0													119.0	104.0	109.0					1																	46657887		2203	4300	6503	SO:0001583	missense	55624				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1422T>G	1.37:g.46657887A>C	ENSP00000361052:p.Asp474Glu		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	pfam_Glyco_trans_13	p.D474E	ENST00000371984.3	37	c.1422	CCDS531.1	1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141374	0.77775	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.54	2.56	0.30785	.	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	M	0.84433	2.695	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;1.0;1.0;0.999;1.0;1.0	D	0.95170	0.8289	10	0.41790	T	0.15	-17.795	9.2278	0.37418	0.289:0.0:0.711:0.0	.	452;452;452;474;331;474	F5H827;B7Z7Q4;B7ZAT4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;.;PMGT1_HUMAN	E	474;474;452;474	ENSP00000361052:D474E;ENSP00000361060:D474E;ENSP00000443767:D452E;ENSP00000361054:D474E	ENSP00000361052:D474E	D	-	3	2	POMGNT1	46430474	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.614000	0.36911	0.859000	0.35456	-0.248000	0.11899	GAT	POMGNT1	-	pfam_Glyco_trans_13		0.567	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT1	HGNC	protein_coding	OTTHUMT00000020146.1	A	NM_017739		46657887	-1	no_errors	ENST00000371986	ensembl	human	known	70_37	missense	SNP	1.000	C
POMT2	29954	genome.wustl.edu	37	14	77751885	77751885	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:77751885G>A	ENST00000261534.4	-	13	1625	c.1423C>T	c.(1423-1425)Cgc>Tgc	p.R475C		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	475	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TGGATGAAGCGAATTCGACTT	0.488																																																	0													249.0	269.0	262.0					14																	77751885		2203	4300	6503	SO:0001583	missense	29954			AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1423C>T	14.37:g.77751885G>A	ENSP00000261534:p.Arg475Cys		Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	p.R475C	ENST00000261534.4	37	c.1423	CCDS9857.1	14	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835203	0.91117	.	.	ENSG00000009830	ENST00000261534	D	0.88277	-2.36	5.45	5.45	0.79879	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.95799	0.8633	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96501	0.9371	10	0.87932	D	0	-18.7994	14.4855	0.67614	0.0:0.0:0.8531:0.1469	.	475	Q9UKY4	POMT2_HUMAN	C	475	ENSP00000261534:R475C	ENSP00000261534:R475C	R	-	1	0	POMT2	76821638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.378000	0.79679	2.716000	0.92895	0.655000	0.94253	CGC	POMT2	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif		0.488	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMT2	HGNC	protein_coding	OTTHUMT00000414155.1	G	NM_013382		77751885	-1	no_errors	ENST00000261534	ensembl	human	known	70_37	missense	SNP	1.000	A
PON2	5445	genome.wustl.edu	37	7	95053833	95053833	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:95053833C>T	ENST00000222572.3	-	2	385	c.139G>A	c.(139-141)Gga>Aga	p.G47R	PON2_ENST00000536183.1_Missense_Mutation_p.G68R|PON2_ENST00000433091.2_Missense_Mutation_p.G47R			Q15165	PON2_HUMAN	paraoxonase 2	47					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			ATACCAATTCCTTTAATCAGG	0.333																																					GBM(42;803 823 13649 23368 31463)												0													115.0	110.0	112.0					7																	95053833		2203	4300	6503	SO:0001583	missense	5445			M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.139G>A	7.37:g.95053833C>T	ENSP00000222572:p.Gly47Arg		A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2	p.G68R	ENST00000222572.3	37	c.202	CCDS5640.1	7	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805631	0.70682	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.49432	0.78;0.78;0.78	4.63	4.63	0.57726	Six-bladed beta-propeller, TolB-like (1);	0.177983	0.49305	D	0.000155	T	0.68476	0.3005	M	0.87900	2.915	0.58432	D	0.999996	D;D	0.56035	0.974;0.974	P;P	0.62560	0.904;0.904	T	0.71600	-0.4544	10	0.45353	T	0.12	-11.9183	13.1879	0.59693	0.0:1.0:0.0:0.0	.	47;47	A4D1H7;Q15165	.;PON2_HUMAN	R	68;45;47;47	ENSP00000440282:G68R;ENSP00000404622:G47R;ENSP00000222572:G47R	ENSP00000222572:G47R	G	-	1	0	PON2	94891769	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.757000	0.55212	2.566000	0.86566	0.460000	0.39030	GGA	PON2	-	prints_Arylesterase		0.333	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PON2	HGNC	protein_coding	OTTHUMT00000333142.1	C	NM_000305		95053833	-1	no_errors	ENST00000536183	ensembl	human	known	70_37	missense	SNP	1.000	T
PORCN	64840	genome.wustl.edu	37	X	48369723	48369723	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48369723C>T	ENST00000326194.6	+	2	220	c.177C>T	c.(175-177)ggC>ggT	p.G59G	PORCN_ENST00000486272.1_3'UTR|PORCN_ENST00000537758.1_Silent_p.G59G|PORCN_ENST00000359882.4_Silent_p.G59G|AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000355092.3_Silent_p.G59G|PORCN_ENST00000355961.4_Silent_p.G59G|PORCN_ENST00000367574.4_Intron|PORCN_ENST00000361988.3_Silent_p.G59G	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	59	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCGTGGCAGGCGGGTTCTTCA	0.547											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													151.0	123.0	133.0					X																	48369723		2203	4300	6503	SO:0001819	synonymous_variant	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.177C>T	X.37:g.48369723C>T		954	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP	pfam_MBOAT_fam	p.G59	ENST00000326194.6	37	c.177	CCDS14299.1	X																																																																																			PORCN	-	NULL		0.547	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	C	NM_022825		48369723	+1	no_errors	ENST00000326194	ensembl	human	known	70_37	silent	SNP	0.787	T
PORCN	64840	genome.wustl.edu	37	X	48371045	48371045	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48371045T>G	ENST00000326194.6	+	5	667	c.624T>G	c.(622-624)acT>acG	p.T208T	PORCN_ENST00000537758.1_Silent_p.T208T|PORCN_ENST00000359882.4_Silent_p.T208T|PORCN_ENST00000355092.3_Silent_p.T208T|PORCN_ENST00000355961.4_Silent_p.T208T|PORCN_ENST00000367574.4_Silent_p.T137T|PORCN_ENST00000361988.3_Silent_p.T208T	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	208					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCTGTCCACTTGCGTGGGCC	0.642																																																	0													66.0	56.0	60.0					X																	48371045		2203	4300	6503	SO:0001819	synonymous_variant	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.624T>G	X.37:g.48371045T>G			B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP	pfam_MBOAT_fam	p.T208	ENST00000326194.6	37	c.624	CCDS14299.1	X																																																																																			PORCN	-	pfam_MBOAT_fam		0.642	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	T	NM_022825		48371045	+1	no_errors	ENST00000326194	ensembl	human	known	70_37	silent	SNP	1.000	G
POSTN	10631	genome.wustl.edu	37	13	38171338	38171338	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:38171338G>T	ENST00000379747.4	-	2	318	c.201C>A	c.(199-201)tcC>tcA	p.S67S	POSTN_ENST00000379743.4_Silent_p.S67S|POSTN_ENST00000379742.4_Silent_p.S67S|POSTN_ENST00000541179.1_Silent_p.S67S|POSTN_ENST00000541481.1_Silent_p.S67S|POSTN_ENST00000379749.4_Silent_p.S67S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	67	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GTCCACAGATGGACTTTTTAT	0.398																																																	0													118.0	111.0	113.0					13																	38171338		2203	4300	6503	SO:0001819	synonymous_variant	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.201C>A	13.37:g.38171338G>T			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.S67	ENST00000379747.4	37	c.201	CCDS9364.1	13																																																																																			POSTN	-	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain		0.398	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	G	NM_006475		38171338	-1	no_errors	ENST00000379747	ensembl	human	known	70_37	silent	SNP	1.000	T
POU2F3	25833	genome.wustl.edu	37	11	120176482	120176482	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:120176482C>T	ENST00000543440.2	+	8	907	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	POU2F3_ENST00000260264.4_Silent_p.L255L	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	253	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGAGAAGTGGCTGAATGATGC	0.567																																																	0													116.0	95.0	102.0					11																	120176482		2203	4299	6502	SO:0001819	synonymous_variant	25833			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.757C>T	11.37:g.120176482C>T			A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.L255	ENST00000543440.2	37	c.763	CCDS8431.1	11																																																																																			POU2F3	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU		0.567	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2F3	HGNC	protein_coding	OTTHUMT00000388039.2	C			120176482	+1	no_errors	ENST00000543440	ensembl	human	known	70_37	silent	SNP	1.000	T
POU3F4	5456	genome.wustl.edu	37	X	82763444	82763444	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:82763444C>A	ENST00000373200.2	+	1	176	c.112C>A	c.(112-114)Ctc>Atc	p.L38I	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	38					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TCAGAAACTTCTCCAAAGTGA	0.587																																																	0													47.0	36.0	39.0					X																	82763444		2203	4300	6503	SO:0001583	missense	5456			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.112C>A	X.37:g.82763444C>A	ENSP00000362296:p.Leu38Ile		B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.L38I	ENST00000373200.2	37	c.112	CCDS14450.1	X	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496596	0.26861	.	.	ENSG00000196767	ENST00000373200	D	0.86164	-2.08	4.46	3.59	0.41128	.	0.146288	0.46145	D	0.000302	D	0.83202	0.5203	L	0.53249	1.67	0.38136	D	0.938312	B	0.29481	0.245	B	0.27170	0.077	T	0.81636	-0.0843	10	0.41790	T	0.15	.	12.6908	0.56974	0.0:0.8365:0.1635:0.0	.	38	P49335	PO3F4_HUMAN	I	38	ENSP00000362296:L38I	ENSP00000362296:L38I	L	+	1	0	POU3F4	82650100	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.702000	0.37836	0.983000	0.38602	0.597000	0.82753	CTC	POU3F4	-	pirsf_Transcription_factor_POU		0.587	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F4	HGNC	protein_coding	OTTHUMT00000057368.2	C	NM_000307		82763444	+1	no_errors	ENST00000373200	ensembl	human	known	70_37	missense	SNP	1.000	A
PP2D1	151649	genome.wustl.edu	37	3	20043508	20043508	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:20043508C>A	ENST00000389050.4	-	2	361	c.104G>T	c.(103-105)aGa>aTa	p.R35I		NM_001252657.1	NP_001239586.1	A8MPX8	PP2D1_HUMAN	protein phosphatase 2C-like domain containing 1	35							catalytic activity (GO:0003824)										AAAACGTTTTCTTTTGGGTAA	0.383																																																	0																																										SO:0001583	missense	151649			AK058178	CCDS58817.1	3p24.3	2011-06-24	2011-06-24	2011-06-24	ENSG00000183977	ENSG00000183977			28406	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 48"""	C3orf48		12477932	Standard	NR_027694		Approved	FLJ25449	uc021wtw.1	A8MPX8	OTTHUMG00000155393	ENST00000389050.4:c.104G>T	3.37:g.20043508C>A	ENSP00000373702:p.Arg35Ile		Q96LI7	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.R35I	ENST00000389050.4	37	c.104	CCDS58817.1	3	.	.	.	.	.	.	.	.	.	.	C	9.838	1.190357	0.21954	.	.	ENSG00000183977	ENST00000389050	T	0.25414	1.8	4.38	-5.34	0.02705	.	0.873033	0.09856	N	0.746865	T	0.22551	0.0544	.	.	.	0.09310	N	0.999996	P	0.47677	0.899	P	0.44990	0.466	T	0.17837	-1.0356	9	0.56958	D	0.05	-1.2648	9.1058	0.36696	0.0:0.2497:0.1105:0.6398	.	35	A8MPX8-2	.	I	35	ENSP00000373702:R35I	ENSP00000331295:R35I	R	-	2	0	PP2D1	20018512	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.281000	0.08456	-1.167000	0.02779	0.305000	0.20034	AGA	PP2D1	-	NULL		0.383	PP2D1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PP2D1	HGNC	protein_coding	OTTHUMT00000339833.1	C	NM_144714		20043508	-1	no_errors	ENST00000389050	ensembl	human	known	70_37	missense	SNP	0.000	A
PPARD	5467	genome.wustl.edu	37	6	35391729	35391729	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:35391729G>A	ENST00000311565.4	+	7	780	c.431G>A	c.(430-432)cGt>cAt	p.R144H	PPARD_ENST00000360694.3_Missense_Mutation_p.R144H|PPARD_ENST00000337400.2_Missense_Mutation_p.R144H|PPARD_ENST00000540939.1_Missense_Mutation_p.R41H|PPARD_ENST00000448077.2_Missense_Mutation_p.R105H|PPARD_ENST00000418635.2_Missense_Mutation_p.R46H|PPARD_ENST00000444397.1_Missense_Mutation_p.R144H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	144					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GCAGCTATCCGTTTTGGTCGG	0.617																																																	0													49.0	53.0	52.0					6																	35391729		2203	4300	6503	SO:0001583	missense	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.431G>A	6.37:g.35391729G>A	ENSP00000310928:p.Arg144His		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,pfscan_Znf_hrmn_rcpt	p.R144H	ENST00000311565.4	37	c.431	CCDS4803.1	6	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469115	0.63625	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.96587	-4.06;-4.06;-3.47;-4.06;-4.06;-4.06;-4.06	4.51	4.51	0.55191	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (1);	0.112639	0.64402	D	0.000011	D	0.97823	0.9285	M	0.77406	2.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.983	D	0.98753	1.0721	10	0.87932	D	0	.	17.4248	0.87524	0.0:0.0:1.0:0.0	.	46;105;144;144	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	H	105;144;46;144;144;144;41	ENSP00000414372:R105H;ENSP00000353916:R144H;ENSP00000413314:R46H;ENSP00000410837:R144H;ENSP00000310928:R144H;ENSP00000337063:R144H;ENSP00000443759:R41H	ENSP00000310928:R144H	R	+	2	0	PPARD	35499707	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	9.601000	0.98297	2.356000	0.79943	0.467000	0.42956	CGT	PPARD	-	prints_Str_hrmn_rcpt,pfscan_Znf_hrmn_rcpt		0.617	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARD	HGNC	protein_coding	OTTHUMT00000040288.1	G	NM_006238		35391729	+1	no_errors	ENST00000311565	ensembl	human	known	70_37	missense	SNP	1.000	A
PPARGC1B	133522	genome.wustl.edu	37	5	149215909	149215909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:149215909G>T	ENST00000309241.5	+	8	1923	c.1891G>T	c.(1891-1893)Gaa>Taa	p.E631*	PPARGC1B_ENST00000360453.4_Nonsense_Mutation_p.E592*|PPARGC1B_ENST00000394320.3_Nonsense_Mutation_p.E631*|PPARGC1B_ENST00000403750.1_Nonsense_Mutation_p.E567*	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	631					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTAGGCAAAGAAATAGCTCT	0.592																																																	0													116.0	117.0	117.0					5																	149215909		2203	4300	6503	SO:0001587	stop_gained	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1891G>T	5.37:g.149215909G>T	ENSP00000312649:p.Glu631*		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E631*	ENST00000309241.5	37	c.1891	CCDS4298.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.25|18.25	3.581486|3.581486	0.65992|0.65992	.|.	.|.	ENSG00000155846|ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750|ENST00000434684	.|.	.|.	.|.	4.3|4.3	3.43|3.43	0.39272|0.39272	.|.	0.968836|.	0.08555|.	N|.	0.928412|.	.|T	.|0.48822	.|0.1521	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57266	.|-0.7841	.|3	0.07482|.	T|.	0.82|.	-3.4149|-3.4149	8.1113|8.1113	0.30916|0.30916	0.0857:0.1588:0.7555:0.0|0.0857:0.1588:0.7555:0.0	.|.	.|.	.|.	.|.	X|I	592;631;631;567|317	.|.	ENSP00000312649:E631X|.	E|R	+|+	1|2	0|0	PPARGC1B|PPARGC1B	149196102|149196102	0.989000|0.989000	0.36119|0.36119	0.025000|0.025000	0.17156|0.17156	0.012000|0.012000	0.07955|0.07955	3.042000|3.042000	0.49815|0.49815	0.947000|0.947000	0.37659|0.37659	0.456000|0.456000	0.33151|0.33151	GAA|AGA	PPARGC1B	-	NULL		0.592	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	HGNC	protein_coding	OTTHUMT00000252334.1	G	NM_133263		149215909	+1	no_errors	ENST00000309241	ensembl	human	known	70_37	nonsense	SNP	0.600	T
PPEF2	5470	genome.wustl.edu	37	4	76797520	76797520	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:76797520C>A	ENST00000286719.7	-	11	1596	c.1240G>T	c.(1240-1242)Gag>Tag	p.E414*		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	414	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGGGCTCCTCTTTCTCTCCG	0.682																																					NSCLC(105;1359 1603 15961 44567 47947)												0													32.0	36.0	34.0					4																	76797520		2203	4300	6503	SO:0001587	stop_gained	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1240G>T	4.37:g.76797520C>A	ENSP00000286719:p.Glu414*		O14831	Nonsense_Mutation	SNP	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Ser/Thr-sp_prot-phosphatase	p.E414*	ENST00000286719.7	37	c.1240	CCDS34013.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.338075	0.97485	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	.	.	.	4.58	1.69	0.24217	.	1.198740	0.06091	N	0.663609	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-0.4802	5.0192	0.14352	0.0:0.5795:0.2207:0.1998	.	.	.	.	X	414	.	ENSP00000286719:E414X	E	-	1	0	PPEF2	77016544	0.008000	0.16893	0.002000	0.10522	0.008000	0.06430	-0.062000	0.11674	0.054000	0.16065	0.491000	0.48974	GAG	PPEF2	-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase		0.682	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	HGNC	protein_coding	OTTHUMT00000362929.1	C	NM_006239		76797520	-1	no_errors	ENST00000286719	ensembl	human	known	70_37	nonsense	SNP	0.016	A
PPFIA1	8500	genome.wustl.edu	37	11	70194459	70194459	+	Missense_Mutation	SNP	G	G	A	rs149738073		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:70194459G>A	ENST00000253925.7	+	16	2311	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R699H	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	699					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGCAGTGGGCGCTCCACCCCA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		14341	0.001		0.0	False		,,,				2504	0.0																0								G	HIS/ARG,HIS/ARG	0,4400		0,0,2200	169.0	153.0	159.0		2096,2096	5.7	1.0	11	dbSNP_134	159	1,8587	1.2+/-3.3	0,1,4293	yes	missense,missense	PPFIA1	NM_003626.2,NM_177423.1	29,29	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	699/1203,699/1186	70194459	1,12987	2200	4294	6494	SO:0001583	missense	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2096G>A	11.37:g.70194459G>A	ENSP00000253925:p.Arg699His		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R699H	ENST00000253925.7	37	c.2096	CCDS31627.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.02|13.02	2.111639|2.111639	0.37242|0.37242	0.0|0.0	1.16E-4|1.16E-4	ENSG00000131626|ENSG00000131626	ENST00000528750|ENST00000253925;ENST00000389547;ENST00000544950	.|T;T	.|0.37584	.|1.19;1.19	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.065061	.|0.64402	.|D	.|0.000006	T|T	0.23965|0.23965	0.0580|0.0580	N|N	0.11673|0.11673	0.155|0.155	0.47094|0.47094	D|D	0.999313|0.999313	.|B;B	.|0.22746	.|0.025;0.074	.|B;B	.|0.19666	.|0.012;0.026	T|T	0.07046|0.07046	-1.0793|-1.0793	5|10	.|0.19590	.|T	.|0.45	.|.	19.717|19.717	0.96124|0.96124	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|699;699	.|Q13136;Q13136-2	.|LIPA1_HUMAN;.	T|H	103|699;699;186	.|ENSP00000253925:R699H;ENSP00000374198:R699H	.|ENSP00000253925:R699H	A|R	+|+	1|2	0|0	PPFIA1|PPFIA1	69872107|69872107	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.881000|0.881000	0.50899|0.50899	4.252000|4.252000	0.58785|0.58785	2.661000|2.661000	0.90470|0.90470	0.655000|0.655000	0.94253|0.94253	GCT|CGC	PPFIA1	-	NULL		0.597	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	G	NM_003626		70194459	+1	no_errors	ENST00000253925	ensembl	human	known	70_37	missense	SNP	1.000	A
PPFIA2	8499	genome.wustl.edu	37	12	81747087	81747087	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:81747087C>A	ENST00000549396.1	-	17	1965	c.1805G>T	c.(1804-1806)aGa>aTa	p.R602I	PPFIA2_ENST00000407050.4_Missense_Mutation_p.R528I|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R602I|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R584I|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R584I|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R169I|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R449I|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R503I|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R602I|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R602I	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	602					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTGTTGAGTTCTATTCCACTC	0.353																																																	0													132.0	123.0	126.0					12																	81747087		1876	4115	5991	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1805G>T	12.37:g.81747087C>A	ENSP00000450337:p.Arg602Ile		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R602I	ENST00000549396.1	37	c.1805	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104874	0.56291	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.44	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	M	0.61703	1.905	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.69907	-0.5018	10	0.72032	D	0.01	-10.5108	16.3026	0.82830	0.0:0.8675:0.1325:0.0	.	602	O75334	LIPA2_HUMAN	I	602;584;169;528;613;584;602;503;602;183	ENSP00000450337:R602I;ENSP00000450298:R584I;ENSP00000438337:R169I;ENSP00000385093:R528I;ENSP00000327416:R584I;ENSP00000449338:R602I;ENSP00000388373:R503I;ENSP00000447868:R602I;ENSP00000448941:R183I	ENSP00000327416:R584I	R	-	2	0	PPFIA2	80271218	1.000000	0.71417	0.989000	0.46669	0.966000	0.64601	7.807000	0.86032	1.269000	0.44280	0.585000	0.79938	AGA	PPFIA2	-	NULL		0.353	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	C			81747087	-1	no_errors	ENST00000549396	ensembl	human	known	70_37	missense	SNP	1.000	A
PPIL3	53938	genome.wustl.edu	37	2	201750451	201750451	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:201750451G>T	ENST00000392283.4	-	3	316	c.48C>A	c.(46-48)gtC>gtA	p.V16V	PPIL3_ENST00000465823.1_5'UTR|PPIL3_ENST00000409449.1_Silent_p.V16V|PPIL3_ENST00000409361.1_Silent_p.V16V|PPIL3_ENST00000286175.8_Silent_p.V16V	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3	16	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|lung(2)	3						TCTCACAGAAGACTTCAATTT	0.318																																																	0													147.0	137.0	140.0					2																	201750451		2203	4299	6502	SO:0001819	synonymous_variant	53938			AF251049	CCDS2332.1, CCDS2333.1	2q33.1	2008-02-05			ENSG00000240344	ENSG00000240344			9262	protein-coding gene	gene with protein product	"""Cyclophilin J"""	615811				11435694	Standard	NM_032472		Approved	CyPJ	uc002uwi.3	Q9H2H8	OTTHUMG00000132782	ENST00000392283.4:c.48C>A	2.37:g.201750451G>T			Q86WF9|Q96IA9|Q9BXZ1	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.V16	ENST00000392283.4	37	c.48	CCDS2333.1	2																																																																																			PPIL3	-	superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom		0.318	PPIL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL3	HGNC	protein_coding	OTTHUMT00000256190.3	G			201750451	-1	no_errors	ENST00000286175	ensembl	human	known	70_37	silent	SNP	0.996	T
PPP1R12B	4660	genome.wustl.edu	37	1	202471087	202471087	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:202471087G>T	ENST00000608999.1	+	18	2643				PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000391959.3_Intron|PPP1R12B_ENST00000367270.4_Intron|PPP1R12B_ENST00000290419.5_Intron	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGAGTATCAAGATTCAGTGGG	0.418																																																	0																																										SO:0001627	intron_variant	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2490+5137G>T	1.37:g.202471087G>T			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	RNA	SNP	-	NULL	ENST00000608999.1	37	NULL	CCDS1426.1	1																																																																																			PPP1R12B	-	-		0.418	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	G	NM_032105		202471087	+1	no_errors	ENST00000466273	ensembl	human	known	70_37	rna	SNP	0.002	T
PPP1R3A	5506	genome.wustl.edu	37	7	113518224	113518224	+	Nonsense_Mutation	SNP	C	C	A	rs369050094		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:113518224C>A	ENST00000284601.3	-	4	2991	c.2923G>T	c.(2923-2925)Gaa>Taa	p.E975*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	975					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGGAAACTTCTTCAGGTTTA	0.378																																																	0													90.0	90.0	90.0					7																	113518224		2202	4297	6499	SO:0001587	stop_gained	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2923G>T	7.37:g.113518224C>A	ENSP00000284601:p.Glu975*		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.E975*	ENST00000284601.3	37	c.2923	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237291	0.79800	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.71	5.71	0.89125	.	0.547984	0.17752	N	0.163202	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-1.4035	14.0553	0.64764	0.0:0.9281:0.0:0.0719	.	.	.	.	X	975	.	ENSP00000284601:E975X	E	-	1	0	PPP1R3A	113305460	0.437000	0.25593	0.524000	0.27887	0.134000	0.20937	2.577000	0.46042	2.680000	0.91292	0.650000	0.86243	GAA	PPP1R3A	-	NULL		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	C	NM_002711		113518224	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	nonsense	SNP	0.250	A
PPP2R2A	5520	genome.wustl.edu	37	8	26217696	26217696	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:26217696A>C	ENST00000380737.3	+	5	687	c.358A>C	c.(358-360)Aaa>Caa	p.K120Q	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K130Q	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	120					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAAAACAATAAAATTATGGAA	0.318																																																	0													63.0	67.0	66.0					8																	26217696		2203	4299	6502	SO:0001583	missense	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.358A>C	8.37:g.26217696A>C	ENSP00000370113:p.Lys120Gln		B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.K120Q	ENST00000380737.3	37	c.358	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	A	29.4	5.003690	0.93287	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.30981	1.51;1.51	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.65903	0.2736	H	0.94925	3.6	0.80722	D	1	D;D	0.65815	0.995;0.993	D;D	0.68943	0.961;0.936	T	0.77148	-0.2694	10	0.87932	D	0	-3.1456	15.3529	0.74402	1.0:0.0:0.0:0.0	.	130;120	B4E1T7;P63151	.;2ABA_HUMAN	Q	120;130	ENSP00000370113:K120Q;ENSP00000325074:K130Q	ENSP00000325074:K130Q	K	+	1	0	PPP2R2A	26273613	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.109000	0.94291	2.095000	0.63458	0.477000	0.44152	AAA	PPP2R2A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55		0.318	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	HGNC	protein_coding	OTTHUMT00000375954.2	A	NM_002717		26217696	+1	no_errors	ENST00000380737	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP2R2B	5521	genome.wustl.edu	37	5	145969747	145969747	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:145969747G>A	ENST00000394413.3	-	9	1665	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	PPP2R2B_ENST00000394411.4_Silent_p.F365F|PPP2R2B_ENST00000336640.6_Silent_p.F368F|PPP2R2B_ENST00000508545.2_Silent_p.F354F|PPP2R2B_ENST00000356826.3_Silent_p.F365F|PPP2R2B_ENST00000394410.2_Silent_p.F354F|PPP2R2B_ENST00000394409.3_Silent_p.F423F|PPP2R2B_ENST00000504198.1_Silent_p.F371F|PPP2R2B_ENST00000530902.1_5'UTR|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394414.1_Silent_p.F431F|PPP2R2B_ENST00000453001.1_Silent_p.F365F			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	365					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTTCTGTCGAACATCCTGA	0.502																																																	0													73.0	66.0	68.0					5																	145969747		2203	4300	6503	SO:0001819	synonymous_variant	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1095C>T	5.37:g.145969747G>A			A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.F431	ENST00000394413.3	37	c.1293	CCDS4284.1	5																																																																																			PPP2R2B	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55		0.502	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	HGNC	protein_coding	OTTHUMT00000251893.2	G	NM_181678		145969747	-1	no_errors	ENST00000394414	ensembl	human	known	70_37	silent	SNP	0.995	A
PPP2R5A	5525	genome.wustl.edu	37	1	212502486	212502486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:212502486C>A	ENST00000261461.2	+	2	765	c.191C>A	c.(190-192)tCa>tAa	p.S64*	PPP2R5A_ENST00000498129.2_3'UTR|RP11-384C4.7_ENST00000442146.1_RNA|PPP2R5A_ENST00000537030.3_Nonsense_Mutation_p.S7*	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	64					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GATGCCACTTCAAATGAACAA	0.289																																																	0													60.0	60.0	60.0					1																	212502486		2203	4299	6502	SO:0001587	stop_gained	5525			BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.191C>A	1.37:g.212502486C>A	ENSP00000261461:p.Ser64*		B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Nonsense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.S64*	ENST00000261461.2	37	c.191	CCDS1503.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.053350	0.98629	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.08	5.08	0.68730	.	0.057915	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-7.3316	13.7924	0.63150	0.0:0.9235:0.0:0.0765	.	.	.	.	X	64;64;7	.	ENSP00000261461:S64X	S	+	2	0	PPP2R5A	210569109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.880000	0.69698	2.382000	0.81193	0.650000	0.86243	TCA	PPP2R5A	-	pfam_PP2A_B56,pirsf_PP2A_B56		0.289	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5A	HGNC	protein_coding	OTTHUMT00000089302.1	C	NM_006243		212502486	+1	no_errors	ENST00000261461	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PPP3CA	5530	genome.wustl.edu	37	4	102004359	102004359	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:102004359C>T	ENST00000394854.3	-	7	1527	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000323055.6_Missense_Mutation_p.E282K|PPP3CA_ENST00000523694.2_Missense_Mutation_p.E215K|PPP3CA_ENST00000394853.4_Missense_Mutation_p.E282K|PPP3CA_ENST00000507176.1_Missense_Mutation_p.E184K	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	282	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TCTTGGGCTTCGTGGGCTCGG	0.443																																																	0													276.0	289.0	285.0					4																	102004359		2203	4300	6503	SO:0001583	missense	5530				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.844G>A	4.37:g.102004359C>T	ENSP00000378323:p.Glu282Lys		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.E282K	ENST00000394854.3	37	c.844	CCDS34037.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.512400	0.96402	.	.	ENSG00000138814	ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28	5.32	5.32	0.75619	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.059202	0.64402	D	0.000003	T	0.44286	0.1286	H	0.98612	4.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.986;0.986;0.995;0.985;0.985	T	0.67952	-0.5537	10	0.87932	D	0	-7.76	19.0217	0.92917	0.0:1.0:0.0:0.0	.	282;282;282;184;215	Q08209;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.	K	282;282;282;184;215	ENSP00000378323:E282K;ENSP00000320580:E282K;ENSP00000378322:E282K;ENSP00000422990:E184K;ENSP00000429350:E215K	ENSP00000320580:E282K	E	-	1	0	PPP3CA	102223382	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.297000	0.78799	2.480000	0.83734	0.655000	0.94253	GAA	PPP3CA	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.443	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPP3CA	HGNC	protein_coding	OTTHUMT00000258379.2	C	NM_000944		102004359	-1	no_errors	ENST00000394854	ensembl	human	known	70_37	missense	SNP	1.000	T
PPP5C	5536	genome.wustl.edu	37	19	46850429	46850429	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:46850429A>G	ENST00000012443.4	+	1	179	c.76A>G	c.(76-78)Aag>Gag	p.K26E	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	26					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGGAGCTCTGAAGCGGGCAGA	0.682											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													24.0	22.0	23.0					19																	46850429		2197	4299	6496	SO:0001583	missense	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.76A>G	19.37:g.46850429A>G	ENSP00000012443:p.Lys26Glu	942	Q16722|Q53XV2	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.K26E	ENST00000012443.4	37	c.76	CCDS12684.1	19	.	.	.	.	.	.	.	.	.	.	A	5.540	0.284544	0.10513	.	.	ENSG00000011485	ENST00000012443;ENST00000451918	T	0.28895	1.59	3.19	3.19	0.36642	Tetratricopeptide-like helical (1);	0.269400	0.27941	U	0.017239	T	0.10809	0.0264	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17228	-1.0376	10	0.02654	T	1	-17.3643	9.7295	0.40352	1.0:0.0:0.0:0.0	.	26;26	B2R6R6;P53041	.;PPP5_HUMAN	E	26	ENSP00000012443:K26E	ENSP00000012443:K26E	K	+	1	0	PPP5C	51542269	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.230000	0.42999	1.456000	0.47831	0.379000	0.24179	AAG	PPP5C	-	pirsf_Ser/Thr_PPase_5		0.682	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2	A	NM_006247		46850429	+1	no_errors	ENST00000012443	ensembl	human	known	70_37	missense	SNP	1.000	G
PQLC3	130814	genome.wustl.edu	37	2	11312118	11312118	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:11312118A>C	ENST00000295083.3	+	5	597	c.422A>C	c.(421-423)gAc>gCc	p.D141A	PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.D141A|PQLC3_ENST00000402361.1_Intron	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	141						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		AAGACGAGAGACTCAGGAACT	0.498																																																	0													110.0	104.0	106.0					2																	11312118		2203	4300	6503	SO:0001583	missense	130814			BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.422A>C	2.37:g.11312118A>C	ENSP00000295083:p.Asp141Ala		B2R8K1|B4DWA4	Missense_Mutation	SNP	pirsf_MannP-dilichol_defect-1	p.D141A	ENST00000295083.3	37	c.422	CCDS1679.1	2	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496562	0.85069	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908	D;T;D	0.86297	-2.08;-0.44;-2.1	5.95	5.95	0.96441	.	0.048486	0.85682	D	0.000000	D	0.93080	0.7797	M	0.82517	2.595	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.65684	0.82;0.937	D	0.93031	0.6448	10	0.45353	T	0.12	-11.7023	14.6535	0.68814	1.0:0.0:0.0:0.0	.	141;141	B4DWA4;Q8N755	.;PQLC3_HUMAN	A	164;141;141	ENSP00000410430:D164A;ENSP00000295083:D141A;ENSP00000406148:D141A	ENSP00000295083:D141A	D	+	2	0	PQLC3	11229569	1.000000	0.71417	0.975000	0.42487	0.711000	0.40976	7.330000	0.79181	2.279000	0.76181	0.533000	0.62120	GAC	PQLC3	-	pirsf_MannP-dilichol_defect-1		0.498	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PQLC3	HGNC	protein_coding	OTTHUMT00000239266.4	A	NM_152391		11312118	+1	no_errors	ENST00000295083	ensembl	human	known	70_37	missense	SNP	1.000	C
PRB3	5544	genome.wustl.edu	37	12	11420539	11420539	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:11420539G>A	ENST00000279573.7	-	3	779	c.644C>T	c.(643-645)tCc>tTc	p.S215F	PRB3_ENST00000538488.1_Missense_Mutation_p.S194F|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	215	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACCTTGGGACTGGTTTCC	0.617																																																	0													85.0	90.0	88.0					12																	11420539		1480	3363	4843	SO:0001583	missense	5544					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.644C>T	12.37:g.11420539G>A	ENSP00000279573:p.Ser215Phe		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.S194F	ENST00000279573.7	37	c.581		12	.	.	.	.	.	.	.	.	.	.	.	4.540	0.100267	0.08731	.	.	ENSG00000197870	ENST00000538488	T	0.04706	3.57	1.25	-2.5	0.06384	.	.	.	.	.	T	0.02418	0.0074	.	.	.	0.09310	N	1	P	0.39809	0.689	B	0.27887	0.084	T	0.31024	-0.9958	8	0.66056	D	0.02	.	0.7161	0.00932	0.1848:0.171:0.3577:0.2865	.	215	Q04118	PRB3_HUMAN	F	194	ENSP00000442626:S194F	ENSP00000279573:S215F	S	-	2	0	PRB3	11311806	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.020000	0.12525	-1.492000	0.01838	0.194000	0.17425	TCC	PRB3	-	NULL		0.617	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	G	NM_006249		11420539	-1	no_errors	ENST00000538488	ensembl	human	known	70_37	missense	SNP	0.000	A
PRB3	5544	genome.wustl.edu	37	12	11420602	11420602	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:11420602G>A	ENST00000279573.7	-	3	716	c.581C>T	c.(580-582)tCc>tTc	p.S194F	PRB3_ENST00000538488.1_Missense_Mutation_p.S173F|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.S194F			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	194	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACCTTGGGACTGGTTTCC	0.627																																																	0													92.0	123.0	114.0					12																	11420602		1681	3739	5420	SO:0001583	missense	5544					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.581C>T	12.37:g.11420602G>A	ENSP00000279573:p.Ser194Phe		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.S194F	ENST00000279573.7	37	c.581		12	.	.	.	.	.	.	.	.	.	.	.	4.963	0.178945	0.09443	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.04970	3.52;3.53	0.708	-1.42	0.08913	.	1.901040	0.04092	U	0.311486	T	0.04907	0.0132	.	.	.	0.09310	N	1	B	0.20052	0.041	B	0.11329	0.006	T	0.40979	-0.9534	9	0.59425	D	0.04	.	1.956	0.03376	0.4371:0.0:0.3014:0.2616	.	194	Q04118	PRB3_HUMAN	F	194;173	ENSP00000371264:S194F;ENSP00000442626:S173F	ENSP00000279573:S194F	S	-	2	0	PRB3	11311869	0.001000	0.12720	0.000000	0.03702	0.060000	0.15804	0.283000	0.18846	-1.022000	0.03346	0.134000	0.15878	TCC	PRB3	-	NULL		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	G	NM_006249		11420602	-1	no_errors	ENST00000381842	ensembl	human	known	70_37	missense	SNP	0.000	A
PRDM16	63976	genome.wustl.edu	37	1	3313156	3313156	+	Splice_Site	SNP	C	C	T	rs535076398		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:3313156C>T	ENST00000270722.5	+	5	724	c.675C>T	c.(673-675)gaC>gaT	p.D225D	PRDM16_ENST00000378391.2_Splice_Site_p.D225D|PRDM16_ENST00000378398.3_Splice_Site_p.D226D|PRDM16_ENST00000441472.2_Splice_Site_p.D225D|PRDM16_ENST00000511072.1_Splice_Site_p.D226D|PRDM16_ENST00000442529.2_Splice_Site_p.D225D|PRDM16_ENST00000514189.1_Splice_Site_p.D226D|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	225					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.D225D(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCGGCCTGGACGGTAAGACCC	0.642			T	EVI1	"""MDS, AML"""								C|||	1	0.000199681	0.0	0.0014	5008	,	,		14665	0.0		0.0	False		,,,				2504	0.0							Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	1	Substitution - coding silent(1)	large_intestine(1)											30.0	34.0	33.0					1																	3313156		1976	4149	6125	SO:0001630	splice_region_variant	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.676+1C>T	1.37:g.3313156C>T			A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D225	ENST00000270722.5	37	c.675	CCDS41236.2	1																																																																																			PRDM16	-	NULL		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	C	NM_022114	Silent	3313156	+1	no_errors	ENST00000270722	ensembl	human	known	70_37	silent	SNP	0.987	T
PRDM9	56979	genome.wustl.edu	37	5	23524514	23524514	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:23524514A>T	ENST00000296682.3	+	10	1204	c.1022A>T	c.(1021-1023)tAt>tTt	p.Y341F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	341	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						CAGATCTTCTATAGAACCTGC	0.547										HNSCC(3;0.000094)																																							0													61.0	65.0	64.0					5																	23524514		1898	4106	6004	SO:0001583	missense	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.1022A>T	5.37:g.23524514A>T	ENSP00000296682:p.Tyr341Phe		B4DX22|Q27Q50	Missense_Mutation	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.Y341F	ENST00000296682.3	37	c.1022	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529311	0.64860	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.73363	-0.74	4.23	4.23	0.50019	SET domain (2);	.	.	.	.	T	0.57021	0.2025	N	0.25094	0.71	0.34089	D	0.660522	P	0.38473	0.633	B	0.32805	0.153	T	0.67413	-0.5677	9	0.40728	T	0.16	-10.8609	10.0182	0.42027	1.0:0.0:0.0:0.0	.	341	Q9NQV7	PRDM9_HUMAN	F	341;135	ENSP00000296682:Y341F	ENSP00000253473:Y135F	Y	+	2	0	PRDM9	23560271	0.989000	0.36119	1.000000	0.80357	0.944000	0.59088	1.543000	0.36147	1.687000	0.51057	0.487000	0.48397	TAT	PRDM9	-	pfscan_SET_dom		0.547	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	A	NM_020227		23524514	+1	no_errors	ENST00000296682	ensembl	human	known	70_37	missense	SNP	1.000	T
PRDM9	56979	genome.wustl.edu	37	5	23526462	23526462	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:23526462G>T	ENST00000296682.3	+	11	1447	c.1265G>T	c.(1264-1266)aGa>aTa	p.R422I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	422					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						CCATCTGCAAGAAAACTCCTC	0.483										HNSCC(3;0.000094)																																							0													112.0	107.0	109.0					5																	23526462		2203	4300	6503	SO:0001583	missense	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.1265G>T	5.37:g.23526462G>T	ENSP00000296682:p.Arg422Ile		B4DX22|Q27Q50	Missense_Mutation	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.R422I	ENST00000296682.3	37	c.1265	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595435	0.66219	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.09350	2.99	3.37	0.259	0.15583	.	0.592602	0.14137	N	0.338943	T	0.07999	0.0200	L	0.50333	1.59	0.41309	D	0.987096	P	0.45902	0.868	B	0.37144	0.242	T	0.33979	-0.9847	10	0.52906	T	0.07	-5.7599	3.8496	0.08949	0.2414:0.0:0.5649:0.1937	.	422	Q9NQV7	PRDM9_HUMAN	I	422;216	ENSP00000296682:R422I	ENSP00000253473:R216I	R	+	2	0	PRDM9	23562219	0.001000	0.12720	0.527000	0.27925	0.261000	0.26267	0.757000	0.26433	0.146000	0.19002	0.505000	0.49811	AGA	PRDM9	-	NULL		0.483	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	G	NM_020227		23526462	+1	no_errors	ENST00000296682	ensembl	human	known	70_37	missense	SNP	0.994	T
PREB	10113	genome.wustl.edu	37	2	27355999	27355999	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:27355999C>T	ENST00000260643.2	-	3	785	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	PREB_ENST00000416802.1_5'UTR|PREB_ENST00000406567.3_Missense_Mutation_p.V178I	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	178					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGACACGGACGTAGCCATCT	0.512																																																	0													172.0	182.0	178.0					2																	27355999		2203	4300	6503	SO:0001583	missense	10113				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.532G>A	2.37:g.27355999C>T	ENSP00000260643:p.Val178Ile		Q53SZ8|Q9UH94	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V178I	ENST00000260643.2	37	c.532	CCDS1738.1	2	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524710	0.27299	.	.	ENSG00000138073	ENST00000260643;ENST00000406567;ENST00000546336	T;T	0.57107	0.42;0.42	5.63	1.86	0.25419	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.313409	0.33691	N	0.004646	T	0.32010	0.0815	N	0.21240	0.645	0.35632	D	0.810283	B;B	0.18310	0.027;0.019	B;B	0.17979	0.016;0.02	T	0.12785	-1.0534	10	0.33940	T	0.23	-3.5064	4.8743	0.13648	0.0:0.5272:0.146:0.3268	.	178;178	B5MC98;Q9HCU5	.;PREB_HUMAN	I	178	ENSP00000260643:V178I;ENSP00000384032:V178I	ENSP00000260643:V178I	V	-	1	0	PREB	27209503	0.021000	0.18746	0.040000	0.18447	0.943000	0.58893	0.022000	0.13511	0.066000	0.16515	0.561000	0.74099	GTC	PREB	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.512	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREB	HGNC	protein_coding	OTTHUMT00000214195.1	C	NM_013388		27355999	-1	no_errors	ENST00000260643	ensembl	human	known	70_37	missense	SNP	0.260	T
PREP	5550	genome.wustl.edu	37	6	105736680	105736680	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:105736680G>T	ENST00000369110.3	-	11	1599	c.1407C>A	c.(1405-1407)ttC>ttA	p.F469L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	469					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGCCATATAAGAAAGCTGGAT	0.408																																																	0													111.0	110.0	110.0					6																	105736680		2203	4300	6503	SO:0001583	missense	5550				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1407C>A	6.37:g.105736680G>T	ENSP00000358106:p.Phe469Leu		Q8N6D4	Missense_Mutation	SNP	pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.F469L	ENST00000369110.3	37	c.1407	CCDS5053.1	6	.	.	.	.	.	.	.	.	.	.	G	7.153	0.584208	0.13749	.	.	ENSG00000085377	ENST00000369110	T	0.20598	2.06	5.74	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.01124	0.0037	N	0.00140	-2.01	0.58432	D	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.47222	-0.9134	10	0.02654	T	1	-26.5211	10.6394	0.45584	0.1455:0.0:0.8545:0.0	.	469	P48147	PPCE_HUMAN	L	469	ENSP00000358106:F469L	ENSP00000358106:F469L	F	-	3	2	PREP	105843373	1.000000	0.71417	0.990000	0.47175	0.944000	0.59088	3.928000	0.56506	1.414000	0.47017	0.555000	0.69702	TTC	PREP	-	prints_Peptidase_S9A		0.408	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	HGNC	protein_coding	OTTHUMT00000041658.1	G			105736680	-1	no_errors	ENST00000369110	ensembl	human	known	70_37	missense	SNP	1.000	T
PREX1	57580	genome.wustl.edu	37	20	47444178	47444178	+	Splice_Site	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:47444178C>T	ENST00000371941.3	-	1	242		c.e1+1		PREX1_ENST00000396220.1_Splice_Site	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1						actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCGACACTCACCGACTGCAAG	0.677																																																	0													12.0	15.0	14.0					20																	47444178		2189	4288	6477	SO:0001630	splice_region_variant	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.219+1G>A	20.37:g.47444178C>T			E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Splice_Site	SNP	-	e1+1	ENST00000371941.3	37	c.219+1	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064201	0.36373	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6761	0.68981	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREX1	46877585	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	5.070000	0.64376	1.781000	0.52344	0.205000	0.17691	.	PREX1	-	-		0.677	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	C	NM_020820	Intron	47444178	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	splice_site	SNP	1.000	T
PRIM2	5558	genome.wustl.edu	37	6	57393103	57393103	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:57393103T>G	ENST00000389488.2	+	9	848				PRIM2_ENST00000607273.1_Intron			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		tttttttctttttttaaaGTC	0.269																																																	0													40.0	36.0	37.0					6																	57393103		1771	4039	5810	SO:0001627	intron_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.849-9T>G	6.37:g.57393103T>G			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-		0.269	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	T	NM_000947		57393103	+1	no_errors	ENST00000550475	ensembl	human	known	70_37	rna	SNP	0.000	G
PRKCD	5580	genome.wustl.edu	37	3	53213604	53213604	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:53213604A>C	ENST00000394729.2	+	3	455	c.127A>C	c.(127-129)Aca>Cca	p.T43P	PRKCD_ENST00000330452.3_Missense_Mutation_p.T43P	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	43	C2.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GCGTGGGAAAACACTGGTGCA	0.592																																																	0													77.0	68.0	71.0					3																	53213604		2203	4300	6503	SO:0001583	missense	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.127A>C	3.37:g.53213604A>C	ENSP00000378217:p.Thr43Pro		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T43P	ENST00000394729.2	37	c.127	CCDS2870.1	3	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431302	0.83776	.	.	ENSG00000163932	ENST00000478843;ENST00000394729;ENST00000330452;ENST00000487897;ENST00000464818	T;T;D	0.84589	-0.53;-0.53;-1.87	4.83	4.83	0.62350	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	M	0.78223	2.4	0.80722	D	1	D;D	0.65815	0.995;0.988	D;P	0.79108	0.992;0.625	D	0.92594	0.6085	10	0.72032	D	0.01	.	13.5277	0.61605	1.0:0.0:0.0:0.0	.	43;43	C9K0E3;Q05655	.;KPCD_HUMAN	P	43	ENSP00000378217:T43P;ENSP00000331602:T43P;ENSP00000419629:T43P	ENSP00000331602:T43P	T	+	1	0	PRKCD	53188644	1.000000	0.71417	0.995000	0.50966	0.686000	0.39977	9.139000	0.94554	2.030000	0.59900	0.459000	0.35465	ACA	PRKCD	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Prot_kin_PKC_delta		0.592	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1	A			53213604	+1	no_errors	ENST00000330452	ensembl	human	known	70_37	missense	SNP	1.000	C
PRKD1	5587	genome.wustl.edu	37	14	30066829	30066829	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:30066829A>C	ENST00000331968.5	-	16	2531	c.2302T>G	c.(2302-2304)Tct>Gct	p.S768A	PRKD1_ENST00000415220.2_Missense_Mutation_p.S776A	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACCCCAACAGACCACATGTCT	0.488																																																	0													155.0	144.0	148.0					14																	30066829		2203	4300	6503	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2302T>G	14.37:g.30066829A>C	ENSP00000333568:p.Ser768Ala		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.S768A	ENST00000331968.5	37	c.2302	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	A	24.2	4.502982	0.85176	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.88664	-2.41;-2.41	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	L	0.53561	1.675	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.92895	0.6334	10	0.52906	T	0.07	-18.8203	16.1219	0.81365	1.0:0.0:0.0:0.0	.	768	Q15139	KPCD1_HUMAN	A	768;776	ENSP00000333568:S768A;ENSP00000390535:S776A	ENSP00000333568:S768A	S	-	1	0	PRKD1	29136580	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.448000	0.80631	2.254000	0.74563	0.528000	0.53228	TCT	PRKD1	-	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		0.488	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	A	NM_002742		30066829	-1	no_errors	ENST00000331968	ensembl	human	known	70_37	missense	SNP	1.000	C
PRKG2	5593	genome.wustl.edu	37	4	82056359	82056359	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:82056359C>A	ENST00000395578.1	-	14	1842	c.1726G>T	c.(1726-1728)Gac>Tac	p.D576Y	PRKG2_ENST00000418486.2_Missense_Mutation_p.D547Y|PRKG2_ENST00000545647.1_Missense_Mutation_p.D156Y|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.D576Y			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	576	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GGTTTCAAGTCTCTGTAGATA	0.413																																																	0													135.0	131.0	132.0					4																	82056359		2203	4300	6503	SO:0001583	missense	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1726G>T	4.37:g.82056359C>A	ENSP00000378945:p.Asp576Tyr		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.D576Y	ENST00000395578.1	37	c.1726	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656811	0.67586	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	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	D	0.98321	0.9443	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99285	1.0897	10	0.87932	D	0	-32.6741	19.5855	0.95488	0.0:1.0:0.0:0.0	.	547;576	E7EPE6;Q13237	.;KGP2_HUMAN	Y	576;576;547;156	ENSP00000378945:D576Y;ENSP00000264399:D576Y;ENSP00000389038:D547Y;ENSP00000439967:D156Y	ENSP00000264399:D576Y	D	-	1	0	PRKG2	82275383	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	7.764000	0.85297	2.720000	0.93068	0.650000	0.86243	GAC	PRKG2	-	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,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom		0.413	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	C	NM_006259		82056359	-1	no_errors	ENST00000264399	ensembl	human	known	70_37	missense	SNP	1.000	A
PRLHR	2834	genome.wustl.edu	37	10	120354249	120354249	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:120354249G>A	ENST00000369169.1	-	1	507	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	PRLHR_ENST00000239032.2_Missense_Mutation_p.R170C			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	170					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGCGAGATGCGCCGCCTCAGC	0.677																																																	0													24.0	26.0	25.0					10																	120354249		2199	4296	6495	SO:0001583	missense	2834			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.508C>T	10.37:g.120354249G>A	ENSP00000358167:p.Arg170Cys		O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R170C	ENST00000369169.1	37	c.508	CCDS7606.1	10	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026783	0.75390	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.39787	1.06;1.06	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74427	0.3715	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82768	-0.0294	10	0.87932	D	0	.	13.9391	0.64043	0.0:0.0:0.8384:0.1616	.	170	P49683	PRLHR_HUMAN	C	170	ENSP00000239032:R170C;ENSP00000358167:R170C	ENSP00000239032:R170C	R	-	1	0	PRLHR	120344239	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.012000	0.64017	2.472000	0.83506	0.655000	0.94253	CGC	PRLHR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.677	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLHR	HGNC	protein_coding	OTTHUMT00000050610.1	G	NM_004248		120354249	-1	no_errors	ENST00000239032	ensembl	human	known	70_37	missense	SNP	1.000	A
PRMT9	90826	genome.wustl.edu	37	4	148563981	148563981	+	Missense_Mutation	SNP	C	C	T	rs143676403		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:148563981C>T	ENST00000322396.6	-	10	2398	c.2156G>A	c.(2155-2157)cGt>cAt	p.R719H	PRMT10_ENST00000541232.1_Missense_Mutation_p.R606H|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		719	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TCCAAGAGTACGTTCTGTTCC	0.433																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	134.0	131.0	132.0		2156	3.1	0.1	4	dbSNP_134	132	0,8600		0,0,4300	no	missense	PRMT10	NM_138364.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	719/846	148563981	1,13005	2203	4300	6503	SO:0001583	missense	90826																														ENST00000322396.6:c.2156G>A	4.37:g.148563981C>T	ENSP00000314396:p.Arg719His		A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R719H	ENST00000322396.6	37	c.2156	CCDS3771.1	4	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173551	0.38413	2.27E-4	0.0	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.21543	2.0;2.0	5.85	3.1	0.35709	.	0.281146	0.40728	N	0.001029	T	0.06826	0.0174	N	0.02011	-0.69	0.21445	N	0.99968	B	0.06786	0.001	B	0.04013	0.001	T	0.29761	-1.0001	10	0.28530	T	0.3	-13.9264	5.8715	0.18807	0.0:0.4323:0.289:0.2787	.	719	Q6P2P2	ANM10_HUMAN	H	719;606	ENSP00000314396:R719H;ENSP00000439508:R606H	ENSP00000314396:R719H	R	-	2	0	PRMT10	148783431	1.000000	0.71417	0.064000	0.19789	0.997000	0.91878	3.945000	0.56637	0.796000	0.33947	0.655000	0.94253	CGT	PRMT10	-	NULL		0.433	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1	C			148563981	-1	no_errors	ENST00000322396	ensembl	human	known	70_37	missense	SNP	0.651	T
PROKR2	128674	genome.wustl.edu	37	20	5294961	5294961	+	Missense_Mutation	SNP	C	C	A	rs146062524		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:5294961C>A	ENST00000217270.3	-	1	54	c.55G>T	c.(55-57)Gac>Tac	p.D19Y	PROKR2_ENST00000546004.1_Missense_Mutation_p.D19Y	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	19					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAGGCATGGTCTTGGGGTGGA	0.517										HNSCC(71;0.22)																																							0													102.0	91.0	95.0					20																	5294961		2203	4300	6503	SO:0001583	missense	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.55G>T	20.37:g.5294961C>A	ENSP00000217270:p.Asp19Tyr		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.D19Y	ENST00000217270.3	37	c.55	CCDS13089.1	20	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440556	0.25900	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.71934	-0.61;-0.61	4.6	3.66	0.41972	.	0.279202	0.33496	N	0.004846	T	0.57592	0.2064	L	0.54323	1.7	0.35161	D	0.770658	B	0.02656	0.0	B	0.04013	0.001	T	0.53947	-0.8366	10	0.02654	T	1	.	8.9515	0.35792	0.0:0.8953:0.0:0.1047	.	19	Q8NFJ6	PKR2_HUMAN	Y	19	ENSP00000440790:D19Y;ENSP00000217270:D19Y	ENSP00000217270:D19Y	D	-	1	0	PROKR2	5242961	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	1.779000	0.38624	1.064000	0.40671	0.655000	0.94253	GAC	PROKR2	-	NULL		0.517	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1	C	NM_144773		5294961	-1	no_errors	ENST00000217270	ensembl	human	known	70_37	missense	SNP	0.995	A
PROX2	283571	genome.wustl.edu	37	14	75323691	75323691	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:75323691C>T	ENST00000445876.1	-	4	1420	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	PROX2_ENST00000556084.2_Missense_Mutation_p.R247H|RP11-316E14.6_ENST00000553381.1_RNA|PROX2_ENST00000556489.2_Missense_Mutation_p.R474H			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	474			R -> H (found in a patient with mental retardation, seizures, mild hypotonia and no speech). {ECO:0000269|PubMed:23033978}.		multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGTAATGCAGCGGTTGAACTG	0.448																																																	0													136.0	133.0	134.0					14																	75323691		1944	4160	6104	SO:0001583	missense	283571				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1421G>A	14.37:g.75323691C>T	ENSP00000405932:p.Arg474His		C9J5W1|Q8N9Q3	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.R474H	ENST00000445876.1	37	c.1421	CCDS45136.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.279405|5.279405	0.95489|0.95489	.|.	.|.	ENSG00000119608|ENSG00000119608	ENST00000556084|ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876	.|T;T	.|0.52057	.|0.68;0.68	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73466|0.73466	0.3590|0.3590	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.998	.|D;P	.|0.85130	.|0.997;0.877	T|T	0.76669|0.76669	-0.2874|-0.2874	5|10	.|0.87932	.|D	.|0	.|.	19.7863|19.7863	0.96440|0.96440	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|474;247	.|G3V3G0;Q3B8N5-2	.|.;.	T|H	247|474;474;247;474	.|ENSP00000451223:R474H;ENSP00000405932:R474H	.|ENSP00000374315:R474H	A|R	-|-	1|2	0|0	PROX2|PROX2	74393444|74393444	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.953000|0.953000	0.61014|0.61014	6.094000|6.094000	0.71431|0.71431	2.665000|2.665000	0.90641|0.90641	0.655000|0.655000	0.94253|0.94253	GCT|CGC	PROX2	-	pfam_Prox1,superfamily_Homeodomain-like		0.448	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROX2	HGNC	protein_coding		C			75323691	-1	no_errors	ENST00000445876	ensembl	human	known	70_37	missense	SNP	1.000	T
PRPF38A	84950	genome.wustl.edu	37	1	52870415	52870415	+	De_novo_Start_OutOfFrame	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:52870415T>G	ENST00000257181.9	+	0	180				ORC1_ENST00000371568.3_5'Flank|PRPF38A_ENST00000474048.1_3'UTR|ORC1_ENST00000371566.1_5'Flank	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						ATTGAAGGCATTCTAAAATGG	0.443											OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78.0	70.0	72.0					1																	52870415		2203	4300	6503			84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.-7T>G	1.37:g.52870415T>G		988	Q96JW1|Q9BVZ8	RNA	SNP	-	NULL	ENST00000257181.9	37	NULL	CCDS567.1	1																																																																																			PRPF38A	-	-		0.443	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	T	NM_032864		52870415	+1	no_errors	ENST00000474048	ensembl	human	known	70_37	rna	SNP	0.008	G
PRPF40B	25766	genome.wustl.edu	37	12	50025316	50025316	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:50025316C>T	ENST00000380281.1	+	2	215	c.151C>T	c.(151-153)Cca>Tca	p.P51S	PRPF40B_ENST00000261897.1_Missense_Mutation_p.P45S|PRPF40B_ENST00000548825.2_Missense_Mutation_p.P73S			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	51	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGCGCCACCACCACTCACACA	0.602																																																	0													63.0	68.0	66.0					12																	50025316		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.151C>T	12.37:g.50025316C>T	ENSP00000369634:p.Pro51Ser		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.P51S	ENST00000380281.1	37	c.151		12	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705319	0.30232	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.29655	1.6;1.65;1.56	5.41	4.52	0.55395	.	0.099035	0.41823	N	0.000816	T	0.17874	0.0429	N	0.14661	0.345	0.50313	D	0.999866	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.10450	0.002;0.005;0.002	T	0.06092	-1.0846	9	.	.	.	-3.1636	12.1898	0.54264	0.0:0.9158:0.0:0.0842	.	51;45;51	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	S	73;45;51	ENSP00000448073:P73S;ENSP00000261897:P45S;ENSP00000369634:P51S	.	P	+	1	0	PRPF40B	48311583	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.402000	0.59722	1.412000	0.46977	0.655000	0.94253	CCA	PRPF40B	-	NULL		0.602	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	C	NM_012272		50025316	+1	no_errors	ENST00000380281	ensembl	human	known	70_37	missense	SNP	1.000	T
PRPF40B	25766	genome.wustl.edu	37	12	50029253	50029253	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:50029253G>T	ENST00000380281.1	+	13	1270	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	PRPF40B_ENST00000261897.1_Missense_Mutation_p.E396D|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E424D|FMNL3_ENST00000550668.1_5'Flank			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	402					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAAGAAGGAGAAGGTAATGG	0.507																																																	0													98.0	90.0	92.0					12																	50029253		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1206G>T	12.37:g.50029253G>T	ENSP00000369634:p.Glu402Asp		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.E402D	ENST00000380281.1	37	c.1206		12	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295005	0.81025	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.29655	1.56;1.56	5.0	4.12	0.48240	FF domain (2);	0.000000	0.64402	D	0.000010	T	0.41627	0.1167	M	0.64567	1.98	0.53688	D	0.99997	P;P;P	0.49447	0.719;0.537;0.924	B;P;P	0.54270	0.443;0.542;0.747	T	0.23226	-1.0194	9	.	.	.	-23.2933	9.1422	0.36910	0.1696:0.0:0.8304:0.0	.	402;396;402	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	D	396;402	ENSP00000261897:E396D;ENSP00000369634:E402D	.	E	+	3	2	PRPF40B	48315520	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.698000	0.47068	1.493000	0.48517	-0.253000	0.11424	GAG	PRPF40B	-	superfamily_FF_domain		0.507	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	G	NM_012272		50029253	+1	no_errors	ENST00000380281	ensembl	human	known	70_37	missense	SNP	1.000	T
PRRG2	5639	genome.wustl.edu	37	19	50086923	50086923	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:50086923G>T	ENST00000246794.5	+	3	379	c.210G>T	c.(208-210)gaG>gaT	p.E70D	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	70	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GTCTGGAAGAGAGGTGTTCCT	0.577																																																	0													94.0	98.0	97.0					19																	50086923		2203	4300	6503	SO:0001583	missense	5639				CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"""			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.210G>T	19.37:g.50086923G>T	ENSP00000246794:p.Glu70Asp		Q6IBF8	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.E70D	ENST00000246794.5	37	c.210	CCDS12773.1	19	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282194	0.59867	.	.	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.99981	-10.35	5.87	1.47	0.22746	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	H	0.94306	3.52	0.23981	N	0.996273	D;D	0.76494	0.998;0.999	D;D	0.80764	0.99;0.994	D	0.97309	0.9936	10	0.87932	D	0	-21.7141	7.4807	0.27404	0.3216:0.0:0.6784:0.0	.	47;70	F5GZ13;O14669	.;TMG2_HUMAN	D	70;47	ENSP00000246794:E70D	ENSP00000246794:E70D	E	+	3	2	PRRG2	54778735	0.291000	0.24352	0.717000	0.30585	0.494000	0.33585	0.496000	0.22499	0.854000	0.35336	0.650000	0.86243	GAG	PRRG2	-	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain		0.577	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG2	HGNC	protein_coding	OTTHUMT00000465257.1	G	NM_000951		50086923	+1	no_errors	ENST00000246794	ensembl	human	known	70_37	missense	SNP	0.398	T
PRSS38	339501	genome.wustl.edu	37	1	228003518	228003518	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:228003518T>C	ENST00000366757.3	+	1	125	c.101T>C	c.(100-102)gTc>gCc	p.V34A		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	34						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCAGCATTGGTCCACAGACAG	0.692																																																	0													29.0	31.0	31.0					1																	228003518		2203	4300	6503	SO:0001583	missense	339501				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.101T>C	1.37:g.228003518T>C	ENSP00000355719:p.Val34Ala		Q7RTY6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.V34A	ENST00000366757.3	37	c.101	CCDS1563.1	1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.527922	0.00959	.	.	ENSG00000185888	ENST00000366757	D	0.88124	-2.34	2.46	-4.75	0.03239	.	1.834660	0.03346	N	0.195473	T	0.60534	0.2276	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63739	-0.6569	10	0.02654	T	1	.	0.9496	0.01373	0.1879:0.3915:0.2039:0.2168	.	34	A1L453	PRS38_HUMAN	A	34	ENSP00000355719:V34A	ENSP00000355719:V34A	V	+	2	0	PRSS38	226070141	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.344000	0.07780	-0.978000	0.03533	-0.476000	0.04901	GTC	PRSS38	-	NULL		0.692	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS38	HGNC	protein_coding	OTTHUMT00000091981.1	T	NM_183062		228003518	+1	no_errors	ENST00000366757	ensembl	human	known	70_37	missense	SNP	0.000	C
PRTFDC1	56952	genome.wustl.edu	37	10	25140370	25140370	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:25140370A>C	ENST00000320152.6	-	8	605	c.577T>G	c.(577-579)Tta>Gta	p.L193V	PRTFDC1_ENST00000376378.1_Intron	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	193					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						ACCACAAATAAGTTTGGAATC	0.343																																																	0													85.0	86.0	85.0					10																	25140370		2203	4300	6503	SO:0001583	missense	56952			AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.577T>G	10.37:g.25140370A>C	ENSP00000318602:p.Leu193Val		B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans	p.L193V	ENST00000320152.6	37	c.577	CCDS7145.1	10	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108568	0.37242	.	.	ENSG00000099256	ENST00000320152	D	0.98747	-5.11	5.44	2.83	0.33086	.	0.296299	0.30538	N	0.009410	D	0.94706	0.8292	N	0.17631	0.505	0.58432	D	0.999991	B	0.02656	0.0	B	0.01281	0.0	D	0.90420	0.4416	10	0.38643	T	0.18	.	7.5551	0.27819	0.5149:0.3575:0.0:0.1276	.	193	Q9NRG1	PRDC1_HUMAN	V	193	ENSP00000318602:L193V	ENSP00000318602:L193V	L	-	1	2	PRTFDC1	25180376	0.000000	0.05858	0.986000	0.45419	0.997000	0.91878	-0.028000	0.12350	0.808000	0.34231	0.455000	0.32223	TTA	PRTFDC1	-	tigrfam_Hxn_phspho_trans		0.343	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTFDC1	HGNC	protein_coding	OTTHUMT00000047243.2	A	NM_020200		25140370	-1	no_errors	ENST00000320152	ensembl	human	known	70_37	missense	SNP	0.903	C
PRX	57716	genome.wustl.edu	37	19	40900087	40900087	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:40900087C>T	ENST00000324001.7	-	7	4442	c.4172G>A	c.(4171-4173)cGg>cAg	p.R1391Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1391					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCCTGCCCCCGAGAGGCTTT	0.701																																																	0													40.0	49.0	46.0					19																	40900087		2203	4300	6503	SO:0001583	missense	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4172G>A	19.37:g.40900087C>T	ENSP00000326018:p.Arg1391Gln		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1391Q	ENST00000324001.7	37	c.4172	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	C	8.838	0.941473	0.18281	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02050	4.48	4.56	-1.8	0.07907	.	0.329676	0.21879	N	0.067773	T	0.01661	0.0053	L	0.36672	1.1	0.09310	N	1	B	0.23891	0.093	B	0.16722	0.016	T	0.43114	-0.9411	10	0.40728	T	0.16	-12.3517	3.4204	0.07392	0.1959:0.3595:0.0:0.4446	.	1391	Q9BXM0	PRAX_HUMAN	Q	1391;1326	ENSP00000326018:R1391Q	ENSP00000326018:R1391Q	R	-	2	0	PRX	45591927	0.022000	0.18835	0.166000	0.22797	0.307000	0.27823	0.084000	0.14891	-0.049000	0.13379	-0.229000	0.12294	CGG	PRX	-	NULL		0.701	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	C	NM_020956		40900087	-1	no_errors	ENST00000324001	ensembl	human	known	70_37	missense	SNP	0.003	T
PSEN1	5663	genome.wustl.edu	37	14	73659433	73659433	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:73659433G>T	ENST00000324501.5	+	7	902	c.630G>T	c.(628-630)atG>atT	p.M210I	PSEN1_ENST00000406768.1_Missense_Mutation_p.M118I|PSEN1_ENST00000357710.4_Missense_Mutation_p.M206I|PSEN1_ENST00000557511.1_Missense_Mutation_p.M210I|PSEN1_ENST00000394164.1_Missense_Mutation_p.M206I|PSEN1_ENST00000344094.3_Missense_Mutation_p.M210I|PSEN1_ENST00000261970.3_Missense_Mutation_p.M210I	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	210					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGGTGGGAATGATTTCCATTC	0.428																																																	0													178.0	165.0	169.0					14																	73659433		2203	4300	6503	SO:0001583	missense	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.630G>T	14.37:g.73659433G>T	ENSP00000326366:p.Met210Ile		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.M210I	ENST00000324501.5	37	c.630	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.189462	0.94923	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99445	-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	L	0.48986	1.54	0.80722	D	1	P;D	0.65815	0.83;0.995	P;D	0.77004	0.55;0.989	D	0.99873	1.1100	10	0.36615	T	0.2	-26.8684	19.824	0.96608	0.0:0.0:1.0:0.0	.	206;210	P49768-2;P49768	.;PSN1_HUMAN	I	210;206;210;210;206;210;118	ENSP00000326366:M210I;ENSP00000350342:M206I;ENSP00000261970:M210I;ENSP00000339523:M210I;ENSP00000377719:M206I;ENSP00000451429:M210I;ENSP00000385948:M118I	ENSP00000261970:M210I	M	+	3	0	PSEN1	72729186	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.695000	0.98691	2.699000	0.92147	0.591000	0.81541	ATG	PSEN1	-	pfam_Peptidase_A22A,smart_Peptidase_A22		0.428	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	G			73659433	+1	no_errors	ENST00000324501	ensembl	human	known	70_37	missense	SNP	1.000	T
PSMC6	5706	genome.wustl.edu	37	14	53184808	53184808	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:53184808A>C	ENST00000606149.1	+	8	555	c.539A>C	c.(538-540)aAa>aCa	p.K180T	PSMC6_ENST00000445930.2_Missense_Mutation_p.K194T	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GGTACGGGAAAAACACTCTTG	0.368																																																	0													97.0	100.0	99.0					14																	53184808		2203	4300	6503	SO:0001583	missense	5706				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.539A>C	14.37:g.53184808A>C	ENSP00000475721:p.Lys180Thr		B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.K194T	ENST00000606149.1	37	c.581		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.73|18.73	3.686626|3.686626	0.68157|0.68157	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000555339;ENST00000556813|ENST00000445930	.|D	.|0.99771	.|-6.71	4.91|4.91	4.91|4.91	0.64330|0.64330	.|ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99883|0.99883	0.9944|0.9944	H|H	0.98901|0.98901	4.365|4.365	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.96197|0.96197	0.9142|0.9142	6|10	.|0.87932	.|D	.|0	.|.	14.8417|14.8417	0.70230|0.70230	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|180;160	.|P62333;B4DR91	.|PRS10_HUMAN;.	N|T	140;179|194	.|ENSP00000401802:K194T	.|ENSP00000401802:K194T	K|K	+|+	3|2	2|0	PSMC6|PSMC6	52254558|52254558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.670000|0.670000	0.39368|0.39368	8.923000|8.923000	0.92808|0.92808	1.978000|1.978000	0.57642|0.57642	0.482000|0.482000	0.46254|0.46254	AAA|AAA	PSMC6	-	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45		0.368	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	PSMC6	HGNC	protein_coding	OTTHUMT00000470741.1	A	NM_002806		53184808	+1	no_errors	ENST00000445930	ensembl	human	known	70_37	missense	SNP	1.000	C
PSEN1	5663	genome.wustl.edu	37	14	73685914	73685914	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:73685914T>G	ENST00000324501.5	+	12	1593	c.1321T>G	c.(1321-1323)Ttt>Gtt	p.F441V	PSEN1_ENST00000406768.1_Missense_Mutation_p.F349V|PSEN1_ENST00000357710.4_Missense_Mutation_p.F437V|PSEN1_ENST00000557511.1_Missense_Mutation_p.F383V|PSEN1_ENST00000394164.1_Missense_Mutation_p.F437V|PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000261970.3_Missense_Mutation_p.F383V	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	441	Required for interaction with CTNNB1.				activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTCCATCACCTTTGGGCTTGT	0.393																																																	0													245.0	237.0	240.0					14																	73685914		2203	4300	6503	SO:0001583	missense	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.1321T>G	14.37:g.73685914T>G	ENSP00000326366:p.Phe441Val		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.F441V	ENST00000324501.5	37	c.1321	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	T	30	5.057401	0.93846	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D	0.99515	-6.03;-6.03;-6.06;-6.03;-6.06;-6.03	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	M	0.93106	3.38	0.80722	D	1	P;D	0.76494	0.949;0.999	D;D	0.91635	0.954;0.999	D	0.97791	1.0238	10	0.87932	D	0	-21.7086	16.6512	0.85203	0.0:0.0:0.0:1.0	.	437;441	P49768-2;P49768	.;PSN1_HUMAN	V	441;437;383;437;383;349	ENSP00000326366:F441V;ENSP00000350342:F437V;ENSP00000261970:F383V;ENSP00000377719:F437V;ENSP00000451429:F383V;ENSP00000385948:F349V	ENSP00000261970:F383V	F	+	1	0	PSEN1	72755667	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.959000	0.87885	2.333000	0.79357	0.482000	0.46254	TTT	PSEN1	-	pfam_Peptidase_A22A,smart_Peptidase_A22		0.393	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	T			73685914	+1	no_errors	ENST00000324501	ensembl	human	known	70_37	missense	SNP	1.000	G
PSMD10	5716	genome.wustl.edu	37	X	107330968	107330968	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:107330968G>T	ENST00000217958.3	-	4	572	c.475C>A	c.(475-477)Ctg>Atg	p.L159M	PSMD10_ENST00000372295.1_Missense_Mutation_p.L118M|PSMD10_ENST00000361815.5_Intron|PSMD10_ENST00000372296.1_Intron|PSMD10_ENST00000340200.5_Missense_Mutation_p.L126M	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	159	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell growth (GO:0030307)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTGTAGTACAGAAGGATATGA	0.463																																																	0													208.0	168.0	182.0					X																	107330968		2203	4300	6503	SO:0001583	missense	5716			AB009619	CCDS14536.1, CCDS14537.1	Xq22.3	2013-01-10			ENSG00000101843	ENSG00000101843		"""Proteasome (prosome, macropain) subunits"", ""Ankyrin repeat domain containing"""	9555	protein-coding gene	gene with protein product	"""gankyrin"""	300880				9714768	Standard	NM_002814		Approved	p28	uc004enp.2	O75832	OTTHUMG00000022177	ENST00000217958.3:c.475C>A	X.37:g.107330968G>T	ENSP00000217958:p.Leu159Met		Q5U0B2|Q8IZK9	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.L159M	ENST00000217958.3	37	c.475	CCDS14536.1	X	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502657	0.64298	.	.	ENSG00000101843	ENST00000217958;ENST00000372295;ENST00000340200	T;T;T	0.72505	-0.66;-0.66;-0.66	5.21	5.21	0.72293	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000001	D	0.84124	0.5403	M	0.88377	2.95	0.58432	D	0.999998	D;P	0.69078	0.997;0.95	D;D	0.69479	0.964;0.911	D	0.86461	0.1779	10	0.87932	D	0	-0.6418	9.5668	0.39402	0.0813:0.141:0.7776:0.0	.	118;159	B1AJY5;O75832	.;PSD10_HUMAN	M	159;118;126	ENSP00000217958:L159M;ENSP00000361369:L118M;ENSP00000345963:L126M	ENSP00000217958:L159M	L	-	1	2	PSMD10	107217624	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.575000	0.53870	2.159000	0.67721	0.513000	0.50165	CTG	PSMD10	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.463	PSMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD10	HGNC	protein_coding	OTTHUMT00000057868.1	G	NM_170750		107330968	-1	no_errors	ENST00000217958	ensembl	human	known	70_37	missense	SNP	1.000	T
PSME4	23198	genome.wustl.edu	37	2	54154547	54154547	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:54154547C>A	ENST00000404125.1	-	12	1632	c.1577G>T	c.(1576-1578)aGa>aTa	p.R526I	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	526					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAGGTCATTTCTTTCTTGTAG	0.333																																																	0													125.0	131.0	129.0					2																	54154547		2203	4300	6503	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1577G>T	2.37:g.54154547C>A	ENSP00000384211:p.Arg526Ile		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.R526I	ENST00000404125.1	37	c.1577	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139263	0.56936	.	.	ENSG00000068878	ENST00000404125	T	0.07567	3.18	5.83	4.95	0.65309	.	0.048425	0.85682	D	0.000000	T	0.07503	0.0189	L	0.39020	1.185	0.80722	D	1	B	0.31581	0.329	B	0.23574	0.047	T	0.32079	-0.9920	10	0.22109	T	0.4	-0.1138	14.7271	0.69351	0.0:0.9309:0.0:0.0691	.	526	Q14997	PSME4_HUMAN	I	526	ENSP00000384211:R526I	ENSP00000374643:R526I	R	-	2	0	PSME4	54008051	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.892000	0.56235	1.471000	0.48121	0.655000	0.94253	AGA	PSME4	-	superfamily_ARM-type_fold		0.333	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	C	XM_040158		54154547	-1	no_errors	ENST00000404125	ensembl	human	known	70_37	missense	SNP	1.000	A
PTCHD2	57540	genome.wustl.edu	37	1	11561252	11561252	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:11561252T>C	ENST00000294484.6	+	2	341	c.203T>C	c.(202-204)tTc>tCc	p.F68S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.F68S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	68					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCTGGGCCTTCACCAATCCG	0.652																																																	0													68.0	71.0	70.0					1																	11561252		2058	4182	6240	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.203T>C	1.37:g.11561252T>C	ENSP00000294484:p.Phe68Ser		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.F68S	ENST00000294484.6	37	c.203	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.229382	0.79688	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.23348	1.91;1.91	5.91	5.91	0.95273	.	0.072305	0.56097	U	0.000026	T	0.32585	0.0834	N	0.24115	0.695	0.51012	D	0.999905	D	0.64830	0.994	P	0.56278	0.795	T	0.09596	-1.0667	10	0.87932	D	0	-31.4901	15.5295	0.75942	0.0:0.0:0.0:1.0	.	68	Q9P2K9	PTHD2_HUMAN	S	68	ENSP00000294484:F68S;ENSP00000374226:F68S	ENSP00000294484:F68S	F	+	2	0	PTCHD2	11483839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.761000	0.68801	2.254000	0.74563	0.533000	0.62120	TTC	PTCHD2	-	NULL		0.652	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	T	XM_052561		11561252	+1	no_errors	ENST00000294484	ensembl	human	known	70_37	missense	SNP	1.000	C
PTCH2	8643	genome.wustl.edu	37	1	45294014	45294014	+	Missense_Mutation	SNP	G	G	A	rs369481564		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:45294014G>A	ENST00000372192.3	-	13	1793	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W	PTCH2_ENST00000447098.2_Missense_Mutation_p.R555W	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	555					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGCGCCGCCGTAGGTCCAGG	0.652									Basal Cell Nevus syndrome																																								0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	53.0	57.0	55.0		1663,1663	3.0	1.0	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTCH2	NM_001166292.1,NM_003738.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	555/1147,555/1204	45294014	1,13005	2203	4300	6503	SO:0001583	missense	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1663C>T	1.37:g.45294014G>A	ENSP00000361266:p.Arg555Trp		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.R555W	ENST00000372192.3	37	c.1663	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868051	0.72065	0.0	1.16E-4	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.96716	-4.1;-4.1	4.93	3.05	0.35203	.	0.677028	0.13452	N	0.386812	D	0.97473	0.9173	M	0.92738	3.34	0.37763	D	0.926401	P;P	0.49447	0.924;0.688	P;P	0.51135	0.66;0.579	D	0.97659	1.0159	10	0.59425	D	0.04	-33.9475	10.2511	0.43370	0.163:0.0:0.837:0.0	.	555;555	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	W	555	ENSP00000389703:R555W;ENSP00000361266:R555W	ENSP00000361266:R555W	R	-	1	2	PTCH2	45066601	1.000000	0.71417	0.961000	0.40146	0.957000	0.61999	2.118000	0.41949	1.076000	0.40961	0.313000	0.20887	CGG	PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched		0.652	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	G	NM_003738		45294014	-1	no_errors	ENST00000372192	ensembl	human	known	70_37	missense	SNP	1.000	A
PTBP2	58155	genome.wustl.edu	37	1	97279084	97279084	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:97279084T>G	ENST00000426398.2	+	0	1762				PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_3'UTR|PTBP2_ENST00000370198.1_3'UTR|PTBP2_ENST00000394184.3_3'UTR|PTBP2_ENST00000370197.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2						mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GGTTTCTTTTTTTTTTCCATG	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	58155			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.*123T>G	1.37:g.97279084T>G			Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	RNA	SNP	-	NULL	ENST00000426398.2	37	NULL	CCDS754.1	1																																																																																			PTBP2	-	-		0.338	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP2	HGNC	protein_coding	OTTHUMT00000029453.1	T			97279084	+1	no_errors	ENST00000482253	ensembl	human	known	70_37	rna	SNP	0.341	G
PTEN	5728	genome.wustl.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292|rs121909229		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	GRCh37	CM981670|CM991081	PTEN	M	rs121909229						139.0	129.0	133.0					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R130Q	ENST00000371953.3	37	c.389	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314		89692905	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	missense	SNP	1.000	A
PTEN	5728	genome.wustl.edu	37	10	89720822	89720822	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:89720822C>T	ENST00000371953.3	+	8	2330	c.973C>T	c.(973-975)Ctt>Ttt	p.L325F	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	325	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAAAATGATCTTGACAAAGC	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	51	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)											82.0	84.0	83.0					10																	89720822		2203	4299	6502	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.973C>T	10.37:g.89720822C>T	ENSP00000361021:p.Leu325Phe		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.L325F	ENST00000371953.3	37	c.973	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369088	0.82463	.	.	ENSG00000171862	ENST00000371953	D	0.92048	-2.96	5.37	4.46	0.54185	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.94447	0.8213	M	0.82823	2.61	0.58432	D	0.999998	D	0.55385	0.971	P	0.56434	0.798	D	0.94059	0.7325	9	.	.	.	-9.458	10.8688	0.46870	0.0:0.8546:0.0:0.1454	.	325	P60484	PTEN_HUMAN	F	325	ENSP00000361021:L325F	.	L	+	1	0	PTEN	89710802	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.379000	0.44318	2.516000	0.84829	0.591000	0.81541	CTT	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89720822	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	missense	SNP	1.000	T
PTENP1	11191	genome.wustl.edu	37	9	33674910	33674910	+	RNA	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:33674910T>G	ENST00000532280.1	-	0	2587					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		CAGCATAAAATTATTTCCTTT	0.398																																																	0																																												11191			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33674910T>G				RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-		0.398	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	T	NR_023917		33674910	-1	no_errors	ENST00000532280	ensembl	human	known	70_37	rna	SNP	0.701	G
PTENP1	11191	genome.wustl.edu	37	9	33676404	33676404	+	RNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:33676404A>C	ENST00000532280.1	-	0	1093					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		CAACTCTGTAATTAGATTTGG	0.363																																																	0																																												11191			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676404A>C				RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-		0.363	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	A	NR_023917		33676404	-1	no_errors	ENST00000532280	ensembl	human	known	70_37	rna	SNP	1.000	C
PTGER4	5734	genome.wustl.edu	37	5	40681118	40681118	+	Missense_Mutation	SNP	C	C	T	rs371545658		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:40681118C>T	ENST00000302472.3	+	2	1047	c.23C>T	c.(22-24)tCg>tTg	p.S8L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	8					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GGGGTCAATTCGTCCGCCTCC	0.627											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	LEU/SER	0,4406		0,0,2203	58.0	60.0	59.0		23	4.4	0.1	5		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTGER4	NM_000958.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	8/489	40681118	1,13005	2203	4300	6503	SO:0001583	missense	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.23C>T	5.37:g.40681118C>T	ENSP00000302846:p.Ser8Leu	895	Q3MJ87	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.S8L	ENST00000302472.3	37	c.23	CCDS3930.1	5	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717279	0.30413	0.0	1.16E-4	ENSG00000171522	ENST00000302472	T	0.53423	0.62	5.24	4.36	0.52297	.	0.320352	0.26582	N	0.023562	T	0.29256	0.0728	N	0.19112	0.55	0.09310	N	1	B	0.20261	0.043	B	0.09377	0.004	T	0.07908	-1.0748	10	0.36615	T	0.2	-8.582	8.2676	0.31824	0.0:0.7105:0.2014:0.0881	.	8	P35408	PE2R4_HUMAN	L	8	ENSP00000302846:S8L	ENSP00000302846:S8L	S	+	2	0	PTGER4	40716875	0.000000	0.05858	0.106000	0.21319	0.486000	0.33341	0.380000	0.20602	2.457000	0.83068	0.462000	0.41574	TCG	PTGER4	-	prints_Prost_EP4_rcpt		0.627	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	C	NM_000958		40681118	+1	no_errors	ENST00000302472	ensembl	human	known	70_37	missense	SNP	0.018	T
PTGR1	22949	genome.wustl.edu	37	9	114359674	114359674	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:114359674T>G	ENST00000407693.2	-	2	291	c.29A>C	c.(28-30)aAg>aCg	p.K10T	PTGR1_ENST00000238248.3_5'UTR|PTGR1_ENST00000538962.1_Missense_Mutation_p.K10T|PTGR1_ENST00000309195.5_Missense_Mutation_p.K10T	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	10					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						AAAGTGCTTCTTCAGGGTCCA	0.403																																					Ovarian(200;132 2151 7551 19220 46064)												0													105.0	91.0	96.0					9																	114359674		2203	4300	6503	SO:0001583	missense	22949			D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.29A>C	9.37:g.114359674T>G	ENSP00000385763:p.Lys10Thr		A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH	p.K10T	ENST00000407693.2	37	c.29	CCDS6779.1	9	.	.	.	.	.	.	.	.	.	.	T	9.037	0.988830	0.18966	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000333580;ENST00000422125;ENST00000374313;ENST00000374308	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.62	4.62	0.57501	GroES-like (1);	0.238800	0.45361	D	0.000372	T	0.44052	0.1275	M	0.65975	2.015	0.80722	D	1	B;B;B	0.22211	0.027;0.036;0.066	B;B;B	0.29176	0.099;0.059;0.022	T	0.44174	-0.9345	10	0.49607	T	0.09	-18.323	12.2191	0.54423	0.0:0.0:0.0:1.0	.	10;10;10	F5GY50;B4DPK3;Q14914	.;.;PTGR1_HUMAN	T	10	ENSP00000440281:K10T;ENSP00000311572:K10T;ENSP00000385763:K10T;ENSP00000395965:K10T	ENSP00000311572:K10T	K	-	2	0	PTGR1	113399495	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	2.579000	0.46059	2.020000	0.59435	0.374000	0.22700	AAG	PTGR1	-	superfamily_GroES-like,tigrfam_B4_12hDH		0.403	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGR1	HGNC	protein_coding	OTTHUMT00000053647.2	T			114359674	-1	no_errors	ENST00000309195	ensembl	human	known	70_37	missense	SNP	1.000	G
PTGS2	5743	genome.wustl.edu	37	1	186648219	186648219	+	Missense_Mutation	SNP	C	C	T	rs200132172		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:186648219C>T	ENST00000367468.5	-	3	420	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	95					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	AATTGCATTTCGAAGGAAGGG	0.343																																																	0													76.0	74.0	75.0					1																	186648219		2203	4300	6503	SO:0001583	missense	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.284G>A	1.37:g.186648219C>T	ENSP00000356438:p.Arg95Gln		A8K802|Q16876	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R95Q	ENST00000367468.5	37	c.284	CCDS1371.1	1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724777	0.68959	.	.	ENSG00000073756	ENST00000367468	T	0.71698	-0.59	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	M	0.73962	2.25	0.53005	D	0.999967	B	0.32188	0.359	B	0.21917	0.037	T	0.68640	-0.5355	10	0.51188	T	0.08	-8.8268	12.3538	0.55163	0.0:0.8644:0.0:0.1356	.	95	P35354	PGH2_HUMAN	Q	95	ENSP00000356438:R95Q	ENSP00000356438:R95Q	R	-	2	0	PTGS2	184914842	0.241000	0.23857	0.385000	0.26158	0.958000	0.62258	3.936000	0.56568	1.514000	0.48869	0.655000	0.94253	CGA	PTGS2	-	superfamily_Haem_peroxidase		0.343	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	C	NM_000963		186648219	-1	no_errors	ENST00000367468	ensembl	human	known	70_37	missense	SNP	0.848	T
PTK2	5747	genome.wustl.edu	37	8	141813692	141813692	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:141813692C>A	ENST00000522684.1	-	11	1154	c.925G>T	c.(925-927)Gac>Tac	p.D309Y	PTK2_ENST00000340930.3_Missense_Mutation_p.D309Y|PTK2_ENST00000519419.1_Missense_Mutation_p.D353Y|PTK2_ENST00000521059.1_Missense_Mutation_p.D309Y|PTK2_ENST00000535192.1_Missense_Mutation_p.D309Y|PTK2_ENST00000395218.2_Missense_Mutation_p.D309Y|PTK2_ENST00000517887.1_Missense_Mutation_p.D353Y	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	309	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTGTCCTTGTCTTCACTGTTT	0.378																																																	0													303.0	250.0	268.0					8																	141813692		2203	4300	6503	SO:0001583	missense	5747			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.925G>T	8.37:g.141813692C>A	ENSP00000429911:p.Asp309Tyr		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D309Y	ENST00000522684.1	37	c.925	CCDS6381.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.535701|4.535701	0.85812|0.85812	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000342207|ENST00000519654	T;T;T;T;T;T;T|.	0.11930|.	2.73;2.73;2.73;2.73;2.73;2.73;2.73|.	5.15|5.15	5.15|5.15	0.70609|0.70609	FERM domain (1);|.	0.048499|.	0.85682|.	D|.	0.000000|.	T|T	0.71178|0.71178	0.3309|0.3309	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	P;P;P;P;P;D|.	0.53619|.	0.924;0.936;0.956;0.869;0.908;0.961|.	P;P;P;P;B;P|.	0.57204|.	0.457;0.6;0.457;0.6;0.263;0.815|.	T|T	0.69034|0.69034	-0.5252|-0.5252	10|5	0.62326|.	D|.	0.03|.	.|.	18.6276|18.6276	0.91347|0.91347	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309;216;309;331;309;220|.	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6|.	.;.;FAK1_HUMAN;.;.;.|.	Y|I	309;309;353;309;219;309;216;309;353;127|319	ENSP00000429911:D309Y;ENSP00000438009:D309Y;ENSP00000429082:D353Y;ENSP00000429474:D309Y;ENSP00000378644:D309Y;ENSP00000341189:D309Y;ENSP00000429129:D353Y|.	ENSP00000341189:D309Y|.	D|R	-|-	1|2	0|0	PTK2|PTK2	141882874|141882874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.070000|7.070000	0.76763|0.76763	2.404000|2.404000	0.81709|0.81709	0.467000|0.467000	0.42956|0.42956	GAC|AGA	PTK2	-	pfscan_FERM_domain		0.378	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5	C	NM_005607		141813692	-1	no_errors	ENST00000395218	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPN1	5770	genome.wustl.edu	37	20	49191165	49191165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:49191165C>T	ENST00000371621.3	+	5	640	c.466C>T	c.(466-468)Cga>Tga	p.R156*	PTPN1_ENST00000541713.1_Nonsense_Mutation_p.R83*|RP4-530I15.9_ENST00000431019.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	156	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	ttatacagtgcgacagctaga	0.388																																																	0													116.0	114.0	115.0					20																	49191165		2203	4300	6503	SO:0001587	stop_gained	5770				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.466C>T	20.37:g.49191165C>T	ENSP00000360683:p.Arg156*		Q5TGD8|Q9BQV9|Q9NQQ4	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R156*	ENST00000371621.3	37	c.466	CCDS13430.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.094381	0.97276	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	.	.	.	5.37	5.37	0.77165	.	0.000000	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0368	0.89307	0.0:1.0:0.0:0.0	.	.	.	.	X	156;83	.	ENSP00000360683:R156X	R	+	1	2	PTPN1	48624572	0.998000	0.40836	0.923000	0.36655	0.535000	0.34838	2.093000	0.41710	2.676000	0.91093	0.561000	0.74099	CGA	PTPN1	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfscan_Tyr_Pase_rcpt/non-rcpt		0.388	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN1	HGNC	protein_coding	OTTHUMT00000079694.2	C			49191165	+1	no_errors	ENST00000371621	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PTPN13	5783	genome.wustl.edu	37	4	87731118	87731118	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:87731118T>G	ENST00000411767.2	+	46	7343	c.7280T>G	c.(7279-7281)tTa>tGa	p.L2427*	PTPN13_ENST00000316707.6_Nonsense_Mutation_p.L2236*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.L2432*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.L2408*|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.L2432*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2427	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTTCTGGGATTAATCAGTCAG	0.413																																																	0													78.0	71.0	74.0					4																	87731118		1906	4138	6044	SO:0001587	stop_gained	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.7280T>G	4.37:g.87731118T>G	ENSP00000407249:p.Leu2427*		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L2432*	ENST00000411767.2	37	c.7295	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	T	50	16.902687	0.99874	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.08	5.08	0.68730	.	0.000000	0.36002	N	0.002857	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1369	0.72576	0.0:0.0:0.0:1.0	.	.	.	.	X	2408;2432;2236;2427;2432;2376	.	ENSP00000322675:L2236X	L	+	2	0	PTPN13	87950142	0.972000	0.33761	0.829000	0.32907	0.943000	0.58893	5.894000	0.69806	2.031000	0.59945	0.533000	0.62120	TTA	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.413	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	T			87731118	+1	no_errors	ENST00000436978	ensembl	human	known	70_37	nonsense	SNP	0.997	G
PTPN5	84867	genome.wustl.edu	37	11	18751071	18751071	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18751071G>T	ENST00000358540.2	-	14	1963	c.1533C>A	c.(1531-1533)atC>atA	p.I511I	PTPN5_ENST00000477854.1_Silent_p.I315I|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396170.1_Silent_p.I479I|PTPN5_ENST00000396167.2_Silent_p.I479I|PTPN5_ENST00000396168.1_Silent_p.I487I|PTPN5_ENST00000396166.3_Silent_p.I117I|PTPN5_ENST00000396171.4_Silent_p.I511I	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	511	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GCTGGCAGCAGATGCTGGTGG	0.692																																																	0													37.0	38.0	38.0					11																	18751071		2199	4293	6492	SO:0001819	synonymous_variant	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1533C>A	11.37:g.18751071G>T			B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt	p.I511	ENST00000358540.2	37	c.1533	CCDS7845.1	11																																																																																			PTPN5	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con		0.692	PTPN5-001	KNOWN	basic|CCDS	protein_coding	PTPN5	HGNC	protein_coding	OTTHUMT00000259196.2	G	NM_001039970		18751071	-1	no_errors	ENST00000358540	ensembl	human	known	70_37	silent	SNP	1.000	T
PTPRD	5789	genome.wustl.edu	37	9	8389318	8389318	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:8389318C>T	ENST00000381196.4	-	34	4843	c.4300G>A	c.(4300-4302)Gaa>Aaa	p.E1434K	PTPRD_ENST00000358503.5_Missense_Mutation_p.E1412K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1421K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E1027K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E1024K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E1027K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1434K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E1027K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1434K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E1024K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E1028K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1434	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAATGTTTCGGGGAGAGAT	0.418										TSP Lung(15;0.13)																																							0													178.0	170.0	173.0					9																	8389318		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4300G>A	9.37:g.8389318C>T	ENSP00000370593:p.Glu1434Lys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.E1434K	ENST00000381196.4	37	c.4300	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.629974	0.96671	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.58428	1.81	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.997;0.997;0.997;0.997;1.0;0.996;1.0;1.0;1.0	P;P;P;P;D;P;D;D;D	0.85130	0.629;0.629;0.629;0.629;0.976;0.496;0.986;0.997;0.978	T	0.43376	-0.9395	9	.	.	.	.	20.119	0.97953	0.0:1.0:0.0:0.0	.	1027;1018;1027;1028;1024;1024;1421;1434;1434	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	1434;1434;1421;1412;1028;1027;1024;1024;905;1434;1027;1027	ENSP00000370593:E1434K;ENSP00000348812:E1434K;ENSP00000353187:E1421K;ENSP00000351293:E1412K;ENSP00000347373:E1028K;ENSP00000380741:E1027K;ENSP00000380735:E1024K;ENSP00000440515:E1024K;ENSP00000438164:E1434K;ENSP00000417093:E1027K;ENSP00000380731:E1027K	.	E	-	1	0	PTPRD	8379318	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.776000	0.85560	2.763000	0.94921	0.555000	0.69702	GAA	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8389318	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	T
PTPRF	5792	genome.wustl.edu	37	1	44044575	44044575	+	Silent	SNP	G	G	A	rs540168118	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:44044575G>A	ENST00000359947.4	+	7	1003	c.663G>A	c.(661-663)gcG>gcA	p.A221A	PTPRF_ENST00000438120.1_Silent_p.A221A|PTPRF_ENST00000372413.3_Silent_p.A221A|PTPRF_ENST00000372414.3_Silent_p.A221A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	221	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGCCCCTGCGAACCTGTATG	0.612													G|||	6	0.00119808	0.0	0.0	5008	,	,		20707	0.0		0.0	False		,,,				2504	0.0061																0													153.0	105.0	121.0					1																	44044575		2203	4300	6503	SO:0001819	synonymous_variant	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.663G>A	1.37:g.44044575G>A			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.A221	ENST00000359947.4	37	c.663	CCDS489.2	1																																																																																			PTPRF	-	smart_Ig_sub,pfscan_Ig-like		0.612	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44044575	+1	no_errors	ENST00000359947	ensembl	human	known	70_37	silent	SNP	0.726	A
PTPRG	5793	genome.wustl.edu	37	3	62153697	62153697	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:62153697C>T	ENST00000474889.1	+	8	1270	c.893C>T	c.(892-894)tCg>tTg	p.S298L	PTPRG_ENST00000295874.10_Missense_Mutation_p.S298L	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	298	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CATGTCAAGTCGGTGGAGTAT	0.507																																																	0													90.0	87.0	88.0					3																	62153697		2203	4300	6503	SO:0001583	missense	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.893C>T	3.37:g.62153697C>T	ENSP00000418112:p.Ser298Leu		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.S298L	ENST00000474889.1	37	c.893	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474139	0.26423	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.67345	-0.26;-0.26	5.2	5.2	0.72013	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.059036	0.64402	D	0.000001	T	0.61540	0.2355	L	0.48218	1.51	0.80722	D	1	P;P	0.49862	0.912;0.929	B;P	0.45037	0.336;0.467	T	0.61019	-0.7147	10	0.02654	T	1	.	19.0997	0.93269	0.0:1.0:0.0:0.0	.	298;298	P23470-2;P23470	.;PTPRG_HUMAN	L	298	ENSP00000418112:S298L;ENSP00000295874:S298L	ENSP00000295874:S298L	S	+	2	0	PTPRG	62128737	1.000000	0.71417	0.961000	0.40146	0.945000	0.59286	7.409000	0.80053	2.582000	0.87167	0.655000	0.94253	TCG	PTPRG	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.507	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	C	NM_002841		62153697	+1	no_errors	ENST00000474889	ensembl	human	known	70_37	missense	SNP	1.000	T
PTPRH	5794	genome.wustl.edu	37	19	55713513	55713513	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:55713513C>A	ENST00000376350.3	-	6	1086	c.1064G>T	c.(1063-1065)aGa>aTa	p.R355I	PTPRH_ENST00000263434.5_Missense_Mutation_p.R177I|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	355	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGGTTCAAGTCTATCCACGGT	0.562																																																	0													158.0	143.0	148.0					19																	55713513		2203	4300	6503	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1064G>T	19.37:g.55713513C>A	ENSP00000365528:p.Arg355Ile		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R355I	ENST00000376350.3	37	c.1064	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320508	0.41096	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.54675	0.56;0.56	4.64	0.911	0.19343	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35970	0.0950	N	0.22421	0.69	0.09310	N	1	P;P;P	0.39282	0.641;0.588;0.666	B;B;B	0.38500	0.275;0.118;0.149	T	0.22277	-1.0221	9	0.87932	D	0	.	6.3765	0.21511	0.0:0.6456:0.0:0.3544	.	177;177;355	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	I	355;177	ENSP00000365528:R355I;ENSP00000263434:R177I	ENSP00000263434:R177I	R	-	2	0	PTPRH	60405325	0.000000	0.05858	0.090000	0.20809	0.012000	0.07955	-0.907000	0.04067	0.373000	0.24621	0.456000	0.33151	AGA	PTPRH	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.562	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	C			55713513	-1	no_errors	ENST00000376350	ensembl	human	known	70_37	missense	SNP	0.025	A
PTPRO	5800	genome.wustl.edu	37	12	15718545	15718545	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:15718545G>T	ENST00000281171.4	+	18	3060	c.2730G>T	c.(2728-2730)aaG>aaT	p.K910N	PTPRO_ENST00000544244.1_Missense_Mutation_p.K71N|PTPRO_ENST00000348962.2_Missense_Mutation_p.K882N|PTPRO_ENST00000442921.2_Missense_Mutation_p.K99N|PTPRO_ENST00000542557.1_Missense_Mutation_p.K71N|PTPRO_ENST00000445537.2_Missense_Mutation_p.K99N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	910					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATGGTTTAAAGAAGAGGAAAC	0.254																																																	0													56.0	63.0	61.0					12																	15718545		2201	4292	6493	SO:0001583	missense	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2730G>T	12.37:g.15718545G>T	ENSP00000281171:p.Lys910Asn		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K910N	ENST00000281171.4	37	c.2730	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616305	0.66672	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.05319	3.46;3.8;3.53;3.71;3.53;3.71	5.14	4.25	0.50352	.	0.000000	0.52532	D	0.000066	T	0.13457	0.0326	N	0.24115	0.695	0.53005	D	0.999969	B;D;D	0.89917	0.372;1.0;1.0	B;D;D	0.83275	0.067;0.996;0.991	T	0.10132	-1.0643	10	0.44086	T	0.13	.	14.0085	0.64481	0.0737:0.0:0.9263:0.0	.	71;882;910	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	N	910;882;99;71;99;71	ENSP00000281171:K910N;ENSP00000343434:K882N;ENSP00000404188:K99N;ENSP00000437571:K71N;ENSP00000393449:K99N;ENSP00000439234:K71N	ENSP00000281171:K910N	K	+	3	2	PTPRO	15609812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.366000	0.73095	1.537000	0.49254	0.655000	0.94253	AAG	PTPRO	-	NULL		0.254	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	G			15718545	+1	no_errors	ENST00000281171	ensembl	human	known	70_37	missense	SNP	1.000	T
PTPRQ	374462	genome.wustl.edu	37	12	80838173	80838173	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:80838173G>T	ENST00000266688.5	+	1	48	c.48G>T	c.(46-48)gaG>gaT	p.E16D				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	58					regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						GGACTTCAGAGACACAGGTAT	0.348																																																	0													80.0	72.0	75.0					12																	80838173		692	1590	2282	SO:0001583	missense	374462			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.48G>T	12.37:g.80838173G>T	ENSP00000266688:p.Glu16Asp			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E16D	ENST00000266688.5	37	c.48		12	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782233	0.31502	.	.	ENSG00000139304	ENST00000266688	T	0.54279	0.58	5.7	3.86	0.44501	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39655	0.1086	L	0.31926	0.97	0.22171	N	0.999319	B	0.22146	0.065	B	0.21151	0.033	T	0.24012	-1.0172	9	0.30854	T	0.27	.	8.482	0.33049	0.0696:0.0:0.655:0.2754	.	58	Q9UMZ3	PTPRQ_HUMAN	D	16	ENSP00000266688:E16D	ENSP00000266688:E16D	E	+	3	2	PTPRQ	79362304	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.783000	0.38664	0.747000	0.32809	0.643000	0.83706	GAG	PTPRQ	-	superfamily_Fibronectin_type3		0.348	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		G	NM_001145026		80838173	+1	no_errors	ENST00000266688	ensembl	human	known	70_37	missense	SNP	1.000	T
PTPRZ1	5803	genome.wustl.edu	37	7	121608065	121608065	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:121608065C>A	ENST00000393386.2	+	3	596	c.185C>A	c.(184-186)tCt>tAt	p.S62Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S62Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	62	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCAAAACAATCTCCTATCAAT	0.303																																																	0													71.0	74.0	73.0					7																	121608065		2203	4295	6498	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.185C>A	7.37:g.121608065C>A	ENSP00000377047:p.Ser62Tyr		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.S62Y	ENST00000393386.2	37	c.185	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299846	0.81136	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.76060	-0.99;-0.99	5.53	5.53	0.82687	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000002	D	0.91808	0.7408	H	0.97340	3.985	0.46113	D	0.998875	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94125	0.7383	10	0.87932	D	0	.	19.8228	0.96604	0.0:1.0:0.0:0.0	.	62;62	C9JFM0;P23471	.;PTPRZ_HUMAN	Y	62	ENSP00000377047:S62Y;ENSP00000410000:S62Y	ENSP00000377047:S62Y	S	+	2	0	PTPRZ1	121395301	1.000000	0.71417	0.999000	0.59377	0.738000	0.42128	7.163000	0.77524	2.759000	0.94783	0.650000	0.86243	TCT	PTPRZ1	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.303	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	C	NM_002851		121608065	+1	no_errors	ENST00000393386	ensembl	human	known	70_37	missense	SNP	1.000	A
PURA	5813	genome.wustl.edu	37	5	139494072	139494072	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:139494072C>T	ENST00000331327.3	+	1	365	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	102					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTACTCTCTCCATGTCAG	0.662																																																	0													18.0	18.0	18.0					5																	139494072		2200	4300	6500	SO:0001819	synonymous_variant	5813			BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.306C>T	5.37:g.139494072C>T				Silent	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.L102	ENST00000331327.3	37	c.306	CCDS4220.1	5																																																																																			PURA	-	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd		0.662	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PURA	HGNC	protein_coding	OTTHUMT00000251341.3	C	NM_005859		139494072	+1	no_errors	ENST00000331327	ensembl	human	known	70_37	silent	SNP	1.000	T
PVRL3	25945	genome.wustl.edu	37	3	110837539	110837539	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:110837539C>A	ENST00000485303.1	+	3	814	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	PVRL3_ENST00000493615.1_Missense_Mutation_p.S157Y|PVRL3_ENST00000319792.3_Missense_Mutation_p.S180Y	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	180	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.S180F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GGGCCAGATTCTTTAATTGAT	0.368																																																	1	Substitution - Missense(1)	large_intestine(1)											34.0	32.0	33.0					3																	110837539		2203	4300	6503	SO:0001583	missense	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.539C>A	3.37:g.110837539C>A	ENSP00000418070:p.Ser180Tyr		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.S180Y	ENST00000485303.1	37	c.539	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750099	0.89753	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766	T;T;T;T	0.77877	-1.13;-1.13;-1.13;1.49	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.168207	0.52532	D	0.000061	T	0.77678	0.4166	N	0.14661	0.345	0.42308	D	0.992208	D;D	0.57571	0.98;0.975	P;P	0.60345	0.873;0.832	T	0.81733	-0.0798	10	0.72032	D	0.01	.	17.1218	0.86704	0.0:1.0:0.0:0.0	.	157;180	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	Y	180;180;157;165	ENSP00000418070:S180Y;ENSP00000321514:S180Y;ENSP00000420579:S157Y;ENSP00000420479:S165Y	ENSP00000321514:S180Y	S	+	2	0	PVRL3	112320229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.105000	0.64591	2.648000	0.89879	0.650000	0.86243	TCT	PVRL3	-	pfam_CD80_C2-set,pfscan_Ig-like		0.368	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	C	NM_015480		110837539	+1	no_errors	ENST00000485303	ensembl	human	known	70_37	missense	SNP	1.000	A
PXDN	7837	genome.wustl.edu	37	2	1652209	1652209	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:1652209C>T	ENST00000252804.4	-	17	3393	c.3343G>A	c.(3343-3345)Gat>Aat	p.D1115N		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1115					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D1115N(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGAAGCGGATCGATGCCGCCC	0.592																																																	1	Substitution - Missense(1)	lung(1)											33.0	40.0	37.0					2																	1652209		2038	4169	6207	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3343G>A	2.37:g.1652209C>T	ENSP00000252804:p.Asp1115Asn		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.D1115N	ENST00000252804.4	37	c.3343	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637319	0.87760	.	.	ENSG00000130508	ENST00000252804	T	0.76060	-0.99	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90179	0.4241	10	0.87932	D	0	-59.945	19.4069	0.94651	0.0:1.0:0.0:0.0	.	1115	Q92626	PXDN_HUMAN	N	1115	ENSP00000252804:D1115N	ENSP00000252804:D1115N	D	-	1	0	PXDN	1631216	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.734000	0.84928	2.588000	0.87417	0.650000	0.86243	GAT	PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.592	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	C	XM_056455		1652209	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	missense	SNP	1.000	T
PXDN	7837	genome.wustl.edu	37	2	1652918	1652918	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:1652918G>A	ENST00000252804.4	-	17	2684	c.2634C>T	c.(2632-2634)ttC>ttT	p.F878F		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	878					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGAGCGCACGAAGAACATGC	0.632																																																	0													20.0	23.0	22.0					2																	1652918		2157	4232	6389	SO:0001819	synonymous_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2634C>T	2.37:g.1652918G>A			A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.F878	ENST00000252804.4	37	c.2634	CCDS46221.1	2																																																																																			PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.632	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	G	XM_056455		1652918	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	silent	SNP	0.996	A
QSER1	79832	genome.wustl.edu	37	11	32953621	32953621	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:32953621C>A	ENST00000399302.2	+	4	765	c.430C>A	c.(430-432)Ctt>Att	p.L144I	QSER1_ENST00000527788.1_Missense_Mutation_p.L144I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	144	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGCACCCCATCTTTTACAACC	0.468																																																	0													144.0	138.0	140.0					11																	32953621		1925	4140	6065	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.430C>A	11.37:g.32953621C>A	ENSP00000382241:p.Leu144Ile		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.L144I	ENST00000399302.2	37	c.430	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802391	0.50315	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.79033	-1.23;-1.23	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000023	D	0.85630	0.5741	L	0.50333	1.59	0.36295	D	0.856634	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.87560	0.2471	10	0.48119	T	0.1	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	144;144	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	I	144	ENSP00000382241:L144I;ENSP00000432766:L144I	ENSP00000078652:L144I	L	+	1	0	QSER1	32910197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.714000	0.68422	2.579000	0.87056	0.655000	0.94253	CTT	QSER1	-	NULL		0.468	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	C	NM_024774		32953621	+1	no_errors	ENST00000399302	ensembl	human	known	70_37	missense	SNP	1.000	A
QSOX1	5768	genome.wustl.edu	37	1	180158779	180158779	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:180158779C>A	ENST00000367602.3	+	9	1184	c.1110C>A	c.(1108-1110)ttC>ttA	p.F370L	QSOX1_ENST00000367600.5_Missense_Mutation_p.F370L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	370					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.F370L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTACAGTTTCTTTAAAACTG	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)											72.0	77.0	75.0					1																	180158779		2203	4300	6503	SO:0001583	missense	5768			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1110C>A	1.37:g.180158779C>A	ENSP00000356574:p.Phe370Leu		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold	p.F370L	ENST00000367602.3	37	c.1110	CCDS1337.1	1	.	.	.	.	.	.	.	.	.	.	C	6.178	0.400958	0.11696	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.16196	3.7;2.36	5.2	-0.826	0.10805	.	0.839141	0.10926	N	0.618945	T	0.10551	0.0258	L	0.36672	1.1	0.09310	N	0.999993	B;B;B	0.12013	0.003;0.001;0.005	B;B;B	0.08055	0.001;0.002;0.003	T	0.37150	-0.9718	10	0.22109	T	0.4	-2.195	4.3017	0.10927	0.2599:0.4732:0.0:0.2669	.	370;370;370	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	L	370	ENSP00000356574:F370L;ENSP00000356572:F370L	ENSP00000356572:F370L	F	+	3	2	QSOX1	178425402	0.011000	0.17503	0.023000	0.16930	0.750000	0.42670	-0.037000	0.12164	-0.081000	0.12662	0.655000	0.94253	TTC	QSOX1	-	NULL		0.478	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1	C	NM_002826		180158779	+1	no_errors	ENST00000367602	ensembl	human	known	70_37	missense	SNP	0.025	A
R3HDM1	23518	genome.wustl.edu	37	2	136389450	136389450	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:136389450C>T	ENST00000264160.4	+	9	947	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	R3HDM1_ENST00000410054.1_Missense_Mutation_p.P137S|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P149S|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P193S|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P149S	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	193	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TAAAAAATTCCCCCCAATGAC	0.393																																																	0													127.0	125.0	126.0					2																	136389450		2203	4300	6503	SO:0001583	missense	23518			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.577C>T	2.37:g.136389450C>T	ENSP00000264160:p.Pro193Ser		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.P193S	ENST00000264160.4	37	c.577	CCDS2177.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.219120	0.95104	.	.	ENSG00000048991	ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.76	5.76	0.90799	Single-stranded nucleic acid binding R3H (3);	0.000000	0.85682	D	0.000000	T	0.76499	0.3996	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.998	T	0.80500	-0.1355	10	0.72032	D	0.01	-6.3431	19.9618	0.97254	0.0:1.0:0.0:0.0	.	149;193;137;193	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	S	149;149;193;149;137;193	ENSP00000386457:P149S;ENSP00000264160:P193S;ENSP00000331396:P149S;ENSP00000386877:P137S;ENSP00000387010:P193S	ENSP00000264160:P193S	P	+	1	0	R3HDM1	136105920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.722000	0.93159	0.650000	0.86243	CCC	R3HDM1	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd		0.393	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	HGNC	protein_coding	OTTHUMT00000254659.1	C	NM_015361		136389450	+1	no_errors	ENST00000264160	ensembl	human	known	70_37	missense	SNP	1.000	T
RAB31	11031	genome.wustl.edu	37	18	9815133	9815133	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:9815133G>T	ENST00000578921.1	+	5	535	c.294G>T	c.(292-294)aaG>aaT	p.K98N		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	97					cellular response to insulin stimulus (GO:0032869)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|receptor internalization (GO:0031623)|regulated secretory pathway (GO:0045055)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						ATACCTTGAAGAAATGGGTCA	0.383																																																	0													66.0	65.0	65.0					18																	9815133		1870	4080	5950	SO:0001583	missense	11031			U59877	CCDS45826.1	18p11.22	2014-03-18			ENSG00000168461	ENSG00000168461		"""RAB, member RAS oncogene"""	9771	protein-coding gene	gene with protein product		605694				8863739	Standard	NM_006868		Approved	Rab22B	uc002kog.2	Q13636	OTTHUMG00000178513	ENST00000578921.1:c.294G>T	18.37:g.9815133G>T	ENSP00000461945:p.Lys98Asn		B2RBT7|Q15770|Q9HC00	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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.K98N	ENST00000578921.1	37	c.294	CCDS45826.1	18	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572077	0.86542	.	.	ENSG00000168461	ENST00000306096;ENST00000435762	.	.	.	5.64	4.76	0.60689	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	L	0.56124	1.755	0.80722	D	1	D	0.62365	0.991	D	0.69142	0.962	T	0.68712	-0.5336	8	.	.	.	-13.1423	12.9737	0.58527	0.0808:0.0:0.9192:0.0	.	97	Q13636	RAB31_HUMAN	N	98;89	.	.	K	+	3	2	RAB31	9805133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.096000	0.50243	1.493000	0.48517	0.655000	0.94253	AAG	RAB31	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.383	RAB31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB31	HGNC	protein_coding	OTTHUMT00000442280.3	G			9815133	+1	no_errors	ENST00000306096	ensembl	human	known	70_37	missense	SNP	1.000	T
RAB39B	116442	genome.wustl.edu	37	X	154490247	154490247	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:154490247C>A	ENST00000369454.3	-	2	783	c.483G>T	c.(481-483)gaG>gaT	p.E161D		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	161					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGAAGGCTTTCTCCACATTAA	0.502																																																	0													105.0	84.0	91.0					X																	154490247		2203	4300	6503	SO:0001583	missense	116442			AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.483G>T	X.37:g.154490247C>A	ENSP00000358466:p.Glu161Asp		Q5JT79|Q8NEX3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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.E161D	ENST00000369454.3	37	c.483	CCDS14766.1	X	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626278	0.66901	.	.	ENSG00000155961	ENST00000369454	T	0.78246	-1.16	5.17	5.17	0.71159	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	N	0.11756	0.17	0.51012	D	0.999901	D	0.58620	0.983	D	0.68483	0.958	T	0.77424	-0.2593	10	0.59425	D	0.04	.	9.0317	0.36262	0.0:0.8963:0.0:0.1037	.	161	Q96DA2	RB39B_HUMAN	D	161	ENSP00000358466:E161D	ENSP00000358466:E161D	E	-	3	2	RAB39B	154143441	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.782000	0.55401	2.280000	0.76307	0.513000	0.50165	GAG	RAB39B	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.502	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB39B	HGNC	protein_coding	OTTHUMT00000058792.1	C	NM_171998		154490247	-1	no_errors	ENST00000369454	ensembl	human	known	70_37	missense	SNP	1.000	A
RAB3GAP2	25782	genome.wustl.edu	37	1	220440682	220440682	+	Intron	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:220440682A>G	ENST00000358951.2	-	1	232				RAB3GAP2_ENST00000462353.1_5'UTR	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAGTCTGATTATATTAGGATG	0.403																																																	0																																										SO:0001627	intron_variant	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.115+4882T>C	1.37:g.220440682A>G			A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	RNA	SNP	-	NULL	ENST00000358951.2	37	NULL	CCDS31028.1	1																																																																																			RAB3GAP2	-	-		0.403	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	A	NM_012414		220440682	-1	no_errors	ENST00000462353	ensembl	human	known	70_37	rna	SNP	1.000	G
RAB8B	51762	genome.wustl.edu	37	15	63481897	63481897	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:63481897T>G	ENST00000321437.4	+	1	230	c.74T>G	c.(73-75)cTg>cGg	p.L25R	RAB8B_ENST00000448330.2_Missense_Mutation_p.L25R	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	25					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						ACCTGCCTCCTGTTCCGCTTC	0.637																																																	0													73.0	55.0	61.0					15																	63481897		2203	4300	6503	SO:0001583	missense	51762			AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"""RAB, member RAS oncogene"""	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.74T>G	15.37:g.63481897T>G	ENSP00000312734:p.Leu25Arg		Q5JPC4|Q9P293	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,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.L25R	ENST00000321437.4	37	c.74	CCDS10183.1	15	.	.	.	.	.	.	.	.	.	.	T	17.99	3.522922	0.64747	.	.	ENSG00000166128	ENST00000321437;ENST00000448330	T;T	0.80824	-1.42;-1.42	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.073810	0.56097	D	0.000029	D	0.93190	0.7831	H	0.98370	4.215	0.58432	D	0.999998	D;D	0.63046	0.99;0.992	P;D	0.66979	0.886;0.948	D	0.95381	0.8473	10	0.87932	D	0	.	13.528	0.61605	0.0:0.0:0.0:1.0	.	25;25	F5GY21;Q92930	.;RAB8B_HUMAN	R	25	ENSP00000312734:L25R;ENSP00000405463:L25R	ENSP00000312734:L25R	L	+	2	0	RAB8B	61268950	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	4.868000	0.63021	1.876000	0.54355	0.528000	0.53228	CTG	RAB8B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.637	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8B	HGNC	protein_coding	OTTHUMT00000256336.1	T	NM_016530		63481897	+1	no_errors	ENST00000321437	ensembl	human	known	70_37	missense	SNP	1.000	G
RABGGTA	5875	genome.wustl.edu	37	14	24737824	24737824	+	Splice_Site	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:24737824A>G	ENST00000399409.3	-	9	1385	c.902T>C	c.(901-903)cTc>cCc	p.L301P	RABGGTA_ENST00000216840.6_Splice_Site_p.L301P|RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000560777.1_Intron	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	301					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		CAGGTCACAGAGCTGGGAGTA	0.557																																																	0													76.0	82.0	80.0					14																	24737824		2066	4198	6264	SO:0001630	splice_region_variant	5875				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.901-1T>C	14.37:g.24737824A>G			A8K5N2|D3DS69	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a	p.L301P	ENST00000399409.3	37	c.902	CCDS45088.1	14	.	.	.	.	.	.	.	.	.	.	A	16.96	3.265020	0.59431	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.53206	0.63;0.63	5.41	5.41	0.78517	Rab geranylgeranyltransferase, alpha subunit, insert-domain (4);	0.202149	0.45126	D	0.000382	T	0.60235	0.2253	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.58741	-0.7583	10	0.39692	T	0.17	-7.9079	12.9523	0.58407	1.0:0.0:0.0:0.0	.	301	Q92696	PGTA_HUMAN	P	301;301;264	ENSP00000216840:L301P;ENSP00000382341:L301P	ENSP00000216840:L301P	L	-	2	0	RABGGTA	23807664	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.993000	0.76245	2.056000	0.61249	0.379000	0.24179	CTC	RABGGTA	-	pfam_RabGGT_asu_insert-domain,superfamily_RabGGT_asu_insert-domain		0.557	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RABGGTA	HGNC	protein_coding	OTTHUMT00000415308.5	A	NM_182836	Missense_Mutation	24737824	-1	no_errors	ENST00000216840	ensembl	human	known	70_37	missense	SNP	1.000	G
RABGGTB	5876	genome.wustl.edu	37	1	76255787	76255787	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:76255787A>C	ENST00000319942.3	+	4	486				SNORD45A_ENST00000384512.1_RNA|SNORD45C_ENST00000383893.1_RNA|SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000535300.1_Intron|RABGGTB_ENST00000370826.3_3'UTR|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CCAATATTAAAATGTACTGGT	0.373																																																	0													71.0	71.0	71.0					1																	76255787		2202	4299	6501	SO:0001627	intron_variant	5876			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.415+45A>C	1.37:g.76255787A>C			Q92697	RNA	SNP	-	NULL	ENST00000319942.3	37	NULL	CCDS669.1	1																																																																																			RABGGTB	-	-		0.373	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	HGNC	protein_coding	OTTHUMT00000026972.1	A	NM_004582		76255787	+1	no_errors	ENST00000461653	ensembl	human	known	70_37	rna	SNP	0.002	C
RABL2B	11158	genome.wustl.edu	37	22	51205966	51205966	+	3'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:51205966A>C	ENST00000395598.3	-	0	2136				RABL2B_ENST00000435118.1_3'UTR|RABL2B_ENST00000395593.3_3'UTR|RABL2B_ENST00000354869.3_3'UTR|RABL2B_ENST00000395591.1_3'UTR|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000395595.3_3'UTR	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B						GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		GTAAAAAAGGAAACAACAAAA	0.353																																					GBM(148;358 1894 4987 13698 40400)												0																																										SO:0001624	3_prime_UTR_variant	11158				CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"""RAB, member RAS oncogene"""	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.*1238T>G	22.37:g.51205966A>C			Q5TZT8|Q96C33	RNA	SNP	-	NULL	ENST00000395598.3	37	NULL	CCDS14102.1	22																																																																																			RABL2B	-	-		0.353	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2B	HGNC	protein_coding	OTTHUMT00000316606.1	A	NM_001003789		51205966	-1	no_errors	ENST00000465063	ensembl	human	known	70_37	rna	SNP	0.000	C
RAC3	5881	genome.wustl.edu	37	17	79991391	79991391	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:79991391G>T	ENST00000306897.4	+	5	502	c.364G>T	c.(364-366)Gac>Tac	p.D122Y		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	122					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCTCCGCGACGACAAGGACAC	0.672																																																	0													55.0	52.0	53.0					17																	79991391		2200	4300	6500	SO:0001583	missense	5881			AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.364G>T	17.37:g.79991391G>T	ENSP00000304283:p.Asp122Tyr		O14658|Q5U0M8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D122Y	ENST00000306897.4	37	c.364	CCDS11798.1	17	.	.	.	.	.	.	.	.	.	.	g	26.7	4.758744	0.89843	.	.	ENSG00000169750	ENST00000306897	T	0.70749	-0.51	3.91	3.91	0.45181	Small GTP-binding protein domain (1);	0.260108	0.36482	N	0.002572	D	0.87873	0.6287	H	0.94620	3.56	0.80722	D	1	D	0.58970	0.984	D	0.70487	0.969	D	0.91887	0.5520	9	.	.	.	.	16.1115	0.81266	0.0:0.0:1.0:0.0	.	122	P60763	RAC3_HUMAN	Y	122	ENSP00000304283:D122Y	.	D	+	1	0	RAC3	77584680	1.000000	0.71417	0.988000	0.46212	0.985000	0.73830	9.432000	0.97498	2.000000	0.58554	0.651000	0.88453	GAC	RAC3	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.672	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAC3	HGNC	protein_coding	OTTHUMT00000442064.1	G			79991391	+1	no_errors	ENST00000306897	ensembl	human	known	70_37	missense	SNP	1.000	T
RAD54L2	23132	genome.wustl.edu	37	3	51661692	51661692	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:51661692A>G	ENST00000409535.2	+	3	388	c.263A>G	c.(262-264)cAc>cGc	p.H88R	RAD54L2_ENST00000296477.3_5'Flank	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	88						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTTAGGCGCCACCAAGGCAAG	0.562																																																	0													64.0	64.0	64.0					3																	51661692		692	1591	2283	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.263A>G	3.37:g.51661692A>G	ENSP00000386520:p.His88Arg		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H88R	ENST00000409535.2	37	c.263	CCDS33765.2	3	.	.	.	.	.	.	.	.	.	.	A	8.448	0.852364	0.17106	.	.	ENSG00000164080	ENST00000409535	T	0.21031	2.03	5.69	1.76	0.24704	.	.	.	.	.	T	0.09598	0.0236	N	0.08118	0	0.80722	D	1	B	0.26400	0.148	B	0.17098	0.017	T	0.22695	-1.0209	9	0.15952	T	0.53	-6.0962	12.3667	0.55232	0.5004:0.4996:0.0:0.0	.	88	Q9Y4B4	ARIP4_HUMAN	R	88	ENSP00000386520:H88R	ENSP00000386520:H88R	H	+	2	0	RAD54L2	51636732	1.000000	0.71417	0.890000	0.34922	0.269000	0.26545	1.123000	0.31308	0.038000	0.15604	0.533000	0.62120	CAC	RAD54L2	-	NULL		0.562	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	A	NM_015106		51661692	+1	no_errors	ENST00000409535	ensembl	human	known	70_37	missense	SNP	0.949	G
RAI2	10742	genome.wustl.edu	37	X	17818545	17818545	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:17818545C>A	ENST00000545871.1	-	3	2046	c.1586G>T	c.(1585-1587)aGa>aTa	p.R529I	RAI2_ENST00000360011.1_Missense_Mutation_p.R529I|RAI2_ENST00000451717.1_Missense_Mutation_p.R529I|RAI2_ENST00000415486.3_Missense_Mutation_p.R479I|RAI2_ENST00000331511.1_Missense_Mutation_p.R529I	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	529					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TATTTACTTTCTTGGAAAAAA	0.323																																																	0													171.0	189.0	182.0					X																	17818545		2203	4300	6503	SO:0001583	missense	10742			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1586G>T	X.37:g.17818545C>A	ENSP00000444210:p.Arg529Ile		B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	NULL	p.R529I	ENST00000545871.1	37	c.1586	CCDS14183.1	X	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582244	0.65992	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.51325	0.75;0.75;0.75;0.75;0.71	4.81	4.81	0.61882	.	0.119147	0.53938	D	0.000050	T	0.59742	0.2216	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64309	-0.6438	10	0.87932	D	0	-14.5287	17.3836	0.87410	0.0:1.0:0.0:0.0	.	479;529	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	I	529;529;529;529;479	ENSP00000333456:R529I;ENSP00000353106:R529I;ENSP00000444210:R529I;ENSP00000401323:R529I;ENSP00000392578:R479I	ENSP00000333456:R529I	R	-	2	0	RAI2	17728466	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.060000	0.76692	2.376000	0.81061	0.600000	0.82982	AGA	RAI2	-	NULL		0.323	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI2	HGNC	protein_coding	OTTHUMT00000055937.1	C	NM_021785		17818545	-1	no_errors	ENST00000331511	ensembl	human	known	70_37	missense	SNP	1.000	A
RAI2	10742	genome.wustl.edu	37	X	17818979	17818979	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:17818979A>C	ENST00000545871.1	-	3	1612	c.1152T>G	c.(1150-1152)atT>atG	p.I384M	RAI2_ENST00000360011.1_Missense_Mutation_p.I384M|RAI2_ENST00000451717.1_Missense_Mutation_p.I384M|RAI2_ENST00000415486.3_Missense_Mutation_p.I334M|RAI2_ENST00000331511.1_Missense_Mutation_p.I384M	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	384					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGCAAAAGAAATTTCCATGC	0.557																																																	0													59.0	54.0	56.0					X																	17818979		2203	4300	6503	SO:0001583	missense	10742			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1152T>G	X.37:g.17818979A>C	ENSP00000444210:p.Ile384Met		B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	NULL	p.I384M	ENST00000545871.1	37	c.1152	CCDS14183.1	X	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.100277	0.00360	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.29	-0.499	0.12015	.	1.209090	0.05841	N	0.619325	T	0.10337	0.0253	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20605	-1.0270	10	0.41790	T	0.15	-0.3148	0.0746	0.00025	0.3092:0.223:0.1641:0.3036	.	334;384	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	M	384;384;384;384;334	ENSP00000333456:I384M;ENSP00000353106:I384M;ENSP00000444210:I384M;ENSP00000401323:I384M;ENSP00000392578:I334M	ENSP00000333456:I384M	I	-	3	3	RAI2	17728900	0.100000	0.21855	0.057000	0.19452	0.017000	0.09413	0.151000	0.16283	-0.116000	0.11893	-2.419000	0.00218	ATT	RAI2	-	NULL		0.557	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI2	HGNC	protein_coding	OTTHUMT00000055937.1	A	NM_021785		17818979	-1	no_errors	ENST00000331511	ensembl	human	known	70_37	missense	SNP	0.012	C
RALGPS1	9649	genome.wustl.edu	37	9	129977105	129977105	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:129977105A>C	ENST00000259351.5	+	18	1895	c.1628A>C	c.(1627-1629)aAa>aCa	p.K543T	RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000373434.1_Missense_Mutation_p.K493T|RALGPS1_ENST00000424082.2_Missense_Mutation_p.K501T	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	543	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GATGCATGTAAAAGCAACAGG	0.438											OREG0019504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													157.0	141.0	146.0					9																	129977105		2203	4300	6503	SO:0001583	missense	9649			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1628A>C	9.37:g.129977105A>C	ENSP00000259351:p.Lys543Thr	1576	B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.K543T	ENST00000259351.5	37	c.1628	CCDS35143.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.68|15.68	2.904846|2.904846	0.52333|0.52333	.|.	.|.	ENSG00000136828|ENSG00000136828	ENST00000438723|ENST00000259351;ENST00000424082;ENST00000373434	T|T;T;T	0.77358|0.76968	-1.09|-1.06;-1.06;-1.06	5.7|5.7	5.7|5.7	0.88788|0.88788	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.044345|0.044345	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.74779|0.74779	0.3761|0.3761	L|L	0.34521|0.34521	1.04|1.04	0.36035|0.36035	D|D	0.839644|0.839644	.|B;P;P	.|0.39282	.|0.389;0.552;0.666	.|B;B;P	.|0.46975	.|0.273;0.247;0.533	T|T	0.75679|0.75679	-0.3234|-0.3234	8|10	0.15066|0.18276	T|T	0.55|0.48	.|.	15.9765|15.9765	0.80071|0.80071	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|501;493;543	.|E9PBQ5;Q5JS13-2;Q5JS13	.|.;.;RGPS1_HUMAN	Q|T	139|543;501;493	ENSP00000404021:K139Q|ENSP00000259351:K543T;ENSP00000415630:K501T;ENSP00000362533:K493T	ENSP00000404021:K139Q|ENSP00000259351:K543T	K|K	+|+	1|2	0|0	RALGPS1|RALGPS1	129016926|129016926	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.451000|6.451000	0.73481|0.73481	2.172000|2.172000	0.68678|0.68678	0.533000|0.533000	0.62120|0.62120	AAA|AAA	RALGPS1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.438	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS1	HGNC	protein_coding	OTTHUMT00000054133.1	A	NM_014636		129977105	+1	no_errors	ENST00000259351	ensembl	human	known	70_37	missense	SNP	1.000	C
RALGPS2	55103	genome.wustl.edu	37	1	178753625	178753625	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:178753625G>A	ENST00000367635.3	+	3	468	c.130G>A	c.(130-132)Gat>Aat	p.D44N	RALGPS2_ENST00000367634.2_Missense_Mutation_p.D44N	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	44					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGTGGTATTCGATGTTCTTAA	0.388																																																	0													141.0	130.0	134.0					1																	178753625		2203	4300	6503	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.130G>A	1.37:g.178753625G>A	ENSP00000356607:p.Asp44Asn		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.D44N	ENST00000367635.3	37	c.130	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896916	0.91962	.	.	ENSG00000116191	ENST00000367635;ENST00000367634	T;T	0.29655	1.56;1.56	5.32	5.32	0.75619	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	L	0.59436	1.845	0.80722	D	1	D;D	0.55605	0.972;0.972	B;B	0.44315	0.428;0.446	T	0.20706	-1.0267	10	0.46703	T	0.11	.	17.7576	0.88453	0.0:0.0:1.0:0.0	.	44;44	B7Z7B1;Q86X27	.;RGPS2_HUMAN	N	44	ENSP00000356607:D44N;ENSP00000356606:D44N	ENSP00000356606:D44N	D	+	1	0	RALGPS2	177020248	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.898000	0.92538	2.479000	0.83701	0.467000	0.42956	GAT	RALGPS2	-	superfamily_Ras_GEF_dom		0.388	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	G	NM_152663		178753625	+1	no_errors	ENST00000367635	ensembl	human	known	70_37	missense	SNP	1.000	A
RALGPS2	55103	genome.wustl.edu	37	1	178875917	178875917	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:178875917C>T	ENST00000367635.3	+	19	1975	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L	RALGPS2_ENST00000367634.2_Missense_Mutation_p.S520L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	546	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S546L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTAGGAAATTCGTACAAGTTT	0.333																																																	1	Substitution - Missense(1)	large_intestine(1)											82.0	81.0	81.0					1																	178875917		2203	4300	6503	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1637C>T	1.37:g.178875917C>T	ENSP00000356607:p.Ser546Leu		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.S546L	ENST00000367635.3	37	c.1637	CCDS1325.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157374|4.157374	0.78114|0.78114	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367632|ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	.|T;T;T	.|0.79352	.|-1.26;-1.26;-1.26	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.069958	.|0.64402	.|D	.|0.000015	T|T	0.74245|0.74245	0.3691|0.3691	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24132	.|0.049;0.098	.|B;B	.|0.26517	.|0.02;0.07	T|T	0.67421|0.67421	-0.5675|-0.5675	5|10	.|0.41790	.|T	.|0.15	.|.	20.2585|20.2585	0.98435|0.98435	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|520;546	.|B7Z7B1;Q86X27	.|.;RGPS2_HUMAN	C|L	137|546;520;511;195	.|ENSP00000356607:S546L;ENSP00000356606:S520L;ENSP00000313613:S511L	.|ENSP00000313613:S511L	R|S	+|+	1|2	0|0	RALGPS2|RALGPS2	177142540|177142540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.276000|7.276000	0.78559|0.78559	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CGT|TCG	RALGPS2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.333	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	C	NM_152663		178875917	+1	no_errors	ENST00000367635	ensembl	human	known	70_37	missense	SNP	1.000	T
RANBP2	5903	genome.wustl.edu	37	2	109345596	109345596	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:109345596G>T	ENST00000283195.6	+	2	207	c.81G>T	c.(79-81)atG>atT	p.M27I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	27					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAAGTCAATGAAAGGATTCT	0.234																																																	0													24.0	31.0	28.0					2																	109345596		1280	2228	3508	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.81G>T	2.37:g.109345596G>T	ENSP00000283195:p.Met27Ile		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.M27I	ENST00000283195.6	37	c.81	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	g	12.38	1.919532	0.33908	.	.	ENSG00000153201	ENST00000409491;ENST00000283195;ENST00000456637	T	0.26957	1.7	4.26	3.39	0.38822	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.22166	0.0534	L	0.40543	1.245	0.21822	N	0.999529	B	0.20261	0.043	B	0.16722	0.016	T	0.15037	-1.0451	9	0.33141	T	0.24	-1.3438	12.0511	0.53507	0.0855:0.0:0.9145:0.0	.	27	P49792	RBP2_HUMAN	I	27;27;1	ENSP00000283195:M27I	ENSP00000283195:M27I	M	+	3	0	RANBP2	108712028	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.757000	0.47557	1.028000	0.39785	-0.366000	0.07423	ATG	RANBP2	-	pfscan_TPR-contain_dom		0.234	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	G	NM_006267		109345596	+1	no_errors	ENST00000283195	ensembl	human	known	70_37	missense	SNP	1.000	T
RANBP3L	202151	genome.wustl.edu	37	5	36271364	36271364	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:36271364T>G	ENST00000296604.3	-	2	626	c.141A>C	c.(139-141)caA>caC	p.Q47H	RANBP3L_ENST00000515759.1_Missense_Mutation_p.Q47H|RANBP3L_ENST00000502994.1_Missense_Mutation_p.Q47H	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	47					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CCTTAAAAGTTTGTTCTCCCT	0.323																																																	0													59.0	64.0	62.0					5																	36271364		2202	4299	6501	SO:0001583	missense	202151			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.141A>C	5.37:g.36271364T>G	ENSP00000296604:p.Gln47His		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.Q47H	ENST00000296604.3	37	c.141	CCDS3918.1	5	.	.	.	.	.	.	.	.	.	.	T	3.137	-0.177109	0.06380	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759;ENST00000505865	T;T;T;T	0.50548	1.78;1.71;1.79;0.74	5.6	-1.75	0.08031	.	0.763645	0.12445	N	0.468322	T	0.29588	0.0738	L	0.31065	0.9	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.27020	-1.0086	10	0.14252	T	0.57	0.5126	9.7206	0.40300	0.1062:0.0:0.4459:0.448	.	47;47	E9PGP9;Q86VV4	.;RNB3L_HUMAN	H	47	ENSP00000296604:Q47H;ENSP00000421853:Q47H;ENSP00000421149:Q47H;ENSP00000427147:Q47H	ENSP00000296604:Q47H	Q	-	3	2	RANBP3L	36307121	0.662000	0.27439	0.283000	0.24790	0.644000	0.38419	0.066000	0.14489	-0.737000	0.04824	-3.075000	0.00066	CAA	RANBP3L	-	NULL		0.323	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RANBP3L	HGNC	protein_coding	OTTHUMT00000253773.2	T	NM_145000		36271364	-1	no_errors	ENST00000296604	ensembl	human	known	70_37	missense	SNP	0.591	G
RANBP6	26953	genome.wustl.edu	37	9	6012865	6012865	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:6012865G>A	ENST00000259569.5	-	1	2753	c.2743C>T	c.(2743-2745)Cgg>Tgg	p.R915W	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	915					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTGGCCACCGAAAATATTCT	0.443																																																	0													67.0	63.0	65.0					9																	6012865		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2743C>T	9.37:g.6012865G>A	ENSP00000259569:p.Arg915Trp		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R915W	ENST00000259569.5	37	c.2743	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906956	0.33628	.	.	ENSG00000137040	ENST00000259569	T	0.68181	-0.31	4.46	2.6	0.31112	Armadillo-like helical (1);Armadillo-type fold (2);	0.151374	0.44688	D	0.000433	T	0.33876	0.0878	N	0.08118	0	0.32978	D	0.523207	P;P;P	0.44627	0.839;0.737;0.839	B;B;B	0.23275	0.045;0.031;0.045	T	0.52555	-0.8560	10	0.72032	D	0.01	-7.4196	7.5938	0.28035	0.0892:0.0:0.7465:0.1644	.	82;503;915	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	W	915	ENSP00000259569:R915W	ENSP00000259569:R915W	R	-	1	2	RANBP6	6002865	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.352000	0.59404	0.796000	0.33947	0.650000	0.86243	CGG	RANBP6	-	superfamily_ARM-type_fold		0.443	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	G	NM_012416		6012865	-1	no_errors	ENST00000259569	ensembl	human	known	70_37	missense	SNP	1.000	A
RANBP6	26953	genome.wustl.edu	37	9	6013473	6013473	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:6013473A>G	ENST00000259569.5	-	1	2145	c.2135T>C	c.(2134-2136)gTg>gCg	p.V712A	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	712					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CATCAGCTTCACAACTTGTTC	0.408																																																	0													120.0	121.0	121.0					9																	6013473		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2135T>C	9.37:g.6013473A>G	ENSP00000259569:p.Val712Ala		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.V712A	ENST00000259569.5	37	c.2135	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	A	11.26	1.587297	0.28268	.	.	ENSG00000137040	ENST00000259569	T	0.69040	-0.37	3.79	3.79	0.43588	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.49966	0.1588	L	0.45228	1.405	0.80722	D	1	P;P	0.37276	0.589;0.589	B;B	0.32393	0.145;0.145	T	0.48222	-0.9054	10	0.07990	T	0.79	-9.6891	11.1695	0.48563	1.0:0.0:0.0:0.0	.	300;712	B4DTX6;O60518	.;RNBP6_HUMAN	A	712	ENSP00000259569:V712A	ENSP00000259569:V712A	V	-	2	0	RANBP6	6003473	1.000000	0.71417	0.937000	0.37676	0.997000	0.91878	6.973000	0.76116	1.948000	0.56530	0.528000	0.53228	GTG	RANBP6	-	superfamily_ARM-type_fold		0.408	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	A	NM_012416		6013473	-1	no_errors	ENST00000259569	ensembl	human	known	70_37	missense	SNP	1.000	G
RAP1A	5906	genome.wustl.edu	37	1	112247085	112247085	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:112247085A>G	ENST00000369709.3	+	6	624	c.445A>G	c.(445-447)Aag>Gag	p.K149E	RAP1A_ENST00000436150.2_Missense_Mutation_p.K149E|RAP1A_ENST00000356415.1_Missense_Mutation_p.K149E|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000545460.1_Missense_Mutation_p.K149E	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	149					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		ATCTTCTGCAAAGTCAAAGAT	0.403																																																	0													91.0	85.0	87.0					1																	112247085		2203	4300	6503	SO:0001583	missense	5906			BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.445A>G	1.37:g.112247085A>G	ENSP00000358723:p.Lys149Glu		P10113	Missense_Mutation	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.K149E	ENST00000369709.3	37	c.445	CCDS840.1	1	.	.	.	.	.	.	.	.	.	.	A	32	5.106904	0.94292	.	.	ENSG00000116473	ENST00000356415;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.92	5.92	0.95590	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86489	0.5945	M	0.93763	3.455	0.80722	D	1	P	0.40431	0.717	P	0.55455	0.776	D	0.89136	0.3513	10	0.87932	D	0	.	16.0245	0.80532	1.0:0.0:0.0:0.0	.	149	P62834	RAP1A_HUMAN	E	149	ENSP00000348786:K149E;ENSP00000358723:K149E;ENSP00000394318:K149E;ENSP00000443009:K149E	ENSP00000348786:K149E	K	+	1	0	RAP1A	112048608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.266000	0.75297	0.533000	0.62120	AAG	RAP1A	-	pfam_Small_GTPase,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		0.403	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP1A	HGNC	protein_coding	OTTHUMT00000033071.1	A	NM_002884		112247085	+1	no_errors	ENST00000356415	ensembl	human	known	70_37	missense	SNP	1.000	G
RAPH1	65059	genome.wustl.edu	37	2	204360053	204360053	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:204360053T>G	ENST00000319170.5	-	2	323	c.24A>C	c.(22-24)gaA>gaC	p.E8D	RAPH1_ENST00000419464.1_Missense_Mutation_p.E8D|RAPH1_ENST00000453034.1_Missense_Mutation_p.E8D|RAPH1_ENST00000423104.1_Missense_Mutation_p.E8D|RAPH1_ENST00000439222.1_Missense_Mutation_p.E8D|RAPH1_ENST00000374493.3_Missense_Mutation_p.E8D|RAPH1_ENST00000308091.4_Missense_Mutation_p.E8D|RAPH1_ENST00000374489.2_Missense_Mutation_p.E8D|RAPH1_ENST00000418114.1_Missense_Mutation_p.E8D|RAPH1_ENST00000457812.1_Missense_Mutation_p.E8D|RAPH1_ENST00000374488.2_Missense_Mutation_p.E8D	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	8					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATGATCAATTTCTTCATCTG	0.393																																																	0													151.0	138.0	142.0					2																	204360053		2203	4300	6503	SO:0001583	missense	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.24A>C	2.37:g.204360053T>G	ENSP00000316543:p.Glu8Asp		Q96Q37|Q9C0I2	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.E8D	ENST00000319170.5	37	c.24	CCDS2359.1	2	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435639	0.62955	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201;ENST00000428637;ENST00000420371	T;T;T;T;T;T;T;T;T;T;T	0.52983	0.68;0.68;0.64;0.64;0.66;0.66;0.66;0.68;0.64;0.66;0.67	5.79	4.64	0.57946	.	0.000000	0.52532	D	0.000064	T	0.60753	0.2293	L	0.53249	1.67	0.40603	D	0.9816	P;D;D	0.69078	0.866;0.994;0.997	P;D;D	0.72625	0.594;0.97;0.978	T	0.63528	-0.6617	10	0.87932	D	0	-26.1313	9.7906	0.40704	0.0:0.145:0.0:0.855	.	8;8;8	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	D	8	ENSP00000392854:E8D;ENSP00000316543:E8D;ENSP00000363617:E8D;ENSP00000363613:E8D;ENSP00000363612:E8D;ENSP00000311293:E8D;ENSP00000411138:E8D;ENSP00000390578:E8D;ENSP00000397751:E8D;ENSP00000406662:E8D;ENSP00000396711:E8D	ENSP00000311293:E8D	E	-	3	2	RAPH1	204068298	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.842000	0.27627	1.036000	0.39998	0.459000	0.35465	GAA	RAPH1	-	NULL		0.393	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2	T	NM_025252		204360053	-1	no_errors	ENST00000374493	ensembl	human	known	70_37	missense	SNP	1.000	G
RARB	5915	genome.wustl.edu	37	3	25636077	25636077	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:25636077A>C	ENST00000404969.1	+	7	1079	c.1079A>C	c.(1078-1080)aAa>aCa	p.K360T	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.K241T|RARB_ENST00000330688.4_Missense_Mutation_p.K353T|RARB_ENST00000437042.2_Missense_Mutation_p.K241T			P10826	RARB_HUMAN	retinoic acid receptor, beta	360	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAAGCACTAAAAATTTATATC	0.393																																																	0													84.0	86.0	85.0					3																	25636077		2203	4300	6503	SO:0001583	missense	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1079A>C	3.37:g.25636077A>C	ENSP00000385865:p.Lys360Thr		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.K360T	ENST00000404969.1	37	c.1079		3	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864648	0.91511	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09	5.17	5.17	0.71159	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97807	0.9280	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.83275	0.993;0.996	D	0.98748	1.0719	10	0.87932	D	0	.	15.2983	0.73928	1.0:0.0:0.0:0.0	.	360;353	P10826;F1D8S6	RARB_HUMAN;.	T	360;360;360;241;353;241	ENSP00000373282:K360T;ENSP00000385865:K360T;ENSP00000398840:K241T;ENSP00000332296:K353T;ENSP00000391391:K241T	ENSP00000332296:K353T	K	+	2	0	RARB	25611081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.076000	0.62316	0.482000	0.46254	AAA	RARB	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4		0.393	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		A	NM_000965, NM_016152		25636077	+1	no_errors	ENST00000404969	ensembl	human	known	70_37	missense	SNP	1.000	C
RASA1	5921	genome.wustl.edu	37	5	86658380	86658380	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:86658380G>T	ENST00000274376.6	+	10	1909	c.1345G>T	c.(1345-1347)Gta>Tta	p.V449L	RASA1_ENST00000456692.2_Missense_Mutation_p.V272L|RASA1_ENST00000512763.1_Missense_Mutation_p.V282L|RASA1_ENST00000506290.1_Missense_Mutation_p.V283L	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	449					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCAAGAACAAGTACTCAATGA	0.289																																																	0													64.0	68.0	66.0					5																	86658380		2203	4297	6500	SO:0001583	missense	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1345G>T	5.37:g.86658380G>T	ENSP00000274376:p.Val449Leu		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.V449L	ENST00000274376.6	37	c.1345	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483452	0.84854	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.28	5.28	0.74379	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.14012	0.009;0.002;0.002;0.0;0.008	B;B;B;B;B	0.09377	0.004;0.001;0.001;0.001;0.003	T	0.71210	-0.4660	10	0.18276	T	0.48	.	14.5032	0.67737	0.0731:0.0:0.9269:0.0	.	283;282;283;272;449	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	L	449;482;272;282;283	ENSP00000274376:V449L;ENSP00000411221:V272L;ENSP00000422008:V282L;ENSP00000420905:V283L	ENSP00000274376:V449L	V	+	1	0	RASA1	86694136	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.888000	0.87302	2.614000	0.88457	0.455000	0.32223	GTA	RASA1	-	NULL		0.289	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	G	NM_002890		86658380	+1	no_errors	ENST00000274376	ensembl	human	known	70_37	missense	SNP	1.000	T
RASA3	22821	genome.wustl.edu	37	13	114751116	114751116	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:114751116T>C	ENST00000334062.7	-	23	2520	c.2399A>G	c.(2398-2400)gAc>gGc	p.D800G	RASA3_ENST00000389544.4_Missense_Mutation_p.D768G	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	800					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTTGAACTTGTCCCTCTTATA	0.587																																																	0													274.0	247.0	256.0					13																	114751116		2203	4300	6503	SO:0001583	missense	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2399A>G	13.37:g.114751116T>C	ENSP00000335029:p.Asp800Gly		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.D800G	ENST00000334062.7	37	c.2399	CCDS32016.1	13	.	.	.	.	.	.	.	.	.	.	T	13.21	2.170518	0.38315	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.85955	-1.94;-2.05	4.89	4.89	0.63831	.	0.150554	0.56097	D	0.000021	D	0.83101	0.5181	L	0.57536	1.79	0.80722	D	1	P	0.34546	0.456	B	0.38616	0.277	T	0.79759	-0.1668	10	0.17369	T	0.5	.	14.5325	0.67936	0.0:0.0:0.0:1.0	.	800	Q14644	RASA3_HUMAN	G	800;768	ENSP00000335029:D800G;ENSP00000374195:D768G	ENSP00000335029:D800G	D	-	2	0	RASA3	113769218	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	7.065000	0.76727	1.835000	0.53391	0.402000	0.26972	GAC	RASA3	-	NULL		0.587	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	T	NM_007368		114751116	-1	no_errors	ENST00000334062	ensembl	human	known	70_37	missense	SNP	1.000	C
RASAL2	9462	genome.wustl.edu	37	1	178061994	178061994	+	5'Flank	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:178061994A>C	ENST00000367649.3	+	0	0				RASAL2_ENST00000448150.3_5'Flank|RASAL2-AS1_ENST00000421505.1_lincRNA			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2						negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAAGGTATTAAAAATAGCAAC	0.413																																																	0																																										SO:0001631	upstream_gene_variant	100302401			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022		1.37:g.178061994A>C	Exception_encountered		F8W755|O95174|Q2TB22|Q5TFU9	RNA	SNP	-	NULL	ENST00000367649.3	37	NULL	CCDS1321.2	1																																																																																			RASAL2-AS1	-	-		0.413	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASAL2-AS1	HGNC	protein_coding	OTTHUMT00000352415.1	A	NM_170692		178061994	-1	no_errors	ENST00000419458	ensembl	human	known	70_37	rna	SNP	0.002	C
RASAL3	64926	genome.wustl.edu	37	19	15563952	15563952	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:15563952T>C	ENST00000343625.7	-	15	2721	c.2636A>G	c.(2635-2637)aAc>aGc	p.N879S		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	879					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGTGCCTGGTTTCGGTCTTG	0.692																																																	0													54.0	56.0	55.0					19																	15563952		2043	4183	6226	SO:0001583	missense	64926				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.2636A>G	19.37:g.15563952T>C	ENSP00000341905:p.Asn879Ser		Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP	p.N879S	ENST00000343625.7	37	c.2636	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	T	8.303	0.820279	0.16678	.	.	ENSG00000105122	ENST00000343625	T	0.24151	1.87	4.57	4.57	0.56435	.	0.524687	0.17030	N	0.189757	T	0.12135	0.0295	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.004	B;B	0.14023	0.01;0.005	T	0.25433	-1.0132	10	0.12430	T	0.62	.	10.292	0.43601	0.0:0.0:0.0:1.0	.	879;879	Q86YV0-2;Q86YV0	.;RASL3_HUMAN	S	879	ENSP00000341905:N879S	ENSP00000341905:N879S	N	-	2	0	RASAL3	15424952	0.006000	0.16342	0.055000	0.19348	0.006000	0.05464	1.775000	0.38584	1.687000	0.51057	0.482000	0.46254	AAC	RASAL3	-	NULL		0.692	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	T	NM_022904		15563952	-1	no_errors	ENST00000343625	ensembl	human	known	70_37	missense	SNP	0.065	C
EIF2D	1939	genome.wustl.edu	37	1	206762592	206762592	+	IGR	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:206762592C>T	ENST00000271764.2	-	0	2094				EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000304534.8_3'UTR|RASSF5_ENST00000491368.1_3'UTR	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D						formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTAATAAAAGCCTGTTGCAAA	0.393																																																	0																																										SO:0001628	intergenic_variant	83593			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619		1.37:g.206762592C>T			Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	RNA	SNP	-	NULL	ENST00000271764.2	37	NULL	CCDS1465.1	1																																																																																			RASSF5	-	-		0.393	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088475.1	C	NM_006893		206762592	+1	no_errors	ENST00000481486	ensembl	human	putative	70_37	rna	SNP	1.000	T
RASSF8	11228	genome.wustl.edu	37	12	26217828	26217828	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:26217828G>T	ENST00000405154.2	+	3	700	c.501G>T	c.(499-501)aaG>aaT	p.K167N	RASSF8_ENST00000381352.3_Missense_Mutation_p.K167N|RASSF8_ENST00000282884.9_Missense_Mutation_p.K167N|RASSF8_ENST00000541490.1_Missense_Mutation_p.K167N|RASSF8_ENST00000542865.1_Missense_Mutation_p.K167N	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	167					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATGAGTTGAAGAAGCTAATCC	0.368																																																	0													63.0	64.0	64.0					12																	26217828		2203	4300	6503	SO:0001583	missense	11228			U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.501G>T	12.37:g.26217828G>T	ENSP00000384491:p.Lys167Asn		A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.K167N	ENST00000405154.2	37	c.501	CCDS53765.1	12	.	.	.	.	.	.	.	.	.	.	G	9.234	1.036456	0.19669	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000541218;ENST00000282884	T;T;T;T;T;T;T	0.43688	1.55;1.56;1.56;1.56;0.94;0.94;1.56	4.79	2.89	0.33648	.	0.601929	0.18912	N	0.127726	T	0.29126	0.0724	L	0.36672	1.1	0.37172	D	0.903097	B;B	0.23990	0.095;0.037	B;B	0.18871	0.023;0.011	T	0.15521	-1.0434	10	0.17832	T	0.49	-15.9075	10.3213	0.43767	0.1753:0.0:0.8247:0.0	.	167;167	Q8NHQ8-2;Q8NHQ8	.;RASF8_HUMAN	N	167	ENSP00000370756:K167N;ENSP00000384491:K167N;ENSP00000439839:K167N;ENSP00000443096:K167N;ENSP00000442485:K167N;ENSP00000445970:K167N;ENSP00000282884:K167N	ENSP00000282884:K167N	K	+	3	2	RASSF8	26109095	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	5.053000	0.64269	1.127000	0.42034	0.563000	0.77884	AAG	RASSF8	-	NULL		0.368	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF8	HGNC	protein_coding	OTTHUMT00000402209.2	G	NM_007211		26217828	+1	no_errors	ENST00000282884	ensembl	human	known	70_37	missense	SNP	1.000	T
RB1CC1	9821	genome.wustl.edu	37	8	53573785	53573785	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:53573785A>C	ENST00000025008.5	-	10	1938	c.1415T>G	c.(1414-1416)tTg>tGg	p.L472W	RB1CC1_ENST00000435644.2_Missense_Mutation_p.L472W|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L472W|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	472					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GAGGCGGAGCAAAGCTTGTAA	0.383																																					GBM(180;1701 2102 13475 42023 52570)												0													90.0	84.0	86.0					8																	53573785		2203	4300	6503	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1415T>G	8.37:g.53573785A>C	ENSP00000025008:p.Leu472Trp		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	pfam_Autophagy-rel_p11	p.L472W	ENST00000025008.5	37	c.1415	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384640	0.61845	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.17854	2.25;2.25;2.25	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000004	T	0.40119	0.1104	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.15178	-1.0446	10	0.54805	T	0.06	-8.0258	15.6626	0.77199	1.0:0.0:0.0:0.0	.	472;472	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	W	472	ENSP00000025008:L472W;ENSP00000396067:L472W;ENSP00000445960:L472W	ENSP00000025008:L472W	L	-	2	0	RB1CC1	53736338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.257000	0.95545	2.161000	0.67846	0.528000	0.53228	TTG	RB1CC1	-	NULL		0.383	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	A	NM_014781		53573785	-1	no_errors	ENST00000025008	ensembl	human	known	70_37	missense	SNP	1.000	C
RBFOX1	54715	genome.wustl.edu	37	16	6367009	6367009	+	5'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:6367009G>T	ENST00000550418.1	+	0	876				RP11-420N3.2_ENST00000569895.1_RNA|RBFOX1_ENST00000547372.1_Missense_Mutation_p.R6I|RBFOX1_ENST00000553186.1_5'UTR|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R6I	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ACTGGTCAAAGAACTCATGCA	0.358																																					Ovarian(157;934 2567 15163 39509)												0																																										SO:0001623	5_prime_UTR_variant	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.-113G>T	16.37:g.6367009G>T			Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.R6I	ENST00000550418.1	37	c.17	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830683	0.50845	.	.	ENSG00000078328	ENST00000547372;ENST00000422070	T;T	0.33654	1.4;1.59	5.57	3.4	0.38934	.	.	.	.	.	T	0.24586	0.0596	.	.	.	0.80722	D	1	B	0.28512	0.214	B	0.17433	0.018	T	0.16453	-1.0402	8	0.87932	D	0	.	4.5448	0.12076	0.3439:0.0:0.6561:0.0	.	6	B7Z1U7	.	I	6	ENSP00000446842:R6I;ENSP00000391269:R6I	ENSP00000391269:R6I	R	+	2	0	RBFOX1	6307010	1.000000	0.71417	0.882000	0.34594	0.962000	0.63368	2.448000	0.44926	1.347000	0.45714	0.650000	0.86243	AGA	RBFOX1	-	NULL		0.358	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	G	NM_145891		6367009	+1	no_errors	ENST00000547372	ensembl	human	known	70_37	missense	SNP	0.967	T
RBM15	64783	genome.wustl.edu	37	1	110889277	110889277	+	3'UTR	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:110889277T>C	ENST00000369784.3	+	0	4222				RBM15_ENST00000487146.2_3'UTR	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15						negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTATTCTAAATAAATTGTTTC	0.423			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0																																										SO:0001624	3_prime_UTR_variant	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.*388T>C	1.37:g.110889277T>C			A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	RNA	SNP	-	NULL	ENST00000369784.3	37	NULL	CCDS822.1	1																																																																																			RBM15	-	-		0.423	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	T	NM_022768		110889277	+1	no_errors	ENST00000487146	ensembl	human	known	70_37	rna	SNP	1.000	C
RBM27	54439	genome.wustl.edu	37	5	145648833	145648833	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:145648833G>T	ENST00000265271.5	+	16	2681	c.2515G>T	c.(2515-2517)Gaa>Taa	p.E839*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.E784*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	839					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGCAAATAGAATGCCAAAA	0.264																																																	0													99.0	99.0	99.0					5																	145648833		1568	3581	5149	SO:0001587	stop_gained	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2515G>T	5.37:g.145648833G>T	ENSP00000265271:p.Glu839*		Q8IYW9	Nonsense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.E839*	ENST00000265271.5	37	c.2515	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.381582	0.98248	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-17.1422	19.6974	0.96031	0.0:0.0:1.0:0.0	.	.	.	.	X	839	.	ENSP00000265271:E839X	E	+	1	0	RBM27	145629026	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	7.274000	0.78538	2.650000	0.89964	0.655000	0.94253	GAA	RBM27	-	NULL		0.264	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	G	XM_291128		145648833	+1	no_errors	ENST00000265271	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RBM45	129831	genome.wustl.edu	37	2	178982797	178982797	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:178982797G>A	ENST00000286070.5	+	3	531	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	147	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TGGAGATATCGAGTATTGCAG	0.328																																																	0													89.0	91.0	90.0					2																	178982797		2203	4300	6503	SO:0001583	missense	129831			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.439G>A	2.37:g.178982797G>A	ENSP00000286070:p.Glu147Lys		Q6NYL0|Q8NFC9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E147K	ENST00000286070.5	37	c.439	CCDS33335.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.433047	0.96150	.	.	ENSG00000155636	ENST00000286070	D	0.86769	-2.17	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	L	0.35644	1.08	0.80722	D	1	D	0.61697	0.99	P	0.48334	0.574	D	0.87771	0.2605	10	0.66056	D	0.02	-18.6616	18.3967	0.90501	0.0:0.0:1.0:0.0	.	147	Q8IUH3-3	.	K	147	ENSP00000286070:E147K	ENSP00000286070:E147K	E	+	1	0	RBM45	178691043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.614000	0.98353	2.579000	0.87056	0.557000	0.71058	GAG	RBM45	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.328	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM45	HGNC	protein_coding	OTTHUMT00000334375.2	G	NM_152945		178982797	+1	no_errors	ENST00000286070	ensembl	human	known	70_37	missense	SNP	1.000	A
RBM44	375316	genome.wustl.edu	37	2	238725989	238725989	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:238725989G>T	ENST00000409864.1	+	3	684	c.430G>T	c.(430-432)Gtt>Ttt	p.V144F	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.V144F			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	143						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.N147fs*1(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAAAGAGGAGGTTTTTTTTAA	0.308																																																	2	Insertion - Frameshift(2)	large_intestine(2)											25.0	25.0	25.0					2																	238725989		1797	4060	5857	SO:0001583	missense	375316			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.430G>T	2.37:g.238725989G>T	ENSP00000386727:p.Val144Phe		A0AUW3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V144F	ENST00000409864.1	37	c.430	CCDS46554.1	2	.	.	.	.	.	.	.	.	.	.	G	2.744	-0.261642	0.05791	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.32023	1.47;1.47	5.47	-10.9	0.00192	.	2.588180	0.01081	N	0.004995	T	0.15522	0.0374	L	0.27053	0.805	0.09310	N	1	B	0.26318	0.146	B	0.25405	0.06	T	0.15206	-1.0445	10	0.56958	D	0.05	4.4096	1.3262	0.02126	0.3163:0.1852:0.3253:0.1732	.	143	Q6ZP01	RBM44_HUMAN	F	144	ENSP00000321179:V144F;ENSP00000386727:V144F	ENSP00000321179:V144F	V	+	1	0	RBM44	238390728	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.759000	0.01808	-2.028000	0.00931	-1.034000	0.02401	GTT	RBM44	-	NULL		0.308	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	HGNC	protein_coding	OTTHUMT00000328733.2	G	NM_001080504		238725989	+1	no_errors	ENST00000316997	ensembl	human	known	70_37	missense	SNP	0.000	T
RBM7	10179	genome.wustl.edu	37	11	114278508	114278508	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:114278508A>C	ENST00000540163.1	+	5	1422	c.780A>C	c.(778-780)aaA>aaC	p.K260N	RBM7_ENST00000541475.1_3'UTR|RBM7_ENST00000375490.5_Missense_Mutation_p.K261N|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000545678.1_Missense_Mutation_p.K140N			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	260					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GAGATGGAAAATGGCGCTCAT	0.363																																																	0													85.0	80.0	82.0					11																	114278508		2201	4296	6497	SO:0001583	missense	10179			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.780A>C	11.37:g.114278508A>C	ENSP00000439918:p.Lys260Asn		B2R6K8|Q9NUT4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K260N	ENST00000540163.1	37	c.780	CCDS8370.1	11	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305974	0.60305	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000545678	T;T	0.32753	1.44;2.44	5.66	2.15	0.27550	.	0.158829	0.53938	D	0.000045	T	0.21631	0.0521	L	0.44542	1.39	0.29195	N	0.875608	P;P	0.49090	0.919;0.842	B;B	0.40256	0.324;0.185	T	0.17410	-1.0370	10	0.72032	D	0.01	-19.807	5.196	0.15239	0.6246:0.143:0.2324:0.0	.	260;260	Q6IRX3;Q9Y580	.;RBM7_HUMAN	N	260;261;140	ENSP00000439918:K260N;ENSP00000364639:K261N	ENSP00000364639:K261N	K	+	3	2	RBM7	113783718	0.995000	0.38212	0.998000	0.56505	0.979000	0.70002	0.213000	0.17521	0.119000	0.18210	0.477000	0.44152	AAA	RBM7	-	NULL		0.363	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	RBM7	HGNC	protein_coding	OTTHUMT00000399010.1	A	NM_016090		114278508	+1	no_errors	ENST00000540163	ensembl	human	known	70_37	missense	SNP	0.998	C
RBMS3	27303	genome.wustl.edu	37	3	29781258	29781258	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:29781258T>G	ENST00000383767.2	+	5	783	c.447T>G	c.(445-447)atT>atG	p.I149M	RBMS3_ENST00000456853.1_Missense_Mutation_p.I149M|RBMS3_ENST00000452462.1_Missense_Mutation_p.I149M|RBMS3_ENST00000434693.2_Missense_Mutation_p.I148M|RBMS3_ENST00000273139.9_Missense_Mutation_p.I149M|RBMS3_ENST00000445033.1_Missense_Mutation_p.I149M|RBMS3_ENST00000396583.3_Missense_Mutation_p.I149M|RBMS3_ENST00000383766.2_Missense_Mutation_p.I148M			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	149	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				ATCTCCCCATTTCTATGGATG	0.408																																																	0													172.0	166.0	168.0					3																	29781258		2203	4300	6503	SO:0001583	missense	27303			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.447T>G	3.37:g.29781258T>G	ENSP00000373277:p.Ile149Met		A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.I149M	ENST00000383767.2	37	c.447	CCDS33724.1	3	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316330	0.40996	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.52	3.19	0.36642	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.062767	0.64402	D	0.000003	T	0.09555	0.0235	N	0.24115	0.695	0.35438	D	0.79461	B;B;B;B	0.16603	0.006;0.001;0.001;0.018	B;B;B;B	0.23018	0.015;0.015;0.009;0.043	T	0.19582	-1.0301	9	.	.	.	.	4.8881	0.13713	0.0:0.231:0.1494:0.6195	.	149;149;148;149	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	M	148;149;149;149;149;148;149;149	ENSP00000395592:I148M;ENSP00000379828:I149M;ENSP00000373277:I149M;ENSP00000391934:I149M;ENSP00000273139:I149M;ENSP00000373276:I148M;ENSP00000397926:I149M;ENSP00000400519:I149M	.	I	+	3	3	RBMS3	29756262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.680000	0.37607	0.945000	0.37605	0.460000	0.39030	ATT	RBMS3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA		0.408	RBMS3-001	KNOWN	basic|CCDS	protein_coding	RBMS3	HGNC	protein_coding	OTTHUMT00000341306.1	T	NM_001003792		29781258	+1	no_errors	ENST00000383767	ensembl	human	known	70_37	missense	SNP	1.000	G
RBMS3	27303	genome.wustl.edu	37	3	29781260	29781260	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:29781260C>A	ENST00000383767.2	+	5	785	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	RBMS3_ENST00000456853.1_Missense_Mutation_p.S150Y|RBMS3_ENST00000452462.1_Missense_Mutation_p.S150Y|RBMS3_ENST00000434693.2_Missense_Mutation_p.S149Y|RBMS3_ENST00000273139.9_Missense_Mutation_p.S150Y|RBMS3_ENST00000445033.1_Missense_Mutation_p.S150Y|RBMS3_ENST00000396583.3_Missense_Mutation_p.S150Y|RBMS3_ENST00000383766.2_Missense_Mutation_p.S149Y			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	150	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.S150Y(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CTCCCCATTTCTATGGATGAG	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											173.0	166.0	168.0					3																	29781260		2203	4300	6503	SO:0001583	missense	27303			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.449C>A	3.37:g.29781260C>A	ENSP00000373277:p.Ser150Tyr		A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.S150Y	ENST00000383767.2	37	c.449	CCDS33724.1	3	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161235	0.78226	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.75704	-0.96;2.27;-0.96;-0.96;-0.96;2.27;-0.96;2.27	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.80623	0.4658	M	0.62088	1.915	0.80722	D	1	B;B;B;B	0.34181	0.386;0.045;0.386;0.44	B;B;P;P	0.46237	0.374;0.268;0.474;0.508	T	0.76735	-0.2850	9	.	.	.	.	19.4311	0.94768	0.0:1.0:0.0:0.0	.	150;150;149;150	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	Y	149;150;150;150;150;149;150;150	ENSP00000395592:S149Y;ENSP00000379828:S150Y;ENSP00000373277:S150Y;ENSP00000391934:S150Y;ENSP00000273139:S150Y;ENSP00000373276:S149Y;ENSP00000397926:S150Y;ENSP00000400519:S150Y	.	S	+	2	0	RBMS3	29756264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.807000	0.86032	2.590000	0.87494	0.563000	0.77884	TCT	RBMS3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA		0.413	RBMS3-001	KNOWN	basic|CCDS	protein_coding	RBMS3	HGNC	protein_coding	OTTHUMT00000341306.1	C	NM_001003792		29781260	+1	no_errors	ENST00000383767	ensembl	human	known	70_37	missense	SNP	1.000	A
RC3H2	54542	genome.wustl.edu	37	9	125621235	125621235	+	Nonsense_Mutation	SNP	G	G	A	rs374715315		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:125621235G>A	ENST00000373670.1	-	11	2596	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	RC3H2_ENST00000423239.2_Nonsense_Mutation_p.R666*|RC3H2_ENST00000357244.2_Nonsense_Mutation_p.R666*			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	666	Pro-rich.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAATTCATTCGATCTCGAGGG	0.522																																																	0													121.0	128.0	126.0					9																	125621235		2042	4197	6239	SO:0001587	stop_gained	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1996C>T	9.37:g.125621235G>A	ENSP00000362774:p.Arg666*		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R666*	ENST00000373670.1	37	c.1996	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.144830	0.98675	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	.	.	.	5.62	5.62	0.85841	.	0.066403	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8191	16.8003	0.85612	0.0:0.0:1.0:0.0	.	.	.	.	X	666;666;537;666	.	ENSP00000349783:R666X	R	-	1	2	RC3H2	124661056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.931000	0.63469	2.634000	0.89283	0.655000	0.94253	CGA	RC3H2	-	NULL		0.522	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	G	NM_018835		125621235	-1	no_errors	ENST00000357244	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RCAN2	10231	genome.wustl.edu	37	6	46214590	46214590	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:46214590G>T	ENST00000330430.6	-	3	516	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	RCAN2_ENST00000371374.1_Missense_Mutation_p.L156I|RCAN2_ENST00000405162.1_Missense_Mutation_p.L156I|RCAN2_ENST00000306764.7_Missense_Mutation_p.L156I	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	110					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGCGAGATGAGAAACTGTTTG	0.522																																																	0													72.0	79.0	77.0					6																	46214590		1977	4145	6122	SO:0001583	missense	10231			D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.328C>A	6.37:g.46214590G>T	ENSP00000329454:p.Leu110Ile		A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Missense_Mutation	SNP	pfam_Calcipressin	p.L156I	ENST00000330430.6	37	c.466	CCDS43469.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.146356	0.94603	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82719	0.5098	M	0.87547	2.89	0.80722	D	1	D;D	0.76494	0.988;0.999	D;D	0.80764	0.944;0.994	D	0.85054	0.0930	9	0.87932	D	0	-14.777	18.8222	0.92102	0.0:0.0:1.0:0.0	.	156;110	Q14206-2;Q14206	.;RCAN2_HUMAN	I	110;156;156;156	.	ENSP00000305223:L156I	L	-	1	0	RCAN2	46322549	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.378000	0.97191	2.703000	0.92315	0.585000	0.79938	CTC	RCAN2	-	pfam_Calcipressin		0.522	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN2	HGNC	protein_coding	OTTHUMT00000040782.1	G			46214590	-1	no_errors	ENST00000306764	ensembl	human	known	70_37	missense	SNP	1.000	T
RCSD1	92241	genome.wustl.edu	37	1	167666419	167666419	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:167666419T>C	ENST00000367854.3	+	6	889	c.558T>C	c.(556-558)gaT>gaC	p.D186D	RCSD1_ENST00000537350.1_Silent_p.D156D	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	186					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AACTTGGAGATTTCAGGGCGG	0.542																																																	0													77.0	74.0	75.0					1																	167666419		2203	4300	6503	SO:0001819	synonymous_variant	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.558T>C	1.37:g.167666419T>C			B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Silent	SNP	pfam_RCSD	p.D186	ENST00000367854.3	37	c.558	CCDS1263.1	1																																																																																			RCSD1	-	NULL		0.542	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1	T	NM_052862		167666419	+1	no_errors	ENST00000367854	ensembl	human	known	70_37	silent	SNP	0.000	C
RDX	5962	genome.wustl.edu	37	11	110124692	110124692	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:110124692T>G	ENST00000343115.4	-	9	1257	c.938A>C	c.(937-939)aAa>aCa	p.K313T	RDX_ENST00000405097.1_Missense_Mutation_p.K313T|RDX_ENST00000528498.1_Missense_Mutation_p.K313T|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.K177T	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	313	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTCTGATGTTTCTCCTCCCT	0.383																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												0													122.0	107.0	112.0					11																	110124692		2201	4298	6499	SO:0001583	missense	5962			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.938A>C	11.37:g.110124692T>G	ENSP00000342830:p.Lys313Thr		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.K313T	ENST00000343115.4	37	c.938	CCDS8343.1	11	.	.	.	.	.	.	.	.	.	.	T	32	5.161299	0.94727	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.64940	0.2644	M	0.90922	3.16	0.80722	D	1	P;D;D	0.76494	0.945;0.999;0.965	D;D;P	0.91635	0.945;0.999;0.843	T	0.73997	-0.3806	10	0.87932	D	0	.	16.0055	0.80359	0.0:0.0:0.0:1.0	.	177;313;313	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	T	313;313;313;313;177	ENSP00000432112:K313T;ENSP00000384136:K313T;ENSP00000342830:K313T;ENSP00000445826:K177T	ENSP00000342830:K313T	K	-	2	0	RDX	109629902	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	7.986000	0.88173	2.184000	0.69523	0.533000	0.62120	AAA	RDX	-	pirsf_ERM		0.383	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2	T	NM_002906		110124692	-1	no_errors	ENST00000530749	ensembl	human	known	70_37	missense	SNP	1.000	G
RECQL	5965	genome.wustl.edu	37	12	21643286	21643286	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:21643286C>A	ENST00000444129.2	-	4	709	c.241G>T	c.(241-243)Gat>Tat	p.D81Y	RECQL_ENST00000421138.2_Missense_Mutation_p.D81Y	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	81					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TGCAGAATATCTTTAACTTTA	0.328								Other identified genes with known or suspected DNA repair function																																									0													73.0	76.0	75.0					12																	21643286		2203	4300	6503	SO:0001583	missense	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.241G>T	12.37:g.21643286C>A	ENSP00000416739:p.Asp81Tyr		A8K6G2	Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.D81Y	ENST00000444129.2	37	c.241	CCDS31756.1	12	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987163	0.35036	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432;ENST00000536240;ENST00000536964	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.18;-0.18;-0.18;0.88	5.29	3.44	0.39384	.	0.501697	0.22648	N	0.057364	T	0.69124	0.3076	M	0.64997	1.995	0.30208	N	0.797994	B	0.18013	0.025	B	0.14023	0.01	T	0.66881	-0.5811	10	0.62326	D	0.03	-17.6064	9.4294	0.38601	0.0:0.7456:0.1189:0.1355	.	81	P46063	RECQ1_HUMAN	Y	81	ENSP00000416739:D81Y;ENSP00000395449:D81Y;ENSP00000379400:D81Y;ENSP00000318727:D81Y;ENSP00000445555:D81Y;ENSP00000439069:D81Y	ENSP00000318727:D81Y	D	-	1	0	RECQL	21534553	0.977000	0.34250	1.000000	0.80357	0.985000	0.73830	1.576000	0.36504	0.694000	0.31654	-0.157000	0.13467	GAT	RECQL	-	tigrfam_DNA_helicase_ATP-dep_RecQ		0.328	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	C	NM_002907		21643286	-1	no_errors	ENST00000421138	ensembl	human	known	70_37	missense	SNP	0.676	A
REEP6	92840	genome.wustl.edu	37	19	1496287	1496287	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:1496287G>A	ENST00000233596.3	+	4	456	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	118					regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CCTGCAGTGCGCCTTCCTGTT	0.672																																																	0													70.0	56.0	61.0					19																	1496287		2202	4299	6501	SO:0001583	missense	92840			BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"""Receptor accessory proteins"""	30078	protein-coding gene	gene with protein product	"""polyposis locus protein 1-like 1"", ""deleted in polyposis 1-like 1"""	609346	"""chromosome 19 open reading frame 32"""	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.352G>A	19.37:g.1496287G>A	ENSP00000233596:p.Ala118Thr		B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.A118T	ENST00000233596.3	37	c.352	CCDS12070.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.24|12.24	1.878099|1.878099	0.33162|0.33162	.|.	.|.	ENSG00000115255|ENSG00000115255	ENST00000233596;ENST00000395479|ENST00000395484	T|.	0.42131|.	0.98|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|.	.|.	.|.	.|.	T|T	0.58680|0.58680	0.2139|0.2139	M|M	0.78344|0.78344	2.41|2.41	0.22305|0.22305	N|N	0.999213|0.999213	D|.	0.57257|.	0.979|.	P|.	0.55965|.	0.788|.	T|T	0.56739|0.56739	-0.7929|-0.7929	9|6	0.46703|0.66056	T|D	0.11|0.02	-9.4907|-9.4907	8.3875|8.3875	0.32510|0.32510	0.0:0.1455:0.5692:0.2853|0.0:0.1455:0.5692:0.2853	.|.	118|.	Q96HR9|.	REEP6_HUMAN|.	T|H	118|185	ENSP00000233596:A118T|.	ENSP00000233596:A118T|ENSP00000378865:R185H	A|R	+|+	1|2	0|0	REEP6|REEP6	1447287|1447287	0.516000|0.516000	0.26218|0.26218	1.000000|1.000000	0.80357|0.80357	0.118000|0.118000	0.20060|0.20060	-0.018000|-0.018000	0.12568|0.12568	2.318000|2.318000	0.78349|0.78349	0.552000|0.552000	0.68991|0.68991	GCC|CGC	REEP6	-	pfam_TB2_DP1_HVA22		0.672	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP6	HGNC	protein_coding	OTTHUMT00000449623.1	G	NM_138393		1496287	+1	no_errors	ENST00000233596	ensembl	human	known	70_37	missense	SNP	0.969	A
RELB	5971	genome.wustl.edu	37	19	45506232	45506232	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:45506232G>A	ENST00000221452.8	+	2	282	c.132G>A	c.(130-132)tcG>tcA	p.S44S	RELB_ENST00000505236.1_Silent_p.S44S|RELB_ENST00000540120.1_Silent_p.S44S	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	44	Leucine-zipper.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CCTCACTCTCGCTCGCCGTTT	0.602																																																	0													43.0	48.0	46.0					19																	45506232		2003	4178	6181	SO:0001819	synonymous_variant	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.132G>A	19.37:g.45506232G>A			Q6GTX7|Q9UEI7	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.S44	ENST00000221452.8	37	c.132	CCDS46110.1	19																																																																																			RELB	-	NULL		0.602	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	G			45506232	+1	no_errors	ENST00000221452	ensembl	human	known	70_37	silent	SNP	0.086	A
RELN	5649	genome.wustl.edu	37	7	103214561	103214561	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:103214561G>T	ENST00000428762.1	-	30	4648	c.4489C>A	c.(4489-4491)Cct>Act	p.P1497T	RELN_ENST00000343529.5_Missense_Mutation_p.P1497T|RELN_ENST00000424685.2_Missense_Mutation_p.P1497T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1497					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGTCCAGAGGGACCGTCCGG	0.433																																					NSCLC(146;835 1944 15585 22231 52158)												0													111.0	112.0	112.0					7																	103214561		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4489C>A	7.37:g.103214561G>T	ENSP00000392423:p.Pro1497Thr		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.P1497T	ENST00000428762.1	37	c.4489	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265097	0.80358	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24723	1.84;1.84;1.84	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	L	0.55481	1.735	0.49687	D	0.999811	P;P	0.41546	0.68;0.754	P;B	0.47705	0.555;0.249	T	0.04855	-1.0922	10	0.66056	D	0.02	.	15.5021	0.75705	0.0:0.1378:0.8622:0.0	.	1497;1497	P78509-2;P78509	.;RELN_HUMAN	T	1497	ENSP00000392423:P1497T;ENSP00000345694:P1497T;ENSP00000388446:P1497T	ENSP00000345694:P1497T	P	-	1	0	RELN	103001797	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.423000	0.80229	2.809000	0.96659	0.655000	0.94253	CCT	RELN	-	NULL		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	G	NM_005045		103214561	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	missense	SNP	1.000	T
RERE	473	genome.wustl.edu	37	1	8415034	8415034	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:8415034G>T	ENST00000337907.3	-	0	5448				RERE_ENST00000400907.2_3'UTR|RERE_ENST00000377464.1_3'UTR|RERE_ENST00000400908.2_3'UTR|RERE_ENST00000476556.1_3'UTR	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats						chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AATATATAAAGAAATCTTTAG	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.*113C>A	1.37:g.8415034G>T			O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	RNA	SNP	-	NULL	ENST00000337907.3	37	NULL	CCDS95.1	1																																																																																			RERE	-	-		0.383	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	G			8415034	-1	no_errors	ENST00000467350	ensembl	human	known	70_37	rna	SNP	1.000	T
RFC5	5985	genome.wustl.edu	37	12	118467597	118467597	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:118467597G>A	ENST00000454402.2	+	10	1011	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000392542.2_Missense_Mutation_p.R277Q|RFC5_ENST00000229043.3_Missense_Mutation_p.R213Q	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	298					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTTCAGTTCGAATACATTTA	0.363																																																	0													253.0	230.0	238.0					12																	118467597		2203	4300	6503	SO:0001583	missense	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.893G>A	12.37:g.118467597G>A	ENSP00000408295:p.Arg298Gln		A8MZ62|B3KSX8	Missense_Mutation	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.R298Q	ENST00000454402.2	37	c.893	CCDS9185.1	12	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145368	0.77888	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.48201	0.82;0.82;0.82	4.97	4.97	0.65823	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.089768	0.53938	D	0.000047	T	0.44973	0.1319	M	0.64260	1.97	0.58432	D	0.999998	P;P;P	0.49253	0.921;0.921;0.921	B;B;B	0.36608	0.229;0.229;0.229	T	0.54146	-0.8337	10	0.49607	T	0.09	-3.6726	17.5331	0.87819	0.0:0.0:1.0:0.0	.	277;309;298	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	Q	213;298;277	ENSP00000229043:R213Q;ENSP00000408295:R298Q;ENSP00000376325:R277Q	ENSP00000229043:R213Q	R	+	2	0	RFC5	116951980	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.285000	0.78660	2.735000	0.93741	0.655000	0.94253	CGA	RFC5	-	pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C		0.363	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2	G	NM_007370		118467597	+1	no_errors	ENST00000454402	ensembl	human	known	70_37	missense	SNP	1.000	A
RFPL2	10739	genome.wustl.edu	37	22	32587262	32587262	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:32587262G>A	ENST00000400237.1	-	5	1569	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	RFPL2_ENST00000248983.4_Missense_Mutation_p.R122C|RFPL2_ENST00000248980.4_Missense_Mutation_p.R151C|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Missense_Mutation_p.R122C			O75678	RFPL2_HUMAN	ret finger protein-like 2	212	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGTCTGATGCGCCCACTTCGG	0.542																																																	0													138.0	125.0	130.0					22																	32587262		2203	4300	6503	SO:0001583	missense	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.634C>T	22.37:g.32587262G>A	ENSP00000383096:p.Arg212Cys			Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.R212C	ENST00000400237.1	37	c.634	CCDS43009.2	22	.	.	.	.	.	.	.	.	.	.	G	4.481	0.089149	0.08583	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	0.351	0.351	0.16042	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.09335	0.0230	L	0.49455	1.56	0.09310	N	1	B;B	0.16396	0.017;0.0	B;B	0.18561	0.022;0.002	T	0.33163	-0.9879	9	0.38643	T	0.18	.	4.0321	0.09713	1.0E-4:0.4602:0.5397:1.0E-4	.	212;151	O75678;O75678-3	RFPL2_HUMAN;.	C	151;122;122;212	ENSP00000248980:R151C;ENSP00000248983:R122C;ENSP00000383095:R122C;ENSP00000383096:R212C	ENSP00000248980:R151C	R	-	1	0	RFPL2	30917262	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.032000	0.12266	0.399000	0.25367	0.404000	0.27445	CGC	RFPL2	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.542	RFPL2-001	KNOWN	basic|CCDS	protein_coding	RFPL2	HGNC	protein_coding	OTTHUMT00000075262.2	G	NM_006605		32587262	-1	no_errors	ENST00000400237	ensembl	human	known	70_37	missense	SNP	0.000	A
RFTN2	130132	genome.wustl.edu	37	2	198480650	198480650	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:198480650G>A	ENST00000295049.4	-	7	1640	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	368					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.F368F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GAAGCCATCCGAATTCAGCCA	0.403																																																	1	Substitution - coding silent(1)	large_intestine(1)											88.0	73.0	78.0					2																	198480650		2201	4289	6490	SO:0001819	synonymous_variant	130132			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1104C>T	2.37:g.198480650G>A			Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Silent	SNP	NULL	p.F368	ENST00000295049.4	37	c.1104	CCDS2323.1	2																																																																																			RFTN2	-	NULL		0.403	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFTN2	HGNC	protein_coding	OTTHUMT00000256106.2	G	NM_144629		198480650	-1	no_errors	ENST00000295049	ensembl	human	known	70_37	silent	SNP	0.996	A
RFX5	5993	genome.wustl.edu	37	1	151315475	151315475	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:151315475G>T	ENST00000290524.4	-	11	1216	c.1038C>A	c.(1036-1038)gtC>gtA	p.V346V	RFX5_ENST00000452513.2_Silent_p.V306V|RFX5_ENST00000478564.1_5'Flank|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Silent_p.V346V|RFX5_ENST00000368870.2_Silent_p.V346V	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	346					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAGGTGGAGAGACTGGGATTG	0.627																																																	0													28.0	34.0	32.0					1																	151315475		2201	4300	6501	SO:0001819	synonymous_variant	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1038C>A	1.37:g.151315475G>T			B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	pfam_DNA-bd_RFX	p.V346	ENST00000290524.4	37	c.1038	CCDS994.1	1																																																																																			RFX5	-	NULL		0.627	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6	G	NM_000449		151315475	-1	no_errors	ENST00000290524	ensembl	human	known	70_37	silent	SNP	0.997	T
RFX7	64864	genome.wustl.edu	37	15	56387634	56387634	+	Silent	SNP	G	G	T	rs376497617		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:56387634G>T	ENST00000559447.2	-	9	2272	c.2001C>A	c.(1999-2001)gtC>gtA	p.V667V	RFX7_ENST00000422057.1_Silent_p.V667V|RFX7_ENST00000317318.6_Silent_p.V764V|RFX7_ENST00000423270.1_Silent_p.V764V			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	667					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCAAGAGAAAGACACTTCCTT	0.393																																																	0													115.0	104.0	107.0					15																	56387634		1871	4096	5967	SO:0001819	synonymous_variant	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2001C>A	15.37:g.56387634G>T			Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	pfam_DNA-bd_RFX	p.V764	ENST00000559447.2	37	c.2292		15																																																																																			RFX7	-	NULL		0.393	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	G	NM_022841		56387634	-1	no_errors	ENST00000423270	ensembl	human	known	70_37	silent	SNP	0.996	T
RGAG1	57529	genome.wustl.edu	37	X	109696047	109696047	+	Silent	SNP	G	G	A	rs377652967		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:109696047G>A	ENST00000465301.2	+	3	2448	c.2202G>A	c.(2200-2202)tcG>tcA	p.S734S	RGAG1_ENST00000540313.1_Silent_p.S734S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	734										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTCCATGTCGCCCATGAAGT	0.522													G|||	1	0.000264901	0.0	0.0014	3775	,	,		17351	0.0		0.0	False		,,,				2504	0.0																0								G		0,3835		0,0,1632,571	148.0	125.0	133.0		2202	-8.8	0.0	X		133	1,6727		0,1,2427,1872	no	coding-synonymous	RGAG1	NM_020769.2		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		734/1389	109696047	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2202G>A	X.37:g.109696047G>A			Q9P2M8	Silent	SNP	NULL	p.S734	ENST00000465301.2	37	c.2202	CCDS14552.1	X																																																																																			RGAG1	-	NULL		0.522	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	G	NM_020769		109696047	+1	no_errors	ENST00000465301	ensembl	human	known	70_37	silent	SNP	0.000	A
RGL1	23179	genome.wustl.edu	37	1	183895267	183895268	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:183895267_183895268insT	ENST00000360851.3	+	18	2326_2327	c.2148_2149insT	c.(2149-2151)tttfs	p.F717fs	RGL1_ENST00000536277.1_Frame_Shift_Ins_p.F715fs|RGL1_ENST00000539189.1_Frame_Shift_Ins_p.F688fs|RGL1_ENST00000304685.4_Frame_Shift_Ins_p.F752fs			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	717	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CAGCAAATGTCTTTTATGCCAT	0.436																																																	0																																										SO:0001589	frameshift_variant	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2152dupT	1.37:g.183895271_183895271dupT	ENSP00000354097:p.Phe717fs		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Frame_Shift_Ins	INS	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Y752fs	ENST00000360851.3	37	c.2253_2254		1																																																																																			RGL1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.436	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085742.1	-	NM_015149		183895268	+1	no_errors	ENST00000304685	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
RGPD4	285190	genome.wustl.edu	37	2	108478125	108478125	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:108478125C>A	ENST00000408999.3	+	15	2211	c.2134C>A	c.(2134-2136)Ctg>Atg	p.L712M	RGPD4_ENST00000354986.4_Missense_Mutation_p.L712M	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	712					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAAAAATTATCTGAGAAAGAC	0.353																																																	0													50.0	41.0	44.0					2																	108478125		692	1575	2267	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.2134C>A	2.37:g.108478125C>A	ENSP00000386810:p.Leu712Met		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.L712M	ENST00000408999.3	37	c.2134	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	8.408	0.843565	0.16963	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.22539	1.95;1.95	2.6	1.02	0.19986	.	.	.	.	.	T	0.38480	0.1042	M	0.64997	1.995	0.25039	N	0.991219	D	0.64830	0.994	D	0.77557	0.99	T	0.10917	-1.0609	9	0.72032	D	0.01	-4.0444	7.5159	0.27600	0.0:0.7288:0.0:0.2712	.	712	Q7Z3J3	RGPD4_HUMAN	M	712;712;470	ENSP00000347081:L712M;ENSP00000386810:L712M	ENSP00000347081:L712M	L	+	1	2	RGPD4	107844557	0.568000	0.26635	0.998000	0.56505	0.617000	0.37484	0.637000	0.24659	0.308000	0.22923	0.152000	0.16155	CTG	RGPD4	-	NULL		0.353	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	C	XM_496581		108478125	+1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	0.997	A
RGS10	6001	genome.wustl.edu	37	10	121295974	121295974	+	Splice_Site	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:121295974A>G	ENST00000392865.1	-	1	70		c.e1+1		RGS10_ENST00000369103.2_Intron	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10						positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		GCGATTCCTTACGTTCCATGC	0.607																																																	0													65.0	70.0	69.0					10																	121295974		2042	4194	6236	SO:0001630	splice_region_variant	6001			AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000392865.1:c.7+1T>C	10.37:g.121295974A>G			A8K408|B1AMR8|Q6IAZ6|Q96GN0	Splice_Site	SNP	-	e1+2	ENST00000392865.1	37	c.7+2	CCDS41572.1	10	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260646	0.59431	.	.	ENSG00000148908	ENST00000392865	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4442	0.50114	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RGS10	121285964	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.912000	0.63335	1.949000	0.56562	0.459000	0.35465	.	RGS10	-	-		0.607	RGS10-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGS10	HGNC	protein_coding		A	NM_002925	Intron	121295974	-1	no_errors	ENST00000392865	ensembl	human	known	70_37	splice_site	SNP	1.000	G
RGS12	6002	genome.wustl.edu	37	4	3430419	3430419	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:3430419T>G	ENST00000344733.5	+	16	4450	c.3546T>G	c.(3544-3546)atT>atG	p.I1182M	RGS12_ENST00000538395.1_Intron|RGS12_ENST00000336727.3_Missense_Mutation_p.I1182M|RGS12_ENST00000382788.3_Missense_Mutation_p.I1182M|RGS12_ENST00000338806.4_Missense_Mutation_p.I534M|RGS12_ENST00000306648.7_Intron	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1182					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCAGAAAATTAATTTGGACG	0.338																																																	0													45.0	50.0	48.0					4																	3430419		2202	4300	6502	SO:0001583	missense	6002			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3546T>G	4.37:g.3430419T>G	ENSP00000339381:p.Ile1182Met		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTyr_interaction_dom,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTyr_interaction_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.I1182M	ENST00000344733.5	37	c.3546	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867113	0.51588	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.38240	1.46;1.47;1.47;1.15	4.86	4.86	0.63082	.	0.055094	0.64402	D	0.000001	T	0.51227	0.1662	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.71674	0.998;0.989;0.996;0.997	D;D;D;D	0.71870	0.963;0.923;0.945;0.975	T	0.53774	-0.8391	10	0.41790	T	0.15	-18.8889	4.6686	0.12678	0.1807:0.0908:0.0:0.7285	.	524;534;1182;1182	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	M	1182;1182;1182;534	ENSP00000339381:I1182M;ENSP00000338509:I1182M;ENSP00000372238:I1182M;ENSP00000342133:I534M	ENSP00000338509:I1182M	I	+	3	3	RGS12	3400217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.422000	0.44696	1.945000	0.56424	0.533000	0.62120	ATT	RGS12	-	NULL		0.338	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	T	NM_002926		3430419	+1	no_errors	ENST00000344733	ensembl	human	known	70_37	missense	SNP	1.000	G
RGS17	26575	genome.wustl.edu	37	6	153332806	153332806	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:153332806T>C	ENST00000367225.2	-	4	560	c.536A>G	c.(535-537)tAt>tGt	p.Y179C	RGS17_ENST00000206262.1_Missense_Mutation_p.Y179C			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	179	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CATTAAAGTATATATCTGAAG	0.353																																					Esophageal Squamous(78;500 1236 6775 24364 49058)												0													60.0	61.0	60.0					6																	153332806		2203	4300	6503	SO:0001583	missense	26575			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.536A>G	6.37:g.153332806T>C	ENSP00000356194:p.Tyr179Cys		Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Y179C	ENST00000367225.2	37	c.536	CCDS5244.1	6	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907655	0.72868	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.34072	1.38;1.38	5.19	5.19	0.71726	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79569	-0.1749	10	0.87932	D	0	-14.785	15.3814	0.74658	0.0:0.0:0.0:1.0	.	179	Q9UGC6	RGS17_HUMAN	C	179	ENSP00000356194:Y179C;ENSP00000206262:Y179C	ENSP00000206262:Y179C	Y	-	2	0	RGS17	153374499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.954000	0.87848	2.089000	0.63090	0.451000	0.29950	TAT	RGS17	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.353	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS17	HGNC	protein_coding	OTTHUMT00000042773.2	T			153332806	-1	no_errors	ENST00000206262	ensembl	human	known	70_37	missense	SNP	1.000	C
RGS2	5997	genome.wustl.edu	37	1	192778294	192778294	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:192778294A>C	ENST00000235382.5	+	1	124	c.93A>C	c.(91-93)gaA>gaC	p.E31D	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	31					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						AGAAGCGAGAAAAGATGAAAC	0.557																																					Pancreas(71;51 2183 4981)												0													211.0	180.0	191.0					1																	192778294		2203	4300	6503	SO:0001583	missense	5997			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.93A>C	1.37:g.192778294A>C	ENSP00000235382:p.Glu31Asp		Q6I9U5	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E31D	ENST00000235382.5	37	c.93	CCDS1377.1	1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642381	0.47153	.	.	ENSG00000116741	ENST00000235382	T	0.70869	-0.52	5.4	-2.86	0.05717	.	0.472515	0.23041	N	0.052608	T	0.47820	0.1466	N	0.19112	0.55	0.24554	N	0.994007	B	0.32620	0.378	B	0.29176	0.099	T	0.38308	-0.9667	10	0.29301	T	0.29	.	11.4914	0.50383	0.5868:0.0:0.4132:0.0	.	31	P41220	RGS2_HUMAN	D	31	ENSP00000235382:E31D	ENSP00000235382:E31D	E	+	3	2	RGS2	191044917	0.784000	0.28713	0.977000	0.42913	0.961000	0.63080	-0.424000	0.07025	-0.377000	0.07930	-0.290000	0.09829	GAA	RGS2	-	NULL		0.557	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS2	HGNC	protein_coding	OTTHUMT00000086396.1	A	NM_002923		192778294	+1	no_errors	ENST00000235382	ensembl	human	known	70_37	missense	SNP	0.946	C
RGS22	26166	genome.wustl.edu	37	8	101076270	101076270	+	Splice_Site	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:101076270C>A	ENST00000360863.6	-	8	920	c.726G>T	c.(724-726)gaG>gaT	p.E242D	RGS22_ENST00000523287.1_Splice_Site_p.E61D|RGS22_ENST00000523437.1_Splice_Site_p.E230D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	242					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATAAAATTCTCTGTATTAA	0.313																																																	0													102.0	107.0	106.0					8																	101076270		1791	4042	5833	SO:0001630	splice_region_variant	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.725-1G>T	8.37:g.101076270C>A			A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.E242D	ENST00000360863.6	37	c.726	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029319	0.35797	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.33438	1.43;1.41;1.43	5.86	0.587	0.17439	.	0.648225	0.15511	N	0.258545	T	0.18045	0.0433	L	0.28740	0.885	0.24066	N	0.995998	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.003;0.003;0.003	T	0.16453	-1.0402	10	0.35671	T	0.21	.	5.0276	0.14393	0.1348:0.5377:0.0:0.3275	.	230;242;61	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	D	242;230;61;230	ENSP00000354109:E242D;ENSP00000429382:E61D;ENSP00000428212:E230D	ENSP00000354109:E242D	E	-	3	2	RGS22	101145446	0.298000	0.24417	0.996000	0.52242	0.819000	0.46315	0.075000	0.14686	0.151000	0.19162	0.650000	0.86243	GAG	RGS22	-	NULL		0.313	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	C	NM_015668	Missense_Mutation	101076270	-1	no_errors	ENST00000360863	ensembl	human	known	70_37	missense	SNP	0.977	A
RGS4	5999	genome.wustl.edu	37	1	163044242	163044242	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:163044242G>T	ENST00000367909.6	+	5	850	c.510G>T	c.(508-510)aaG>aaT	p.K170N	RGS4_ENST00000527809.1_Missense_Mutation_p.K152N|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000421743.2_Missense_Mutation_p.K267N|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000367906.3_Missense_Mutation_p.K152N	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	170	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GCTTCCTCAAGTCTCGATTCT	0.507																																					Ovarian(76;1257 1738 3039 6086)												0													217.0	233.0	227.0					1																	163044242		2203	4300	6503	SO:0001583	missense	5999			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.510G>T	1.37:g.163044242G>T	ENSP00000356885:p.Lys170Asn		A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.K267N	ENST00000367909.6	37	c.801	CCDS1243.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193882	0.78902	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367906	T;T;T;T	0.02236	4.38;4.38;4.38;4.38	5.11	3.22	0.36961	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.156761	0.56097	D	0.000038	T	0.04092	0.0114	L	0.60957	1.885	0.42872	D	0.994143	D;D	0.89917	0.998;1.0	D;D	0.77557	0.974;0.99	T	0.16012	-1.0417	9	0.87932	D	0	.	9.9074	0.41384	0.1682:0.0:0.8318:0.0	.	170;267	P49798;A7XA59	RGS4_HUMAN;.	N	267;170;152;152	ENSP00000397181:K267N;ENSP00000356885:K170N;ENSP00000433261:K152N;ENSP00000356882:K152N	ENSP00000356882:K152N	K	+	3	2	RGS4	161310866	0.995000	0.38212	0.999000	0.59377	0.978000	0.69477	0.376000	0.20535	0.720000	0.32209	0.655000	0.94253	AAG	RGS4	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.507	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS4	HGNC	protein_coding	OTTHUMT00000083197.2	G	NM_005613		163044242	+1	no_errors	ENST00000421743	ensembl	human	known	70_37	missense	SNP	1.000	T
RGS4	5999	genome.wustl.edu	37	1	163045609	163045609	+	3'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:163045609A>C	ENST00000367909.6	+	0	2217				RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000421743.2_3'UTR|RGS4_ENST00000367908.4_3'UTR	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4						inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AGAGGGAACAAATTTTCACAA	0.343																																					Ovarian(76;1257 1738 3039 6086)												0																																										SO:0001624	3_prime_UTR_variant	5999			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.*1259A>C	1.37:g.163045609A>C			A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	RNA	SNP	-	NULL	ENST00000367909.6	37	NULL	CCDS1243.1	1																																																																																			RGS4	-	-		0.343	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS4	HGNC	protein_coding	OTTHUMT00000083197.2	A	NM_005613		163045609	+1	no_errors	ENST00000491263	ensembl	human	known	70_37	rna	SNP	0.000	C
RGS5	8490	genome.wustl.edu	37	1	163187355	163187355	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:163187355A>G	ENST00000367903.3	-	1	71	c.30T>C	c.(28-30)atT>atC	p.I10I	RGS5_ENST00000534288.1_Intron			O15539	RGS5_HUMAN	regulator of G-protein signaling 5	0					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GTAAGATGAGAATATCCTGTG	0.328																																																	0																																										SO:0001819	synonymous_variant	8490			AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000367903.3:c.30T>C	1.37:g.163187355A>G			E9PMP5|Q53XA9|Q599J0	Silent	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.I10	ENST00000367903.3	37	c.30		1																																																																																			RGS5	-	NULL		0.328	RGS5-002	PUTATIVE	basic	protein_coding	RGS5	HGNC	protein_coding	OTTHUMT00000083265.1	A	NM_003617		163187355	-1	no_errors	ENST00000367903	ensembl	human	putative	70_37	silent	SNP	0.001	G
RGS6	9628	genome.wustl.edu	37	14	72818871	72818871	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:72818871C>T	ENST00000553530.1	+	3	360	c.153C>T	c.(151-153)agC>agT	p.S51S	RGS6_ENST00000555571.1_Silent_p.S51S|RGS6_ENST00000355512.6_Silent_p.S51S|RGS6_ENST00000406236.4_Silent_p.S51S|RGS6_ENST00000343854.6_Silent_p.S51S|RGS6_ENST00000556437.1_Silent_p.S51S|RGS6_ENST00000404301.2_Silent_p.S51S|RGS6_ENST00000553525.1_Silent_p.S51S|RGS6_ENST00000402788.2_Silent_p.S51S|RGS6_ENST00000407322.4_Silent_p.S51S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	51	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGTCAAGAGCTTTCTCTCCA	0.428																																					Ovarian(143;1926 2468 21071 48641)												0													120.0	107.0	111.0					14																	72818871		2203	4300	6503	SO:0001819	synonymous_variant	9628			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.153C>T	14.37:g.72818871C>T			C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.S51	ENST00000553530.1	37	c.153	CCDS9808.1	14																																																																																			RGS6	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.428	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	C			72818871	+1	no_errors	ENST00000553525	ensembl	human	known	70_37	silent	SNP	1.000	T
RHD	6007	genome.wustl.edu	37	1	25599101	25599101	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:25599101A>C	ENST00000328664.4	+	1	218	c.63A>C	c.(61-63)gaA>gaC	p.E21D	RHD_ENST00000342055.5_Missense_Mutation_p.E21D|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.E21D|RHD_ENST00000357542.4_Missense_Mutation_p.E21D|RHD_ENST00000417538.2_Missense_Mutation_p.E21D|RHD_ENST00000423810.2_Missense_Mutation_p.E21D|RHD_ENST00000568195.1_Missense_Mutation_p.E21D	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	21						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAACACTGGAAGCAGCTCTCA	0.547																																																	0													103.0	81.0	89.0					1																	25599101		2201	4298	6499	SO:0001583	missense	6007			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.63A>C	1.37:g.25599101A>C	ENSP00000331871:p.Glu21Asp		Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.E21D	ENST00000328664.4	37	c.63	CCDS262.1	1	.	.	.	.	.	.	.	.	.	.	a	16.20	3.056095	0.55325	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	3.33	-0.547	0.11836	Ammonium transporter AmtB-like (1);	0.198258	0.42682	D	0.000670	T	0.47746	0.1462	M	0.88105	2.93	0.09310	N	1	D;D;D;D;D;P;D;D	0.65815	0.995;0.99;0.992;0.995;0.985;0.853;0.995;0.973	D;D;D;D;P;P;D;D	0.76575	0.957;0.977;0.987;0.957;0.903;0.589;0.988;0.947	T	0.28332	-1.0047	10	0.66056	D	0.02	-14.3394	5.2599	0.15567	0.5667:0.0:0.4333:0.0	.	21;21;21;21;21;21;21;21	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	D	21	ENSP00000331871:E21D;ENSP00000413849:E21D;ENSP00000339577:E21D;ENSP00000350150:E21D;ENSP00000396420:E21D;ENSP00000399640:E21D	ENSP00000331871:E21D	E	+	3	2	RHD	25471688	0.912000	0.30974	0.001000	0.08648	0.312000	0.27988	1.717000	0.37991	0.068000	0.16574	-0.446000	0.05623	GAA	RHD	-	pfam_NH4_transpt_AmtB-like,prints_RhesusRHD		0.547	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHD	HGNC	protein_coding	OTTHUMT00000009660.5	A	NM_016124		25599101	+1	no_errors	ENST00000328664	ensembl	human	known	70_37	missense	SNP	0.002	C
RHD	6007	genome.wustl.edu	37	1	25634165	25634165	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:25634165A>C	ENST00000328664.4	+	7	1228				RHD_ENST00000342055.5_Missense_Mutation_p.K367N|RHD_ENST00000423253.1_Intron|RHD_ENST00000454452.2_Intron|RHD_ENST00000357542.4_Intron|RHD_ENST00000417538.2_Intron|RHD_ENST00000423810.2_Missense_Mutation_p.K367N|RHD_ENST00000568195.1_Intron	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen							integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		tggcTGTAAAAATGGCTGAAG	0.488																																																	0																																										SO:0001627	intron_variant	6007			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.1073+945A>C	1.37:g.25634165A>C			Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.K367N	ENST00000328664.4	37	c.1101	CCDS262.1	1	.	.	.	.	.	.	.	.	.	.	A	6.661	0.490429	0.12702	.	.	ENSG00000187010	ENST00000342055;ENST00000423810	T;T	0.22743	1.94;2.0	1.23	0.217	0.15264	.	1240.270000	0.00166	N	0.000001	T	0.10637	0.0260	.	.	.	0.09310	N	1	B;P	0.37233	0.017;0.588	B;B	0.19946	0.026;0.027	T	0.16070	-1.0415	9	0.33141	T	0.24	0.1538	3.4374	0.07450	0.2953:0.0:0.7047:0.0	.	367;367	Q5XLS9;E7EVW1	.;.	N	367	ENSP00000339577:K367N;ENSP00000399640:K367N	ENSP00000339577:K367N	K	+	3	2	RHD	25506752	0.000000	0.05858	0.004000	0.12327	0.200000	0.23975	0.145000	0.16157	0.067000	0.16545	0.155000	0.16302	AAA	RHD	-	NULL		0.488	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHD	HGNC	protein_coding	OTTHUMT00000009660.5	A	NM_016124		25634165	+1	no_errors	ENST00000342055	ensembl	human	putative	70_37	missense	SNP	0.006	C
RHOBTB2	23221	genome.wustl.edu	37	8	22865591	22865591	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:22865591T>C	ENST00000251822.6	+	6	2124	c.1587T>C	c.(1585-1587)ttT>ttC	p.F529F	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.F536F|RHOBTB2_ENST00000519685.1_Silent_p.F551F|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	529	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTGCCATGTTTGGGGGGCCAT	0.562																																																	0													64.0	66.0	65.0					8																	22865591		2203	4300	6503	SO:0001819	synonymous_variant	23221			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1587T>C	8.37:g.22865591T>C			A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.F529	ENST00000251822.6	37	c.1587	CCDS6034.1	8																																																																																			RHOBTB2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.562	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	T			22865591	+1	no_errors	ENST00000251822	ensembl	human	known	70_37	silent	SNP	1.000	C
RHPN2	85415	genome.wustl.edu	37	19	33470790	33470790	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:33470790G>T	ENST00000254260.3	-	0	2208				RHPN2_ENST00000588683.1_5'UTR|RHPN2_ENST00000400226.4_3'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TACACTATGAGAAAAACAGGA	0.358																																																	0																																										SO:0001624	3_prime_UTR_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.*112C>A	19.37:g.33470790G>T			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	RNA	SNP	-	NULL	ENST00000254260.3	37	NULL	CCDS12427.1	19																																																																																			RHPN2	-	-		0.358	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	G	NM_033103		33470790	-1	no_errors	ENST00000588683	ensembl	human	putative	70_37	rna	SNP	0.045	T
RICTOR	253260	genome.wustl.edu	37	5	38963010	38963010	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:38963010G>T	ENST00000357387.3	-	17	1564	c.1534C>A	c.(1534-1536)Ctc>Atc	p.L512I	RICTOR_ENST00000296782.5_Missense_Mutation_p.L512I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGAACTCGGAGATACTGATCC	0.358																																																	0													159.0	149.0	153.0					5																	38963010		2203	4300	6503	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1534C>A	5.37:g.38963010G>T	ENSP00000349959:p.Leu512Ile			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L512I	ENST00000357387.3	37	c.1534	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	G	15.44	2.832965	0.50951	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.44881	0.92;0.91	5.76	5.76	0.90799	Armadillo-type fold (1);	0.165039	0.47852	D	0.000212	T	0.39226	0.1070	L	0.29908	0.895	0.38081	D	0.936671	B;P	0.40476	0.017;0.718	B;B	0.41764	0.009;0.366	T	0.42241	-0.9463	10	0.87932	D	0	-9.7863	17.8322	0.88686	0.0:0.0:1.0:0.0	.	512;512	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	512	ENSP00000349959:L512I;ENSP00000296782:L512I	ENSP00000296782:L512I	L	-	1	0	RICTOR	38998767	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.220000	0.58567	2.880000	0.98712	0.650000	0.86243	CTC	RICTOR	-	superfamily_ARM-type_fold		0.358	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	G	NM_152756		38963010	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	missense	SNP	1.000	T
RIF1	55183	genome.wustl.edu	37	2	152301883	152301883	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:152301883A>C	ENST00000243326.5	+	18	2501	c.2018A>C	c.(2017-2019)gAa>gCa	p.E673A	RIF1_ENST00000428287.2_Missense_Mutation_p.E673A|RIF1_ENST00000430328.2_Missense_Mutation_p.E673A|RIF1_ENST00000444746.2_Missense_Mutation_p.E673A|RIF1_ENST00000453091.2_Missense_Mutation_p.E673A			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATGCCTTAGAACATAATTTT	0.318																																																	0													143.0	138.0	140.0					2																	152301883		2203	4299	6502	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2018A>C	2.37:g.152301883A>C	ENSP00000243326:p.Glu673Ala		A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.E673A	ENST00000243326.5	37	c.2018	CCDS2194.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.603610|4.603610	0.87157|0.87157	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	D;D;D;D;D|.	0.98876|.	-5.2;-5.2;-5.2;-5.2;-5.2|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.047608|.	0.85682|.	D|.	0.000000|.	T|T	0.71467|0.71467	0.3343|0.3343	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	P;P|.	0.51449|.	0.848;0.945|.	B;P|.	0.47430|.	0.424;0.547|.	T|T	0.70967|0.70967	-0.4728|-0.4728	10|5	0.66056|.	D|.	0.02|.	-13.4857|-13.4857	15.3015|15.3015	0.73955|0.73955	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	673;673|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	A|S	673|664	ENSP00000390181:E673A;ENSP00000414615:E673A;ENSP00000415691:E673A;ENSP00000243326:E673A;ENSP00000416123:E673A|.	ENSP00000243326:E673A|.	E|R	+|+	2|3	0|2	RIF1|RIF1	152010129|152010129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.872000|7.872000	0.87187|0.87187	2.156000|2.156000	0.67533|0.67533	0.533000|0.533000	0.62120|0.62120	GAA|AGA	RIF1	-	NULL		0.318	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	A			152301883	+1	no_errors	ENST00000243326	ensembl	human	known	70_37	missense	SNP	1.000	C
RIMS1	22999	genome.wustl.edu	37	6	72975721	72975721	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:72975721G>A	ENST00000521978.1	+	22	3367	c.3367G>A	c.(3367-3369)Gat>Aat	p.D1123N	RIMS1_ENST00000518273.1_Missense_Mutation_p.D1059N|RIMS1_ENST00000523963.1_Missense_Mutation_p.D533N|RIMS1_ENST00000401910.3_Missense_Mutation_p.D532N|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000425662.2_Missense_Mutation_p.D452N|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.D1059N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D1058N|RIMS1_ENST00000264839.7_Missense_Mutation_p.D1085N|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517827.1_Missense_Mutation_p.D518N|RIMS1_ENST00000348717.5_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1123					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)				CTTGAGACCAGATACTAGTTT	0.393																																																	0													53.0	48.0	50.0					6																	72975721		1853	4096	5949	SO:0001583	missense	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.3367G>A	6.37:g.72975721G>A	ENSP00000428417:p.Asp1123Asn		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_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.D1123N	ENST00000521978.1	37	c.3367	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639349	0.87760	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000349908;ENST00000264839;ENST00000518273;ENST00000520567;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420	T;T;T;T;T;T;T;T;T;T	0.19105	2.45;2.48;2.58;2.53;2.39;2.5;2.51;2.56;2.56;2.17	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	T	0.30727	0.0774	L	0.36672	1.1	0.80722	D	1	B;P;B;B;B;P;B;P;D	0.71674	0.016;0.734;0.039;0.004;0.007;0.895;0.079;0.813;0.998	B;B;B;B;B;P;B;B;D	0.78314	0.01;0.321;0.014;0.013;0.001;0.452;0.028;0.328;0.991	T	0.01262	-1.1402	10	0.45353	T	0.12	-21.2098	20.0558	0.97650	0.0:0.0:1.0:0.0	.	518;533;518;532;311;1059;312;1059;1123	B7Z3S3;E9PHF5;B7Z9Z3;E9PF48;Q5JY22;E7ERQ1;Q5JY21;C9JNW6;Q86UR5	.;.;.;.;.;.;.;.;RIMS1_HUMAN	N	1059;1085;1059;1059;1085;1059;1058;1123;532;533;452;518;284	ENSP00000430101:D1059N;ENSP00000264839:D1085N;ENSP00000430408:D1059N;ENSP00000430502:D1058N;ENSP00000428417:D1123N;ENSP00000385649:D532N;ENSP00000428328:D533N;ENSP00000411235:D452N;ENSP00000428367:D518N;ENSP00000359448:D284N	ENSP00000264839:D1085N	D	+	1	0	RIMS1	73032442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.397000	0.79903	2.742000	0.94016	0.637000	0.83480	GAT	RIMS1	-	NULL		0.393	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72975721	+1	no_errors	ENST00000521978	ensembl	human	known	70_37	missense	SNP	1.000	A
RIMS1	22999	genome.wustl.edu	37	6	73110490	73110490	+	IGR	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:73110490C>T	ENST00000521978.1	+	0	5079				RIMS1_ENST00000523963.1_3'UTR|RIMS1_ENST00000401910.3_3'UTR|RIMS1_ENST00000425662.2_3'UTR|RIMS1_ENST00000491071.2_3'UTR|RIMS1_ENST00000414192.2_3'UTR|RIMS1_ENST00000520567.1_3'UTR|RIMS1_ENST00000264839.7_3'UTR|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000538414.1_3'UTR|RIMS1_ENST00000517827.1_3'UTR|RIMS1_ENST00000348717.5_3'UTR	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						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)				ATTTCATGATCGAAAGCATTG	0.353																																																	0																																										SO:0001628	intergenic_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		6.37:g.73110490C>T			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	RNA	SNP	-	NULL	ENST00000521978.1	37	NULL	CCDS47449.1	6																																																																																			RIMS1	-	-		0.353	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	C			73110490	+1	no_errors	ENST00000431478	ensembl	human	known	70_37	rna	SNP	1.000	T
RIMS2	9699	genome.wustl.edu	37	8	104780598	104780598	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:104780598G>A	ENST00000406091.3	+	3	698					NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTTATGAGAAGCATATGGCCA	0.463										HNSCC(12;0.0054)																																							0																																										SO:0001627	intron_variant	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.698+1833G>A	8.37:g.104780598G>A			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	RNA	SNP	-	NULL	ENST00000406091.3	37	NULL	CCDS55269.1	8																																																																																			RIMS2	-	-		0.463	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	HGNC	protein_coding		G	NM_001100117		104780598	+1	no_errors	ENST00000395361	ensembl	human	known	70_37	rna	SNP	1.000	A
RIN2	54453	genome.wustl.edu	37	20	19982068	19982068	+	3'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:19982068A>C	ENST00000255006.6	+	0	3472				RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ATTTCATAGAAATTTTTATAG	0.249																																																	0																																										SO:0001624	3_prime_UTR_variant	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.*488A>C	20.37:g.19982068A>C			Q00425|Q5TFT8|Q9BQL3|Q9H071	RNA	SNP	-	NULL	ENST00000255006.6	37	NULL	CCDS56182.1	20																																																																																			RIN2	-	-		0.249	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1	A			19982068	+1	no_errors	ENST00000484638	ensembl	human	known	70_37	rna	SNP	1.000	C
RIN3	79890	genome.wustl.edu	37	14	93118693	93118693	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:93118693C>T	ENST00000216487.7	+	6	1458	c.1299C>T	c.(1297-1299)ggC>ggT	p.G433G	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	433	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CGGAGCAAGGCCAGGACACAG	0.652																																																	0													80.0	90.0	87.0					14																	93118693		2203	4300	6503	SO:0001819	synonymous_variant	79890			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1299C>T	14.37:g.93118693C>T			Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.G433	ENST00000216487.7	37	c.1299	CCDS32144.1	14																																																																																			RIN3	-	NULL		0.652	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN3	HGNC	protein_coding	OTTHUMT00000412269.1	C			93118693	+1	no_errors	ENST00000216487	ensembl	human	known	70_37	silent	SNP	0.046	T
RLF	6018	genome.wustl.edu	37	1	40704800	40704800	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:40704800T>G	ENST00000372771.4	+	8	4453	c.4426T>G	c.(4426-4428)Ttg>Gtg	p.L1476V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1476					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTATGATGATTTGTTTAGAAG	0.393																																																	0													64.0	63.0	63.0					1																	40704800		2203	4300	6503	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4426T>G	1.37:g.40704800T>G	ENSP00000361857:p.Leu1476Val		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1476V	ENST00000372771.4	37	c.4426	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	T	8.765	0.924581	0.18056	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.22743	1.94	6.02	4.13	0.48395	.	0.125569	0.56097	N	0.000038	T	0.20088	0.0483	L	0.50333	1.59	0.33610	D	0.603433	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.12372	-1.0550	10	0.51188	T	0.08	-5.1684	10.4723	0.44644	0.0:0.6792:0.252:0.0688	.	1169;1476	F5H2M5;Q13129	.;RLF_HUMAN	V	1476;1169	ENSP00000361857:L1476V	ENSP00000361857:L1476V	L	+	1	2	RLF	40477387	0.988000	0.35896	1.000000	0.80357	0.934000	0.57294	1.565000	0.36386	0.848000	0.35191	-0.242000	0.12053	TTG	RLF	-	NULL		0.393	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	T	NM_012421		40704800	+1	no_errors	ENST00000372771	ensembl	human	known	70_37	missense	SNP	0.994	G
RLTPR	146206	genome.wustl.edu	37	16	67680824	67680824	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67680824C>T	ENST00000334583.6	+	8	887	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	RLTPR_ENST00000545661.1_Missense_Mutation_p.R187C	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	187					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CATTTACCATCGCCAGGGCTG	0.632																																																	0													28.0	30.0	29.0					16																	67680824		2030	4184	6214	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.559C>T	16.37:g.67680824C>T	ENSP00000334958:p.Arg187Cys		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R187C	ENST00000334583.6	37	c.559	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832613	0.50845	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.52754	0.65;0.65	5.06	2.94	0.34122	.	0.623087	0.16662	N	0.204725	T	0.39784	0.1091	N	0.14661	0.345	0.09310	N	1	P;D	0.71674	0.876;0.998	B;P	0.52672	0.153;0.706	T	0.17776	-1.0358	10	0.66056	D	0.02	-12.1794	9.7236	0.40317	0.2135:0.6517:0.1348:0.0	.	187;187	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	C	187	ENSP00000334958:R187C;ENSP00000441481:R187C	ENSP00000334958:R187C	R	+	1	0	RLTPR	66238325	0.000000	0.05858	0.763000	0.31416	0.815000	0.46073	-0.194000	0.09559	1.244000	0.43870	0.563000	0.77884	CGC	RLTPR	-	NULL		0.632	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	C	NM_001013838		67680824	+1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	0.046	T
RNA5-8SP2	100873571	genome.wustl.edu	37	16	33965549	33965549	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:33965549C>A	ENST00000363564.1	+	0	124									RNA, 5.8S ribosomal pseudogene 2																		GCCCGGGTTCCTCCCAGGGCT	0.592																																																	0													41.0	43.0	42.0					16																	33965549		1568	3582	5150			100873571					16p11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000200434	ENSG00000200434			41956	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 2"""	RN5-8S2			Standard	NG_033434		Approved						16.37:g.33965549C>A				RNA	SNP	-	NULL	ENST00000363564.1	37	NULL		16																																																																																			RNA5-8SP2	-	-		0.592	RNA5-8SP2-201	KNOWN	basic	rRNA	RNA5-8SP2	HGNC	rRNA		C			33965549	+1	no_errors	ENST00000363564	ensembl	human	known	70_37	rna	SNP	1.000	A
RLTPR	146206	genome.wustl.edu	37	16	67688120	67688120	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67688120C>A	ENST00000334583.6	+	30	3517	c.3189C>A	c.(3187-3189)ttC>ttA	p.F1063L	RLTPR_ENST00000545661.1_Missense_Mutation_p.F1027L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1063					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGAGGAATTCTTCTCCAAAA	0.637																																																	0													31.0	34.0	33.0					16																	67688120		1948	4125	6073	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3189C>A	16.37:g.67688120C>A	ENSP00000334958:p.Phe1063Leu		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.F1063L	ENST00000334583.6	37	c.3189	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.121530	0.94385	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.57907	0.37;0.37	5.78	4.83	0.62350	.	0.000000	0.64402	D	0.000017	T	0.57373	0.2049	L	0.32530	0.975	0.49213	D	0.999761	D;D	0.76494	0.999;0.999	P;P	0.61070	0.883;0.883	T	0.60910	-0.7169	10	0.72032	D	0.01	-14.0682	11.7654	0.51928	0.0:0.918:0.0:0.082	.	1027;1063	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	L	1063;160;1027	ENSP00000334958:F1063L;ENSP00000441481:F1027L	ENSP00000334958:F1063L	F	+	3	2	RLTPR	66245621	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.570000	0.53834	1.447000	0.47661	0.563000	0.77884	TTC	RLTPR	-	NULL		0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	C	NM_001013838		67688120	+1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	1.000	A
RNASET2	8635	genome.wustl.edu	37	6	167357213	167357213	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:167357213A>C	ENST00000508775.1	-	5	781				RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Intron|RNASET2_ENST00000496851.2_Intron|RNASET2_ENST00000366855.6_Intron	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2						RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		aattgtaacaaatgtaacaca	0.343																																																	0																																										SO:0001627	intron_variant	8635			AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.262-636T>G	6.37:g.167357213A>C			B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Missense_Mutation	SNP	pfam_RNase_T2-like,superfamily_RNase_T2-like	p.L116V	ENST00000508775.1	37	c.346	CCDS5295.1	6																																																																																			RNASET2	-	NULL		0.343	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASET2	HGNC	protein_coding	OTTHUMT00000043089.2	A	NM_003730		167357213	-1	no_errors	ENST00000421787	ensembl	human	known	70_37	missense	SNP	0.000	C
RNF103	7844	genome.wustl.edu	37	2	86831408	86831408	+	Missense_Mutation	SNP	G	G	A	rs143477816		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:86831408G>A	ENST00000237455.4	-	4	2584	c.1616C>T	c.(1615-1617)tCg>tTg	p.S539L	AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	539					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S539L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CTCACTTTCCGAGTCATTTTC	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											160.0	167.0	165.0					2																	86831408		2203	4300	6503	SO:0001583	missense	7844			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1616C>T	2.37:g.86831408G>A	ENSP00000237455:p.Ser539Leu		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.S539L	ENST00000237455.4	37	c.1616	CCDS33237.1	2	.	.	.	.	.	.	.	.	.	.	G	9.333	1.061095	0.19987	.	.	ENSG00000239305	ENST00000237455	T	0.44482	0.92	5.73	5.73	0.89815	.	0.259165	0.39083	N	0.001469	T	0.36110	0.0955	L	0.54323	1.7	0.54753	D	0.999987	P	0.44659	0.84	B	0.25614	0.062	T	0.41484	-0.9506	10	0.49607	T	0.09	-9.226	19.8992	0.96978	0.0:0.0:1.0:0.0	.	539	O00237	RN103_HUMAN	L	539	ENSP00000237455:S539L	ENSP00000237455:S539L	S	-	2	0	RNF103	86684919	1.000000	0.71417	0.993000	0.49108	0.307000	0.27823	3.616000	0.54174	2.699000	0.92147	0.460000	0.39030	TCG	RNF103	-	NULL		0.398	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2	G	NM_005667		86831408	-1	no_errors	ENST00000237455	ensembl	human	known	70_37	missense	SNP	0.999	A
RNF126P1	376412	genome.wustl.edu	37	17	55122996	55122996	+	RNA	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:55122996T>G	ENST00000567452.1	+	0	158					NR_002818.2				ring finger protein 126 pseudogene 1																		ATCGAGGAGCTTCCTGAAGAG	0.597																																																	0																																												376412			BC033555		17q23.2	2004-04-22				ENSG00000261192		"""RING-type (C3HC4) zinc fingers"""	30340	pseudogene	pseudogene						12477932	Standard	NR_002818		Approved		uc002iuw.3				17.37:g.55122996T>G				RNA	SNP	-	NULL	ENST00000567452.1	37	NULL		17																																																																																			RNF126P1	-	-		0.597	RNF126P1-002	KNOWN	basic	processed_transcript	RNF126P1	HGNC	pseudogene	OTTHUMT00000431453.1	T			55122996	+1	no_errors	ENST00000567452	ensembl	human	known	70_37	rna	SNP	0.981	G
RNF133	168433	genome.wustl.edu	37	7	122338779	122338779	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:122338779C>T	ENST00000340112.2	-	1	431	c.194G>A	c.(193-195)aGc>aAc	p.S65N	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	65	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CAAAGTGGAGCTTCTTCCAAA	0.423																																					Colon(198;1778 2057 7449 19869 45985)												0													105.0	108.0	107.0					7																	122338779		2203	4300	6503	SO:0001583	missense	168433			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.194G>A	7.37:g.122338779C>T	ENSP00000344489:p.Ser65Asn		A4D0W2|Q8N7G7	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S65N	ENST00000340112.2	37	c.194	CCDS5784.1	7	.	.	.	.	.	.	.	.	.	.	C	1.853	-0.464540	0.04476	.	.	ENSG00000188050	ENST00000340112	T	0.13778	2.56	6.06	4.23	0.50019	.	0.349867	0.29410	N	0.012233	T	0.09730	0.0239	L	0.35723	1.085	0.80722	D	1	B	0.12630	0.006	B	0.14578	0.011	T	0.17198	-1.0377	10	0.14656	T	0.56	.	7.3881	0.26895	0.0:0.5294:0.3256:0.145	.	65	Q8WVZ7	RN133_HUMAN	N	65	ENSP00000344489:S65N	ENSP00000344489:S65N	S	-	2	0	RNF133	122126015	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	0.699000	0.25586	0.864000	0.35578	-0.140000	0.14226	AGC	RNF133	-	NULL		0.423	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	HGNC	protein_coding	OTTHUMT00000347413.1	C	NM_139175		122338779	-1	no_errors	ENST00000340112	ensembl	human	known	70_37	missense	SNP	0.999	T
RNF141	50862	genome.wustl.edu	37	11	10555624	10555624	+	Nonsense_Mutation	SNP	G	G	A	rs144898917		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:10555624G>A	ENST00000265981.2	-	2	224	c.82C>T	c.(82-84)Cga>Tga	p.R28*	RNF141_ENST00000528665.1_Nonsense_Mutation_p.R28*	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	28					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CCACTCTCTCGAACCAACGTA	0.383																																					Ovarian(8;377 410 25844 26058 41491)												0								G	stop/ARG	1,4401	2.1+/-5.4	0,1,2200	175.0	158.0	164.0		82	3.9	1.0	11	dbSNP_134	164	0,8588		0,0,4294	no	stop-gained	RNF141	NM_016422.3		0,1,6494	AA,AG,GG		0.0,0.0227,0.0077		28/231	10555624	1,12989	2201	4294	6495	SO:0001587	stop_gained	50862			AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"""RING-type (C3HC4) zinc fingers"""	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.82C>T	11.37:g.10555624G>A	ENSP00000265981:p.Arg28*		A8K149|Q9NZB4	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R28*	ENST00000265981.2	37	c.82	CCDS7803.1	11	.	.	.	.	.	.	.	.	.	.	G	37	5.977512	0.97168	2.27E-4	0.0	ENSG00000110315	ENST00000265981;ENST00000528665;ENST00000533412	.	.	.	5.77	3.87	0.44632	.	0.127062	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5576	10.737	0.46130	0.068:0.0:0.7997:0.1322	.	.	.	.	X	28	.	ENSP00000265981:R28X	R	-	1	2	RNF141	10512200	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.212000	0.77941	0.755000	0.32990	0.655000	0.94253	CGA	RNF141	-	NULL		0.383	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF141	HGNC	protein_coding	OTTHUMT00000385888.1	G	NM_016422		10555624	-1	no_errors	ENST00000265981	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RNF157	114804	genome.wustl.edu	37	17	74163187	74163187	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:74163187C>A	ENST00000269391.6	-	5	596	c.464G>T	c.(463-465)aGc>aTc	p.S155I	RNF157_ENST00000319945.6_Missense_Mutation_p.S155I	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	155							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CGACTGGAGGCTGTTGTCTTT	0.552																																					GBM(186;507 2120 27388 27773 52994)												0													115.0	105.0	108.0					17																	74163187		2203	4300	6503	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.464G>T	17.37:g.74163187C>A	ENSP00000269391:p.Ser155Ile		Q8NB72|Q96N56	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S155I	ENST00000269391.6	37	c.464	CCDS32740.1	17	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950365	0.53186	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.33216	1.42;1.42	5.43	4.45	0.53987	.	0.269079	0.48767	D	0.000169	T	0.34077	0.0885	L	0.50333	1.59	0.80722	D	1	B;B	0.25206	0.12;0.07	B;B	0.37650	0.255;0.09	T	0.26189	-1.0110	10	0.62326	D	0.03	-0.1465	10.4557	0.44548	0.0:0.8483:0.0:0.1517	.	155;155	Q96PX1-2;Q96PX1	.;RN157_HUMAN	I	155;155;117	ENSP00000269391:S155I;ENSP00000321837:S155I	ENSP00000269391:S155I	S	-	2	0	RNF157	71674782	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.021000	0.49651	2.525000	0.85131	0.655000	0.94253	AGC	RNF157	-	NULL		0.552	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF157	HGNC	protein_coding	OTTHUMT00000255874.2	C	XM_290732		74163187	-1	no_errors	ENST00000269391	ensembl	human	known	70_37	missense	SNP	1.000	A
RNF216	54476	genome.wustl.edu	37	7	5780712	5780712	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:5780712A>G	ENST00000425013.2	-	4	989	c.765T>C	c.(763-765)ggT>ggC	p.G255G	RNF216_ENST00000389902.3_Silent_p.G312G	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	255					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GAAAGGCTGGACCTGGCTCTT	0.502																																																	0													81.0	82.0	82.0					7																	5780712		2203	4300	6503	SO:0001819	synonymous_variant	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.765T>C	7.37:g.5780712A>G			Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	smart_Znf_C6HC	p.G312	ENST00000425013.2	37	c.936	CCDS34595.1	7																																																																																			RNF216	-	NULL		0.502	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF216	HGNC	protein_coding	OTTHUMT00000340374.1	A	NM_207111		5780712	-1	no_errors	ENST00000389902	ensembl	human	known	70_37	silent	SNP	0.537	G
RNF219	79596	genome.wustl.edu	37	13	79190810	79190810	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:79190810A>C	ENST00000282003.6	-	6	1144	c.1086T>G	c.(1084-1086)acT>acG	p.T362T	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	362							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTTCCAAATAAGTATCCATAC	0.378																																																	0													173.0	160.0	165.0					13																	79190810		2203	4300	6503	SO:0001819	synonymous_variant	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1086T>G	13.37:g.79190810A>C			B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	pfscan_Znf_RING	p.T362	ENST00000282003.6	37	c.1086	CCDS31997.1	13																																																																																			RNF219	-	NULL		0.378	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	A	NM_024546		79190810	-1	no_errors	ENST00000282003	ensembl	human	known	70_37	silent	SNP	0.973	C
RNF26	79102	genome.wustl.edu	37	11	119207121	119207121	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:119207121A>C	ENST00000311413.4	+	1	1885	c.1289A>C	c.(1288-1290)aAt>aCt	p.N430T	RP11-334E6.10_ENST00000501918.2_RNA|C1QTNF5_ENST00000525657.1_5'Flank	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	430						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CAGACCCTCAATGTCTACCTC	0.627																																																	0													39.0	42.0	41.0					11																	119207121		2199	4295	6494	SO:0001583	missense	79102			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.1289A>C	11.37:g.119207121A>C	ENSP00000312439:p.Asn430Thr		Q542Y8	Missense_Mutation	SNP	pfscan_Znf_RING	p.N430T	ENST00000311413.4	37	c.1289	CCDS8419.1	11	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525819	0.85600	.	.	ENSG00000173456	ENST00000311413	T	0.31247	1.5	5.52	5.52	0.82312	.	0.070614	0.56097	D	0.000036	T	0.37156	0.0993	N	0.19112	0.55	0.52501	D	0.999951	D	0.67145	0.996	P	0.60012	0.867	T	0.27191	-1.0081	10	0.59425	D	0.04	-7.5487	14.8261	0.70113	1.0:0.0:0.0:0.0	.	430	Q9BY78	RNF26_HUMAN	T	430	ENSP00000312439:N430T	ENSP00000312439:N430T	N	+	2	0	RNF26	118712331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.242000	0.78210	2.091000	0.63221	0.459000	0.35465	AAT	RNF26	-	NULL		0.627	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF26	HGNC	protein_coding	OTTHUMT00000388220.1	A	NM_032015		119207121	+1	no_errors	ENST00000311413	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF6	6049	genome.wustl.edu	37	13	26789310	26789310	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:26789310T>G	ENST00000381588.4	-	5	1461	c.709A>C	c.(709-711)Aat>Cat	p.N237H	RNF6_ENST00000346166.3_Missense_Mutation_p.N237H|RNF6_ENST00000381570.3_Missense_Mutation_p.N237H|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	237					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CCAATTCCATTTCTTAACCTT	0.458																																																	0													91.0	89.0	89.0					13																	26789310		2203	4300	6503	SO:0001583	missense	6049			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.709A>C	13.37:g.26789310T>G	ENSP00000371000:p.Asn237His		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.N237H	ENST00000381588.4	37	c.709	CCDS9316.1	13	.	.	.	.	.	.	.	.	.	.	T	14.42	2.531394	0.45073	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.07444	3.19;3.19;3.19	4.92	4.92	0.64577	.	0.387462	0.27354	N	0.019750	T	0.12561	0.0305	L	0.50333	1.59	0.80722	D	1	B	0.33448	0.412	B	0.37833	0.259	T	0.02797	-1.1109	10	0.72032	D	0.01	-9.3462	14.7367	0.69422	0.0:0.0:0.0:1.0	.	237	Q9Y252	RNF6_HUMAN	H	237	ENSP00000342121:N237H;ENSP00000371000:N237H;ENSP00000370982:N237H	ENSP00000342121:N237H	N	-	1	0	RNF6	25687310	0.994000	0.37717	0.987000	0.45799	0.600000	0.36913	3.450000	0.52957	2.076000	0.62316	0.455000	0.32223	AAT	RNF6	-	NULL		0.458	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	HGNC	protein_coding	OTTHUMT00000044246.2	T	NM_005977		26789310	-1	no_errors	ENST00000346166	ensembl	human	known	70_37	missense	SNP	0.999	G
RNGTT	8732	genome.wustl.edu	37	6	89616098	89616098	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:89616098C>A	ENST00000369485.4	-	5	615	c.429G>T	c.(427-429)gaG>gaT	p.E143D	RNGTT_ENST00000369475.3_Missense_Mutation_p.E143D|RNGTT_ENST00000265607.6_Missense_Mutation_p.E143D|RNGTT_ENST00000538899.1_Missense_Mutation_p.E83D	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	143	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		AATCCATTTTCTCCACCAAAA	0.299																																																	0													62.0	57.0	59.0					6																	89616098		2203	4300	6503	SO:0001583	missense	8732			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.429G>T	6.37:g.89616098C>A	ENSP00000358497:p.Glu143Asp		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase	p.E143D	ENST00000369485.4	37	c.429	CCDS5017.1	6	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485795	0.63962	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.6	3.78	0.43462	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.87261	0.6133	M	0.68317	2.08	0.80722	D	1	D;P;P;P	0.76494	0.999;0.609;0.554;0.609	D;P;B;P	0.70716	0.97;0.463;0.333;0.463	D	0.86884	0.2044	10	0.42905	T	0.14	.	11.7335	0.51752	0.0:0.8527:0.0:0.1473	.	83;143;143;143	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	D	143;143;83;114;143	ENSP00000358497:E143D;ENSP00000265607:E143D;ENSP00000442609:E83D;ENSP00000358487:E143D	ENSP00000265607:E143D	E	-	3	2	RNGTT	89672817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.430000	0.44766	1.335000	0.45486	0.655000	0.94253	GAG	RNGTT	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase		0.299	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	C			89616098	-1	no_errors	ENST00000369485	ensembl	human	known	70_37	missense	SNP	1.000	A
RORA	6095	genome.wustl.edu	37	15	60803653	60803653	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:60803653C>T	ENST00000335670.6	-	5	692	c.592G>A	c.(592-594)Gac>Aac	p.D198N	RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.D231N|RORA_ENST00000309157.4_Missense_Mutation_p.D223N|RORA_ENST00000449337.2_Missense_Mutation_p.D143N|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000560004.1_5'Flank	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	198	Hinge.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|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)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						CTGAGGTCGTCGTGAAGTTCC	0.617																																																	0													203.0	147.0	166.0					15																	60803653		2203	4300	6503	SO:0001583	missense	6095			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.592G>A	15.37:g.60803653C>T	ENSP00000335087:p.Asp198Asn		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.D231N	ENST00000335670.6	37	c.691	CCDS10177.1	15	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368418	0.61513	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.94497	-3.4;-3.39;-3.44;-3.35	5.9	5.9	0.94986	.	0.170493	0.64402	D	0.000007	D	0.88880	0.6557	N	0.12663	0.25	0.80722	D	1	B;B;B;B	0.32051	0.354;0.001;0.005;0.103	B;B;B;B	0.32624	0.149;0.002;0.002;0.036	D	0.85918	0.1444	10	0.13470	T	0.59	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	198;223;231;143	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	N	198;143;223;231	ENSP00000335087:D198N;ENSP00000402971:D143N;ENSP00000309753:D223N;ENSP00000261523:D231N	ENSP00000261523:D231N	D	-	1	0	RORA	58590945	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.476000	0.81055	2.788000	0.95919	0.650000	0.86243	GAC	RORA	-	NULL		0.617	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RORA	HGNC	protein_coding	OTTHUMT00000256142.2	C			60803653	-1	no_errors	ENST00000261523	ensembl	human	known	70_37	missense	SNP	1.000	T
RORC	6097	genome.wustl.edu	37	1	151783995	151783995	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:151783995C>T	ENST00000318247.6	-	10	1393				RORC_ENST00000356728.6_Intron|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Intron	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)			TTGTGGACATCTGTGCTGGAT	0.507																																																	0																																										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.1286-85G>A	1.37:g.151783995C>T			Q5SZR9|Q8N5V7|Q8NCY8	RNA	SNP	-	NULL	ENST00000318247.6	37	NULL	CCDS1004.1	1																																																																																			RORC	-	-		0.507	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	C			151783995	-1	no_errors	ENST00000480719	ensembl	human	known	70_37	rna	SNP	0.001	T
RPGR	6103	genome.wustl.edu	37	X	38156574	38156574	+	Silent	SNP	G	G	C	rs62653029		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:38156574G>C	ENST00000339363.3	-	11	1544	c.1377C>G	c.(1375-1377)gtC>gtG	p.V459V	RPGR_ENST00000338898.3_Silent_p.V459V|RPGR_ENST00000378505.2_Silent_p.V459V|RPGR_ENST00000309513.3_Silent_p.V397V|RPGR_ENST00000342811.3_Silent_p.V459V|RPGR_ENST00000318842.7_Silent_p.V459V|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	459					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTTCAGATAAGACACTCTCTT	0.443																																																	0													118.0	108.0	111.0					X																	38156574		2202	4300	6502	SO:0001819	synonymous_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1377C>G	X.37:g.38156574G>C			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.V459	ENST00000339363.3	37	c.1377		X																																																																																			RPGR	-	NULL		0.443	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		G	NM_000328		38156574	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	silent	SNP	0.000	C
RPH3A	22895	genome.wustl.edu	37	12	113325694	113325694	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:113325694A>C	ENST00000389385.4	+	17	2026	c.1529A>C	c.(1528-1530)aAg>aCg	p.K510T	RPH3A_ENST00000548866.1_Missense_Mutation_p.K461T|RPH3A_ENST00000447659.2_Missense_Mutation_p.K461T|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.K510T|RPH3A_ENST00000543106.2_Missense_Mutation_p.K510T|RPH3A_ENST00000551052.1_Missense_Mutation_p.K506T|RPH3A_ENST00000415485.3_Missense_Mutation_p.K510T	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	510					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AACCAGAGGAAGAATTTCAAC	0.512																																																	0													156.0	160.0	158.0					12																	113325694		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1529A>C	12.37:g.113325694A>C	ENSP00000374036:p.Lys510Thr		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.K510T	ENST00000389385.4	37	c.1529	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400564	0.83120	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.2	5.2	0.72013	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000017	T	0.25344	0.0616	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.60575	0.988;0.98;0.98;0.988	D;P;P;D	0.64877	0.93;0.897;0.897;0.93	T	0.00780	-1.1569	10	0.39692	T	0.17	.	14.0751	0.64885	1.0:0.0:0.0:0.0	.	461;510;510;506	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	T	510;510;461;506;510;461;510;162	ENSP00000440384:K510T;ENSP00000374036:K510T;ENSP00000413254:K461T;ENSP00000448297:K506T;ENSP00000405357:K510T;ENSP00000450347:K461T;ENSP00000408889:K510T	ENSP00000374036:K510T	K	+	2	0	RPH3A	111810077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.166000	0.77553	1.978000	0.57642	0.482000	0.46254	AAG	RPH3A	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.512	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	A	NM_014954		113325694	+1	no_errors	ENST00000389385	ensembl	human	known	70_37	missense	SNP	1.000	C
RPL11	6135	genome.wustl.edu	37	1	24022863	24022863	+	Nonstop_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:24022863A>C	ENST00000374550.3	+	6	582	c.537A>C	c.(535-537)taA>taC	p.*179Y	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	0					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)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|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 large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CTGGCAAATAAATTCCCGTTT	0.383																																																	0													79.0	76.0	77.0					1																	24022863		2203	4300	6503	SO:0001578	stop_lost	6135			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.537A>C	1.37:g.24022863A>C	ENSP00000363676:p.*179Tyrext*?		P25121|P39026|Q8TDH2|Q9Y674	Nonstop_Mutation	SNP	pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5	p.*179Y	ENST00000374550.3	37	c.537	CCDS238.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991807	0.74703	.	.	ENSG00000142676	ENST00000374550	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0063	0.80363	1.0:0.0:0.0:0.0	.	.	.	.	Y	179	.	.	X	+	3	2	RPL11	23895450	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.672000	0.74477	2.194000	0.70268	0.528000	0.53228	TAA	RPL11	-	NULL		0.383	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL11	HGNC	protein_coding	OTTHUMT00000008168.1	A	NM_000975		24022863	+1	no_errors	ENST00000374550	ensembl	human	known	70_37	nonstop	SNP	1.000	C
PARP2	10038	genome.wustl.edu	37	14	20811630	20811630	+	5'Flank	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:20811630T>G	ENST00000250416.5	+	0	0				PARP2_ENST00000527915.1_5'Flank|RPPH1_ENST00000554988.1_RNA|PARP2_ENST00000429687.3_5'Flank|RP11-203M5.2_ENST00000528210.1_RNA	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2						base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CATTTCACGTTTATGGTGATT	0.532								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0																																										SO:0001631	upstream_gene_variant	85495			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106		14.37:g.20811630T>G	Exception_encountered		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	RNA	SNP	-	NULL	ENST00000250416.5	37	NULL	CCDS41910.1	14																																																																																			RPPH1	-	-		0.532	PARP2-002	KNOWN	basic|CCDS	protein_coding	RPPH1	Clone_based_vega_gene	protein_coding	OTTHUMT00000387847.2	T			20811630	-1	no_errors	ENST00000554988	ensembl	human	known	70_37	rna	SNP	0.000	G
RPS4X	6191	genome.wustl.edu	37	X	71494328	71494328	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:71494328A>C	ENST00000316084.6	-	5	465				RPS4X_ENST00000373626.3_Intron|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					CAATTAAATTAACCTTCATTT	0.353																																																	0																																										SO:0001627	intron_variant	6191				CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.361-506T>G	X.37:g.71494328A>C			P12631|P12750|P27576|P55831|Q14727|Q6IPY4	RNA	SNP	-	NULL	ENST00000316084.6	37	NULL	CCDS14418.1	X																																																																																			RPS4X	-	-		0.353	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS4X	HGNC	protein_coding	OTTHUMT00000057188.1	A	NM_001007		71494328	-1	no_errors	ENST00000486733	ensembl	human	known	70_37	rna	SNP	0.919	C
RPS6	6194	genome.wustl.edu	37	9	19378854	19378854	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:19378854G>T	ENST00000380394.4	-	3	259	c.201C>A	c.(199-201)gtC>gtA	p.V67V	RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000380384.1_Silent_p.V36V|RPS6_ENST00000380381.3_3'UTR|RPS6_ENST00000315377.4_Silent_p.V36V|RPS6_ENST00000498815.1_5'Flank	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	67					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|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)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		CATGGGTCAAGACACCCTGCT	0.478																																																	0													37.0	35.0	36.0					9																	19378854		2203	4300	6503	SO:0001819	synonymous_variant	6194				CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.201C>A	9.37:g.19378854G>T			P08227|P10660|Q4VBY7|Q8N6Z7	Silent	SNP	pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk	p.V67	ENST00000380394.4	37	c.201	CCDS6492.1	9																																																																																			RPS6	-	pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk		0.478	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6	HGNC	protein_coding	OTTHUMT00000051858.1	G	NM_001010		19378854	-1	no_errors	ENST00000380394	ensembl	human	known	70_37	silent	SNP	1.000	T
RPS6KA4	8986	genome.wustl.edu	37	11	64127764	64127764	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:64127764G>A	ENST00000334205.4	+	3	322	c.257G>A	c.(256-258)cGc>cAc	p.R86H	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R86H|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R86H	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	86	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CGCACCGAGCGCTCGGTGCTG	0.687																																																	0													12.0	10.0	11.0					11																	64127764		1998	3961	5959	SO:0001583	missense	8986			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.257G>A	11.37:g.64127764G>A	ENSP00000333896:p.Arg86His		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.R86H	ENST00000334205.4	37	c.257	CCDS8073.1	11	.	.	.	.	.	.	.	.	.	.	g	19.20	3.782337	0.70222	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	4.08	4.08	0.47627	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	0.50274	0.1606	M	0.74467	2.265	0.51482	D	0.999929	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.79784	0.826;0.993;0.993;0.988	T	0.56571	-0.7957	10	0.87932	D	0	.	14.5599	0.68128	0.0:0.0:1.0:0.0	.	86;86;86;86	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	H	86;86;86;70	ENSP00000435580:R86H;ENSP00000333896:R86H;ENSP00000294261:R86H;ENSP00000432945:R70H	ENSP00000294261:R86H	R	+	2	0	RPS6KA4	63884340	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	6.303000	0.72794	2.228000	0.72767	0.563000	0.77884	CGC	RPS6KA4	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.687	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA4	HGNC	protein_coding	OTTHUMT00000106246.2	G	NM_003942		64127764	+1	no_errors	ENST00000334205	ensembl	human	known	70_37	missense	SNP	1.000	A
RPS6KA5	9252	genome.wustl.edu	37	14	91340105	91340105	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:91340105T>G	ENST00000261991.3	-	16	2204	c.2031A>C	c.(2029-2031)aaA>aaC	p.K677N	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.K598N	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	677	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AGCCAGACATTTTAAGCCTTT	0.388																																																	0													231.0	225.0	227.0					14																	91340105		2203	4300	6503	SO:0001583	missense	9252			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2031A>C	14.37:g.91340105T>G	ENSP00000261991:p.Lys677Asn		O95316|Q96AF7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.K677N	ENST00000261991.3	37	c.2031	CCDS9893.1	14	.	.	.	.	.	.	.	.	.	.	T	14.58	2.576657	0.45902	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.47869	0.83;0.83	5.56	1.94	0.25998	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	0.26702	0.0653	N	0.11201	0.11	0.80722	D	1	B	0.22080	0.064	B	0.20767	0.031	T	0.04737	-1.0930	10	0.51188	T	0.08	.	9.455	0.38750	0.0:0.3504:0.0:0.6496	.	677	O75582	KS6A5_HUMAN	N	677;598	ENSP00000261991:K677N;ENSP00000442803:K598N	ENSP00000261991:K677N	K	-	3	2	RPS6KA5	90409858	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.217000	0.42880	0.092000	0.17331	-0.256000	0.11100	AAA	RPS6KA5	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.388	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2	T	NM_004755		91340105	-1	no_errors	ENST00000261991	ensembl	human	known	70_37	missense	SNP	1.000	G
RPS6KC1	26750	genome.wustl.edu	37	1	213251114	213251114	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:213251114G>A	ENST00000366960.3	+	3	368	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R61Q|RPS6KC1_ENST00000543354.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	73	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AACTTATTCCGACATTCAGAG	0.259																																																	0													85.0	87.0	86.0					1																	213251114		2202	4295	6497	SO:0001583	missense	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.218G>A	1.37:g.213251114G>A	ENSP00000355927:p.Arg73Gln		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.R73Q	ENST00000366960.3	37	c.218	CCDS1513.1	1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091233	0.55968	.	.	ENSG00000136643	ENST00000366960;ENST00000366959	T;T	0.35421	1.31;1.31	5.4	4.47	0.54385	Phox homologous domain (5);	0.128831	0.52532	D	0.000078	T	0.26991	0.0661	L	0.56280	1.765	0.80722	D	1	P;P	0.47841	0.901;0.901	B;B	0.34722	0.188;0.188	T	0.05632	-1.0873	10	0.34782	T	0.22	-22.6554	8.5163	0.33248	0.0774:0.0:0.7683:0.1543	.	73;61	Q96S38;B1APS8	KS6C1_HUMAN;.	Q	73;61	ENSP00000355927:R73Q;ENSP00000355926:R61Q	ENSP00000355926:R61Q	R	+	2	0	RPS6KC1	211317737	1.000000	0.71417	0.926000	0.36857	0.988000	0.76386	5.555000	0.67301	1.224000	0.43551	0.655000	0.94253	CGA	RPS6KC1	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.259	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	G	NM_012424		213251114	+1	no_errors	ENST00000366960	ensembl	human	known	70_37	missense	SNP	0.998	A
RPS6KL1	83694	genome.wustl.edu	37	14	75377988	75377988	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:75377988G>A	ENST00000555647.1	-	7	914	c.627C>T	c.(625-627)agC>agT	p.S209S	RPS6KL1_ENST00000358328.4_Silent_p.S209S|RPS6KL1_ENST00000557413.1_Silent_p.S209S|RPS6KL1_ENST00000354625.2_Silent_p.S178S|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TGGAGTCCTCGCTCACAAAGT	0.607																																																	0													117.0	106.0	110.0					14																	75377988		2203	4300	6503	SO:0001819	synonymous_variant	83694			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.627C>T	14.37:g.75377988G>A			A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S209	ENST00000555647.1	37	c.627	CCDS9834.2	14																																																																																			RPS6KL1	-	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		0.607	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	G			75377988	-1	no_errors	ENST00000358328	ensembl	human	known	70_37	silent	SNP	0.718	A
Unknown	0	genome.wustl.edu	37	16	21823710	21823710	+	IGR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:21823710T>G								RRN3P1 (4652 upstream) : NPIPB4 (22179 downstream)																							CCACTACTGTTTGACTTCTAT	0.373																																																	0																																										SO:0001628	intergenic_variant	730092																															16.37:g.21823710T>G				RNA	SNP	-	NULL		37	NULL		16																																																																																			RRN3P1	-	-	0	0.373					RRN3P1	HGNC			T			21823710	-1	no_errors	ENST00000551681	ensembl	human	known	70_37	rna	SNP	0.998	G
RSAD2	91543	genome.wustl.edu	37	2	7036006	7036006	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:7036006A>G	ENST00000382040.3	+	6	1155	c.1019A>G	c.(1018-1020)gAa>gGa	p.E340G	RSAD2_ENST00000541728.1_Missense_Mutation_p.E233G	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GGATTTGATGAAAAGATGTTT	0.443																																																	0													88.0	84.0	85.0					2																	7036006		2203	4300	6503	SO:0001583	missense	91543			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.1019A>G	2.37:g.7036006A>G	ENSP00000371471:p.Glu340Gly			Missense_Mutation	SNP	pfam_rSAM,smart_Elp3/MiaB/NifB	p.E340G	ENST00000382040.3	37	c.1019	CCDS1656.1	2	.	.	.	.	.	.	.	.	.	.	A	28.0	4.877792	0.91664	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	T	0.34859	1.34	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.70107	-0.4963	10	0.66056	D	0.02	-42.3149	16.0284	0.80558	1.0:0.0:0.0:0.0	.	340	Q8WXG1	RSAD2_HUMAN	G	340;233	ENSP00000371471:E340G	ENSP00000371471:E340G	E	+	2	0	RSAD2	6953457	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	8.799000	0.91895	2.253000	0.74438	0.533000	0.62120	GAA	RSAD2	-	NULL		0.443	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD2	HGNC	protein_coding	OTTHUMT00000206724.2	A	NM_080657		7036006	+1	no_errors	ENST00000382040	ensembl	human	known	70_37	missense	SNP	1.000	G
RTF1	23168	genome.wustl.edu	37	15	41772871	41772871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:41772871C>T	ENST00000389629.4	+	18	2131	c.2119C>T	c.(2119-2121)Cga>Tga	p.R707*		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	707					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CAAAAAACGACGAGGGCTTAT	0.542																																																	0													68.0	68.0	68.0					15																	41772871		2203	4300	6503	SO:0001587	stop_gained	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.2119C>T	15.37:g.41772871C>T	ENSP00000374280:p.Arg707*		Q96BX6	Nonsense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.R707*	ENST00000389629.4	37	c.2119	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	C	35	5.582536	0.96578	.	.	ENSG00000137815	ENST00000389629	.	.	.	4.51	4.51	0.55191	.	0.054671	0.64402	D	0.000001	.	.	.	.	.	.	0.26791	N	0.969406	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8659	11.6484	0.51273	0.177:0.823:0.0:0.0	.	.	.	.	X	707	.	ENSP00000374280:R707X	R	+	1	2	RTF1	39560163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.313000	0.51935	2.352000	0.79861	0.557000	0.71058	CGA	RTF1	-	NULL		0.542	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	C	NM_015138		41772871	+1	no_errors	ENST00000389629	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RTN1	6252	genome.wustl.edu	37	14	60074026	60074026	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:60074026T>G	ENST00000267484.5	-	4	2285	c.1950A>C	c.(1948-1950)aaA>aaC	p.K650N	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Missense_Mutation_p.K67N|RTN1_ENST00000342503.4_Missense_Mutation_p.K82N	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	650	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTTCGTCGGTTTTCTGCACTG	0.562																																																	0													75.0	65.0	69.0					14																	60074026		2203	4300	6503	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1950A>C	14.37:g.60074026T>G	ENSP00000267484:p.Lys650Asn		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.K650N	ENST00000267484.5	37	c.1950	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061988	0.76187	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.50001	0.76;0.76;0.76	5.99	0.963	0.19649	.	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.996	T	0.74515	-0.3640	10	0.87932	D	0	.	10.3646	0.44015	0.0:0.3602:0.0:0.6398	.	67;650;82	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	N	230;650;67;82;576	ENSP00000267484:K650N;ENSP00000378525:K67N;ENSP00000340716:K82N	ENSP00000267484:K650N	K	-	3	2	RTN1	59143779	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	0.555000	0.23422	-0.035000	0.13691	0.533000	0.62120	AAA	RTN1	-	pfam_Reticulon,pfscan_Reticulon		0.562	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	T			60074026	-1	no_errors	ENST00000267484	ensembl	human	known	70_37	missense	SNP	0.999	G
RTN3	10313	genome.wustl.edu	37	11	63488091	63488091	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:63488091T>G	ENST00000377819.5	+	3	2271	c.2117T>G	c.(2116-2118)aTt>aGt	p.I706S	RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.I687S|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.I594S	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	706					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATTAAAGACATTGGAAGCAAA	0.388																																																	0													54.0	55.0	55.0					11																	63488091		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2117T>G	11.37:g.63488091T>G	ENSP00000367050:p.Ile706Ser		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.I706S	ENST00000377819.5	37	c.2117	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	T	6.669	0.491923	0.12702	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.22539	1.95;1.96;1.96	5.29	-6.71	0.01760	.	1.798860	0.03180	N	0.171882	T	0.10294	0.0252	N	0.24115	0.695	0.09310	N	1	B;B;B	0.28636	0.218;0.139;0.218	B;B;B	0.25140	0.058;0.026;0.058	T	0.23691	-1.0181	10	0.08381	T	0.77	0.4941	6.6102	0.22747	0.2559:0.4916:0.0:0.2525	.	594;706;687	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	S	706;687;594	ENSP00000367050:I706S;ENSP00000344106:I687S;ENSP00000442733:I594S	ENSP00000344106:I687S	I	+	2	0	RTN3	63244667	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.338000	0.02655	-0.838000	0.04218	0.533000	0.62120	ATT	RTN3	-	NULL		0.388	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1	T	NM_006054		63488091	+1	no_errors	ENST00000377819	ensembl	human	known	70_37	missense	SNP	0.000	G
RTN4IP1	84816	genome.wustl.edu	37	6	107076841	107076841	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:107076841A>G	ENST00000369063.3	-	1	521	c.56T>C	c.(55-57)tTc>tCc	p.F19S	QRSL1_ENST00000369044.1_5'Flank|RTN4IP1_ENST00000539449.1_Missense_Mutation_p.F19S|QRSL1_ENST00000369046.4_5'Flank	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	19						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GCTTCTCCAGAAGCAAACCGC	0.423																																																	0													86.0	82.0	84.0					6																	107076841		2203	4300	6503	SO:0001583	missense	84816			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.56T>C	6.37:g.107076841A>G	ENSP00000358059:p.Phe19Ser		Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.F19S	ENST00000369063.3	37	c.56	CCDS5056.1	6	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329935	0.41297	.	.	ENSG00000130347	ENST00000539449;ENST00000369063	T;T	0.43294	0.95;1.99	5.85	3.09	0.35607	.	1.168600	0.05611	N	0.578093	T	0.12732	0.0309	L	0.36672	1.1	0.09310	N	1	B;B	0.14438	0.01;0.008	B;B	0.21151	0.033;0.01	T	0.27872	-1.0061	10	0.13853	T	0.58	-2.5644	5.8045	0.18432	0.7322:0.172:0.0958:0.0	.	19;19	G3V1R2;Q8WWV3	.;RT4I1_HUMAN	S	19	ENSP00000444261:F19S;ENSP00000358059:F19S	ENSP00000358059:F19S	F	-	2	0	RTN4IP1	107183534	0.998000	0.40836	0.971000	0.41717	0.964000	0.63967	1.989000	0.40707	1.005000	0.39183	0.533000	0.62120	TTC	RTN4IP1	-	NULL		0.423	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4IP1	HGNC	protein_coding	OTTHUMT00000041673.1	A			107076841	-1	no_errors	ENST00000369063	ensembl	human	known	70_37	missense	SNP	0.278	G
RUFY3	22902	genome.wustl.edu	37	4	71656969	71656969	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:71656969G>T	ENST00000226328.4	+	13	1928	c.1365G>T	c.(1363-1365)aaG>aaT	p.K455N	RUFY3_ENST00000536664.1_Missense_Mutation_p.K439N|RUFY3_ENST00000502653.1_Intron|RUFY3_ENST00000381006.3_Intron	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	455					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AACAGGCAAAGACCTTAAATA	0.333																																																	0													108.0	101.0	103.0					4																	71656969		2203	4300	6503	SO:0001583	missense	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.1365G>T	4.37:g.71656969G>T	ENSP00000226328:p.Lys455Asn		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run	p.K455N	ENST00000226328.4	37	c.1365	CCDS3547.1	4	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105295	0.37145	.	.	ENSG00000018189	ENST00000226328;ENST00000536664	T;T	0.14391	2.51;2.51	5.77	2.81	0.32909	.	.	.	.	.	T	0.03263	0.0095	N	0.00707	-1.245	0.28079	N	0.932251	P;B	0.34462	0.454;0.281	B;B	0.29785	0.107;0.057	T	0.29488	-1.0010	9	0.25106	T	0.35	.	5.9797	0.19401	0.5138:0.0:0.4862:0.0	.	439;455	B4DKC2;Q7L099	.;RUFY3_HUMAN	N	455;439	ENSP00000226328:K455N;ENSP00000443652:K439N	ENSP00000226328:K455N	K	+	3	2	RUFY3	71875833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.547000	0.45786	0.712000	0.32039	0.650000	0.86243	AAG	RUFY3	-	superfamily_Prefoldin		0.333	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2	G	NM_014961		71656969	+1	no_errors	ENST00000226328	ensembl	human	known	70_37	missense	SNP	1.000	T
RUFY4	285180	genome.wustl.edu	37	2	218938012	218938012	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:218938012G>T	ENST00000344321.7	+	7	951	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_Missense_Mutation_p.R109I|RUFY4_ENST00000374155.3_Nonsense_Mutation_p.E145*	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	145	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.						metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGAACGCCAAGAAGACATCCT	0.577																																																	0													108.0	105.0	106.0					2																	218938012		692	1591	2283	SO:0001587	stop_gained	285180			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.433G>T	2.37:g.218938012G>T	ENSP00000345900:p.Glu145*		Q6ZR96	Nonsense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run	p.E145*	ENST00000344321.7	37	c.433		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.672030|5.672030	0.96754|0.96754	.|.	.|.	ENSG00000188282|ENSG00000188282	ENST00000344321;ENST00000374155|ENST00000441828	.|.	.|.	.|.	4.48|4.48	1.43|1.43	0.22495|0.22495	.|.	0.780519|.	0.10957|.	N|.	0.615372|.	.|T	.|0.34164	.|0.0888	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.24333	.|-1.0163	.|5	0.09843|0.38643	T|T	0.71|0.18	-10.731|-10.731	6.1928|6.1928	0.20534|0.20534	0.1438:0.3327:0.5236:0.0|0.1438:0.3327:0.5236:0.0	.|.	.|.	.|.	.|.	X|I	145|109	.|.	ENSP00000345900:E145X|ENSP00000388839:R109I	E|R	+|+	1|2	0|0	RUFY4|RUFY4	218646257|218646257	0.061000|0.061000	0.20836|0.20836	0.885000|0.885000	0.34714|0.34714	0.384000|0.384000	0.30261|0.30261	1.777000|1.777000	0.38604|0.38604	1.058000|1.058000	0.40530|0.40530	0.591000|0.591000	0.81541|0.81541	GAA|AGA	RUFY4	-	pfam_Run,smart_Run,pfscan_Run		0.577	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	RUFY4	HGNC	protein_coding		G	NM_198483		218938012	+1	no_errors	ENST00000374155	ensembl	human	known	70_37	nonsense	SNP	0.001	T
RUNX2	860	genome.wustl.edu	37	6	45480058	45480058	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:45480058C>T	ENST00000371438.1	+	6	1293	c.935C>T	c.(934-936)tCc>tTc	p.S312F	RUNX2_ENST00000465038.2_Missense_Mutation_p.S312F|RUNX2_ENST00000576263.1_Missense_Mutation_p.S312F|RUNX2_ENST00000371436.6_Missense_Mutation_p.S312F|RUNX2_ENST00000541979.1_Missense_Mutation_p.S380F|RUNX2_ENST00000371432.3_Missense_Mutation_p.S298F|RUNX2_ENST00000352853.5_Missense_Mutation_p.S380F|RUNX2_ENST00000359524.5_Missense_Mutation_p.S298F	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	312	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAGATGACGTCCCCGTCCATC	0.572																																																	0													123.0	100.0	108.0					6																	45480058		2203	4300	6503	SO:0001583	missense	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.935C>T	6.37:g.45480058C>T	ENSP00000360493:p.Ser312Phe		O14614|O14615|O95181	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	p.S380F	ENST00000371438.1	37	c.1139	CCDS43467.2	6	.	.	.	.	.	.	.	.	.	.	C	33	5.274518	0.95459	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	6.06	6.06	0.98353	.	0.095556	0.85682	D	0.000000	D	0.91071	0.7190	M	0.72894	2.215	0.80722	D	1	P;P;D	0.65815	0.704;0.774;0.995	P;B;D	0.65140	0.452;0.352;0.932	D	0.90710	0.4627	10	0.87932	D	0	-0.2548	20.6397	0.99537	0.0:1.0:0.0:0.0	.	380;312;298	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	F	312;380;380;312;312;298;298	ENSP00000420707:S312F;ENSP00000319087:S380F;ENSP00000446290:S380F;ENSP00000360493:S312F;ENSP00000360491:S312F;ENSP00000352514:S298F;ENSP00000360486:S298F	ENSP00000319087:S380F	S	+	2	0	RUNX2	45588036	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	7.447000	0.80620	2.880000	0.98712	0.650000	0.86243	TCC	RUNX2	-	NULL		0.572	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	C	NM_004348		45480058	+1	no_errors	ENST00000352853	ensembl	human	known	70_37	missense	SNP	1.000	T
RYR2	6262	genome.wustl.edu	37	1	237870322	237870322	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:237870322C>T	ENST00000366574.2	+	68	9971	c.9654C>T	c.(9652-9654)atC>atT	p.I3218I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.I3216I|RYR2_ENST00000542537.1_Silent_p.I3202I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3218					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)	p.I3216I(1)|p.I3218I(1)		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)			TGGAAGAAATCGTGGAATTAG	0.453																																																	2	Substitution - coding silent(2)	prostate(2)											130.0	127.0	128.0					1																	237870322		1940	4154	6094	SO:0001819	synonymous_variant	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.9654C>T	1.37:g.237870322C>T			Q15411|Q546N8|Q5T3P2	Silent	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.I3216	ENST00000366574.2	37	c.9648	CCDS55691.1	1																																																																																			RYR2	-	NULL		0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237870322	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	0.124	T
RYR2	6262	genome.wustl.edu	37	1	237905645	237905645	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:237905645T>C	ENST00000366574.2	+	80	11458	c.11141T>C	c.(11140-11142)tTt>tCt	p.F3714S	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.F3712S|RYR2_ENST00000542537.1_Missense_Mutation_p.F3698S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3714					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)			GTGAAGAGTTTTGAAGTAAGA	0.318																																																	0													204.0	219.0	215.0					1																	237905645		1896	4100	5996	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.11141T>C	1.37:g.237905645T>C	ENSP00000355533:p.Phe3714Ser		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.F3712S	ENST00000366574.2	37	c.11135	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.716178	0.48622	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96940	-4.18;-4.02;-4.17	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000003	D	0.97480	0.9175	M	0.77616	2.38	0.80722	D	1	D;B	0.76494	0.999;0.113	D;B	0.79784	0.993;0.018	D	0.96833	0.9612	10	0.11485	T	0.65	-16.6182	14.048	0.64716	0.0:0.0:0.0:1.0	.	669;3714	B4DGV4;Q92736	.;RYR2_HUMAN	S	3714;3712;3698;669	ENSP00000355533:F3714S;ENSP00000353174:F3712S;ENSP00000443798:F3698S	ENSP00000353174:F3712S	F	+	2	0	RYR2	235972268	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.244000	0.65400	2.250000	0.74265	0.477000	0.44152	TTT	RYR2	-	NULL		0.318	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	T	NM_001035		237905645	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	C
RYR3	6263	genome.wustl.edu	37	15	33944986	33944986	+	Missense_Mutation	SNP	C	C	T	rs367755953		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:33944986C>T	ENST00000389232.4	+	32	4280	c.4210C>T	c.(4210-4212)Cgg>Tgg	p.R1404W	RYR3_ENST00000415757.3_Missense_Mutation_p.R1404W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1404	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		GAGATCAAATCGGAGCAACGT	0.537																																																	0								C	TRP/ARG	1,4055		0,1,2027	105.0	107.0	107.0		4210	5.5	1.0	15		107	0,8406		0,0,4203	no	missense	RYR3	NM_001036.3	101	0,1,6230	TT,TC,CC		0.0,0.0247,0.0080	probably-damaging	1404/4871	33944986	1,12461	2028	4203	6231	SO:0001583	missense	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.4210C>T	15.37:g.33944986C>T	ENSP00000373884:p.Arg1404Trp		O15175|Q15412	Missense_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.R1404W	ENST00000389232.4	37	c.4210	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680736	0.88542	2.47E-4	0.0	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96940	-4.18;-4.18	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	L	0.55481	1.735	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.975;0.997	D	0.97267	0.9908	10	0.66056	D	0.02	.	15.1593	0.72771	0.0:0.8595:0.1404:0.0	.	1404;1404	Q15413-2;Q15413	.;RYR3_HUMAN	W	1404	ENSP00000373884:R1404W;ENSP00000399610:R1404W	ENSP00000354735:R1404W	R	+	1	2	RYR3	31732278	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.730000	0.62015	2.866000	0.98385	0.650000	0.86243	CGG	RYR3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			33944986	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	T
SAA3P	6290	genome.wustl.edu	37	11	18134228	18134228	+	RNA	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18134228T>G	ENST00000534768.1	-	0	432					NR_026576.1				serum amyloid A3 pseudogene											lung(2)	2						CTGGCCCCATTTGTTGGTAGC	0.552																																																	0																																												6290			S73444		11p15.1	2014-06-05			ENSG00000166787	ENSG00000166787			10515	pseudogene	pseudogene				SAA3		8325654, 2558975	Standard	NR_026576		Approved		uc001mnt.3		OTTHUMG00000166433		11.37:g.18134228T>G				RNA	SNP	-	NULL	ENST00000534768.1	37	NULL		11																																																																																			SAA3P	-	-		0.552	SAA3P-002	KNOWN	basic	processed_transcript	SAA3P	HGNC	pseudogene	OTTHUMT00000389765.1	T			18134228	-1	no_errors	ENST00000534768	ensembl	human	known	70_37	rna	SNP	0.001	G
SAGE1	55511	genome.wustl.edu	37	X	134991912	134991912	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:134991912T>C	ENST00000370709.3	+	13	1697	c.1697T>C	c.(1696-1698)aTt>aCt	p.I566T	SAGE1_ENST00000324447.3_Missense_Mutation_p.I566T|SAGE1_ENST00000535938.1_Missense_Mutation_p.I566T|SAGE1_ENST00000537770.1_Missense_Mutation_p.I190T			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	566						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTAGCTGGTATTCCGGCCATG	0.413																																																	0													151.0	129.0	137.0					X																	134991912		2203	4300	6503	SO:0001583	missense	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1697T>C	X.37:g.134991912T>C	ENSP00000359743:p.Ile566Thr		Q5JNW0	Missense_Mutation	SNP	NULL	p.I566T	ENST00000370709.3	37	c.1697	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	T	3.436	-0.115152	0.06881	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.38887	1.48;1.48;1.11;1.48	0.959	-0.427	0.12310	.	0.000000	0.85682	U	0.000000	T	0.27241	0.0668	N	0.24115	0.695	0.09310	N	1	B;P	0.46395	0.12;0.877	B;P	0.47470	0.219;0.548	T	0.12785	-1.0534	10	0.41790	T	0.15	.	3.0204	0.06073	0.0:0.3161:0.0:0.6839	.	190;566	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	T	566;566;190;566	ENSP00000323191:I566T;ENSP00000445959:I566T;ENSP00000438276:I190T;ENSP00000359743:I566T	ENSP00000323191:I566T	I	+	2	0	SAGE1	134819578	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	1.459000	0.35234	-0.191000	0.10448	-0.892000	0.02923	ATT	SAGE1	-	NULL		0.413	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	T	NM_018666		134991912	+1	no_errors	ENST00000324447	ensembl	human	known	70_37	missense	SNP	0.000	C
SAGE1	55511	genome.wustl.edu	37	X	134994537	134994537	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:134994537G>T	ENST00000370709.3	+	18	2579	c.2579G>T	c.(2578-2580)aGa>aTa	p.R860I	SAGE1_ENST00000324447.3_Missense_Mutation_p.R860I|SAGE1_ENST00000535938.1_Missense_Mutation_p.R860I|SAGE1_ENST00000537770.1_Missense_Mutation_p.R484I			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	860						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAAGTCAAGAGACAATTTGTT	0.343																																																	0													123.0	119.0	120.0					X																	134994537		2202	4300	6502	SO:0001583	missense	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2579G>T	X.37:g.134994537G>T	ENSP00000359743:p.Arg860Ile		Q5JNW0	Missense_Mutation	SNP	NULL	p.R860I	ENST00000370709.3	37	c.2579	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321662	0.41096	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.32272	1.46;1.46;1.5;1.46	2.31	-0.704	0.11256	.	0.363715	0.30302	U	0.009940	T	0.17959	0.0431	N	0.22421	0.69	0.37222	D	0.905281	D;B	0.55605	0.972;0.444	P;B	0.46110	0.504;0.098	T	0.15263	-1.0443	10	0.52906	T	0.07	.	3.0792	0.06256	0.6534:0.0:0.1353:0.2112	.	484;860	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	I	860;860;484;860	ENSP00000323191:R860I;ENSP00000445959:R860I;ENSP00000438276:R484I;ENSP00000359743:R860I	ENSP00000323191:R860I	R	+	2	0	SAGE1	134822203	0.009000	0.17119	0.487000	0.27428	0.551000	0.35334	0.138000	0.16016	-0.392000	0.07751	0.179000	0.17066	AGA	SAGE1	-	NULL		0.343	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	G	NM_018666		134994537	+1	no_errors	ENST00000324447	ensembl	human	known	70_37	missense	SNP	0.711	T
SAMD12	401474	genome.wustl.edu	37	8	119391662	119391662	+	Missense_Mutation	SNP	C	C	A	rs372144053		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:119391662C>A	ENST00000314727.4	-	4	736	c.600G>T	c.(598-600)caG>caT	p.Q200H	SAMD12_ENST00000409003.4_Intron|SAMD12_ENST00000527515.1_Intron|AC023590.1_ENST00000430457.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	200										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AATCTTAAATCTGTATACTAT	0.348																																																	0								C	,HIS/GLN	0,4406		0,0,2203	42.0	44.0	43.0		,600	1.6	0.0	8		43	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	SAMD12	NM_001101676.1,NM_207506.2	,24	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,benign	,200/202	119391662	1,13005	2203	4300	6503	SO:0001583	missense	401474			AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"""Sterile alpha motif (SAM) domain containing"""	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.600G>T	8.37:g.119391662C>A	ENSP00000314173:p.Gln200His		Q0P502	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Q200H	ENST00000314727.4	37	c.600	CCDS6325.1	8	.	.	.	.	.	.	.	.	.	.	C	9.056	0.993370	0.19043	0.0	1.16E-4	ENSG00000177570	ENST00000314727	.	.	.	2.88	1.59	0.23543	.	6.167390	0.00744	U	0.001030	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	B	0.24483	0.104	B	0.12156	0.007	T	0.15838	-1.0423	8	.	.	.	.	6.9993	0.24801	0.4196:0.5804:0.0:0.0	.	200	Q8N8I0	SAM12_HUMAN	H	200	.	.	Q	-	3	2	SAMD12	119460843	0.001000	0.12720	0.007000	0.13788	0.041000	0.13682	0.359000	0.20233	0.459000	0.27016	0.650000	0.86243	CAG	SAMD12	-	NULL		0.348	SAMD12-001	KNOWN	basic|CCDS	protein_coding	SAMD12	HGNC	protein_coding	OTTHUMT00000132989.3	C	NM_207506		119391662	-1	no_errors	ENST00000314727	ensembl	human	known	70_37	missense	SNP	0.006	A
SAMD15	161394	genome.wustl.edu	37	14	77844148	77844148	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:77844148G>A	ENST00000216471.4	+	1	673	c.387G>A	c.(385-387)acG>acA	p.T129T	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	129										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGATGAAACGCATAAAGAGT	0.468																																																	0													125.0	137.0	133.0					14																	77844148		2203	4300	6503	SO:0001819	synonymous_variant	161394			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.387G>A	14.37:g.77844148G>A			Q2M3P3	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T129	ENST00000216471.4	37	c.387	CCDS32126.1	14																																																																																			SAMD15	-	NULL		0.468	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD15	HGNC	protein_coding	OTTHUMT00000394587.2	G	NM_001010860		77844148	+1	no_errors	ENST00000216471	ensembl	human	known	70_37	silent	SNP	0.000	A
SAMD9	54809	genome.wustl.edu	37	7	92733737	92733737	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:92733737C>A	ENST00000379958.2	-	3	1943	c.1674G>T	c.(1672-1674)gaG>gaT	p.E558D		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	558						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CACAGAAAGTCTCAATGAGGG	0.398																																																	0													95.0	96.0	95.0					7																	92733737		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1674G>T	7.37:g.92733737C>A	ENSP00000369292:p.Glu558Asp		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E558D	ENST00000379958.2	37	c.1674	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201413	0.38905	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.10192	2.9;2.9	4.35	1.53	0.23141	.	0.000000	0.64402	U	0.000018	T	0.16300	0.0392	L	0.61036	1.89	0.25926	N	0.983058	D	0.56035	0.974	P	0.52957	0.714	T	0.08994	-1.0695	10	0.27785	T	0.31	.	7.3136	0.26488	0.0:0.6335:0.0:0.3665	.	558	Q5K651	SAMD9_HUMAN	D	558	ENSP00000369292:E558D;ENSP00000414529:E558D	ENSP00000369292:E558D	E	-	3	2	SAMD9	92571673	0.627000	0.27129	0.999000	0.59377	0.776000	0.43924	-0.204000	0.09425	0.209000	0.20645	0.603000	0.83216	GAG	SAMD9	-	NULL		0.398	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	C	NM_017654		92733737	-1	no_errors	ENST00000379958	ensembl	human	known	70_37	missense	SNP	1.000	A
SAMD9	54809	genome.wustl.edu	37	7	92735170	92735170	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:92735170C>A	ENST00000379958.2	-	3	510	c.241G>T	c.(241-243)Gat>Tat	p.D81Y		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	81						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAATCGAATCTTCAATGGCT	0.373																																																	0													162.0	160.0	161.0					7																	92735170		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.241G>T	7.37:g.92735170C>A	ENSP00000369292:p.Asp81Tyr		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D81Y	ENST00000379958.2	37	c.241	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	9.853	1.194102	0.22037	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.23754	1.89;2.7	4.6	-1.92	0.07618	.	1.084970	0.07229	N	0.862159	T	0.15219	0.0367	N	0.22421	0.69	0.09310	N	1	P	0.42785	0.79	B	0.38500	0.275	T	0.24190	-1.0167	10	0.49607	T	0.09	.	6.1642	0.20380	0.1447:0.2554:0.0:0.5999	.	81	Q5K651	SAMD9_HUMAN	Y	81	ENSP00000369292:D81Y;ENSP00000414529:D81Y	ENSP00000369292:D81Y	D	-	1	0	SAMD9	92573106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.208000	0.03005	-0.177000	0.10690	-0.924000	0.02725	GAT	SAMD9	-	NULL		0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	C	NM_017654		92735170	-1	no_errors	ENST00000379958	ensembl	human	known	70_37	missense	SNP	0.000	A
SAMD9	54809	genome.wustl.edu	37	7	92735353	92735353	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:92735353T>G	ENST00000379958.2	-	3	327	c.58A>C	c.(58-60)Aat>Cat	p.N20H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	20	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AACCACTGATTTACATCCTCT	0.323																																																	0													85.0	84.0	85.0					7																	92735353		2202	4299	6501	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.58A>C	7.37:g.92735353T>G	ENSP00000369292:p.Asn20His		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.N20H	ENST00000379958.2	37	c.58	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	T	14.41	2.528315	0.44969	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.41400	1.0;1.0	4.79	3.56	0.40772	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.323144	0.28171	N	0.016329	T	0.31167	0.0788	L	0.34521	1.04	0.09310	N	0.99999	B	0.31256	0.316	B	0.31495	0.131	T	0.30909	-0.9962	10	0.59425	D	0.04	.	10.3406	0.43875	0.1474:0.0:0.0:0.8526	.	20	Q5K651	SAMD9_HUMAN	H	20	ENSP00000369292:N20H;ENSP00000414529:N20H	ENSP00000369292:N20H	N	-	1	0	SAMD9	92573289	0.072000	0.21174	0.992000	0.48379	0.728000	0.41692	2.530000	0.45641	2.149000	0.67028	0.491000	0.48974	AAT	SAMD9	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.323	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	T	NM_017654		92735353	-1	no_errors	ENST00000379958	ensembl	human	known	70_37	missense	SNP	0.535	G
SAMD9L	219285	genome.wustl.edu	37	7	92764218	92764218	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:92764218G>A	ENST00000318238.4	-	5	2283	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S356F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S356F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	356					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCGTTGCTTGGAATTGGCCAG	0.368																																																	0													132.0	142.0	139.0					7																	92764218		2203	4300	6503	SO:0001583	missense	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1067C>T	7.37:g.92764218G>A	ENSP00000326247:p.Ser356Phe		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,pfscan_SAM	p.S356F	ENST00000318238.4	37	c.1067	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	G	1.663	-0.510895	0.04231	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.20463	2.07;2.07;2.07	4.55	-6.55	0.01854	.	3.427890	0.01466	N	0.016065	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.21151	0.033	T	0.17137	-1.0379	10	0.56958	D	0.05	5.7495	0.4931	0.00567	0.2391:0.2911:0.2219:0.2479	.	356	Q8IVG5	SAM9L_HUMAN	F	356	ENSP00000326247:S356F;ENSP00000405760:S356F;ENSP00000408796:S356F	ENSP00000326247:S356F	S	-	2	0	SAMD9L	92602154	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.327000	0.02682	-1.597000	0.01609	-0.384000	0.06662	TCC	SAMD9L	-	NULL		0.368	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	G	NM_152703		92764218	-1	no_errors	ENST00000318238	ensembl	human	known	70_37	missense	SNP	0.000	A
SARDH	1757	genome.wustl.edu	37	9	136555521	136555521	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:136555521T>G	ENST00000371872.4	-	16	2307	c.2050A>C	c.(2050-2052)Agt>Cgt	p.S684R	SARDH_ENST00000422262.2_Missense_Mutation_p.S516R|SARDH_ENST00000439388.1_Missense_Mutation_p.S684R|SARDH_ENST00000371868.1_Missense_Mutation_p.S112R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	684					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCCTGGATACTGATCATACCC	0.652																																																	0													59.0	57.0	58.0					9																	136555521		2203	4300	6503	SO:0001583	missense	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2050A>C	9.37:g.136555521T>G	ENSP00000360938:p.Ser684Arg		B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.S684R	ENST00000371872.4	37	c.2050	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211959	0.79240	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.03	5.03	0.67393	Glycine cleavage T-protein, N-terminal (1);	0.038756	0.85682	D	0.000000	D	0.87030	0.6076	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.89056	0.3459	10	0.66056	D	0.02	-28.1475	14.4069	0.67088	0.0:0.0:0.0:1.0	.	684;112	Q9UL12;Q5SYV2	SARDH_HUMAN;.	R	684;112;684;516	ENSP00000360938:S684R;ENSP00000360934:S112R;ENSP00000403084:S684R;ENSP00000415537:S516R	ENSP00000360934:S112R	S	-	1	0	SARDH	135545342	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.632000	0.83247	1.882000	0.54519	0.402000	0.26972	AGT	SARDH	-	pfam_GCV_T_N		0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	T			136555521	-1	no_errors	ENST00000371872	ensembl	human	known	70_37	missense	SNP	1.000	G
SASH1	23328	genome.wustl.edu	37	6	148840845	148840845	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:148840845A>G	ENST00000367467.3	+	10	1500	c.1025A>G	c.(1024-1026)gAc>gGc	p.D342G		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	342					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGCAGCCTGGACACCTGGGGG	0.567																																																	0													55.0	58.0	57.0					6																	148840845		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1025A>G	6.37:g.148840845A>G	ENSP00000356437:p.Asp342Gly		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.D342G	ENST00000367467.3	37	c.1025	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387488	0.61956	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.44881	0.91	5.43	5.43	0.79202	.	0.143380	0.64402	D	0.000007	T	0.15522	0.0374	N	0.20986	0.625	0.50313	D	0.999865	B;B	0.20052	0.041;0.041	B;B	0.17722	0.019;0.019	T	0.06607	-1.0817	10	0.48119	T	0.1	-14.2263	9.9203	0.41459	0.9241:0.0:0.0759:0.0	.	323;342	Q6P4R9;O94885	.;SASH1_HUMAN	G	342;103	ENSP00000356437:D342G	ENSP00000356437:D342G	D	+	2	0	SASH1	148882538	1.000000	0.71417	0.918000	0.36340	0.989000	0.77384	7.162000	0.77515	2.061000	0.61500	0.533000	0.62120	GAC	SASH1	-	NULL		0.567	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	A	NM_015278		148840845	+1	no_errors	ENST00000367467	ensembl	human	known	70_37	missense	SNP	0.995	G
SBNO1	55206	genome.wustl.edu	37	12	123829879	123829879	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:123829879T>G	ENST00000602398.1	-	4	603	c.476A>C	c.(475-477)aAa>aCa	p.K159T	SBNO1_ENST00000267176.4_Missense_Mutation_p.K158T|SBNO1_ENST00000420886.2_Missense_Mutation_p.K159T|SBNO1_ENST00000602750.1_Missense_Mutation_p.K158T			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	159					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACTATTATTTTTCAGTAGATC	0.418																																																	0													159.0	144.0	149.0					12																	123829879		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.476A>C	12.37:g.123829879T>G	ENSP00000473665:p.Lys159Thr		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.K159T	ENST00000602398.1	37	c.476	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400812	0.62177	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.35789	1.35;1.29	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	L	0.27053	0.805	0.58432	D	0.999991	D;D;D	0.61080	0.981;0.989;0.989	D;D;D	0.72982	0.932;0.969;0.979	T	0.20840	-1.0263	10	0.13470	T	0.59	-27.2908	14.621	0.68584	0.0:0.0:0.0:1.0	.	159;158;157	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	T	159;158;158	ENSP00000387361:K159T;ENSP00000267176:K158T	ENSP00000267176:K158T	K	-	2	0	SBNO1	122395832	1.000000	0.71417	0.992000	0.48379	0.886000	0.51366	7.542000	0.82095	2.193000	0.70182	0.533000	0.62120	AAA	SBNO1	-	NULL		0.418	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	T	NM_018183		123829879	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	G
SCAF4	57466	genome.wustl.edu	37	21	33064673	33064673	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:33064673C>A	ENST00000286835.7	-	13	1985	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*	SCAF4_ENST00000399804.1_Nonsense_Mutation_p.E535*|SCAF4_ENST00000434667.3_Nonsense_Mutation_p.E520*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	535	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTAATTGATTCAATTGGACCA	0.388																																																	0													80.0	76.0	77.0					21																	33064673		2203	4300	6503	SO:0001587	stop_gained	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1603G>T	21.37:g.33064673C>A	ENSP00000286835:p.Glu535*		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Nonsense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.E535*	ENST00000286835.7	37	c.1603	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	C	43	10.452909	0.99408	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-21.7975	19.7578	0.96301	0.0:1.0:0.0:0.0	.	.	.	.	X	520;535;535	.	ENSP00000286835:E535X	E	-	1	0	SCAF4	31986544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.763000	0.85283	2.746000	0.94184	0.591000	0.81541	GAA	SCAF4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.388	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	C	XM_047889		33064673	-1	no_errors	ENST00000286835	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SCAI	286205	genome.wustl.edu	37	9	127734084	127734084	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:127734084T>C	ENST00000336505.6	-	16	1497	c.1439A>G	c.(1438-1440)aAc>aGc	p.N480S	SCAI_ENST00000373549.4_Missense_Mutation_p.N503S	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	480					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TAGAGGATTGTTCAAAAAGAG	0.368																																																	0													100.0	88.0	92.0					9																	127734084		1839	4091	5930	SO:0001583	missense	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1439A>G	9.37:g.127734084T>C	ENSP00000336756:p.Asn480Ser		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	pfam_DUF3550,pirsf_UCP013022	p.N503S	ENST00000336505.6	37	c.1508	CCDS48017.1	9	.	.	.	.	.	.	.	.	.	.	T	11.48	1.652145	0.29336	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.41400	1.0;1.0	5.1	5.1	0.69264	.	0.150774	0.64402	D	0.000016	T	0.34861	0.0912	N	0.19112	0.55	0.43164	D	0.994956	B;B	0.32396	0.369;0.318	B;B	0.39503	0.301;0.199	T	0.28170	-1.0052	10	0.44086	T	0.13	-13.2789	14.3915	0.66983	0.0:0.0:0.0:1.0	.	480;503	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	S	480;503	ENSP00000336756:N480S;ENSP00000362650:N503S	ENSP00000336756:N480S	N	-	2	0	SCAI	126773905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.257000	0.78362	2.057000	0.61298	0.533000	0.62120	AAC	SCAI	-	pfam_DUF3550,pirsf_UCP013022		0.368	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAI	HGNC	protein_coding	OTTHUMT00000054055.3	T	NM_173690		127734084	-1	no_errors	ENST00000373549	ensembl	human	known	70_37	missense	SNP	1.000	C
SCFD2	152579	genome.wustl.edu	37	4	54231279	54231279	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:54231279T>C	ENST00000401642.3	-	1	963	c.830A>G	c.(829-831)gAt>gGt	p.D277G	SCFD2_ENST00000388940.4_Missense_Mutation_p.D277G	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	277					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCTGTGAGATCCAGGGTTCT	0.458																																																	0													110.0	109.0	109.0					4																	54231279		2203	4300	6503	SO:0001583	missense	152579			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.830A>G	4.37:g.54231279T>C	ENSP00000384182:p.Asp277Gly		Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.D277G	ENST00000401642.3	37	c.830	CCDS33984.1	4	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670237	0.47677	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	D;D	0.94897	-3.55;-3.55	5.03	5.03	0.67393	.	0.050489	0.85682	D	0.000000	D	0.95121	0.8419	M	0.79926	2.475	0.58432	D	0.999996	P;P	0.51351	0.944;0.908	P;B	0.48270	0.572;0.368	D	0.95475	0.8555	10	0.87932	D	0	.	12.7533	0.57320	0.0:0.0:0.0:1.0	.	277;277	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	G	277	ENSP00000384182:D277G;ENSP00000373592:D277G	ENSP00000373592:D277G	D	-	2	0	SCFD2	53926036	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	7.254000	0.78329	2.125000	0.65367	0.379000	0.24179	GAT	SCFD2	-	NULL		0.458	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD2	HGNC	protein_coding	OTTHUMT00000361311.3	T	NM_152540		54231279	-1	no_errors	ENST00000401642	ensembl	human	known	70_37	missense	SNP	1.000	C
SCARB2	950	genome.wustl.edu	37	4	77095431	77095431	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:77095431A>G	ENST00000264896.2	-	7	1209	c.860T>C	c.(859-861)gTa>gCa	p.V287A	SCARB2_ENST00000452464.2_Missense_Mutation_p.V144A	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	287					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CAGTCCCTGTACACTCTCATA	0.453																																																	0													112.0	102.0	105.0					4																	77095431		2203	4300	6503	SO:0001583	missense	950			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.860T>C	4.37:g.77095431A>G	ENSP00000264896:p.Val287Ala		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen	p.V287A	ENST00000264896.2	37	c.860	CCDS3577.1	4	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353923	0.82243	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.73897	-0.79;-0.79	5.62	5.62	0.85841	.	0.174318	0.50627	D	0.000114	T	0.80819	0.4696	M	0.73319	2.225	0.53688	D	0.999975	P;P	0.43024	0.466;0.798	P;P	0.49922	0.472;0.626	T	0.83052	-0.0152	10	0.72032	D	0.01	.	14.7999	0.69906	1.0:0.0:0.0:0.0	.	144;287	E7EM68;Q14108	.;SCRB2_HUMAN	A	287;144	ENSP00000264896:V287A;ENSP00000399154:V144A	ENSP00000264896:V287A	V	-	2	0	SCARB2	77314455	1.000000	0.71417	0.032000	0.17829	0.646000	0.38490	8.624000	0.90961	2.151000	0.67156	0.533000	0.62120	GTA	SCARB2	-	pfam_CD36		0.453	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARB2	HGNC	protein_coding	OTTHUMT00000252403.1	A	NM_005506		77095431	-1	no_errors	ENST00000264896	ensembl	human	known	70_37	missense	SNP	0.902	G
SCG2	7857	genome.wustl.edu	37	2	224462577	224462577	+	Missense_Mutation	SNP	G	G	A	rs141189708		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:224462577G>A	ENST00000305409.2	-	2	1656	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					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(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAGCTGGTTCGATCTAGATCT	0.443																																																	0								G	LEU/SER	0,4406		0,0,2203	141.0	134.0	136.0		1424	0.6	0.0	2	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCG2	NM_003469.4	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	475/618	224462577	1,13005	2203	4300	6503	SO:0001583	missense	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1424C>T	2.37:g.224462577G>A	ENSP00000304133:p.Ser475Leu		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	pfam_Granin	p.S475L	ENST00000305409.2	37	c.1424	CCDS2457.1	2	.	.	.	.	.	.	.	.	.	.	G	0.722	-0.783193	0.02907	0.0	1.16E-4	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01560	4.77	5.86	0.633	0.17712	.	0.430713	0.25756	N	0.028511	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47381	-0.9122	10	0.48119	T	0.1	.	6.3587	0.21417	0.3814:0.2949:0.3237:0.0	.	475	P13521	SCG2_HUMAN	L	475;335	ENSP00000304133:S475L	ENSP00000304133:S475L	S	-	2	0	SCG2	224170821	0.206000	0.23470	0.000000	0.03702	0.145000	0.21501	0.925000	0.28791	0.083000	0.17047	0.650000	0.86243	TCG	SCG2	-	pfam_Granin		0.443	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	G	NM_003469		224462577	-1	no_errors	ENST00000305409	ensembl	human	known	70_37	missense	SNP	0.010	A
SCMH1	22955	genome.wustl.edu	37	1	41503061	41503061	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:41503061A>C	ENST00000326197.7	-	12	1920	c.1621T>G	c.(1621-1623)Tca>Gca	p.S541A	SCMH1_ENST00000361705.3_Missense_Mutation_p.S494A|SCMH1_ENST00000397174.2_Missense_Mutation_p.S521A|SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000337495.5_Missense_Mutation_p.S551A|SCMH1_ENST00000372596.1_Missense_Mutation_p.S480A|SCMH1_ENST00000402904.2_Missense_Mutation_p.S541A|SCMH1_ENST00000372597.1_Missense_Mutation_p.S494A|SCMH1_ENST00000372595.1_Missense_Mutation_p.S480A|SCMH1_ENST00000456518.2_Missense_Mutation_p.S383A|SCMH1_ENST00000397171.2_Missense_Mutation_p.S480A|SCMH1_ENST00000361191.5_Missense_Mutation_p.S480A					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CGCACAGCTGAGGCAGTGCTT	0.582																																																	0													152.0	134.0	140.0					1																	41503061		2203	4300	6503	SO:0001583	missense	22955			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1621T>G	1.37:g.41503061A>C	ENSP00000318094:p.Ser541Ala			Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.S541A	ENST00000326197.7	37	c.1621	CCDS30688.1	1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.324077	0.24080	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.23754	2.23;1.89;2.18;2.22;2.23;2.23;2.23;2.23;2.22;2.18;2.18	4.18	4.18	0.49190	.	0.257238	0.26867	N	0.022089	T	0.14614	0.0353	N	0.24115	0.695	0.27408	N	0.954649	B;B;B;B	0.21520	0.038;0.057;0.033;0.0	B;B;B;B	0.22152	0.017;0.038;0.015;0.002	T	0.18871	-1.0323	10	0.06236	T	0.91	.	11.4727	0.50280	1.0:0.0:0.0:0.0	.	383;551;494;541	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	A	494;383;541;521;480;480;494;480;551;480;541	ENSP00000354996:S494A;ENSP00000403974:S383A;ENSP00000386079:S541A;ENSP00000380359:S521A;ENSP00000380356:S480A;ENSP00000354656:S480A;ENSP00000361678:S494A;ENSP00000361677:S480A;ENSP00000337352:S551A;ENSP00000361676:S480A;ENSP00000318094:S541A	ENSP00000318094:S541A	S	-	1	0	SCMH1	41275648	1.000000	0.71417	0.789000	0.31954	0.454000	0.32378	3.600000	0.54052	2.105000	0.64084	0.460000	0.39030	TCA	SCMH1	-	NULL		0.582	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SCMH1	HGNC	protein_coding	OTTHUMT00000015656.1	A			41503061	-1	no_errors	ENST00000326197	ensembl	human	known	70_37	missense	SNP	0.939	C
SCML4	256380	genome.wustl.edu	37	6	108070974	108070974	+	Missense_Mutation	SNP	G	G	A	rs112676572		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:108070974G>A	ENST00000369020.3	-	3	445	c.200C>T	c.(199-201)cCg>cTg	p.P67L	SCML4_ENST00000369022.2_Missense_Mutation_p.P9L|SCML4_ENST00000369021.3_Missense_Mutation_p.P38L	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGTACTCCGCGGAGGTGAGAG	0.582																																																	0													75.0	78.0	77.0					6																	108070974		2203	4300	6503	SO:0001583	missense	256380				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.200C>T	6.37:g.108070974G>A	ENSP00000358016:p.Pro67Leu		B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	pfam_DUF3588	p.P38L	ENST00000369020.3	37	c.113	CCDS5060.2	6	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965418	0.53507	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.56444	0.65;0.85;0.46;0.61	5.31	4.39	0.52855	.	0.847854	0.10570	N	0.659260	T	0.59266	0.2181	M	0.64997	1.995	0.80722	D	1	B;P;D	0.89917	0.195;0.953;1.0	B;B;D	0.97110	0.019;0.259;1.0	T	0.53387	-0.8446	10	0.30854	T	0.27	.	12.9546	0.58418	0.083:0.0:0.917:0.0	.	67;67;38	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	L	9;67;38;38	ENSP00000358018:P9L;ENSP00000358016:P67L;ENSP00000358017:P38L;ENSP00000404688:P38L	ENSP00000358016:P67L	P	-	2	0	SCML4	108177667	1.000000	0.71417	0.702000	0.30337	0.021000	0.10359	7.559000	0.82265	1.117000	0.41842	-0.345000	0.07892	CCG	SCML4	-	NULL		0.582	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SCML4	HGNC	protein_coding	OTTHUMT00000041700.3	G	XM_171128		108070974	-1	no_errors	ENST00000369021	ensembl	human	known	70_37	missense	SNP	0.998	A
SCN11A	11280	genome.wustl.edu	37	3	38888327	38888327	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:38888327C>T	ENST00000302328.3	-	26	5432	c.5234G>A	c.(5233-5235)cGa>cAa	p.R1745Q	SCN11A_ENST00000450244.1_Missense_Mutation_p.R1745Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R1707Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1745					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGTACTTTCGAAAGGCCTT	0.458																																																	0													254.0	238.0	244.0					3																	38888327		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5234G>A	3.37:g.38888327C>T	ENSP00000307599:p.Arg1745Gln		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R1745Q	ENST00000302328.3	37	c.5234	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.349612	0.95830	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97752	-4.52;-4.52;-4.5	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.99074	0.9682	M	0.92317	3.295	0.52501	D	0.999957	D	0.89917	1.0	D	0.87578	0.998	D	0.99497	1.0952	10	0.87932	D	0	.	19.2029	0.93719	0.0:1.0:0.0:0.0	.	1745	Q9UI33	SCNBA_HUMAN	Q	1745;1745;1707	ENSP00000307599:R1745Q;ENSP00000400945:R1745Q;ENSP00000416757:R1707Q	ENSP00000307599:R1745Q	R	-	2	0	SCN11A	38863331	1.000000	0.71417	0.982000	0.44146	0.919000	0.55068	7.748000	0.85085	2.515000	0.84797	0.650000	0.86243	CGA	SCN11A	-	NULL		0.458	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	C	NM_014139		38888327	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	missense	SNP	1.000	T
SCN11A	11280	genome.wustl.edu	37	3	38936403	38936403	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:38936403C>A	ENST00000302328.3	-	15	2654	c.2456G>T	c.(2455-2457)aGa>aTa	p.R819I	SCN11A_ENST00000444237.2_Missense_Mutation_p.R819I|SCN11A_ENST00000450244.1_Missense_Mutation_p.R819I|SCN11A_ENST00000456224.3_Missense_Mutation_p.R819I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	819					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTTCCATTTCTTTCCTCATT	0.448																																																	0													82.0	75.0	77.0					3																	38936403		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2456G>T	3.37:g.38936403C>A	ENSP00000307599:p.Arg819Ile		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R819I	ENST00000302328.3	37	c.2456	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327258	0.60743	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96200	-3.94;-3.94;-3.89;-3.81	4.86	2.04	0.26737	.	1.268710	0.05535	N	0.564634	D	0.90417	0.7000	L	0.29908	0.895	0.24027	N	0.996121	P	0.45283	0.855	B	0.38327	0.271	D	0.84072	0.0380	10	0.52906	T	0.07	.	4.3159	0.10993	0.0:0.4604:0.234:0.3056	.	819	Q9UI33	SCNBA_HUMAN	I	819	ENSP00000307599:R819I;ENSP00000400945:R819I;ENSP00000416757:R819I;ENSP00000408028:R819I	ENSP00000307599:R819I	R	-	2	0	SCN11A	38911407	0.000000	0.05858	0.699000	0.30290	0.892000	0.51952	-0.004000	0.12878	0.733000	0.32492	0.655000	0.94253	AGA	SCN11A	-	NULL		0.448	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	C	NM_014139		38936403	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	missense	SNP	0.364	A
SCN1B	6324	genome.wustl.edu	37	19	35523455	35523455	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:35523455G>A	ENST00000262631.5	+	2	201	c.64G>A	c.(64-66)Gtg>Atg	p.V22M	SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.V22M|SCN1B_ENST00000415950.3_Missense_Mutation_p.V22M	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	22	Ig-like C2-type.				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)	CGGGGGCTGCGTGGAGGTGGA	0.602																																																	0													94.0	94.0	94.0					19																	35523455		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.64G>A	19.37:g.35523455G>A	ENSP00000262631:p.Val22Met		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set	p.V22M	ENST00000262631.5	37	c.64	CCDS12441.1	19	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589124	0.66105	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	D;D	0.99143	-5.48;-3.06	3.72	3.72	0.42706	.	0.156003	0.42420	D	0.000707	D	0.98732	0.9574	L	0.55990	1.75	0.40734	D	0.982771	D;D;D	0.89917	0.996;0.999;1.0	D;P;D	0.77004	0.927;0.886;0.989	D	0.99191	1.0870	10	0.87932	D	0	-29.2775	10.8635	0.46839	0.0:0.0:1.0:0.0	.	22;22;22	B4DI92;Q07699;Q07699-2	.;SCN1B_HUMAN;.	M	22	ENSP00000262631:V22M;ENSP00000396915:V22M	ENSP00000262631:V22M	V	+	1	0	SCN1B	40215295	1.000000	0.71417	0.981000	0.43875	0.546000	0.35178	8.551000	0.90678	1.910000	0.55303	0.563000	0.77884	GTG	SCN1B	-	NULL		0.602	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN1B	HGNC	protein_coding	OTTHUMT00000461567.1	G			35523455	+1	no_errors	ENST00000262631	ensembl	human	known	70_37	missense	SNP	0.999	A
SCN2A	6326	genome.wustl.edu	37	2	166179831	166179831	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:166179831G>A	ENST00000375437.2	+	12	2127	c.1837G>A	c.(1837-1839)Gtg>Atg	p.V613M	SCN2A_ENST00000283256.6_Missense_Mutation_p.V613M|SCN2A_ENST00000375427.2_Missense_Mutation_p.V613M|SCN2A_ENST00000357398.3_Missense_Mutation_p.V613M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	613					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCTCTGTTCGTGCCGCACAG	0.557																																																	0													67.0	58.0	61.0					2																	166179831		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1837G>A	2.37:g.166179831G>A	ENSP00000364586:p.Val613Met		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V613M	ENST00000375437.2	37	c.1837	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529648	0.85706	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	5.64	5.64	0.86602	Domain of unknown function DUF3451 (1);	0.207217	0.33938	N	0.004401	D	0.96993	0.9018	M	0.90019	3.08	0.45118	D	0.998138	P;D	0.89917	0.76;1.0	B;D	0.97110	0.356;1.0	D	0.97279	0.9916	10	0.72032	D	0.01	.	19.705	0.96069	0.0:0.0:1.0:0.0	.	613;613	Q99250-2;Q99250	.;SCN2A_HUMAN	M	613	ENSP00000364586:V613M;ENSP00000349973:V613M;ENSP00000283256:V613M;ENSP00000364576:V613M	ENSP00000283256:V613M	V	+	1	0	SCN2A	165888077	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.414000	0.59802	2.666000	0.90696	0.637000	0.83480	GTG	SCN2A	-	pfam_DUF3451		0.557	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	G	NM_021007		166179831	+1	no_errors	ENST00000283256	ensembl	human	known	70_37	missense	SNP	1.000	A
SCN2A	6326	genome.wustl.edu	37	2	166198953	166198953	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:166198953T>G	ENST00000375437.2	+	15	2826	c.2536T>G	c.(2536-2538)Ttg>Gtg	p.L846V	SCN2A_ENST00000283256.6_Missense_Mutation_p.L846V|SCN2A_ENST00000375427.2_Missense_Mutation_p.L846V|SCN2A_ENST00000357398.3_Missense_Mutation_p.L846V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	846					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTGGAAGGATTGTCAGTTCT	0.348																																																	0													162.0	166.0	164.0					2																	166198953		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2536T>G	2.37:g.166198953T>G	ENSP00000364586:p.Leu846Val		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L846V	ENST00000375437.2	37	c.2536	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	T	17.32	3.358672	0.61403	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05	5.36	-4.95	0.03048	Ion transport (1);	0.000000	0.50627	D	0.000103	D	0.98526	0.9508	M	0.71871	2.18	0.34940	D	0.750242	D;D	0.71674	0.985;0.998	P;D	0.87578	0.856;0.998	D	0.98766	1.0726	10	0.87932	D	0	.	14.4734	0.67531	0.0:0.5065:0.0:0.4935	.	846;846	Q99250-2;Q99250	.;SCN2A_HUMAN	V	846	ENSP00000364586:L846V;ENSP00000349973:L846V;ENSP00000283256:L846V;ENSP00000364576:L846V	ENSP00000283256:L846V	L	+	1	2	SCN2A	165907199	0.723000	0.28027	0.930000	0.37139	0.971000	0.66376	-0.139000	0.10358	-0.866000	0.04068	-0.361000	0.07541	TTG	SCN2A	-	pfam_Ion_trans_dom		0.348	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	T	NM_021007		166198953	+1	no_errors	ENST00000283256	ensembl	human	known	70_37	missense	SNP	0.452	G
SCN2A	6326	genome.wustl.edu	37	2	166237192	166237192	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:166237192C>A	ENST00000375437.2	+	24	4689	c.4399C>A	c.(4399-4401)Ctt>Att	p.L1467I	SCN2A_ENST00000283256.6_Missense_Mutation_p.L1467I|SCN2A_ENST00000375427.2_Missense_Mutation_p.L1467I|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1467I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1467					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACCTTGAATCTTTTCATTGG	0.279																																																	0													106.0	97.0	100.0					2																	166237192		2198	4288	6486	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4399C>A	2.37:g.166237192C>A	ENSP00000364586:p.Leu1467Ile		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L1467I	ENST00000375437.2	37	c.4399	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171472	0.78452	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62	4.91	4.02	0.46733	Ion transport (1);	0.000000	0.64402	D	0.000015	D	0.99351	0.9772	M	0.89287	3.02	0.49389	D	0.999789	D;D	0.71674	0.997;0.998	D;D	0.87578	0.965;0.998	D	0.98691	1.0696	10	0.72032	D	0.01	.	10.1166	0.42593	0.0:0.8459:0.0:0.1541	.	1467;1467	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1467	ENSP00000364586:L1467I;ENSP00000349973:L1467I;ENSP00000283256:L1467I;ENSP00000364576:L1467I	ENSP00000283256:L1467I	L	+	1	0	SCN2A	165945438	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.284000	0.51708	2.279000	0.76181	0.655000	0.94253	CTT	SCN2A	-	pfam_Ion_trans_dom		0.279	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	C	NM_021007		166237192	+1	no_errors	ENST00000283256	ensembl	human	known	70_37	missense	SNP	1.000	A
SCN2A	6326	genome.wustl.edu	37	2	166246238	166246238	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:166246238G>T	ENST00000375437.2	+	27	6212	c.5922G>T	c.(5920-5922)tcG>tcT	p.S1974S	SCN2A_ENST00000283256.6_Silent_p.S1974S|SCN2A_ENST00000375427.2_Silent_p.S1974S|SCN2A_ENST00000357398.3_Silent_p.S1974S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1974					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCCACCCTCGTATGATAGTG	0.373																																																	0													47.0	48.0	48.0					2																	166246238		2203	4300	6503	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5922G>T	2.37:g.166246238G>T			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.S1974	ENST00000375437.2	37	c.5922	CCDS33314.1	2																																																																																			SCN2A	-	NULL		0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	G	NM_021007		166246238	+1	no_errors	ENST00000283256	ensembl	human	known	70_37	silent	SNP	0.000	T
SCN4A	6329	genome.wustl.edu	37	17	62029154	62029154	+	Missense_Mutation	SNP	C	C	T	rs556099012		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:62029154C>T	ENST00000435607.1	-	14	2559	c.2483G>A	c.(2482-2484)cGc>cAc	p.R828H	SCN4A_ENST00000578147.1_Missense_Mutation_p.R828H	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	828					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAACTTGATGCGCCCGATGGC	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18466	0.0		0.0	False		,,,				2504	0.0																0													15.0	16.0	16.0					17																	62029154		2035	4175	6210	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2483G>A	17.37:g.62029154C>T	ENSP00000396320:p.Arg828His		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.R828H	ENST00000435607.1	37	c.2483	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965229	0.92855	.	.	ENSG00000007314	ENST00000435607	D	0.98105	-4.72	4.54	4.54	0.55810	Sodium ion transport-associated (1);	0.052065	0.64402	D	0.000001	D	0.98865	0.9616	M	0.92507	3.315	0.58432	D	0.999998	D	0.65815	0.995	D	0.64877	0.93	D	0.99560	1.0968	10	0.87932	D	0	.	16.0346	0.80617	0.0:1.0:0.0:0.0	.	828	P35499	SCN4A_HUMAN	H	828	ENSP00000396320:R828H	ENSP00000396320:R828H	R	-	2	0	SCN4A	59382886	0.999000	0.42202	0.999000	0.59377	0.964000	0.63967	7.609000	0.82925	2.379000	0.81126	0.455000	0.32223	CGC	SCN4A	-	pfam_Na_trans_assoc		0.607	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		C	NM_000334		62029154	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	missense	SNP	1.000	T
SCN8A	6334	genome.wustl.edu	37	12	52200522	52200522	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:52200522T>G	ENST00000354534.6	+	27	5430	c.5252T>G	c.(5251-5253)aTc>aGc	p.I1751S	RP11-923I11.3_ENST00000565518.1_lincRNA|SCN8A_ENST00000545061.1_Missense_Mutation_p.I1710S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1751					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AGCTACATCATCATCTCTTTC	0.493																																																	0													109.0	117.0	115.0					12																	52200522		2192	4300	6492	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5252T>G	12.37:g.52200522T>G	ENSP00000346534:p.Ile1751Ser		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.I1751S	ENST00000354534.6	37	c.5252	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287034	0.59867	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.98822	-5.16;-5.16	5.32	5.32	0.75619	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	H	0.94808	3.585	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.98763	1.0725	10	0.87932	D	0	.	15.7617	0.78087	0.0:0.0:0.0:1.0	.	1751	Q9UQD0	SCN8A_HUMAN	S	1751;1710	ENSP00000346534:I1751S;ENSP00000440360:I1710S	ENSP00000346534:I1751S	I	+	2	0	SCN8A	50486789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.371000	0.80710	0.533000	0.62120	ATC	SCN8A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2		0.493	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	T	NM_014191		52200522	+1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	G
SCRIB	23513	genome.wustl.edu	37	8	144896062	144896062	+	Silent	SNP	G	G	A	rs371973612		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:144896062G>A	ENST00000320476.3	-	3	288	c.282C>T	c.(280-282)atC>atT	p.I94I	SCRIB_ENST00000377533.3_Silent_p.I13I|SCRIB_ENST00000356994.2_Silent_p.I94I|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	94	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGATCTCAGGGATATCTGTCA	0.652																																					Pancreas(51;966 1133 10533 14576 29674)												0								G	,	0,4406		0,0,2203	42.0	42.0	42.0		282,282	0.4	1.0	8		42	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SCRIB	NM_015356.3,NM_182706.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	94/1631,94/1656	144896062	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.282C>T	8.37:g.144896062G>A			Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.I94	ENST00000320476.3	37	c.282	CCDS6411.1	8																																																																																			SCRIB	-	smart_Leu-rich_rpt_typical-subtyp		0.652	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	G	NM_015356		144896062	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	silent	SNP	1.000	A
SCTR	6344	genome.wustl.edu	37	2	120209612	120209612	+	Missense_Mutation	SNP	G	G	A	rs144810736	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:120209612G>A	ENST00000019103.5	-	9	1162	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	299					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	ACAGGACCACGAATGATCCAC	0.592													G|||	2	0.000399361	0.0	0.0029	5008	,	,		21577	0.0		0.0	False		,,,				2504	0.0																0								G	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	146.0	104.0	118.0		895	5.3	1.0	2	dbSNP_134	118	33,8567	21.6+/-65.8	0,33,4267	yes	missense	SCTR	NM_002980.2	180	0,37,6466	AA,AG,GG		0.3837,0.0908,0.2845	probably-damaging	299/441	120209612	37,12969	2203	4300	6503	SO:0001583	missense	6344				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.895C>T	2.37:g.120209612G>A	ENSP00000019103:p.Arg299Cys		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1	p.R299C	ENST00000019103.5	37	c.895	CCDS2127.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168832	0.78339	9.08E-4	0.003837	ENSG00000080293	ENST00000019103	T	0.36520	1.25	5.33	5.33	0.75918	GPCR, family 2-like (1);	0.000000	0.47852	D	0.000206	T	0.64472	0.2601	M	0.86502	2.82	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.69661	-0.5085	10	0.87932	D	0	.	13.6707	0.62422	0.0:0.0:0.8356:0.1644	.	299	P47872	SCTR_HUMAN	C	299	ENSP00000019103:R299C	ENSP00000019103:R299C	R	-	1	0	SCTR	119926082	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.818000	0.55678	2.775000	0.95449	0.655000	0.94253	CGT	SCTR	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.592	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCTR	HGNC	protein_coding	OTTHUMT00000254198.2	G			120209612	-1	no_errors	ENST00000019103	ensembl	human	known	70_37	missense	SNP	1.000	A
SCUBE1	80274	genome.wustl.edu	37	22	43604187	43604187	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:43604187G>A	ENST00000360835.4	-	20	2751	c.2625C>T	c.(2623-2625)taC>taT	p.Y875Y		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	875	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGGGCCTCTCGTAGGTCTGGC	0.587																																																	0													256.0	200.0	219.0					22																	43604187		2203	4300	6503	SO:0001819	synonymous_variant	80274				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2625C>T	22.37:g.43604187G>A			Q5R336	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.Y875	ENST00000360835.4	37	c.2625	CCDS14048.1	22																																																																																			SCUBE1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.587	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	G	NM_173050		43604187	-1	no_errors	ENST00000360835	ensembl	human	known	70_37	silent	SNP	0.989	A
SCUBE2	57758	genome.wustl.edu	37	11	9080863	9080863	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:9080863C>A	ENST00000309263.3	-	9	1149	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.E359D|SCUBE2_ENST00000457346.2_Missense_Mutation_p.E359D|SCUBE2_ENST00000450649.2_Missense_Mutation_p.E359D|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	359	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GGCAAGACTTCTCATCTGTTA	0.488																																																	0													86.0	78.0	81.0					11																	9080863		2201	4296	6497	SO:0001583	missense	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1077G>T	11.37:g.9080863C>A	ENSP00000310658:p.Glu359Asp		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.E359D	ENST00000309263.3	37	c.1077		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.478754|3.478754	0.63849|0.63849	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467|ENST00000519788;ENST00000531429	D;D;D;D|.	0.96459|.	-4.02;-4.02;-4.02;-4.02|.	5.85|5.85	3.67|3.67	0.42095|0.42095	EGF-like region, conserved site (1);EGF-like calcium-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52581|0.52581	0.1743|0.1743	L|L	0.35593|0.35593	1.075|1.075	0.53005|0.53005	D|D	0.999963|0.999963	D;D;D|.	0.76494|.	0.997;0.999;0.998|.	D;D;D|.	0.73380|.	0.968;0.98;0.978|.	T|T	0.47861|0.47861	-0.9084|-0.9084	10|5	0.44086|.	T|.	0.13|.	.|.	11.5913|11.5913	0.50947|0.50947	0.0:0.7601:0.0:0.2399|0.0:0.7601:0.0:0.2399	.|.	359;359;359|.	Q9NQ36-3;Q9NQ36-2;Q9NQ36|.	.;.;SCUB2_HUMAN|.	D|I	359|83;124	ENSP00000390481:E359D;ENSP00000310658:E359D;ENSP00000415187:E359D;ENSP00000429969:E359D|.	ENSP00000310658:E359D|.	E|R	-|-	3|2	2|0	SCUBE2|SCUBE2	9037439|9037439	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.683000|0.683000	0.25349|0.25349	1.482000|1.482000	0.48325|0.48325	0.585000|0.585000	0.79938|0.79938	GAG|AGA	SCUBE2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.488	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	C	NM_020974		9080863	-1	no_errors	ENST00000457346	ensembl	human	known	70_37	missense	SNP	1.000	A
SDCCAG3	10807	genome.wustl.edu	37	9	139299684	139299684	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:139299684T>G	ENST00000357365.3	-	7	1023				SDCCAG3_ENST00000371725.3_Intron|SDCCAG3_ENST00000298537.7_Intron|SDCCAG3_ENST00000461693.1_5'UTR	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3							cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		AGTTGTTAATTTCTGTGGCTA	0.463																																																	0													54.0	51.0	52.0					9																	139299684		1840	4090	5930	SO:0001627	intron_variant	10807			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.894-30A>C	9.37:g.139299684T>G			A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	RNA	SNP	-	NULL	ENST00000357365.3	37	NULL	CCDS43904.1	9																																																																																			SDCCAG3	-	-		0.463	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	T	NM_006643		139299684	-1	no_errors	ENST00000461693	ensembl	human	known	70_37	rna	SNP	0.000	G
SDR16C5	195814	genome.wustl.edu	37	8	57218217	57218217	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:57218217G>T	ENST00000303749.3	-	6	1412	c.775C>A	c.(775-777)Cta>Ata	p.L259I	SDR16C5_ENST00000522671.1_Missense_Mutation_p.L259I|SDR16C5_ENST00000396721.2_Missense_Mutation_p.L215I	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	259					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTTTCTTGTAGAATAGCTTCT	0.318																																																	0													85.0	87.0	86.0					8																	57218217		2203	4296	6499	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.775C>A	8.37:g.57218217G>T	ENSP00000307607:p.Leu259Ile		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L259I	ENST00000303749.3	37	c.775	CCDS6167.1	8	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952673	0.53293	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671	D;D;T	0.89810	-2.57;-2.57;0.66	5.63	3.85	0.44370	NAD(P)-binding domain (1);	0.222839	0.38897	N	0.001529	D	0.93969	0.8069	M	0.87328	2.875	0.53688	D	0.999978	P;D;D	0.63880	0.523;0.993;0.992	B;D;D	0.65573	0.281;0.936;0.911	D	0.93293	0.6670	10	0.51188	T	0.08	.	11.6923	0.51523	0.1436:0.0:0.8564:0.0	.	215;259;259	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	I	215;259;259	ENSP00000379947:L215I;ENSP00000307607:L259I;ENSP00000431010:L259I	ENSP00000307607:L259I	L	-	1	2	SDR16C5	57380771	1.000000	0.71417	0.942000	0.38095	0.125000	0.20455	5.115000	0.64655	0.753000	0.32945	0.655000	0.94253	CTA	SDR16C5	-	NULL		0.318	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR16C5	HGNC	protein_coding	OTTHUMT00000378235.1	G	NM_138969		57218217	-1	no_errors	ENST00000303749	ensembl	human	known	70_37	missense	SNP	0.992	T
SEC31A	22872	genome.wustl.edu	37	4	83787987	83787987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:83787987G>A	ENST00000395310.2	-	10	1353	c.1171C>T	c.(1171-1173)Cga>Tga	p.R391*	SEC31A_ENST00000355196.2_Nonsense_Mutation_p.R391*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.R391*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.R391*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.R391*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.R163*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.R386*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.R391*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.R391*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.R391*	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	391	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACAGGCCTTCGAATCCACTTG	0.458																																																	0													126.0	133.0	131.0					4																	83787987		2203	4300	6503	SO:0001587	stop_gained	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1171C>T	4.37:g.83787987G>A	ENSP00000378721:p.Arg391*		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R391*	ENST00000395310.2	37	c.1171	CCDS3596.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.165483|8.165483	0.98686|0.98686	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479|ENST00000507828	.|.	.|.	.|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.121111|.	0.56097|.	D|.	0.000022|.	.|T	.|0.74756	.|0.3758	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73902	.|-0.3836	.|3	0.02654|.	T|.	1|.	-13.2111|-13.2111	18.7833|18.7833	0.91944|0.91944	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	391;391;391;386;391;391;391;391;391;391;391;391;391;163;391;391|33	.|.	ENSP00000264405:R163X|.	R|S	-|-	1|2	2|0	SEC31A|SEC31A	84007011|84007011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	5.691000|5.691000	0.68249|0.68249	2.499000|2.499000	0.84300|0.84300	0.573000|0.573000	0.79308|0.79308	CGA|TCG	SEC31A	-	NULL		0.458	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	G	NM_016211		83787987	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SEC24B	10427	genome.wustl.edu	37	4	110415812	110415812	+	Missense_Mutation	SNP	G	G	A	rs374227762		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:110415812G>A	ENST00000265175.5	+	6	1343	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	SEC24B_ENST00000504968.2_Missense_Mutation_p.A461T|SEC24B_ENST00000399100.2_Missense_Mutation_p.A395T	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	430					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TCCTGATCCCGCCCCTGAACC	0.483																																																	0								G	THR/ALA,THR/ALA	0,4298		0,0,2149	99.0	108.0	105.0		1183,1288	1.7	0.0	4		105	3,8583		0,3,4290	no	missense,missense	SEC24B	NM_001042734.1,NM_006323.2	58,58	0,3,6439	AA,AG,GG		0.0349,0.0,0.0233	benign,benign	395/1234,430/1269	110415812	3,12881	2149	4293	6442	SO:0001583	missense	10427			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1288G>A	4.37:g.110415812G>A	ENSP00000265175:p.Ala430Thr		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.A430T	ENST00000265175.5	37	c.1288	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	G	1.460	-0.562615	0.03939	0.0	3.49E-4	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.78707	-1.04;-1.2;-1.2	5.8	1.73	0.24493	.	1.112980	0.07013	N	0.825531	T	0.59959	0.2232	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.12013	0.003;0.003;0.003;0.005;0.003	B;B;B;B;B	0.11329	0.003;0.003;0.003;0.006;0.003	T	0.41466	-0.9507	10	0.08837	T	0.75	-0.0273	1.6906	0.02851	0.1771:0.1357:0.4877:0.1994	.	345;29;461;395;430	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	T	461;395;430	ENSP00000428564:A461T;ENSP00000382051:A395T;ENSP00000265175:A430T	ENSP00000265175:A430T	A	+	1	0	SEC24B	110635261	0.001000	0.12720	0.002000	0.10522	0.086000	0.17979	0.483000	0.22292	0.369000	0.24510	-0.897000	0.02905	GCC	SEC24B	-	NULL		0.483	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	G			110415812	+1	no_errors	ENST00000265175	ensembl	human	known	70_37	missense	SNP	0.002	A
SEC63	11231	genome.wustl.edu	37	6	108202401	108202401	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:108202401T>G	ENST00000369002.4	-	18	2066	c.1887A>C	c.(1885-1887)gaA>gaC	p.E629D		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	629					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)		TTGATTTGGTTTCCAATAGAG	0.333																																																	0													229.0	223.0	225.0					6																	108202401		2202	4300	6502	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.1887A>C	6.37:g.108202401T>G	ENSP00000357998:p.Glu629Asp		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.E629D	ENST00000369002.4	37	c.1887	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106582	0.77096	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.64085	-0.08	5.42	4.26	0.50523	Sec63 domain (2);	0.000000	0.85682	D	0.000000	T	0.63522	0.2518	L	0.55990	1.75	0.58432	D	0.999994	D;D	0.69078	0.997;0.984	D;D	0.68192	0.934;0.956	T	0.67925	-0.5544	10	0.66056	D	0.02	-21.7613	10.4472	0.44501	0.0:0.0778:0.0:0.9222	.	629;629	Q9UGP8;B3KQF0	SEC63_HUMAN;.	D	629;247	ENSP00000357998:E629D	ENSP00000357998:E629D	E	-	3	2	SEC63	108309094	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.469000	0.35343	0.918000	0.36919	0.477000	0.44152	GAA	SEC63	-	pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom		0.333	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	T	NM_007214		108202401	-1	no_errors	ENST00000369002	ensembl	human	known	70_37	missense	SNP	1.000	G
SELV	348303	genome.wustl.edu	37	19	40006584	40006584	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:40006584G>T	ENST00000335426.4	+	1	832	c.732G>T	c.(730-732)caG>caT	p.Q244H	SELV_ENST00000423711.1_Missense_Mutation_p.Q244H	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		244					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTCCTTACAGAATTGTACGG	0.617																																																	0													18.0	19.0	19.0					19																	40006584		1924	4128	6052	SO:0001583	missense	348303																														ENST00000335426.4:c.732G>T	19.37:g.40006584G>T	ENSP00000333956:p.Gln244His		Q17RG5	Missense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.Q244H	ENST00000335426.4	37	c.732	CCDS54266.1	19	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955973	0.34471	.	.	ENSG00000186838	ENST00000335426;ENST00000423711	T;T	0.46451	0.87;0.87	1.96	-3.33	0.04958	.	.	.	.	.	T	0.22282	0.0537	N	0.08118	0	0.09310	N	1	D	0.53462	0.96	P	0.46659	0.523	T	0.15752	-1.0426	9	0.66056	D	0.02	.	4.2178	0.10544	0.0:0.1932:0.2724:0.5344	.	244	P59797	SELV_HUMAN	H	244	ENSP00000333956:Q244H;ENSP00000412508:Q244H	ENSP00000333956:Q244H	Q	+	3	2	AC011500.1	44698424	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.665000	0.05286	-0.630000	0.05567	0.298000	0.19748	CAG	SELV	-	NULL		0.617	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELV	Uniprot_genename	protein_coding	OTTHUMT00000389802.1	G			40006584	+1	no_errors	ENST00000423711	ensembl	human	known	70_37	missense	SNP	0.000	T
SEMA3D	223117	genome.wustl.edu	37	7	84680064	84680064	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:84680064C>A	ENST00000284136.6	-	7	905				SEMA3D_ENST00000444867.1_Missense_Mutation_p.E288D	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGCACAAATTCTCCTAAAGAT	0.299																																					Ovarian(63;442 1191 17318 29975 31528)												0																																										SO:0001627	intron_variant	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.861+4968G>T	7.37:g.84680064C>A			A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.E288D	ENST00000284136.6	37	c.864	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	C	9.772	1.172955	0.21704	.	.	ENSG00000153993	ENST00000444867	T	0.20598	2.06	4.2	0.0805	0.14421	.	.	.	.	.	T	0.12689	0.0308	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29488	-1.0010	8	0.59425	D	0.04	.	2.6854	0.05106	0.3823:0.1323:0.0:0.4854	.	288	C9JYT6	.	D	288	ENSP00000401366:E288D	ENSP00000401366:E288D	E	-	3	2	SEMA3D	84518000	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.075000	0.11431	0.010000	0.14839	-0.345000	0.07892	GAG	SEMA3D	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.299	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	C	NM_152754		84680064	-1	no_errors	ENST00000444867	ensembl	human	putative	70_37	missense	SNP	0.001	A
SEMA3G	56920	genome.wustl.edu	37	3	52475372	52475372	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:52475372C>A	ENST00000231721.2	-	7	720	c.721G>T	c.(721-723)Gac>Tac	p.D241Y		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	241	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TACACCTTGTCATTGTCCTGG	0.632																																																	0													85.0	61.0	69.0					3																	52475372		2203	4300	6503	SO:0001583	missense	56920				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.721G>T	3.37:g.52475372C>A	ENSP00000231721:p.Asp241Tyr		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.D241Y	ENST00000231721.2	37	c.721	CCDS2856.1	3	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845894	0.91277	.	.	ENSG00000010319	ENST00000231721	T	0.28454	1.61	4.56	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74426	-0.3669	10	0.87932	D	0	.	16.4876	0.84189	0.0:1.0:0.0:0.0	.	241	Q9NS98	SEM3G_HUMAN	Y	241	ENSP00000231721:D241Y	ENSP00000231721:D241Y	D	-	1	0	SEMA3G	52450412	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.734000	0.62043	2.390000	0.81377	0.561000	0.74099	GAC	SEMA3G	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.632	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1	C	NM_020163		52475372	-1	no_errors	ENST00000231721	ensembl	human	known	70_37	missense	SNP	1.000	A
SEMA6D	80031	genome.wustl.edu	37	15	48058792	48058792	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:48058792C>A	ENST00000316364.5	+	16	2085				SEMA6D_ENST00000389432.2_Missense_Mutation_p.F555L|SEMA6D_ENST00000389433.2_Intron|SEMA6D_ENST00000358066.4_Missense_Mutation_p.F555L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.F555L|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000536845.2_Intron|SEMA6D_ENST00000558014.1_Missense_Mutation_p.F555L|SEMA6D_ENST00000389428.3_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCGAAGACTTCTTTGCTTTCC	0.433																																																	0													166.0	138.0	147.0					15																	48058792		2198	4297	6495	SO:0001627	intron_variant	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1647-21C>A	15.37:g.48058792C>A			A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.F555L	ENST00000316364.5	37	c.1665	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	C	4.284	0.051821	0.08291	.	.	ENSG00000137872	ENST00000537942;ENST00000389432;ENST00000358066	T;T;T	0.15139	2.46;2.45;2.46	5.87	2.89	0.33648	.	.	.	.	.	T	0.08403	0.0209	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	9	0.11485	T	0.65	.	13.2026	0.59776	0.0:0.3524:0.5803:0.0673	.	555	Q8NFY4-2	.	L	555	ENSP00000442040:F555L;ENSP00000374083:F555L;ENSP00000350770:F555L	ENSP00000350770:F555L	F	+	3	2	SEMA6D	45846084	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.679000	0.25291	0.358000	0.24211	-0.122000	0.15005	TTC	SEMA6D	-	superfamily_Plexin-like_fold,smart_Plexin-like		0.433	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	C	NM_024966		48058792	+1	no_errors	ENST00000389432	ensembl	human	known	70_37	missense	SNP	1.000	A
SEPT14	346288	genome.wustl.edu	37	7	55863714	55863714	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:55863714T>G	ENST00000388975.3	-	10	1307	c.1191A>C	c.(1189-1191)aaA>aaC	p.K397N		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	397					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCCAGTTGTTTTTTCTCTT	0.423																																																	0													30.0	40.0	36.0					7																	55863714		1312	2273	3585	SO:0001583	missense	346288			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.1191A>C	7.37:g.55863714T>G	ENSP00000373627:p.Lys397Asn		A6NCC2|B4DXD6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.K397N	ENST00000388975.3	37	c.1191	CCDS5519.2	7	.	.	.	.	.	.	.	.	.	.	.	11.64	1.699347	0.30142	.	.	ENSG00000154997	ENST00000388975	D	0.84516	-1.86	1.32	1.32	0.21799	.	0.214708	0.31061	N	0.008338	T	0.81955	0.4932	L	0.59436	1.845	0.09310	N	1	P	0.38788	0.647	B	0.43536	0.423	T	0.74077	-0.3781	10	0.66056	D	0.02	.	6.7786	0.23634	0.0:0.0:0.0:1.0	.	397	Q6ZU15	SEP14_HUMAN	N	397	ENSP00000373627:K397N	ENSP00000373627:K397N	K	-	3	2	SEPT14	55831208	0.032000	0.19561	0.173000	0.22940	0.042000	0.13812	0.394000	0.20834	0.868000	0.35678	0.248000	0.18094	AAA	SEPT14	-	pirsf_Septin		0.423	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2	T	NM_207366		55863714	-1	no_errors	ENST00000388975	ensembl	human	known	70_37	missense	SNP	0.067	G
SEPT14	346288	genome.wustl.edu	37	7	55902133	55902133	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:55902133C>T	ENST00000388975.3	-	6	821	c.705G>A	c.(703-705)gcG>gcA	p.A235A		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	235	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGAGGAGTTCGCTTGAGCAG	0.343																																																	0													101.0	87.0	92.0					7																	55902133		2203	4300	6503	SO:0001819	synonymous_variant	346288			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.705G>A	7.37:g.55902133C>T			A6NCC2|B4DXD6	Silent	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.A235	ENST00000388975.3	37	c.705	CCDS5519.2	7																																																																																			SEPT14	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.343	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2	C	NM_207366		55902133	-1	no_errors	ENST00000388975	ensembl	human	known	70_37	silent	SNP	0.312	T
SERPINA7	6906	genome.wustl.edu	37	X	105280684	105280684	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:105280684T>C	ENST00000327674.4	-	1	701	c.366A>G	c.(364-366)ccA>ccG	p.P122P	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Silent_p.P122P			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	122					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTTCCTTCTTTGGAAAATTCA	0.448																																																	0													116.0	115.0	115.0					X																	105280684		2203	4299	6502	SO:0001819	synonymous_variant	6906			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.366A>G	X.37:g.105280684T>C			D3DUX1	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.P122	ENST00000327674.4	37	c.366	CCDS14518.1	X																																																																																			SERPINA7	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.448	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	T	NM_000354		105280684	-1	no_errors	ENST00000327674	ensembl	human	known	70_37	silent	SNP	0.066	C
SERPINA7	6906	genome.wustl.edu	37	X	105280795	105280795	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:105280795G>A	ENST00000327674.4	-	1	590	c.255C>T	c.(253-255)tgC>tgT	p.C85C	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Silent_p.C85C			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	85					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGGTGCTGCAGCAGGCCCCAA	0.502																																																	0													85.0	76.0	79.0					X																	105280795		2203	4300	6503	SO:0001819	synonymous_variant	6906			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.255C>T	X.37:g.105280795G>A			D3DUX1	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.C85	ENST00000327674.4	37	c.255	CCDS14518.1	X																																																																																			SERPINA7	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.502	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	G	NM_000354		105280795	-1	no_errors	ENST00000327674	ensembl	human	known	70_37	silent	SNP	0.001	A
SERPINB13	5275	genome.wustl.edu	37	18	61261713	61261713	+	Missense_Mutation	SNP	G	G	T	rs377348890		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:61261713G>T	ENST00000344731.5	+	6	699	c.597G>T	c.(595-597)gaG>gaT	p.E199D	SERPINB13_ENST00000269489.5_Missense_Mutation_p.E199D	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	199					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTAAGGAAGAGAAATTTTGGA	0.408																																																	0								G	ASP/GLU	0,4406		0,0,2203	86.0	85.0	85.0		597	-2.5	0.6	18		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINB13	NM_012397.3	45	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	199/392	61261713	1,13005	2203	4300	6503	SO:0001583	missense	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.597G>T	18.37:g.61261713G>T	ENSP00000341584:p.Glu199Asp		A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.E199D	ENST00000344731.5	37	c.597	CCDS11985.1	18	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918198	0.33815	0.0	1.16E-4	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.84442	-1.85;-1.85	5.73	-2.46	0.06461	Serpin domain (3);	0.117465	0.38492	N	0.001668	D	0.85344	0.5675	L	0.42686	1.345	0.09310	N	1	B;P;D	0.76494	0.104;0.798;0.999	B;B;D	0.80764	0.203;0.348;0.994	T	0.77138	-0.2698	10	0.44086	T	0.13	.	8.3489	0.32290	0.5586:0.1117:0.3297:0.0	.	208;117;199	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	D	199;117;199	ENSP00000269489:E199D;ENSP00000341584:E199D	ENSP00000269489:E199D	E	+	3	2	SERPINB13	59412693	0.000000	0.05858	0.583000	0.28640	0.981000	0.71138	-1.429000	0.02437	-0.314000	0.08716	0.655000	0.94253	GAG	SERPINB13	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.408	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB13	HGNC	protein_coding	OTTHUMT00000133798.1	G	NM_012397		61261713	+1	no_errors	ENST00000344731	ensembl	human	known	70_37	missense	SNP	0.000	T
SERPINE3	647174	genome.wustl.edu	37	13	51936064	51936064	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:51936064T>G	ENST00000521255.1	+	7	1266	c.1206T>G	c.(1204-1206)atT>atG	p.I402M	RP11-24B19.4_ENST00000602881.1_RNA|SERPINE3_ENST00000400389.4_Intron|RP11-24B19.3_ENST00000602636.1_RNA|SERPINE3_ENST00000524365.1_Intron	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	402					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						TTCAGATAATTTATCAGTGTC	0.393																																																	0													127.0	116.0	119.0					13																	51936064		1839	4081	5920	SO:0001583	missense	647174			AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.1206T>G	13.37:g.51936064T>G	ENSP00000428316:p.Ile402Met		B1V8P3	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.I402M	ENST00000521255.1	37	c.1206	CCDS53870.1	13	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488849	0.44249	.	.	ENSG00000253309	ENST00000521255	D	0.85411	-1.98	4.74	-1.02	0.10135	Serpin domain (1);	0.337352	0.22340	U	0.061343	T	0.60222	0.2252	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.44574	-0.9319	9	.	.	.	.	1.1078	0.01698	0.3138:0.092:0.1627:0.4314	.	402	A8MV23	SERP3_HUMAN	M	402	ENSP00000428316:I402M	.	I	+	3	3	SERPINE3	50834065	0.000000	0.05858	0.005000	0.12908	0.898000	0.52572	-0.217000	0.09253	0.018000	0.15052	0.460000	0.39030	ATT	SERPINE3	-	smart_Serpin_dom		0.393	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SERPINE3	HGNC	protein_coding	OTTHUMT00000045021.2	T	NM_001101320		51936064	+1	no_errors	ENST00000521255	ensembl	human	known	70_37	missense	SNP	0.000	G
SET	6418	genome.wustl.edu	37	9	131456028	131456028	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:131456028G>T	ENST00000372692.4	+	6	884	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	SET_ENST00000477806.1_3'UTR|SET_ENST00000322030.8_Missense_Mutation_p.D202Y|SET_ENST00000409104.3_Missense_Mutation_p.D193Y|SET_ENST00000372688.4_Missense_Mutation_p.D191Y	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	215	Earmuff domain.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TGCAGGTGCTGATGAGTTAGG	0.438			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0													76.0	75.0	75.0					9																	131456028		2203	4299	6502	SO:0001583	missense	6418			M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"""protein phosphatase type 2A inhibitor"", ""Template-Activating Factor-I, chromatin remodelling factor"""	600960	"""SET translocation (myeloid leukemia-associated)"""			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.643G>T	9.37:g.131456028G>T	ENSP00000361777:p.Asp215Tyr		A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP	pfam_NAP_family	p.D215Y	ENST00000372692.4	37	c.643	CCDS48037.1	9	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472054	0.84533	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.24538	1.85;2.96;1.85;2.96;2.96	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.83275	0.985;0.961;0.996	T	0.49244	-0.8960	10	0.87932	D	0	.	18.1692	0.89739	0.0:0.0:1.0:0.0	.	191;202;215	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	Y	215;193;202;191;190	ENSP00000361777:D215Y;ENSP00000387321:D193Y;ENSP00000318012:D202Y;ENSP00000361773:D191Y;ENSP00000361771:D190Y	ENSP00000318012:D202Y	D	+	1	0	SET	130495849	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.849000	0.92178	2.538000	0.85594	0.555000	0.69702	GAT	SET	-	pfam_NAP_family		0.438	SET-001	KNOWN	basic|CCDS	protein_coding	SET	HGNC	protein_coding	OTTHUMT00000054476.2	G	NM_001122821		131456028	+1	no_errors	ENST00000372692	ensembl	human	known	70_37	missense	SNP	1.000	T
SEZ6L	23544	genome.wustl.edu	37	22	26688897	26688897	+	Missense_Mutation	SNP	C	C	T	rs200293457		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:26688897C>T	ENST00000248933.6	+	2	715	c.620C>T	c.(619-621)tCg>tTg	p.S207L	SEZ6L_ENST00000343706.4_Missense_Mutation_p.S207L|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S207L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.S207L|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S207L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	207					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)		p.S207L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCTTCACTTCGCAGCCCTAT	0.662																																																	2	Substitution - Missense(2)	large_intestine(2)											53.0	57.0	56.0					22																	26688897		2201	4293	6494	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.620C>T	22.37:g.26688897C>T	ENSP00000248933:p.Ser207Leu		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S207L	ENST00000248933.6	37	c.620	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659530	0.29515	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.29655	1.82;1.93;2.0;1.82;1.56	4.49	4.49	0.54785	.	0.387872	0.18853	N	0.129344	T	0.14830	0.0358	N	0.08118	0	0.19945	N	0.999948	B;B;B;B;B;B	0.21309	0.004;0.01;0.054;0.025;0.01;0.01	B;B;B;B;B;B	0.12156	0.001;0.001;0.004;0.007;0.001;0.001	T	0.08006	-1.0743	10	0.42905	T	0.14	.	7.4189	0.27061	0.1661:0.7452:0.0:0.0887	.	207;207;207;207;207;207	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	L	207	ENSP00000384772:S207L;ENSP00000437037:S207L;ENSP00000354185:S207L;ENSP00000248933:S207L;ENSP00000342661:S207L	ENSP00000248933:S207L	S	+	2	0	SEZ6L	25018897	0.001000	0.12720	0.606000	0.28943	0.694000	0.40290	0.781000	0.26774	2.216000	0.71823	0.508000	0.49915	TCG	SEZ6L	-	NULL		0.662	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	C			26688897	+1	no_errors	ENST00000248933	ensembl	human	known	70_37	missense	SNP	0.136	T
SF1	7536	genome.wustl.edu	37	11	64536694	64536694	+	Splice_Site	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:64536694C>A	ENST00000377390.3	-	7	1117		c.e7+1		SF1_ENST00000433274.2_Splice_Site|SF1_ENST00000377394.3_Splice_Site|SF1_ENST00000377387.1_Splice_Site|SF1_ENST00000334944.5_Splice_Site|SF1_ENST00000489544.1_Splice_Site|SF1_ENST00000422298.2_Splice_Site|SF1_ENST00000227503.9_Splice_Site	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1						Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGATCACATACCTGTTATCGT	0.453																																																	0													89.0	88.0	88.0					11																	64536694		2201	4297	6498	SO:0001630	splice_region_variant	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.779+1G>T	11.37:g.64536694C>A			B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Splice_Site	SNP	-	e7+1	ENST00000377390.3	37	c.779+1	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464638	0.63513	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8105	0.88614	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SF1	64293270	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.544000	0.82117	2.809000	0.96659	0.557000	0.71058	.	SF1	-	-		0.453	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1	C	NM_004630	Intron	64536694	-1	no_errors	ENST00000377390	ensembl	human	known	70_37	splice_site	SNP	1.000	A
SFXN2	118980	genome.wustl.edu	37	10	104491964	104491964	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:104491964C>T	ENST00000369893.5	+	8	877	c.710C>T	c.(709-711)gCt>gTt	p.A237V		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	237					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ACCATGTCAGCTCCTGGGATG	0.532																																																	0													138.0	128.0	131.0					10																	104491964		2203	4300	6503	SO:0001583	missense	118980			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.710C>T	10.37:g.104491964C>T	ENSP00000358909:p.Ala237Val		Q5JSM6	Missense_Mutation	SNP	pfam_Mtc,tigrfam_Mtc	p.A237V	ENST00000369893.5	37	c.710	CCDS7539.1	10	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737868	0.89573	.	.	ENSG00000156398	ENST00000369893	T	0.27557	1.66	5.94	5.94	0.96194	.	0.044257	0.85682	D	0.000000	T	0.48822	0.1521	L	0.52905	1.665	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.20940	-1.0260	10	0.07644	T	0.81	-13.3404	19.3514	0.94389	0.0:1.0:0.0:0.0	.	237	Q96NB2	SFXN2_HUMAN	V	237	ENSP00000358909:A237V	ENSP00000358909:A237V	A	+	2	0	SFXN2	104481954	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.498000	0.81546	2.826000	0.97356	0.561000	0.74099	GCT	SFXN2	-	pfam_Mtc,tigrfam_Mtc		0.532	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	HGNC	protein_coding	OTTHUMT00000050096.2	C	XM_058359		104491964	+1	no_errors	ENST00000369893	ensembl	human	known	70_37	missense	SNP	1.000	T
SFR1	119392	genome.wustl.edu	37	10	105882805	105882805	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:105882805G>A	ENST00000369727.3	+	2	115	c.96G>A	c.(94-96)gcG>gcA	p.A32A	SFR1_ENST00000336358.5_Silent_p.A94A|SFR1_ENST00000463224.1_3'UTR|SFR1_ENST00000369729.3_Silent_p.A19A	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	32					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											AGGCCTCTGCGAATCCATCAT	0.388																																																	0													94.0	93.0	93.0					10																	105882805		2203	4300	6503	SO:0001819	synonymous_variant	119392			BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.96G>A	10.37:g.105882805G>A			A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Silent	SNP	pfam_Ds-recomb_repair_prot_Mei5	p.A94	ENST00000369727.3	37	c.282	CCDS31279.1	10																																																																																			SFR1	-	pfam_Ds-recomb_repair_prot_Mei5		0.388	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SFR1	HGNC	protein_coding	OTTHUMT00000050191.1	G	NM_145247		105882805	+1	no_errors	ENST00000336358	ensembl	human	known	70_37	silent	SNP	0.000	A
SGCZ	137868	genome.wustl.edu	37	8	15095119	15095119	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:15095119G>A	ENST00000382080.1	-	1	729	c.14C>T	c.(13-15)aCg>aTg	p.T5M		NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	0					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTCCAGGTTCGTTGATCTGTC	0.587																																																	0													41.0	42.0	42.0					8																	15095119		2198	4287	6485	SO:0001583	missense	137868			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.14C>T	8.37:g.15095119G>A	ENSP00000371512:p.Thr5Met		Q6REU0	Missense_Mutation	SNP	pfam_Sarcoglycan	p.T5M	ENST00000382080.1	37	c.14	CCDS5992.2	8	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395427	0.25205	.	.	ENSG00000185053	ENST00000382080	D	0.86956	-2.19	4.05	4.05	0.47172	.	0.753487	0.12291	N	0.482017	T	0.79930	0.4531	.	.	.	0.21841	N	0.999519	B	0.33904	0.431	B	0.22880	0.042	T	0.73920	-0.3830	9	0.72032	D	0.01	.	12.1268	0.53920	0.0:0.1738:0.8262:0.0	.	5	Q96LD1-2	.	M	5	ENSP00000371512:T5M	ENSP00000371512:T5M	T	-	2	0	SGCZ	15139490	0.030000	0.19436	0.075000	0.20258	0.829000	0.46940	2.111000	0.41883	2.553000	0.86117	0.561000	0.74099	ACG	SGCZ	-	NULL		0.587	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SGCZ	HGNC	protein_coding	OTTHUMT00000207636.2	G	NM_139167		15095119	-1	no_errors	ENST00000382080	ensembl	human	known	70_37	missense	SNP	0.033	A
SGOL1	151648	genome.wustl.edu	37	3	20202665	20202665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:20202665G>A	ENST00000263753.4	-	9	1757	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*	SGOL1_ENST00000452020.1_Nonsense_Mutation_p.R271*|SGOL1_ENST00000419233.2_Nonsense_Mutation_p.R288*|SGOL1_ENST00000383774.1_Nonsense_Mutation_p.R194*|SGOL1_ENST00000443724.1_Nonsense_Mutation_p.R194*|SGOL1_ENST00000306698.2_Nonsense_Mutation_p.R271*|SGOL1_ENST00000425061.1_Nonsense_Mutation_p.R288*|SGOL1_ENST00000421451.1_Nonsense_Mutation_p.R540*	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	540					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)	p.R540*(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						acaaattctcgaacataatat	0.388																																																	1	Substitution - Nonsense(1)	large_intestine(1)											73.0	77.0	76.0					3																	20202665		2203	4300	6503	SO:0001587	stop_gained	151648			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1618C>T	3.37:g.20202665G>A	ENSP00000263753:p.Arg540*		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Nonsense_Mutation	SNP	pfam_Shugoshin_N,pfam_Shugoshin_C	p.R540*	ENST00000263753.4	37	c.1618	CCDS33716.1	3	.	.	.	.	.	.	.	.	.	.	-	10.84	1.465390	0.26335	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020	.	.	.	1.57	-3.15	0.05233	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3172	0.04201	0.3748:0.0:0.377:0.2482	.	.	.	.	X	271;288;540;194;288;194;540;271	.	ENSP00000263753:R540X	R	-	1	2	SGOL1	20177669	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.780000	0.01775	-1.058000	0.03197	-0.693000	0.03709	CGA	SGOL1	-	NULL		0.388	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	HGNC	protein_coding	OTTHUMT00000340498.1	G	NM_138484		20202665	-1	no_errors	ENST00000263753	ensembl	human	known	70_37	nonsense	SNP	0.000	A
SH3D21	79729	genome.wustl.edu	37	1	36786140	36786142	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:36786140_36786142delGAG	ENST00000426732.2	+	13	1813_1815	c.1528_1530delGAG	c.(1528-1530)gagdel	p.E511del	EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000453908.2_In_Frame_Del_p.E627del|SH3D21_ENST00000312808.4_In_Frame_Del_p.E273del|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_In_Frame_Del_p.E516del			A4FU49	SH321_HUMAN	SH3 domain containing 21	511						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						GGCTTCCAAAGAGGAGGTGACCC	0.567																																																	0																																										SO:0001651	inframe_deletion	79729			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1528_1530delGAG	1.37:g.36786143_36786145delGAG	ENSP00000408613:p.Glu511del		B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	In_Frame_Del	DEL	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.E627in_frame_del	ENST00000426732.2	37	c.1876_1878		1																																																																																			SH3D21	-	NULL		0.567	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	HGNC	protein_coding		GAG	NM_024676		36786142	+1	no_errors	ENST00000453908	ensembl	human	known	70_37	in_frame_del	DEL	0.000:0.004:0.017	-
SHE	126669	genome.wustl.edu	37	1	154459064	154459064	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154459064C>T	ENST00000304760.2	-	4	1206	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	374										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCGAGAGGGCTGGCTTCAGG	0.592																																																	0													91.0	85.0	87.0					1																	154459064		2203	4300	6503	SO:0001583	missense	126669			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1120G>A	1.37:g.154459064C>T	ENSP00000307369:p.Ala374Thr		Q8TEQ5	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.A374T	ENST00000304760.2	37	c.1120	CCDS30877.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.931|8.931	0.963452|0.963452	0.18583|0.18583	.|.	.|.	ENSG00000169291|ENSG00000169291	ENST00000304760|ENST00000555188	T|.	0.32023|.	1.47|.	5.37|5.37	0.558|0.558	0.17266|0.17266	.|.	0.844505|.	0.10715|.	N|.	0.642424|.	T|T	0.14399|0.14399	0.0348|0.0348	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.29941|0.29941	-0.9995|-0.9995	10|5	0.13108|.	T|.	0.6|.	-17.7169|-17.7169	5.2561|5.2561	0.15548|0.15548	0.0:0.4685:0.1406:0.391|0.0:0.4685:0.1406:0.391	.|.	374|.	Q5VZ18|.	SHE_HUMAN|.	T|N	374|71	ENSP00000307369:A374T|.	ENSP00000307369:A374T|.	A|S	-|-	1|2	0|0	SHE|SHE	152725688|152725688	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.815000|0.815000	0.46073|0.46073	-0.477000|-0.477000	0.06583|0.06583	0.021000|0.021000	0.15133|0.15133	0.591000|0.591000	0.81541|0.81541	GCC|AGC	SHE	-	NULL		0.592	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHE	HGNC	protein_coding	OTTHUMT00000087910.2	C	NM_001010846		154459064	-1	no_errors	ENST00000304760	ensembl	human	known	70_37	missense	SNP	0.142	T
SHISA4	149345	genome.wustl.edu	37	1	201860929	201860929	+	Splice_Site	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:201860929T>C	ENST00000362011.6	+	5	836	c.549T>C	c.(547-549)gcT>gcC	p.A183A	SHISA4_ENST00000464117.1_3'UTR|RP11-307B6.3_ENST00000414927.1_RNA	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	183	Pro-rich.					integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						GGCTTTCAGCTCCTCCTCCCT	0.592																																																	0													251.0	210.0	224.0					1																	201860929		2203	4300	6503	SO:0001630	splice_region_variant	149345			AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"""Shisa homologs"""	27139	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)"""	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.548-1T>C	1.37:g.201860929T>C			B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Silent	SNP	NULL	p.A183	ENST00000362011.6	37	c.549	CCDS1416.1	1																																																																																			SHISA4	-	NULL		0.592	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA4	HGNC	protein_coding	OTTHUMT00000087096.1	T	NM_198149	Silent	201860929	+1	no_errors	ENST00000362011	ensembl	human	known	70_37	silent	SNP	0.999	C
SHROOM1	134549	genome.wustl.edu	37	5	132159474	132159474	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:132159474G>A	ENST00000378679.3	-	8	2616				SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000319854.3_Intron	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1						actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAAACCAGAGCTCCCTGGGT	0.582																																																	0													31.0	35.0	34.0					5																	132159474		2197	4297	6494	SO:0001627	intron_variant	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1812-18C>T	5.37:g.132159474G>A			B7WP40|B7ZL01|Q8TDP0|Q8TF41	RNA	SNP	-	NULL	ENST00000378679.3	37	NULL	CCDS54902.1	5																																																																																			SHROOM1	-	-		0.582	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHROOM1	HGNC	protein_coding	OTTHUMT00000133033.1	G	NM_133456		132159474	-1	no_errors	ENST00000488072	ensembl	human	putative	70_37	rna	SNP	0.028	A
SHROOM3	57619	genome.wustl.edu	37	4	77660882	77660882	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:77660882A>C	ENST00000296043.6	+	5	2509	c.1556A>C	c.(1555-1557)aAc>aCc	p.N519T		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	519					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGAATGGGAACCAGAATGGA	0.522																																																	0													127.0	128.0	127.0					4																	77660882		2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1556A>C	4.37:g.77660882A>C	ENSP00000296043:p.Asn519Thr		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N519T	ENST00000296043.6	37	c.1556	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817625	0.50633	.	.	ENSG00000138771	ENST00000296043	T	0.23754	1.89	5.07	5.07	0.68467	.	0.163888	0.42053	D	0.000774	T	0.45357	0.1338	M	0.67953	2.075	0.36465	D	0.8669	P;D;D	0.89917	0.806;1.0;1.0	B;D;D	0.69307	0.201;0.963;0.946	T	0.53648	-0.8409	10	0.44086	T	0.13	-38.1778	11.0675	0.47985	0.845:0.155:0.0:0.0	.	343;519;297	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	T	519	ENSP00000296043:N519T	ENSP00000296043:N519T	N	+	2	0	SHROOM3	77879906	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	2.139000	0.42149	2.120000	0.65058	0.460000	0.39030	AAC	SHROOM3	-	NULL		0.522	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	A	NM_020859		77660882	+1	no_errors	ENST00000296043	ensembl	human	known	70_37	missense	SNP	1.000	C
SHROOM4	57477	genome.wustl.edu	37	X	50345650	50345650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:50345650C>A	ENST00000289292.7	-	7	4208	c.3925G>T	c.(3925-3927)Gaa>Taa	p.E1309*	SHROOM4_ENST00000376020.2_Nonsense_Mutation_p.E1309*|SHROOM4_ENST00000460112.3_Nonsense_Mutation_p.E1193*			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1309	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGAGCCAGTTCATGGTCAACT	0.418																																																	0													178.0	154.0	162.0					X																	50345650		2203	4300	6503	SO:0001587	stop_gained	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3925G>T	X.37:g.50345650C>A	ENSP00000289292:p.Glu1309*		A7E2X9|D6RFW0|Q96LA0	Nonsense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1309*	ENST00000289292.7	37	c.3925	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	c	43	10.095982	0.99336	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	.	.	.	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4557	0.87606	0.0:1.0:0.0:0.0	.	.	.	.	X	1309;1309;1193	.	ENSP00000289292:E1309X	E	-	1	0	SHROOM4	50362390	0.822000	0.29219	0.990000	0.47175	0.915000	0.54546	1.489000	0.35562	2.391000	0.81399	0.509000	0.49947	GAA	SHROOM4	-	pfam_ASD2		0.418	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	C	NM_020717		50345650	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	nonsense	SNP	0.998	A
SHROOM4	57477	genome.wustl.edu	37	X	50350419	50350419	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:50350419A>C	ENST00000289292.7	-	6	4006	c.3723T>G	c.(3721-3723)ctT>ctG	p.L1241L	SHROOM4_ENST00000376020.2_Silent_p.L1241L|SHROOM4_ENST00000460112.3_Silent_p.L1125L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1241	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATGTCCTCCAAAGCCCACCAA	0.493																																																	0													63.0	54.0	57.0					X																	50350419		2203	4300	6503	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3723T>G	X.37:g.50350419A>C			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1241	ENST00000289292.7	37	c.3723	CCDS35277.1	X																																																																																			SHROOM4	-	pfam_ASD2		0.493	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	A	NM_020717		50350419	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	silent	SNP	0.985	C
SI	6476	genome.wustl.edu	37	3	164714322	164714322	+	Splice_Site	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:164714322C>A	ENST00000264382.3	-	40	4755		c.e40+1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAATTACATACTCTAGTATTT	0.343										HNSCC(35;0.089)																																							0													77.0	76.0	76.0					3																	164714322		2203	4295	6498	SO:0001630	splice_region_variant	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4692+1G>T	3.37:g.164714322C>A			A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	-	e39+1	ENST00000264382.3	37	c.4692+1	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131148	0.37630	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7358	0.88392	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166197016	1.000000	0.71417	0.921000	0.36526	0.129000	0.20672	3.302000	0.51849	2.599000	0.87857	0.585000	0.79938	.	SI	-	-		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	C	NM_001041	Intron	164714322	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	splice_site	SNP	0.991	A
SIDT1	54847	genome.wustl.edu	37	3	113345005	113345005	+	Silent	SNP	C	C	T	rs150661858		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:113345005C>T	ENST00000264852.4	+	24	3090	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.F793F	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	788					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGGATTTCTTCGATGACCATG	0.488																																																	0													271.0	249.0	256.0					3																	113345005		2203	4300	6503	SO:0001819	synonymous_variant	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.2364C>T	3.37:g.113345005C>T			Q17RR4	Silent	SNP	NULL	p.F793	ENST00000264852.4	37	c.2379	CCDS2974.1	3																																																																																			SIDT1	-	NULL		0.488	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	HGNC	protein_coding	OTTHUMT00000317564.1	C	NM_017699		113345005	+1	no_errors	ENST00000393830	ensembl	human	known	70_37	silent	SNP	0.999	T
SI	6476	genome.wustl.edu	37	3	164732962	164732962	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:164732962C>A	ENST00000264382.3	-	33	4010	c.3948G>T	c.(3946-3948)caG>caT	p.Q1316H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1316	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGACATCATTCTGCTGTCCTC	0.308										HNSCC(35;0.089)																																							0													96.0	91.0	93.0					3																	164732962		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3948G>T	3.37:g.164732962C>A	ENSP00000264382:p.Gln1316His		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.Q1316H	ENST00000264382.3	37	c.3948	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	9.819	1.185247	0.21870	.	.	ENSG00000090402	ENST00000264382	D	0.92965	-3.14	5.35	-4.54	0.03452	Glycoside hydrolase, superfamily (1);	0.560850	0.19028	N	0.124633	D	0.90521	0.7030	L	0.49640	1.575	0.09310	N	1	P	0.41366	0.747	P	0.57009	0.811	D	0.83620	0.0139	10	0.51188	T	0.08	.	4.0298	0.09703	0.1733:0.2236:0.0852:0.5179	.	1316	P14410	SUIS_HUMAN	H	1316	ENSP00000264382:Q1316H	ENSP00000264382:Q1316H	Q	-	3	2	SI	166215656	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-1.600000	0.02083	-0.960000	0.03613	-0.186000	0.12905	CAG	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.308	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	C	NM_001041		164732962	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.000	A
SIDT2	51092	genome.wustl.edu	37	11	117053326	117053326	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:117053326A>C	ENST00000324225.4	+	5	1139	c.608A>C	c.(607-609)cAg>cCg	p.Q203P	SIDT2_ENST00000431081.2_Missense_Mutation_p.Q203P|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	203					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		ATCTCCATTCAGGATGTGCTG	0.567																																																	0													121.0	102.0	109.0					11																	117053326		2201	4296	6497	SO:0001583	missense	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.608A>C	11.37:g.117053326A>C	ENSP00000314023:p.Gln203Pro		Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.Q203P	ENST00000324225.4	37	c.608	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429454	0.83776	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.994;1.0;1.0	T	0.70215	-0.4933	10	0.72032	D	0.01	-17.8094	14.6587	0.68852	1.0:0.0:0.0:0.0	.	203;203;203;203	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	P	203;203;203;53	ENSP00000314023:Q203P;ENSP00000278951:Q203P;ENSP00000399635:Q203P;ENSP00000436983:Q53P	ENSP00000278951:Q203P	Q	+	2	0	SIDT2	116558536	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.686000	0.91250	2.118000	0.64928	0.533000	0.62120	CAG	SIDT2	-	NULL		0.567	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	A	NM_015996		117053326	+1	no_errors	ENST00000278951	ensembl	human	known	70_37	missense	SNP	1.000	C
SIGLEC11	114132	genome.wustl.edu	37	19	50453275	50453275	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:50453275G>A	ENST00000447370.2	-	11	2139	c.2049C>T	c.(2047-2049)ggC>ggT	p.G683G	SIGLEC11_ENST00000426971.2_Silent_p.G587G|CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	683					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GAAGCCCAAAGCCTGGGCCCC	0.607																																																	0													34.0	32.0	33.0					19																	50453275		2202	4300	6502	SO:0001819	synonymous_variant	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.2049C>T	19.37:g.50453275G>A				Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G683	ENST00000447370.2	37	c.2049	CCDS12790.2	19	.	.	.	.	.	.	.	.	.	.	G	1.810	-0.474877	0.04414	.	.	ENSG00000161640	ENST00000426971	.	.	.	1.66	0.605	0.17553	.	.	.	.	.	T	0.23766	0.0575	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24297	-1.0164	4	.	.	.	.	3.8883	0.09108	0.2295:0.0:0.7705:0.0	.	.	.	.	V	577	.	.	A	-	2	0	SIGLEC11	55145087	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.786000	0.04623	0.259000	0.21709	0.467000	0.42956	GCT	SIGLEC11	-	NULL		0.607	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC11	HGNC	protein_coding	OTTHUMT00000347382.1	G	NM_052884		50453275	-1	no_errors	ENST00000447370	ensembl	human	known	70_37	silent	SNP	0.000	A
SIGLEC8	27181	genome.wustl.edu	37	19	51958774	51958774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:51958774G>A	ENST00000321424.3	-	4	1015	c.949C>T	c.(949-951)Cga>Tga	p.R317*	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.R224*|SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.R208*	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	317	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACGTGCACTCGAGGCAGCTCC	0.637																																																	0													49.0	46.0	47.0					19																	51958774		2203	4300	6503	SO:0001587	stop_gained	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.949C>T	19.37:g.51958774G>A	ENSP00000321077:p.Arg317*		Q7Z728	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R317*	ENST00000321424.3	37	c.949	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	16.56	3.158677	0.57368	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	.	.	.	2.19	1.13	0.20643	.	1.846090	0.03638	N	0.238994	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8724	0.13639	0.1835:0.0:0.8165:0.0	.	.	.	.	X	208;317;224	.	ENSP00000321077:R317X	R	-	1	2	SIGLEC8	56650586	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.097000	0.15168	0.484000	0.27630	0.502000	0.49764	CGA	SIGLEC8	-	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.637	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	G	NM_014442		51958774	-1	no_errors	ENST00000321424	ensembl	human	known	70_37	nonsense	SNP	0.000	A
SIM2	6493	genome.wustl.edu	37	21	38115793	38115793	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:38115793A>C	ENST00000290399.6	+	9	1717	c.1104A>C	c.(1102-1104)aaA>aaC	p.K368N	SIM2_ENST00000430056.3_Missense_Mutation_p.K368N	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	368	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AAACTAGGAAATTAGTGAAAC	0.493																																																	0													164.0	162.0	163.0					21																	38115793		2203	4300	6503	SO:0001583	missense	6493				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1104A>C	21.37:g.38115793A>C	ENSP00000290399:p.Lys368Asn		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	pfam_SIM_C,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	p.K368N	ENST00000290399.6	37	c.1104	CCDS13646.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.35|10.35	1.325080|1.325080	0.24080|0.24080	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000431229|ENST00000290399;ENST00000430056	.|T;T	.|0.45668	.|0.89;0.89	4.43|4.43	-3.82|-3.82	0.04281|0.04281	.|Single-minded, C-terminal (2);	.|2.543740	.|0.02297	.|N	.|0.070795	T|T	0.33469|0.33469	0.0864|0.0864	L|L	0.31065|0.31065	0.9|0.9	0.21604|0.21604	N|N	0.999623|0.999623	.|B;B	.|0.24258	.|0.1;0.009	.|B;B	.|0.25405	.|0.06;0.023	T|T	0.32402|0.32402	-0.9908|-0.9908	5|10	.|0.36615	.|T	.|0.2	.|.	12.26|12.26	0.54645|0.54645	0.4488:0.0:0.5512:0.0|0.4488:0.0:0.5512:0.0	.|.	.|368;368	.|Q14190;Q14190-2	.|SIM2_HUMAN;.	L|N	306|368	.|ENSP00000290399:K368N;ENSP00000404176:K368N	.|ENSP00000290399:K368N	I|K	+|+	1|3	0|2	SIM2|SIM2	37037663|37037663	0.983000|0.983000	0.35010|0.35010	0.223000|0.223000	0.23860|0.23860	0.539000|0.539000	0.34962|0.34962	0.475000|0.475000	0.22164|0.22164	-0.723000|-0.723000	0.04915|0.04915	0.334000|0.334000	0.21626|0.21626	ATT|AAA	SIM2	-	pfam_SIM_C		0.493	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	A	NM_009586		38115793	+1	no_errors	ENST00000290399	ensembl	human	known	70_37	missense	SNP	0.023	C
SIN3B	23309	genome.wustl.edu	37	19	16977349	16977349	+	Silent	SNP	C	C	T	rs141051908		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:16977349C>T	ENST00000248054.5	+	12	1809	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	SIN3B_ENST00000379803.1_Silent_p.I628I|SIN3B_ENST00000595541.1_Silent_p.I186I					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCAACGAGATCGAGAGCGTCT	0.612																																																	0								C		0,4406		0,0,2203	124.0	88.0	100.0		1884	-3.4	1.0	19	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SIN3B	NM_015260.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		628/1163	16977349	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1788C>T	19.37:g.16977349C>T				Silent	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.I628	ENST00000248054.5	37	c.1884		19																																																																																			SIN3B	-	NULL		0.612	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	C	NM_015260		16977349	+1	no_errors	ENST00000379803	ensembl	human	known	70_37	silent	SNP	0.781	T
SIPA1L1	26037	genome.wustl.edu	37	14	72054863	72054863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:72054863G>T	ENST00000555818.1	+	2	622	c.274G>T	c.(274-276)Gaa>Taa	p.E92*	SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.E92*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.E92*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	92					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAACATAAAAGAATCTAGCCG	0.473																																																	0													99.0	107.0	104.0					14																	72054863		2203	4300	6503	SO:0001587	stop_gained	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.274G>T	14.37:g.72054863G>T	ENSP00000450832:p.Glu92*		J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E92*	ENST00000555818.1	37	c.274	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	44	10.795135	0.99469	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	.	.	.	5.63	5.63	0.86233	.	0.140928	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-17.1146	20.0499	0.97621	0.0:0.0:1.0:0.0	.	.	.	.	X	92	.	ENSP00000351352:E92X	E	+	1	0	SIPA1L1	71124616	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.766000	0.68843	2.798000	0.96311	0.655000	0.94253	GAA	SIPA1L1	-	NULL		0.473	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	G	NM_015556		72054863	+1	no_errors	ENST00000555818	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SIPA1L2	57568	genome.wustl.edu	37	1	232650491	232650491	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:232650491C>T	ENST00000366630.1	-	2	953	c.595G>A	c.(595-597)Gac>Aac	p.D199N	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D199N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	199					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCTTGCCTGTCGATGGATGAA	0.473																																																	0													128.0	124.0	125.0					1																	232650491		1909	4126	6035	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.595G>A	1.37:g.232650491C>T	ENSP00000355589:p.Asp199Asn		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.D199N	ENST00000366630.1	37	c.595	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070852	0.55539	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.44482	0.92;0.92	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	L	0.31926	0.97	0.58432	D	0.999994	P	0.46656	0.882	B	0.41299	0.353	T	0.22730	-1.0208	10	0.48119	T	0.1	-46.5195	18.9136	0.92496	0.0:1.0:0.0:0.0	.	199	Q9P2F8	SI1L2_HUMAN	N	199	ENSP00000355589:D199N;ENSP00000262861:D199N	ENSP00000262861:D199N	D	-	1	0	SIPA1L2	230717114	1.000000	0.71417	0.987000	0.45799	0.853000	0.48598	5.895000	0.69814	2.708000	0.92522	0.650000	0.86243	GAC	SIPA1L2	-	NULL		0.473	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	C	XM_045839		232650491	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	missense	SNP	0.999	T
SIPA1L3	23094	genome.wustl.edu	37	19	38610312	38610312	+	Silent	SNP	C	C	T	rs199695282	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:38610312C>T	ENST00000222345.6	+	9	3167	c.2658C>T	c.(2656-2658)atC>atT	p.I886I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	886					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGTGGAAATCGACTGCATTT	0.572																																																	0													103.0	118.0	113.0					19																	38610312		2202	4300	6502	SO:0001819	synonymous_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2658C>T	19.37:g.38610312C>T			Q2TV87	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.I886	ENST00000222345.6	37	c.2658	CCDS33007.1	19																																																																																			SIPA1L3	-	NULL		0.572	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	C	XM_032278		38610312	+1	no_errors	ENST00000222345	ensembl	human	known	70_37	silent	SNP	0.660	T
SIRT5	23408	genome.wustl.edu	37	6	13601168	13601168	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:13601168A>G	ENST00000606117.1	+	9	1140	c.844A>G	c.(844-846)Acg>Gcg	p.T282A	SIRT5_ENST00000397350.2_Missense_Mutation_p.T174A|SIRT5_ENST00000359782.3_Missense_Mutation_p.T264A|SIRT5_ENST00000379262.4_Missense_Mutation_p.T282A	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CACCCCAGCTACGAACAGATT	0.552																																																	0													66.0	56.0	59.0					6																	13601168		2203	4300	6503	SO:0001583	missense	23408			AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.844A>G	6.37:g.13601168A>G	ENSP00000476228:p.Thr282Ala			Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.T282A	ENST00000606117.1	37	c.844	CCDS4526.1	6	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921709	0.73213	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000397350;ENST00000379250	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.07	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	L	0.52759	1.655	0.80722	D	1	D;P;D	0.59767	0.972;0.953;0.986	P;P;D	0.66716	0.904;0.804;0.946	T	0.30416	-0.9979	10	0.39692	T	0.17	-23.5984	11.1136	0.48247	0.9265:0.0:0.0735:0.0	.	264;282;282	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	A	264;282;174;282	ENSP00000352830:T264A;ENSP00000368564:T282A;ENSP00000380509:T174A;ENSP00000368552:T282A	ENSP00000352830:T264A	T	+	1	0	SIRT5	13709147	1.000000	0.71417	0.975000	0.42487	0.923000	0.55619	6.737000	0.74816	0.871000	0.35750	0.482000	0.46254	ACG	SIRT5	-	pfscan_Ssirtuin_cat_dom		0.552	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT5	HGNC	protein_coding	OTTHUMT00000039908.2	A			13601168	+1	no_errors	ENST00000379250	ensembl	human	known	70_37	missense	SNP	0.998	G
SKIV2L	6499	genome.wustl.edu	37	6	31933633	31933633	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:31933633G>A	ENST00000375394.2	+	18	2158	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R489H	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	682	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GACTCCATGCGCAAACACGAT	0.592																																																	0													127.0	97.0	108.0					6																	31933633		1511	2709	4220	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2045G>A	6.37:g.31933633G>A	ENSP00000364543:p.Arg682His		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R682H	ENST00000375394.2	37	c.2045	CCDS4731.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.549362	0.96501	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.44881	0.91;0.91	5.48	5.48	0.80851	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	L	0.48986	1.54	0.80722	D	1	P	0.45986	0.87	B	0.36766	0.232	T	0.30387	-0.9980	10	0.87932	D	0	-17.6245	18.126	0.89586	0.0:0.0:1.0:0.0	.	682	Q15477	SKIV2_HUMAN	H	682;524;489	ENSP00000364543:R682H;ENSP00000442645:R489H	ENSP00000364543:R682H	R	+	2	0	SKIV2L	32041612	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.389000	0.90172	2.581000	0.87130	0.655000	0.94253	CGC	SKIV2L	-	pfam_Helicase_C,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C		0.592	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	HGNC	protein_coding	OTTHUMT00000076264.3	G			31933633	+1	no_errors	ENST00000375394	ensembl	human	known	70_37	missense	SNP	1.000	A
SKP2	6502	genome.wustl.edu	37	5	36183987	36183987	+	3'UTR	SNP	C	C	T	rs374749102		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:36183987C>T	ENST00000274255.6	+	0	3325				SKP2_ENST00000274254.5_Silent_p.I369I	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTCTGACATCGGATGCCCTC	0.363																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	98.0	94.0	95.0		1107	2.0	0.0	5		95	0,8600		0,0,4300	no	coding-synonymous	SKP2	NM_032637.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		369/411	36183987	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	6502			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.*1854C>T	5.37:g.36183987C>T			A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.I369	ENST00000274255.6	37	c.1107	CCDS3916.1	5																																																																																			SKP2	-	NULL		0.363	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SKP2	HGNC	protein_coding	OTTHUMT00000253769.2	C	NM_005983		36183987	+1	no_errors	ENST00000274254	ensembl	human	known	70_37	silent	SNP	0.018	T
SLC10A5	347051	genome.wustl.edu	37	8	82606649	82606650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:82606649_82606650insA	ENST00000518568.1	-	1	1759_1760	c.558_559insT	c.(556-561)tttctgfs	p.L187fs		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	187						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AATGGCATCAGAAAAAACTGTG	0.45																																																	0																																										SO:0001589	frameshift_variant	347051				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.559dupT	8.37:g.82606655_82606655dupA	ENSP00000428612:p.Leu187fs		B2RN26	Frame_Shift_Ins	INS	pfam_BilAc/Na_symport	p.L186fs	ENST00000518568.1	37	c.559_558	CCDS34915.1	8																																																																																			SLC10A5	-	pfam_BilAc/Na_symport		0.450	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A5	HGNC	protein_coding	OTTHUMT00000379736.1	-	XM_294493		82606650	-1	no_errors	ENST00000518568	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
SLC12A4	6560	genome.wustl.edu	37	16	67995560	67995560	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:67995560A>G	ENST00000316341.3	-	3	400	c.260T>C	c.(259-261)gTc>gCc	p.V87A	SLC12A4_ENST00000572037.1_Missense_Mutation_p.V39A|SLC12A4_ENST00000537830.2_Missense_Mutation_p.V81A|SLC12A4_ENST00000422611.2_Missense_Mutation_p.V89A|SLC12A4_ENST00000541864.2_Missense_Mutation_p.V56A|SLC12A4_ENST00000338335.3_Missense_Mutation_p.V87A|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000576616.1_Missense_Mutation_p.V87A	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	87					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGTGTAGCTGACGAGCTTTCC	0.642																																																	0													109.0	98.0	102.0					16																	67995560		2198	4300	6498	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.260T>C	16.37:g.67995560A>G	ENSP00000318557:p.Val87Ala		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.V89A	ENST00000316341.3	37	c.266	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	A	6.437	0.448766	0.12223	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.86562	-1.65;-1.61;-1.61;-2.14;-1.61	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.73164	0.3552	N	0.10733	0.035	0.58432	D	0.999999	B;B;B;B;B;B	0.09022	0.001;0.0;0.002;0.001;0.001;0.0	B;B;B;B;B;B	0.15052	0.002;0.001;0.012;0.001;0.001;0.001	T	0.69239	-0.5197	10	0.02654	T	1	.	16.1641	0.81743	1.0:0.0:0.0:0.0	.	89;87;56;81;87;87	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	A	89;56;81;87;87	ENSP00000395983:V89A;ENSP00000438334:V56A;ENSP00000445962:V81A;ENSP00000343374:V87A;ENSP00000318557:V87A	ENSP00000318557:V87A	V	-	2	0	SLC12A4	66553061	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.926000	0.40084	2.225000	0.72522	0.379000	0.24179	GTC	SLC12A4	-	tigrfam_Na/K/Cl_cotransptS		0.642	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	A	NM_005072		67995560	-1	no_errors	ENST00000422611	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC17A4	10050	genome.wustl.edu	37	6	25770363	25770363	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:25770363C>T	ENST00000377905.4	+	4	485	c.366C>T	c.(364-366)ttC>ttT	p.F122F	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	122					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGGCTCATTCTTGGCTCCAA	0.473																																																	0													180.0	175.0	176.0					6																	25770363		2203	4300	6503	SO:0001819	synonymous_variant	10050			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.366C>T	6.37:g.25770363C>T			B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F122	ENST00000377905.4	37	c.366	CCDS4564.1	6																																																																																			SLC17A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.473	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	C			25770363	+1	no_errors	ENST00000377905	ensembl	human	known	70_37	silent	SNP	0.006	T
SLC17A3	10786	genome.wustl.edu	37	6	25868604	25868604	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:25868604C>A	ENST00000360657.3	-	2	297	c.12G>T	c.(10-12)aaG>aaT	p.K4N	SLC17A3_ENST00000361703.6_Missense_Mutation_p.K4N|SLC17A3_ENST00000397060.4_Missense_Mutation_p.K4N			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	4					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TCAACTCTGTCTTGGTGGCCA	0.463																																																	0													258.0	223.0	235.0					6																	25868604		2203	4300	6503	SO:0001583	missense	10786			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.12G>T	6.37:g.25868604C>A	ENSP00000353873:p.Lys4Asn		B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K4N	ENST00000360657.3	37	c.12	CCDS4566.2	6	.	.	.	.	.	.	.	.	.	.	C	9.011	0.982533	0.18889	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.64438	-0.1;0.08;0.08	3.47	0.627	0.17675	.	0.994857	0.08136	N	0.992292	T	0.22166	0.0534	N	0.22421	0.69	0.09310	N	1	B;B;B	0.27068	0.072;0.167;0.072	B;B;B	0.23275	0.021;0.045;0.021	T	0.17653	-1.0362	10	0.34782	T	0.22	.	5.9375	0.19173	0.0:0.6493:0.0:0.3507	.	4;4;4	B7Z531;B7Z511;O00476	.;.;NPT4_HUMAN	N	4	ENSP00000380250:K4N;ENSP00000353873:K4N;ENSP00000355307:K4N	ENSP00000353873:K4N	K	-	3	2	SLC17A3	25976583	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.807000	0.04520	0.101000	0.17610	0.650000	0.86243	AAG	SLC17A3	-	superfamily_MFS_dom_general_subst_transpt		0.463	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	SLC17A3	HGNC	protein_coding	OTTHUMT00000040070.2	C			25868604	-1	no_errors	ENST00000397060	ensembl	human	known	70_37	missense	SNP	0.000	A
SLC17A2	10246	genome.wustl.edu	37	6	25917219	25917219	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:25917219A>G	ENST00000265425.3	-	6	766	c.746T>C	c.(745-747)aTc>aCc	p.I249T	SLC17A2_ENST00000360488.3_Missense_Mutation_p.I249T|SLC17A2_ENST00000377850.3_Missense_Mutation_p.I249T			O00624	NPT3_HUMAN	solute carrier family 17, member 2	249					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGGACAGGATGTGCTCCTT	0.537																																																	0													135.0	109.0	118.0					6																	25917219		2203	4300	6503	SO:0001583	missense	10246			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.746T>C	6.37:g.25917219A>G	ENSP00000265425:p.Ile249Thr		A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I249T	ENST00000265425.3	37	c.746		6	.	.	.	.	.	.	.	.	.	.	A	17.06	3.292915	0.60086	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.60424	0.19;0.19;0.19	4.65	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000024	T	0.79879	0.4522	H	0.97611	4.04	0.45172	D	0.998184	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.85601	0.1252	10	0.87932	D	0	.	10.6641	0.45719	1.0:0.0:0.0:0.0	.	249;249;249	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	T	249	ENSP00000353677:I249T;ENSP00000367081:I249T;ENSP00000265425:I249T	ENSP00000265425:I249T	I	-	2	0	SLC17A2	26025198	1.000000	0.71417	0.473000	0.27253	0.615000	0.37417	6.139000	0.71728	2.067000	0.61834	0.460000	0.39030	ATC	SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.537	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	A			25917219	-1	no_errors	ENST00000377850	ensembl	human	known	70_37	missense	SNP	0.986	G
SLC1A1	6505	genome.wustl.edu	37	9	4576646	4576646	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:4576646T>G	ENST00000262352.3	+	10	1312	c.1076T>G	c.(1075-1077)tTa>tGa	p.L359*		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	359					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	CGATTCGTGTTACCCGTTGGT	0.483																																																	0													218.0	199.0	205.0					9																	4576646		2203	4300	6503	SO:0001587	stop_gained	6505				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1076T>G	9.37:g.4576646T>G	ENSP00000262352:p.Leu359*		O75587|Q5VZ24|Q8N199|Q9UEW2	Nonsense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L359*	ENST00000262352.3	37	c.1076	CCDS6452.1	9	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910813	0.72983	.	.	ENSG00000106688	ENST00000262352	.	.	.	5.54	5.54	0.83059	.	0.067345	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6606	0.77186	0.0:0.0:0.0:1.0	.	.	.	.	X	359	.	ENSP00000262352:L359X	L	+	2	0	SLC1A1	4566646	0.984000	0.35163	0.037000	0.18230	0.273000	0.26683	8.024000	0.88770	2.097000	0.63578	0.533000	0.62120	TTA	SLC1A1	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.483	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A1	HGNC	protein_coding	OTTHUMT00000051571.1	T			4576646	+1	no_errors	ENST00000262352	ensembl	human	known	70_37	nonsense	SNP	0.764	G
SLC22A8	9376	genome.wustl.edu	37	11	62766483	62766483	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:62766483A>C	ENST00000336232.2	-	5	806	c.671T>G	c.(670-672)aTt>aGt	p.I224S	SLC22A8_ENST00000430500.2_Missense_Mutation_p.I224S|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000545207.1_Missense_Mutation_p.I133S|SLC22A8_ENST00000311438.8_Missense_Mutation_p.I224S|SLC22A8_ENST00000535878.1_Missense_Mutation_p.I101S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	224					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GCCGGGCAGAATGAACTGGCC	0.582																																																	0													117.0	105.0	109.0					11																	62766483		2201	4298	6499	SO:0001583	missense	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.671T>G	11.37:g.62766483A>C	ENSP00000337335:p.Ile224Ser		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.I224S	ENST00000336232.2	37	c.671	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120881	0.77436	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	4.88	4.88	0.63580	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.514303	0.21370	N	0.075659	T	0.80347	0.4606	L	0.55834	1.745	0.44061	D	0.996808	P;P;P	0.49307	0.904;0.853;0.922	P;P;P	0.57720	0.733;0.826;0.826	T	0.82008	-0.0670	10	0.87932	D	0	.	12.4535	0.55691	1.0:0.0:0.0:0.0	.	224;224;224	Q8TCC7-2;Q8TCC7;B2R807	.;S22A8_HUMAN;.	S	224;210;133;101;224;224	ENSP00000337335:I224S;ENSP00000441658:I133S;ENSP00000443368:I101S;ENSP00000311463:I224S;ENSP00000398548:I224S	ENSP00000311463:I224S	I	-	2	0	SLC22A8	62523059	0.997000	0.39634	0.697000	0.30258	0.680000	0.39746	7.977000	0.88081	1.836000	0.53414	0.454000	0.30748	ATT	SLC22A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.582	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	HGNC	protein_coding	OTTHUMT00000396191.1	A	NM_004254		62766483	-1	no_errors	ENST00000336232	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC24A5	283652	genome.wustl.edu	37	15	48434526	48434526	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:48434526A>C	ENST00000341459.3	+	9	1554	c.1481A>C	c.(1480-1482)aAa>aCa	p.K494T	SLC24A5_ENST00000449382.2_Missense_Mutation_p.K434T|MYEF2_ENST00000324324.7_3'UTR|MYEF2_ENST00000267836.6_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	494					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GGAAATAATAAAATAAGGGGC	0.348																																																	0													40.0	43.0	42.0					15																	48434526		2198	4294	6492	SO:0001583	missense	283652			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1481A>C	15.37:g.48434526A>C	ENSP00000341550:p.Lys494Thr		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.K494T	ENST00000341459.3	37	c.1481	CCDS10128.1	15	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664569	0.29604	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.75050	-0.9;-0.88	5.65	3.36	0.38483	.	0.371804	0.33075	N	0.005316	T	0.51787	0.1695	N	0.22421	0.69	0.80722	D	1	P;B	0.34462	0.454;0.201	B;B	0.24541	0.054;0.054	T	0.48670	-0.9015	10	0.37606	T	0.19	.	5.4176	0.16382	0.5359:0.2901:0.174:0.0	.	434;494	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	T	494;434	ENSP00000341550:K494T;ENSP00000389966:K434T	ENSP00000341550:K494T	K	+	2	0	SLC24A5	46221818	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.345000	0.52182	1.081000	0.41110	0.528000	0.53228	AAA	SLC24A5	-	NULL		0.348	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A5	HGNC	protein_coding	OTTHUMT00000254340.2	A	NM_205850		48434526	+1	no_errors	ENST00000341459	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC25A35	399512	genome.wustl.edu	37	17	8194264	8194264	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:8194264G>A	ENST00000577745.1	-	4	1135	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	SLC25A35_ENST00000579192.1_Silent_p.L209L|SLC25A35_ENST00000396278.1_Silent_p.L209L|SLC25A35_ENST00000581320.1_5'Flank|SLC25A35_ENST00000580340.1_Silent_p.L209L|SLC25A35_ENST00000380067.2_Silent_p.L209L			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	209					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						GCAGCCACCAGCGCCAACTTC	0.562																																																	0													73.0	67.0	69.0					17																	8194264		2203	4300	6503	SO:0001819	synonymous_variant	399512			AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"""Solute carriers"""	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.625C>T	17.37:g.8194264G>A			Q494X5|Q6RGS3|Q8N7Y5	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L209	ENST00000577745.1	37	c.625		17																																																																																			SLC25A35	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.562	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	SLC25A35	HGNC	protein_coding	OTTHUMT00000442146.1	G	NM_201520		8194264	-1	no_errors	ENST00000577745	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC25A44	9673	genome.wustl.edu	37	1	156177734	156177734	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:156177734C>T	ENST00000359511.4	+	3	855	c.683C>T	c.(682-684)tCg>tTg	p.S228L	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.S205L	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	228					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					CAAGCTGTCTCGGGGCCCCTG	0.552																																																	0													109.0	90.0	97.0					1																	156177734		2203	4300	6503	SO:0001583	missense	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.683C>T	1.37:g.156177734C>T	ENSP00000352497:p.Ser228Leu		O75034	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.S228L	ENST00000359511.4	37	c.683	CCDS1133.1	1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207870	0.58343	.	.	ENSG00000160785	ENST00000359511;ENST00000423538	T;T	0.79247	-1.25;-1.25	5.17	4.26	0.50523	Mitochondrial carrier domain (2);	0.063541	0.64402	D	0.000009	T	0.80407	0.4617	M	0.71871	2.18	0.52099	D	0.999941	P;D;D	0.56287	0.948;0.975;0.975	B;P;P	0.60236	0.44;0.871;0.804	D	0.83385	0.0014	10	0.87932	D	0	-0.2931	11.5257	0.50578	0.0:0.9139:0.0:0.0861	.	205;205;228	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	L	228;205	ENSP00000352497:S228L;ENSP00000407560:S205L	ENSP00000352497:S228L	S	+	2	0	SLC25A44	154444358	1.000000	0.71417	0.918000	0.36340	0.114000	0.19823	7.435000	0.80391	1.407000	0.46875	-0.158000	0.13435	TCG	SLC25A44	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.552	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1	C	NM_014655		156177734	+1	no_errors	ENST00000359511	ensembl	human	known	70_37	missense	SNP	0.998	T
SLC26A2	1836	genome.wustl.edu	37	5	149360293	149360293	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:149360293T>C	ENST00000286298.4	+	3	1405	c.1137T>C	c.(1135-1137)atT>atC	p.I379I		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	379					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAACCTAATTCCTAGTGTGG	0.383																																																	0													102.0	96.0	98.0					5																	149360293		2203	4300	6503	SO:0001819	synonymous_variant	1836			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1137T>C	5.37:g.149360293T>C			A8K2U3|B2R6J1|Q6N051	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I379	ENST00000286298.4	37	c.1137	CCDS4300.1	5																																																																																			SLC26A2	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.383	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A2	HGNC	protein_coding	OTTHUMT00000252333.2	T	NM_000112		149360293	+1	no_errors	ENST00000286298	ensembl	human	known	70_37	silent	SNP	0.993	C
SLC26A7	115111	genome.wustl.edu	37	8	92374634	92374634	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:92374634A>G	ENST00000276609.3	+	12	1607	c.1368A>G	c.(1366-1368)ggA>ggG	p.G456G	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Silent_p.G456G|SLC26A7_ENST00000523719.1_Silent_p.G456G	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCAATGTGGGACTGCTGTTTG	0.393																																																	0													356.0	300.0	319.0					8																	92374634		2203	4300	6503	SO:0001819	synonymous_variant	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1368A>G	8.37:g.92374634A>G				Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.G456	ENST00000276609.3	37	c.1368	CCDS6254.1	8																																																																																			SLC26A7	-	NULL		0.393	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377011.1	A			92374634	+1	no_errors	ENST00000309536	ensembl	human	known	70_37	silent	SNP	0.999	G
SLC26A9	115019	genome.wustl.edu	37	1	205892288	205892288	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:205892288C>T	ENST00000367135.3	-	16	1808	c.1695G>A	c.(1693-1695)aaG>aaA	p.K565K	SLC26A9_ENST00000340781.4_Silent_p.K565K|SLC26A9_ENST00000367134.2_Silent_p.K565K	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	565	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGTATTTTTGCTTGGCTAGTA	0.507																																																	0													179.0	160.0	167.0					1																	205892288		2203	4300	6503	SO:0001819	synonymous_variant	115019			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1695G>A	1.37:g.205892288C>T			A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.K565	ENST00000367135.3	37	c.1695	CCDS30990.1	1																																																																																			SLC26A9	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt		0.507	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	C	NM_052934		205892288	-1	no_errors	ENST00000340781	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC27A1	376497	genome.wustl.edu	37	19	17599875	17599875	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:17599875G>T	ENST00000252595.7	+	6	1042	c.945G>T	c.(943-945)aaG>aaT	p.K315N	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.K315N|SLC27A1_ENST00000598424.1_Missense_Mutation_p.K136N	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	315	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCCTCCGCAAGAAATTCTCGG	0.637																																																	0													67.0	66.0	67.0					19																	17599875		2203	4300	6503	SO:0001583	missense	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.945G>T	19.37:g.17599875G>T	ENSP00000252595:p.Lys315Asn		A6NIH2|B7Z662	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K315N	ENST00000252595.7	37	c.945	CCDS32953.1	19	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632614	0.67015	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.48201	0.82;0.82	4.25	3.12	0.35913	AMP-dependent synthetase/ligase (1);	0.283466	0.34507	N	0.003906	T	0.63117	0.2484	M	0.74881	2.28	0.58432	D	0.999995	D;D;D	0.63880	0.988;0.993;0.993	P;D;D	0.63597	0.904;0.916;0.916	T	0.67639	-0.5619	10	0.66056	D	0.02	.	11.1189	0.48277	0.0:0.1893:0.8106:0.0	.	136;315;315	B7Z662;Q6PCB7;B7Z3U1	.;S27A1_HUMAN;.	N	315;315;177	ENSP00000413424:K315N;ENSP00000252595:K315N	ENSP00000252595:K315N	K	+	3	2	SLC27A1	17460875	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.136000	0.64783	1.915000	0.55452	0.491000	0.48974	AAG	SLC27A1	-	pfam_AMP-dep_Synth/Lig		0.637	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A1	HGNC	protein_coding	OTTHUMT00000464145.1	G	NM_198580		17599875	+1	no_errors	ENST00000252595	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC2A12	154091	genome.wustl.edu	37	6	134350492	134350492	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:134350492C>A	ENST00000275230.5	-	2	626	c.471G>T	c.(469-471)gaG>gaT	p.E157D		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	157					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GAGGAGCAATCTCTGCGATGT	0.453																																					Melanoma(122;1663 1672 14489 35294 41228)												0													107.0	108.0	108.0					6																	134350492		2203	4300	6503	SO:0001583	missense	154091			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.471G>T	6.37:g.134350492C>A	ENSP00000275230:p.Glu157Asp		B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.E157D	ENST00000275230.5	37	c.471	CCDS5169.1	6	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388299	0.61956	.	.	ENSG00000146411	ENST00000275230	D	0.86497	-2.13	5.4	2.53	0.30540	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	H	0.96208	3.785	0.51482	D	0.999928	D	0.89917	1.0	D	0.97110	1.0	D	0.94006	0.7280	10	0.87932	D	0	-17.1885	10.7182	0.46026	0.0:0.7809:0.0:0.2191	.	157	Q8TD20	GTR12_HUMAN	D	157	ENSP00000275230:E157D	ENSP00000275230:E157D	E	-	3	2	SLC2A12	134392185	0.996000	0.38824	1.000000	0.80357	0.895000	0.52256	0.474000	0.22148	0.608000	0.30000	0.467000	0.42956	GAG	SLC2A12	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.453	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1	C			134350492	-1	no_errors	ENST00000275230	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC2A13	114134	genome.wustl.edu	37	12	40422238	40422238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:40422238G>A	ENST00000280871.4	-	3	840	c.790C>T	c.(790-792)Cga>Tga	p.R264*	SLC2A13_ENST00000380858.1_Nonsense_Mutation_p.R264*	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	264					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATAAGCCATCGAGGGCTTTCA	0.418										HNSCC(50;0.14)																																							0													97.0	100.0	99.0					12																	40422238		2203	4300	6503	SO:0001587	stop_gained	114134			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.790C>T	12.37:g.40422238G>A	ENSP00000280871:p.Arg264*		Q17S07	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.R264*	ENST00000280871.4	37	c.790	CCDS8736.2	12	.	.	.	.	.	.	.	.	.	.	G	40	8.030359	0.98619	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	.	.	.	5.54	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.182	15.1032	0.72299	0.0:0.0:0.7445:0.2555	.	.	.	.	X	264	.	ENSP00000280871:R264X	R	-	1	2	SLC2A13	38708505	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.304000	0.78882	1.436000	0.47453	0.591000	0.81541	CGA	SLC2A13	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.418	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A13	HGNC	protein_coding	OTTHUMT00000132849.2	G			40422238	-1	no_errors	ENST00000280871	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SLC30A3	7781	genome.wustl.edu	37	2	27480103	27480103	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:27480103G>A	ENST00000233535.4	-	5	1048	c.696C>T	c.(694-696)gtC>gtT	p.V232V	SLC30A3_ENST00000447008.2_Silent_p.V227V	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	232					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCCGCCCGGACGCTGGTGT	0.642																																																	0													49.0	48.0	48.0					2																	27480103		2203	4300	6503	SO:0001819	synonymous_variant	7781			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.696C>T	2.37:g.27480103G>A			Q8TC03	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.V232	ENST00000233535.4	37	c.696	CCDS1743.1	2																																																																																			SLC30A3	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.642	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	HGNC	protein_coding	OTTHUMT00000250189.2	G			27480103	-1	no_errors	ENST00000233535	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC30A6	55676	genome.wustl.edu	37	2	32399192	32399192	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:32399192T>C	ENST00000282587.5	+	3	188	c.151T>C	c.(151-153)Tgg>Cgg	p.W51R	SLC30A6_ENST00000435660.1_Missense_Mutation_p.W51R|SLC30A6_ENST00000379343.2_Missense_Mutation_p.W51R|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000538303.1_Missense_Mutation_p.W22R|SLC30A6_ENST00000406369.1_Intron	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	51					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCTGCTTATGTGGTGCAGTTC	0.313																																																	0													205.0	192.0	196.0					2																	32399192		2203	4300	6503	SO:0001583	missense	55676			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.151T>C	2.37:g.32399192T>C	ENSP00000282587:p.Trp51Arg		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.W51R	ENST00000282587.5	37	c.151	CCDS1780.1	2	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516717	0.64634	.	.	ENSG00000152683	ENST00000379343;ENST00000440718;ENST00000282587;ENST00000435660;ENST00000538303	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.25	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.69522	0.3120	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.69078	0.991;0.997;0.997;0.984	D;D;D;D	0.71656	0.94;0.954;0.974;0.959	T	0.67612	-0.5626	10	0.44086	T	0.13	-9.9034	11.453	0.50164	0.0:0.0:0.1512:0.8488	.	22;51;51;51	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	R	51;22;51;51;22	ENSP00000393946:W22R;ENSP00000282587:W51R;ENSP00000399005:W51R;ENSP00000440678:W22R	ENSP00000282587:W51R	W	+	1	0	SLC30A6	32252696	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.341000	0.72977	0.805000	0.34159	0.460000	0.39030	TGG	SLC30A6	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.313	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A6	HGNC	protein_coding	OTTHUMT00000250254.2	T			32399192	+1	no_errors	ENST00000282587	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC34A1	6569	genome.wustl.edu	37	5	176825089	176825089	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:176825089G>T	ENST00000324417.5	+	13	1813	c.1722G>T	c.(1720-1722)caG>caT	p.Q574H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	574					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AGTGGTTACAGACATGGGACT	0.652																																																	0													77.0	81.0	80.0					5																	176825089		2203	4300	6503	SO:0001583	missense	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1722G>T	5.37:g.176825089G>T	ENSP00000321424:p.Gln574His		B4DPE3	Missense_Mutation	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.Q574H	ENST00000324417.5	37	c.1722	CCDS4418.1	5	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754547	0.31046	.	.	ENSG00000131183	ENST00000324417	T	0.34275	1.37	5.34	2.54	0.30619	.	0.212459	0.42964	D	0.000634	T	0.46367	0.1389	L	0.51914	1.62	0.29090	N	0.882178	D	0.69078	0.997	D	0.66847	0.947	T	0.36601	-0.9741	10	0.72032	D	0.01	-20.0785	6.4441	0.21867	0.2124:0.1301:0.6575:0.0	.	574	Q06495	NPT2A_HUMAN	H	574	ENSP00000321424:Q574H	ENSP00000321424:Q574H	Q	+	3	2	SLC34A1	176757695	1.000000	0.71417	0.832000	0.32986	0.038000	0.13279	0.955000	0.29188	0.619000	0.30197	0.455000	0.32223	CAG	SLC34A1	-	tigrfam_Na/Pi_transpt		0.652	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	G	NM_003052		176825089	+1	no_errors	ENST00000324417	ensembl	human	known	70_37	missense	SNP	0.931	T
SLC35F1	222553	genome.wustl.edu	37	6	118635200	118635200	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:118635200C>A	ENST00000360388.4	+	8	1213	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	338					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTTTTCAGGACTTTATCTCCT	0.478																																																	0																																										SO:0001583	missense	222553			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1012C>A	6.37:g.118635200C>A	ENSP00000353557:p.Leu338Ile		E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	pfam_DUF914_euk,pfam_DMT	p.L338I	ENST00000360388.4	37	c.1012	CCDS34524.1	6	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665904	0.88251	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.80330	0.4603	M	0.78285	2.405	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.80226	-0.1470	9	0.54805	T	0.06	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	338	Q5T1Q4	S35F1_HUMAN	I	338	.	ENSP00000353557:L338I	L	+	1	0	SLC35F1	118741893	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.683000	0.74533	2.707000	0.92482	0.655000	0.94253	CTT	SLC35F1	-	pfam_DUF914_euk,pfam_DMT		0.478	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F1	HGNC	protein_coding	OTTHUMT00000041991.2	C	XM_167044		118635200	+1	no_errors	ENST00000360388	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC36A3	285641	genome.wustl.edu	37	5	150663650	150663650	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:150663650C>A	ENST00000335230.3	-	8	1340	c.929G>T	c.(928-930)gGg>gTg	p.G310V	SLC36A3_ENST00000377713.3_Missense_Mutation_p.G351V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	310						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGTCTGACCCAAACTTCAT	0.493																																																	0													184.0	162.0	170.0					5																	150663650		2203	4300	6503	SO:0001583	missense	285641			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.929G>T	5.37:g.150663650C>A	ENSP00000334750:p.Gly310Val		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.G351V	ENST00000335230.3	37	c.1052	CCDS4314.1	5	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762379	0.69763	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.07021	3.23;3.23	4.2	3.33	0.38152	.	0.051359	0.85682	D	0.000000	T	0.40791	0.1131	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.985;0.998;0.985	T	0.58662	-0.7597	10	0.87932	D	0	-20.7897	12.2439	0.54560	0.0:0.9174:0.0:0.0826	.	351;310;295	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	V	310;351	ENSP00000334750:G310V;ENSP00000366942:G351V	ENSP00000334750:G310V	G	-	2	0	SLC36A3	150643843	1.000000	0.71417	0.784000	0.31847	0.911000	0.54048	5.228000	0.65310	1.134000	0.42165	0.655000	0.94253	GGG	SLC36A3	-	pfam_AA_transpt_TM		0.493	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A3	HGNC	protein_coding	OTTHUMT00000252436.1	C	NM_181774		150663650	-1	no_errors	ENST00000377713	ensembl	human	known	70_37	missense	SNP	0.996	A
SLC37A4	2542	genome.wustl.edu	37	11	118898959	118898959	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:118898959A>C	ENST00000545985.1	-	4	1082	c.326T>G	c.(325-327)cTt>cGt	p.L109R	SLC37A4_ENST00000330775.7_Missense_Mutation_p.L109R|SLC37A4_ENST00000538950.1_Missense_Mutation_p.L36R|SLC37A4_ENST00000357590.5_Missense_Mutation_p.L109R|SLC37A4_ENST00000525102.1_5'UTR	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	109				L -> F (in Ref. 3; AAD19898). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CAGGCCATTAAGGAACCAGAG	0.582																																																	0													29.0	33.0	32.0					11																	118898959		1953	4144	6097	SO:0001583	missense	2542			Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.326T>G	11.37:g.118898959A>C	ENSP00000475241:p.Leu109Arg		O96016|Q5J7V4|Q9UI19|Q9UNS4	RNA	SNP	-	NULL	ENST00000545985.1	37	NULL		11																																																																																			SLC37A4	-	-		0.582	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	SLC37A4	HGNC	protein_coding		A	NM_001467		118898959	-1	no_errors	ENST00000330775	ensembl	human	known	70_37	rna	SNP	1.000	C
SLC38A1	81539	genome.wustl.edu	37	12	46600991	46600991	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:46600991T>G	ENST00000398637.5	-	8	1204	c.510A>C	c.(508-510)aaA>aaC	p.K170N	SLC38A1_ENST00000546893.1_Missense_Mutation_p.K170N|SLC38A1_ENST00000552197.1_Missense_Mutation_p.K170N|SLC38A1_ENST00000439706.1_Missense_Mutation_p.K170N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.K170N|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	170					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GTAGTTCATTTTTTACGATGA	0.313																																																	0													73.0	65.0	67.0					12																	46600991		1821	4080	5901	SO:0001583	missense	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.510A>C	12.37:g.46600991T>G	ENSP00000381634:p.Lys170Asn		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.K170N	ENST00000398637.5	37	c.510	CCDS41774.1	12	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914389	0.72983	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32	5.95	4.8	0.61643	.	0.072165	0.64402	D	0.000016	T	0.13798	0.0334	M	0.80616	2.505	0.41745	D	0.989638	P;D;D	0.61697	0.786;0.988;0.99	P;D;D	0.66979	0.566;0.914;0.948	T	0.00189	-1.1939	10	0.87932	D	0	-18.3391	10.8131	0.46559	0.0:0.0777:0.0:0.9223	.	170;170;170	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	N	170	ENSP00000449607:K170N;ENSP00000398142:K170N;ENSP00000381634:K170N;ENSP00000447853:K170N;ENSP00000449756:K170N	ENSP00000381634:K170N	K	-	3	2	SLC38A1	44887258	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.714000	0.37961	1.061000	0.40601	0.460000	0.39030	AAA	SLC38A1	-	pfam_AA_transpt_TM		0.313	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	T			46600991	-1	no_errors	ENST00000398637	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC38A5	92745	genome.wustl.edu	37	X	48318139	48318139	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48318139G>A	ENST00000376876.3	-	14	2035	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	SLC38A5_ENST00000376875.1_Missense_Mutation_p.R347W|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000317669.5_Missense_Mutation_p.R398W			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	398					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						AAGATATCCCGGATGGTTGGC	0.522																																																	0													120.0	97.0	105.0					X																	48318139		2203	4300	6503	SO:0001583	missense	92745			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1192C>T	X.37:g.48318139G>A	ENSP00000366073:p.Arg398Trp		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R398W	ENST00000376876.3	37	c.1192	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	g	15.53	2.860944	0.51482	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02280	4.36;4.36;4.36	5.31	4.45	0.53987	.	0.207694	0.41294	D	0.000903	T	0.08714	0.0216	M	0.68728	2.09	0.44816	D	0.997826	D	0.71674	0.998	P	0.61722	0.893	T	0.01228	-1.1412	10	0.87932	D	0	.	10.7863	0.46407	0.0949:0.0:0.9051:0.0	.	398	Q8WUX1	S38A5_HUMAN	W	398;347;398	ENSP00000366073:R398W;ENSP00000366071:R347W;ENSP00000313740:R398W	ENSP00000313740:R398W	R	-	1	2	SLC38A5	48203083	0.990000	0.36364	0.364000	0.25888	0.290000	0.27261	1.955000	0.40372	1.027000	0.39758	0.529000	0.55759	CGG	SLC38A5	-	pfam_AA_transpt_TM		0.522	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	HGNC	protein_coding	OTTHUMT00000060724.1	G	NM_033518		48318139	-1	no_errors	ENST00000317669	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC39A7	7922	genome.wustl.edu	37	6	33169685	33169685	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:33169685C>T	ENST00000374677.3	+	2	948	c.575C>T	c.(574-576)gCt>gTt	p.A192V	SLC39A7_ENST00000374675.3_Missense_Mutation_p.A192V|RXRB_ENST00000544186.1_5'Flank|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000374680.3_5'Flank|RNY4P10_ENST00000365571.1_RNA	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	192					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATTCCTCATGCTCTTGGTAAG	0.473																																																	0													157.0	174.0	168.0					6																	33169685		1309	2562	3871	SO:0001583	missense	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.575C>T	6.37:g.33169685C>T	ENSP00000363809:p.Ala192Val		B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	pfam_ZIP,prints_Kininogen	p.A192V	ENST00000374677.3	37	c.575	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883949	0.91814	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T;T	0.51325	0.71;0.71;0.71	4.88	4.88	0.63580	.	0.113281	0.64402	D	0.000018	T	0.52041	0.1710	M	0.62016	1.91	0.80722	D	1	P;D	0.57257	0.851;0.979	P;P	0.59825	0.581;0.864	T	0.44636	-0.9315	10	0.31617	T	0.26	-3.729	15.568	0.76309	0.0:1.0:0.0:0.0	.	173;192	B4DVK8;Q92504	.;S39A7_HUMAN	V	102;192;173;97;192	ENSP00000400978:A102V;ENSP00000363807:A192V;ENSP00000363809:A192V	ENSP00000363807:A192V	A	+	2	0	SLC39A7	33277663	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.824000	0.75288	2.543000	0.85770	0.549000	0.68633	GCT	SLC39A7	-	pfam_ZIP		0.473	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	C	NM_006979		33169685	+1	no_errors	ENST00000374675	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC46A2	57864	genome.wustl.edu	37	9	115652152	115652152	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:115652152A>G	ENST00000374228.4	-	1	1041	c.810T>C	c.(808-810)ccT>ccC	p.P270P		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	270					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CAGGAGATGGAGGGTGCCCCA	0.562																																																	0													111.0	107.0	109.0					9																	115652152		2203	4300	6503	SO:0001819	synonymous_variant	57864			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.810T>C	9.37:g.115652152A>G			B1ALK1|Q86VT0|Q96NE2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG	p.P270	ENST00000374228.4	37	c.810	CCDS6786.1	9																																																																																			SLC46A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.562	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	HGNC	protein_coding	OTTHUMT00000053702.1	A	NM_033051		115652152	-1	no_errors	ENST00000374228	ensembl	human	known	70_37	silent	SNP	0.000	G
SLC46A3	283537	genome.wustl.edu	37	13	29287142	29287142	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:29287142A>C	ENST00000266943.6	-	3	1104	c.735T>G	c.(733-735)acT>acG	p.T245T	SLC46A3_ENST00000380814.4_Silent_p.T245T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	245					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGCATGTAAGTTCGGTAAA	0.333																																																	0													42.0	42.0	42.0					13																	29287142		2203	4298	6501	SO:0001819	synonymous_variant	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.735T>G	13.37:g.29287142A>C			Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T245	ENST00000266943.6	37	c.735	CCDS9332.1	13																																																																																			SLC46A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.333	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	A	NM_181785		29287142	-1	no_errors	ENST00000266943	ensembl	human	known	70_37	silent	SNP	0.997	C
SLC46A3	283537	genome.wustl.edu	37	13	29292084	29292084	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:29292084T>C	ENST00000266943.6	-	2	421	c.52A>G	c.(52-54)Act>Gct	p.T18A	SLC46A3_ENST00000380814.4_Missense_Mutation_p.T18A	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	18					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CCGGTCAAAGTCATAGCAAAT	0.378																																																	0													122.0	122.0	122.0					13																	29292084		2203	4300	6503	SO:0001583	missense	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.52A>G	13.37:g.29292084T>C	ENSP00000266943:p.Thr18Ala		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T18A	ENST00000266943.6	37	c.52	CCDS9332.1	13	.	.	.	.	.	.	.	.	.	.	T	3.099	-0.185273	0.06340	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.56275	0.47;0.47	5.55	-2.3	0.06785	.	0.425083	0.27831	N	0.017663	T	0.28995	0.0720	L	0.31294	0.92	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.12156	0.004;0.007	T	0.12941	-1.0528	10	0.14252	T	0.57	-8.1147	4.9107	0.13820	0.4525:0.1714:0.0:0.3761	.	18;18	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	A	18	ENSP00000266943:T18A;ENSP00000370192:T18A	ENSP00000266943:T18A	T	-	1	0	SLC46A3	28190084	0.001000	0.12720	0.005000	0.12908	0.074000	0.17049	0.726000	0.25984	0.041000	0.15688	-0.366000	0.07423	ACT	SLC46A3	-	pfam_MFS		0.378	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	T	NM_181785		29292084	-1	no_errors	ENST00000266943	ensembl	human	known	70_37	missense	SNP	0.000	C
SLC4A10	57282	genome.wustl.edu	37	2	162696379	162696379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:162696379G>T	ENST00000446997.1	+	4	451	c.358G>T	c.(358-360)Gaa>Taa	p.E120*	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.E120*|SLC4A10_ENST00000535165.1_Nonsense_Mutation_p.E120*|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.E120*|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.E120*|SLC4A10_ENST00000375514.5_Nonsense_Mutation_p.E131*	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	120					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CCTTTTCACAGAACTGGATGA	0.438																																																	0													141.0	142.0	142.0					2																	162696379		2121	4255	6376	SO:0001587	stop_gained	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.358G>T	2.37:g.162696379G>T	ENSP00000393066:p.Glu120*		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Nonsense_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.E120*	ENST00000446997.1	37	c.358	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577448	0.86645	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.616	0.95634	0.0:0.0:1.0:0.0	.	.	.	.	X	131;120;120;120;120;120;120;120	.	ENSP00000272716:E120X	E	+	1	0	SLC4A10	162404625	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.706000	0.98722	2.646000	0.89796	0.650000	0.86243	GAA	SLC4A10	-	superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk		0.438	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	G	NM_022058		162696379	+1	no_errors	ENST00000446997	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SLC4A4	8671	genome.wustl.edu	37	4	72102354	72102354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:72102354G>T	ENST00000264485.5	+	2	178	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.E21*|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.E21*	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	21					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)	GTGTGATGAAGAAGAAGTAGA	0.378																																																	0													111.0	116.0	114.0					4																	72102354		1887	4116	6003	SO:0001587	stop_gained	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.61G>T	4.37:g.72102354G>T	ENSP00000264485:p.Glu21*		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Nonsense_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.E21*	ENST00000264485.5	37	c.61	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.465011	0.97590	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898	.	.	.	5.82	5.82	0.92795	.	0.092569	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.1001	0.97870	0.0:0.0:1.0:0.0	.	.	.	.	X	21	.	ENSP00000264485:E21X	E	+	1	0	SLC4A4	72321218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.631000	0.98424	2.760000	0.94817	0.655000	0.94253	GAA	SLC4A4	-	NULL		0.378	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	G	NM_003759		72102354	+1	no_errors	ENST00000425175	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SLC5A2	6524	genome.wustl.edu	37	16	31500280	31500280	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:31500280G>A	ENST00000330498.3	+	11	1379	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	454					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCAGCTCTTCGATTACATCCA	0.662																																																	0													50.0	46.0	48.0					16																	31500280		2197	4299	6496	SO:0001583	missense	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1360G>A	16.37:g.31500280G>A	ENSP00000327943:p.Asp454Asn		A2RRD2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.D454N	ENST00000330498.3	37	c.1360	CCDS10714.1	16	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762546	0.89932	.	.	ENSG00000140675	ENST00000330498	D	0.88046	-2.33	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.89451	0.6719	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85670	0.1294	10	0.15952	T	0.53	.	15.5974	0.76595	0.0:0.0:1.0:0.0	.	454	P31639	SC5A2_HUMAN	N	454	ENSP00000327943:D454N	ENSP00000327943:D454N	D	+	1	0	SLC5A2	31407781	0.999000	0.42202	0.939000	0.37840	0.948000	0.59901	4.702000	0.61817	2.549000	0.85964	0.561000	0.74099	GAT	SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.662	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	G			31500280	+1	no_errors	ENST00000330498	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC5A8	160728	genome.wustl.edu	37	12	101551157	101551157	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:101551157T>G	ENST00000536262.2	-	15	2291	c.1733A>C	c.(1732-1734)aAa>aCa	p.K578T		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGATGTGATTTATAGCTCAA	0.368																																					GBM(60;420 1056 13605 22380 47675)												0													108.0	92.0	97.0					12																	101551157		2202	4300	6502	SO:0001583	missense	160728			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1733A>C	12.37:g.101551157T>G	ENSP00000445340:p.Lys578Thr			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.K578T	ENST00000536262.2	37	c.1733	CCDS9080.1	12	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447843	0.26074	.	.	ENSG00000256870	ENST00000536262	D	0.86164	-2.08	5.15	5.15	0.70609	.	0.335696	0.30781	N	0.008886	D	0.83031	0.5166	M	0.64997	1.995	0.27859	N	0.940479	B	0.29341	0.242	B	0.24701	0.055	T	0.71451	-0.4589	10	0.14252	T	0.57	.	12.806	0.57614	0.0:0.0:0.0:1.0	.	578	Q8N695	SC5A8_HUMAN	T	578	ENSP00000445340:K578T	ENSP00000445340:K578T	K	-	2	0	SLC5A8	100075288	1.000000	0.71417	0.903000	0.35520	0.064000	0.16182	3.486000	0.53215	2.081000	0.62600	0.533000	0.62120	AAA	SLC5A8	-	NULL		0.368	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	HGNC	protein_coding	OTTHUMT00000409401.1	T	NM_145913		101551157	-1	no_errors	ENST00000536262	ensembl	human	known	70_37	missense	SNP	0.474	G
SLC6A11	6538	genome.wustl.edu	37	3	10960013	10960013	+	Splice_Site	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:10960013G>A	ENST00000254488.2	+	8	1061		c.e8-1			NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11						brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CTTCCCCACAGGGACTGCATC	0.607																																																	0													111.0	88.0	96.0					3																	10960013		2203	4300	6503	SO:0001630	splice_region_variant	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.996-1G>A	3.37:g.10960013G>A			B2R6U6|Q8IYC9	Splice_Site	SNP	-	e8-1	ENST00000254488.2	37	c.996-1	CCDS2602.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088276	0.76756	.	.	ENSG00000132164	ENST00000254488	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7388	0.85454	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A11	10935013	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	9.446000	0.97590	2.115000	0.64714	0.484000	0.47621	.	SLC6A11	-	-		0.607	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	G	NM_014229	Intron	10960013	+1	no_errors	ENST00000254488	ensembl	human	known	70_37	splice_site	SNP	1.000	A
SLC6A13	6540	genome.wustl.edu	37	12	333602	333602	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:333602A>C	ENST00000343164.4	-	10	1190	c.1138T>G	c.(1138-1140)Ttc>Gtc	p.F380V	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Missense_Mutation_p.F288V	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	380					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACCATGAAGAAGAAACAGCAG	0.597																																																	0													137.0	122.0	127.0					12																	333602		2203	4300	6503	SO:0001583	missense	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1138T>G	12.37:g.333602A>C	ENSP00000339260:p.Phe380Val		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.F380V	ENST00000343164.4	37	c.1138	CCDS8502.1	12	.	.	.	.	.	.	.	.	.	.	A	29.8	5.036273	0.93630	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	D;D	0.88509	-2.39;-2.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	H	0.99286	4.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	D	0.98905	1.0778	10	0.87932	D	0	.	15.8025	0.78463	1.0:0.0:0.0:0.0	.	288;359;380	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	V	288;359;380	ENSP00000407104:F288V;ENSP00000339260:F380V	ENSP00000318097:F359V	F	-	1	0	SLC6A13	203863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.138000	0.66242	0.368000	0.22195	TTC	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.597	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	A	NM_016615		333602	-1	no_errors	ENST00000343164	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC6A18	348932	genome.wustl.edu	37	5	1244730	1244730	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:1244730G>A	ENST00000324642.3	+	11	1627	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	502					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGGTTCTGCGATGACATTGC	0.617																																																	0													54.0	55.0	55.0					5																	1244730		2202	4300	6502	SO:0001583	missense	348932			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1504G>A	5.37:g.1244730G>A	ENSP00000323549:p.Asp502Asn			Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.D502N	ENST00000324642.3	37	c.1504	CCDS3860.1	5	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816235	0.70912	.	.	ENSG00000164363	ENST00000324642	T	0.74737	-0.87	4.16	4.16	0.48862	.	0.392427	0.25307	N	0.031608	T	0.77491	0.4138	L	0.46947	1.48	0.80722	D	1	D	0.76494	0.999	D	0.63192	0.912	T	0.74827	-0.3532	10	0.33141	T	0.24	.	9.493	0.38971	0.1037:0.0:0.8963:0.0	.	502	Q96N87	S6A18_HUMAN	N	502	ENSP00000323549:D502N	ENSP00000323549:D502N	D	+	1	0	SLC6A18	1297730	0.998000	0.40836	0.055000	0.19348	0.037000	0.13140	2.622000	0.46427	1.875000	0.54330	0.561000	0.74099	GAT	SLC6A18	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.617	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	HGNC	protein_coding	OTTHUMT00000206728.3	G	NM_182632		1244730	+1	no_errors	ENST00000324642	ensembl	human	known	70_37	missense	SNP	0.922	A
SLC6A8	6535	genome.wustl.edu	37	X	152959018	152959018	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:152959018A>C	ENST00000253122.5	+	7	1594	c.1118A>C	c.(1117-1119)cAc>cCc	p.H373P	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Missense_Mutation_p.H258P	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	373					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CAGGGCGTGCACATCTCCAAG	0.587																																																	0													80.0	65.0	70.0					X																	152959018		2203	4300	6503	SO:0001583	missense	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1118A>C	X.37:g.152959018A>C	ENSP00000253122:p.His373Pro		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine	p.H373P	ENST00000253122.5	37	c.1118	CCDS14726.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	2.969|2.969	-0.212982|-0.212982	0.06140|0.06140	.|.	.|.	ENSG00000130821|ENSG00000130821	ENST00000253122;ENST00000430077;ENST00000328897|ENST00000442457	T;T|.	0.73152|.	-0.72;-0.72|.	5.48|5.48	4.28|4.28	0.50868|0.50868	.|.	0.130932|.	0.47852|.	N|.	0.000217|.	T|T	0.06872|0.06872	0.0175|0.0175	N|N	0.00104|0.00104	-2.125|-2.125	0.28091|0.28091	N|N	0.9318|0.9318	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.25117|0.25117	-1.0141|-1.0141	10|5	0.02654|.	T|.	1|.	.|.	10.7513|10.7513	0.46211|0.46211	0.8424:0.1576:0.0:0.0|0.8424:0.1576:0.0:0.0	.|.	382;373|.	Q59EV7;P48029|.	.;SC6A8_HUMAN|.	P|P	373;258;379|58	ENSP00000253122:H373P;ENSP00000403041:H258P|.	ENSP00000253122:H373P|.	H|T	+|+	2|1	0|0	SLC6A8|SLC6A8	152612212|152612212	0.628000|0.628000	0.27138|0.27138	0.996000|0.996000	0.52242|0.52242	0.993000|0.993000	0.82548|0.82548	1.185000|1.185000	0.32065|0.32065	0.688000|0.688000	0.31529|0.31529	0.430000|0.430000	0.28490|0.28490	CAC|ACA	SLC6A8	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.587	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	A			152959018	+1	no_errors	ENST00000253122	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC7A1	6541	genome.wustl.edu	37	13	30110018	30110018	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:30110018A>G	ENST00000380752.5	-	3	694	c.308T>C	c.(307-309)gTc>gCc	p.V103A		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	103					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCCAACGGTGACATAGCTGTA	0.602																																																	0													65.0	60.0	62.0					13																	30110018		2203	4300	6503	SO:0001583	missense	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.308T>C	13.37:g.30110018A>G	ENSP00000370128:p.Val103Ala		Q5JR50	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.V103A	ENST00000380752.5	37	c.308	CCDS9333.1	13	.	.	.	.	.	.	.	.	.	.	A	24.7	4.559178	0.86335	.	.	ENSG00000139514	ENST00000380752;ENST00000450494	D;D	0.88664	-2.41;-2.41	4.81	4.81	0.61882	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.92254	0.7543	L	0.52266	1.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93025	0.6443	10	0.87932	D	0	.	13.6926	0.62556	1.0:0.0:0.0:0.0	.	103	P30825	CTR1_HUMAN	A	103	ENSP00000370128:V103A;ENSP00000390092:V103A	ENSP00000370128:V103A	V	-	2	0	SLC7A1	29008018	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	8.966000	0.93397	2.015000	0.59207	0.533000	0.62120	GTC	SLC7A1	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease		0.602	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A1	HGNC	protein_coding	OTTHUMT00000044337.2	A	NM_003045		30110018	-1	no_errors	ENST00000380752	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC7A14	57709	genome.wustl.edu	37	3	170185087	170185087	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:170185087C>A	ENST00000231706.5	-	8	2387	c.2072G>T	c.(2071-2073)aGc>aTc	p.S691I	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	691					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TTGGTACGTGCTTTGGTGCAG	0.587																																																	0													61.0	64.0	63.0					3																	170185087		2203	4300	6503	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.2072G>T	3.37:g.170185087C>A	ENSP00000231706:p.Ser691Ile		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease_dom	p.S691I	ENST00000231706.5	37	c.2072	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318453	0.81469	.	.	ENSG00000013293	ENST00000231706	D	0.88124	-2.34	5.69	5.69	0.88448	.	0.082659	0.85682	D	0.000000	D	0.89914	0.6853	L	0.27053	0.805	0.54753	D	0.999989	D	0.65815	0.995	D	0.72982	0.979	D	0.90212	0.4265	10	0.52906	T	0.07	.	19.8124	0.96553	0.0:1.0:0.0:0.0	.	691	Q8TBB6	S7A14_HUMAN	I	691	ENSP00000231706:S691I	ENSP00000231706:S691I	S	-	2	0	SLC7A14	171667781	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.568000	0.60857	2.701000	0.92244	0.655000	0.94253	AGC	SLC7A14	-	NULL		0.587	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	C	NM_020949		170185087	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC9A4	389015	genome.wustl.edu	37	2	103090436	103090436	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:103090436T>G	ENST00000295269.4	+	1	675	c.218T>G	c.(217-219)gTc>gGc	p.V73G		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	73					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTATGAGGTCACTCTCTGG	0.398																																																	0													116.0	112.0	113.0					2																	103090436		2203	4300	6503	SO:0001583	missense	389015				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.218T>G	2.37:g.103090436T>G	ENSP00000295269:p.Val73Gly		Q69YK0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.V73G	ENST00000295269.4	37	c.218	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732234	0.89482	.	.	ENSG00000180251	ENST00000295269	T	0.71103	-0.54	6.04	6.04	0.98038	Cation/H+ exchanger (1);	0.173853	0.51477	D	0.000099	T	0.75939	0.3918	L	0.54323	1.7	0.80722	D	1	P	0.51791	0.948	P	0.51297	0.665	T	0.78612	-0.2136	10	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	73	Q6AI14	SL9A4_HUMAN	G	73	ENSP00000295269:V73G	ENSP00000295269:V73G	V	+	2	0	SLC9A4	102456868	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.295000	0.78780	2.317000	0.78254	0.460000	0.39030	GTC	SLC9A4	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.398	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	T	NM_001011552.3		103090436	+1	no_errors	ENST00000295269	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC9A7	84679	genome.wustl.edu	37	X	46466593	46466593	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:46466593C>T	ENST00000328306.4	-	17	1997	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	658					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AGGTCGCCTTCGGTCAGGATG	0.517																																					Pancreas(118;454 1696 1930 13865 39976)												0													57.0	42.0	47.0					X																	46466593		2203	4300	6503	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1972G>A	X.37:g.46466593C>T	ENSP00000330320:p.Glu658Lys		O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.E658K	ENST00000328306.4	37	c.1972	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250408	0.59212	.	.	ENSG00000065923	ENST00000328306	T	0.35236	1.32	5.1	5.1	0.69264	.	0.049759	0.85682	D	0.000000	T	0.27798	0.0684	L	0.40543	1.245	0.54753	D	0.99998	P	0.39883	0.693	B	0.29942	0.109	T	0.06320	-1.0833	10	0.23891	T	0.37	.	17.7099	0.88319	0.0:1.0:0.0:0.0	.	658	Q96T83	SL9A7_HUMAN	K	658	ENSP00000330320:E658K	ENSP00000330320:E658K	E	-	1	0	SLC9A7	46351537	1.000000	0.71417	0.887000	0.34795	0.460000	0.32559	7.184000	0.77705	2.368000	0.80403	0.590000	0.80494	GAA	SLC9A7	-	NULL		0.517	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1	C	NM_032591		46466593	-1	no_errors	ENST00000328306	ensembl	human	known	70_37	missense	SNP	0.998	T
SLC9C2	284525	genome.wustl.edu	37	1	173506145	173506145	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:173506145G>T	ENST00000367714.3	-	14	2013	c.1591C>A	c.(1591-1593)Ctt>Att	p.L531I	SLC9C2_ENST00000536496.1_Missense_Mutation_p.L429I|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	531					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCTATTTCAAGAATTCCATTG	0.313																																																	0													135.0	138.0	137.0					1																	173506145		2203	4299	6502	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1591C>A	1.37:g.173506145G>T	ENSP00000356687:p.Leu531Ile		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.L531I	ENST00000367714.3	37	c.1591	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255959	0.39896	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.23950	1.88;1.88	5.52	4.59	0.56863	.	0.125201	0.36234	N	0.002712	T	0.10208	0.0250	M	0.64997	1.995	0.23089	N	0.998315	P	0.38535	0.635	B	0.32805	0.153	T	0.11131	-1.0600	10	0.23302	T	0.38	-19.5419	11.5146	0.50513	0.0:0.0:0.8206:0.1794	.	531	Q5TAH2	S9A11_HUMAN	I	531;429	ENSP00000356687:L531I;ENSP00000445437:L429I	ENSP00000356687:L531I	L	-	1	0	SLC9A11	171772768	0.997000	0.39634	0.235000	0.24058	0.751000	0.42716	3.102000	0.50291	1.285000	0.44548	0.508000	0.49915	CTT	SLC9C2	-	NULL		0.313	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	G	NM_178527		173506145	-1	no_errors	ENST00000367714	ensembl	human	known	70_37	missense	SNP	0.895	T
SLC9C2	284525	genome.wustl.edu	37	1	173517585	173517585	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:173517585A>C	ENST00000367714.3	-	12	1826	c.1404T>G	c.(1402-1404)atT>atG	p.I468M	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I366M|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	468					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CATTTGTCAAAATTTTTTCTG	0.363																																																	0													127.0	128.0	127.0					1																	173517585		2203	4300	6503	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1404T>G	1.37:g.173517585A>C	ENSP00000356687:p.Ile468Met		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.I468M	ENST00000367714.3	37	c.1404	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220452	0.39201	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.25912	1.77;1.77	4.53	-1.21	0.09524	.	0.694155	0.12806	N	0.437607	T	0.06917	0.0176	L	0.44542	1.39	0.21147	N	0.999775	P	0.45902	0.868	B	0.43052	0.406	T	0.14952	-1.0454	10	0.34782	T	0.22	-6.9995	1.9545	0.03373	0.4369:0.3176:0.0919:0.1536	.	468	Q5TAH2	S9A11_HUMAN	M	468;366	ENSP00000356687:I468M;ENSP00000445437:I366M	ENSP00000356687:I468M	I	-	3	3	SLC9A11	171784208	0.999000	0.42202	0.835000	0.33067	0.781000	0.44180	0.338000	0.19858	-0.440000	0.07211	0.332000	0.21555	ATT	SLC9C2	-	NULL		0.363	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	A	NM_178527		173517585	-1	no_errors	ENST00000367714	ensembl	human	known	70_37	missense	SNP	0.988	C
SLCO1B3	28234	genome.wustl.edu	37	12	21028281	21028281	+	Silent	SNP	G	G	A	rs555631927		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:21028281G>A	ENST00000381545.3	+	9	1059	c.840G>A	c.(838-840)ccG>ccA	p.P280P	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Silent_p.P280P|LST3_ENST00000540229.1_Silent_p.P280P|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Silent_p.P280P	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	280					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.P280P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTTTCTTGCCGAAAAATCCAA	0.358													.|||	1	0.000199681	0.0	0.0	5008	,	,		16452	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	lung(1)											115.0	112.0	113.0					12																	21028281		2203	4300	6503	SO:0001819	synonymous_variant	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.840G>A	12.37:g.21028281G>A			E7EMT8|Q5JAR4	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.P280	ENST00000381545.3	37	c.840	CCDS8684.1	12																																																																																			SLCO1B3	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.358	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	G	NM_019844		21028281	+1	no_errors	ENST00000553473	ensembl	human	known	70_37	silent	SNP	0.016	A
SLCO1B7	338821	genome.wustl.edu	37	12	21168708	21168708	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:21168708G>A	ENST00000421593.2	+	1	79	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E27K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGGAAGCTTCGAAATAGGTAG	0.308																																																	1	Substitution - Missense(1)	skin(1)											75.0	75.0	75.0					12																	21168708		2144	4285	6429	SO:0001583	missense	338821			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.79G>A	12.37:g.21168708G>A	ENSP00000394168:p.Glu27Lys		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.E27K	ENST00000421593.2	37	c.79	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	14.97	2.693658	0.48202	.	.	ENSG00000205754	ENST00000421593	T	0.52295	0.67	2.68	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81623	-0.0849	10	0.87932	D	0	.	12.7175	0.57123	0.0:0.0:1.0:0.0	.	27	G3V0H7	.	K	27	ENSP00000394168:E27K	ENSP00000394168:E27K	E	+	1	0	SLCO1B7	21059975	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	8.346000	0.90060	1.476000	0.48215	0.407000	0.27541	GAA	SLCO1B7	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.308	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	G	NM_001009562		21168708	+1	no_errors	ENST00000421593	ensembl	human	known	70_37	missense	SNP	1.000	A
SLCO4A1	28231	genome.wustl.edu	37	20	61299485	61299485	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:61299485T>C	ENST00000370507.1	+	8	1856	c.1760T>C	c.(1759-1761)gTa>gCa	p.V587A	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.V587A|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	587					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ATATTCGTTGTAATTTTCTTT	0.493											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)												0													154.0	151.0	152.0					20																	61299485		2203	4300	6503	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1760T>C	20.37:g.61299485T>C	ENSP00000359538:p.Val587Ala	1052	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.V587A	ENST00000370507.1	37	c.1760	CCDS13501.1	20	.	.	.	.	.	.	.	.	.	.	T	13.76	2.334714	0.41297	.	.	ENSG00000101187	ENST00000217159;ENST00000370507;ENST00000342674	T;T	0.58060	0.36;0.36	4.94	3.84	0.44239	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	4.266460	0.01611	N	0.022521	T	0.44850	0.1313	L	0.28400	0.85	0.39137	D	0.96196	B	0.09022	0.002	B	0.10450	0.005	T	0.14008	-1.0488	10	0.21540	T	0.41	.	9.9573	0.41675	0.0:0.0808:0.0:0.9192	.	587	Q96BD0	SO4A1_HUMAN	A	587;587;439	ENSP00000217159:V587A;ENSP00000359538:V587A	ENSP00000217159:V587A	V	+	2	0	SLCO4A1	60769930	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.325000	0.65869	1.840000	0.53500	0.402000	0.26972	GTA	SLCO4A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.493	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2	T	NM_016354		61299485	+1	no_errors	ENST00000217159	ensembl	human	known	70_37	missense	SNP	1.000	C
SLCO5A1	81796	genome.wustl.edu	37	8	70617305	70617305	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:70617305C>G	ENST00000260126.4	-	6	2289	c.1583G>C	c.(1582-1584)aGc>aCc	p.S528T	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.S528T|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.S473T	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	528						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAGATTAATGCTTTCACATCC	0.428																																																	0													131.0	121.0	125.0					8																	70617305		2203	4300	6503	SO:0001583	missense	81796			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1583G>C	8.37:g.70617305C>G	ENSP00000260126:p.Ser528Thr		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S528T	ENST00000260126.4	37	c.1583	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546371	0.86022	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.39056	1.1;1.1;1.1	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	N	0.10664	0.02	0.58432	D	0.999999	P;P;P;P	0.48162	0.906;0.509;0.56;0.708	P;P;B;B	0.52646	0.705;0.451;0.277;0.332	T	0.17684	-1.0361	10	0.21014	T	0.42	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	473;473;528;528	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	T	528;528;473	ENSP00000260126:S528T;ENSP00000434422:S528T;ENSP00000431611:S473T	ENSP00000260126:S528T	S	-	2	0	SLCO5A1	70779859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.768000	0.95171	0.655000	0.94253	AGC	SLCO5A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.428	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3	C	NM_030958		70617305	-1	no_errors	ENST00000260126	ensembl	human	known	70_37	missense	SNP	1.000	G
SLFN11	91607	genome.wustl.edu	37	17	33680989	33680989	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:33680989G>T	ENST00000394566.1	-	6	1560	c.1288C>A	c.(1288-1290)Caa>Aaa	p.Q430K	SLFN11_ENST00000308377.4_Missense_Mutation_p.Q430K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	430					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTTGCATTTGCTTATTTATT	0.463																																																	0													88.0	90.0	89.0					17																	33680989		2203	4300	6503	SO:0001583	missense	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1288C>A	17.37:g.33680989G>T	ENSP00000378067:p.Gln430Lys		E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.Q430K	ENST00000394566.1	37	c.1288	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508141	0.27036	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.02015	4.5;4.5	3.54	-4.16	0.03869	.	0.718348	0.11949	N	0.513920	T	0.03477	0.0100	M	0.78801	2.425	0.09310	N	1	P	0.40578	0.722	B	0.30316	0.114	T	0.23726	-1.0180	10	0.72032	D	0.01	.	15.8098	0.78552	0.0:0.784:0.216:0.0	.	430	Q7Z7L1	SLN11_HUMAN	K	430	ENSP00000312402:Q430K;ENSP00000378067:Q430K	ENSP00000312402:Q430K	Q	-	1	0	SLFN11	30705102	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.473000	0.06615	-0.413000	0.07507	0.650000	0.86243	CAA	SLFN11	-	NULL		0.463	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	G	NM_152270		33680989	-1	no_errors	ENST00000308377	ensembl	human	known	70_37	missense	SNP	0.000	T
SLFN11	91607	genome.wustl.edu	37	17	33690272	33690272	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:33690272T>C	ENST00000394566.1	-	4	827	c.555A>G	c.(553-555)ccA>ccG	p.P185P	SLFN11_ENST00000308377.4_Silent_p.P185P	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	185					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATCCGAGTTTGGGTCAGCAG	0.413																																																	0													122.0	125.0	124.0					17																	33690272		2203	4300	6503	SO:0001819	synonymous_variant	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.555A>G	17.37:g.33690272T>C			E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.P185	ENST00000394566.1	37	c.555	CCDS11294.1	17																																																																																			SLFN11	-	NULL		0.413	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	T	NM_152270		33690272	-1	no_errors	ENST00000308377	ensembl	human	known	70_37	silent	SNP	0.000	C
SLFN12	55106	genome.wustl.edu	37	17	33738406	33738406	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:33738406A>C	ENST00000394562.1	-	6	2211	c.1688T>G	c.(1687-1689)tTt>tGt	p.F563C	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Missense_Mutation_p.F563C|SLFN12_ENST00000304905.5_Missense_Mutation_p.F563C|RP11-686D22.8_ENST00000587012.1_RNA			Q8IYM2	SLN12_HUMAN	schlafen family member 12	563							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTCTTCTGAAAGCAATCTAT	0.348																																																	0													52.0	57.0	55.0					17																	33738406		2203	4300	6503	SO:0001583	missense	55106			AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1688T>G	17.37:g.33738406A>C	ENSP00000378063:p.Phe563Cys		A8K711|Q9NP47	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.F563C	ENST00000394562.1	37	c.1688	CCDS11295.1	17	.	.	.	.	.	.	.	.	.	.	A	12.32	1.903220	0.33628	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.04360	3.64;3.64;3.64	2.92	-2.23	0.06930	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	D	0.53745	0.962	P	0.48189	0.57	T	0.46133	-0.9213	9	0.30854	T	0.27	.	7.5976	0.28056	0.4302:0.0:0.5698:0.0	.	563	Q8IYM2	SLN12_HUMAN	C	563	ENSP00000378063:F563C;ENSP00000302077:F563C;ENSP00000394903:F563C	ENSP00000302077:F563C	F	-	2	0	SLFN12	30762519	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.387000	0.07361	-0.409000	0.07553	-0.495000	0.04643	TTT	SLFN12	-	NULL		0.348	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFN12	HGNC	protein_coding	OTTHUMT00000256491.1	A	NM_018042		33738406	-1	no_errors	ENST00000304905	ensembl	human	known	70_37	missense	SNP	0.000	C
SLFN5	162394	genome.wustl.edu	37	17	33592569	33592569	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:33592569C>A	ENST00000299977.4	+	5	2486	c.2338C>A	c.(2338-2340)Ctc>Atc	p.L780I	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	780					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATGCCGTTTTCTCTTGCGGAA	0.408																																																	0													135.0	132.0	133.0					17																	33592569		2203	4300	6503	SO:0001583	missense	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2338C>A	17.37:g.33592569C>A	ENSP00000299977:p.Leu780Ile		Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.L780I	ENST00000299977.4	37	c.2338	CCDS32619.1	17	.	.	.	.	.	.	.	.	.	.	c	12.99	2.104829	0.37145	.	.	ENSG00000166750	ENST00000299977	D	0.85258	-1.96	3.14	1.04	0.20106	.	0.275021	0.19381	N	0.115649	T	0.79197	0.4405	M	0.70595	2.14	0.09310	N	0.999998	P	0.46784	0.884	B	0.38056	0.264	T	0.70699	-0.4800	10	0.54805	T	0.06	.	5.4931	0.16787	0.0:0.7222:0.0:0.2778	.	780	Q08AF3	SLFN5_HUMAN	I	780	ENSP00000299977:L780I	ENSP00000299977:L780I	L	+	1	0	SLFN5	30616682	0.003000	0.15002	0.020000	0.16555	0.013000	0.08279	0.423000	0.21313	0.174000	0.19809	-0.150000	0.13652	CTC	SLFN5	-	NULL		0.408	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2	C	NM_144975		33592569	+1	no_errors	ENST00000299977	ensembl	human	known	70_37	missense	SNP	0.018	A
SLFN14	342618	genome.wustl.edu	37	17	33884325	33884325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:33884325C>A	ENST00000415846.3	-	1	792	c.757G>T	c.(757-759)Gaa>Taa	p.E253*	RP11-1094M14.12_ENST00000588445.1_RNA	NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	253							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						CCAACCACTTCTTTGCTCTTA	0.403																																																	0													134.0	102.0	112.0					17																	33884325		692	1591	2283	SO:0001587	stop_gained	342618				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.757G>T	17.37:g.33884325C>A	ENSP00000391101:p.Glu253*		B2RTW9	Nonsense_Mutation	SNP	pfam_ATPase_AAA-4	p.E253*	ENST00000415846.3	37	c.757	CCDS45650.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.562221	0.96527	.	.	ENSG00000236320	ENST00000415846	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-13.9871	13.1608	0.59542	0.0:1.0:0.0:0.0	.	.	.	.	X	253	.	ENSP00000391101:E253X	E	-	1	0	SLFN14	30908438	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.277000	0.43417	2.561000	0.86390	0.655000	0.94253	GAA	SLFN14	-	pfam_ATPase_AAA-4		0.403	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN14	HGNC	protein_coding	OTTHUMT00000448928.1	C	NM_001129820		33884325	-1	no_errors	ENST00000415846	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SLIT3	6586	genome.wustl.edu	37	5	168114012	168114012	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:168114012A>C	ENST00000519560.1	-	30	3705	c.3286T>G	c.(3286-3288)Tac>Gac	p.Y1096D	SLIT3_ENST00000332966.8_Missense_Mutation_p.Y1103D|SLIT3_ENST00000404867.3_Missense_Mutation_p.Y1096D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1096	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			GTGCATGTGTAGCCATTGATT	0.627																																					Ovarian(29;311 847 10864 17279 24903)												0													77.0	70.0	73.0					5																	168114012		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.3286T>G	5.37:g.168114012A>C	ENSP00000430333:p.Tyr1096Asp		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.Y1096D	ENST00000519560.1	37	c.3286	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	A	13.15	2.152696	0.38021	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.95724	-3.79;-3.79;-3.79	4.59	3.4	0.38934	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	H	0.98111	4.15	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.97749	1.0213	10	0.87932	D	0	.	9.9623	0.41704	0.848:0.0:0.0:0.152	.	1096	O75094	SLIT3_HUMAN	D	1096;1103;1096	ENSP00000430333:Y1096D;ENSP00000332164:Y1103D;ENSP00000384890:Y1096D	ENSP00000332164:Y1103D	Y	-	1	0	SLIT3	168046590	1.000000	0.71417	0.999000	0.59377	0.082000	0.17680	9.310000	0.96267	0.692000	0.31613	-0.490000	0.04691	TAC	SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.627	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	A	NM_003062		168114012	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	missense	SNP	1.000	C
SLIT3	6586	genome.wustl.edu	37	5	168180967	168180967	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:168180967G>A	ENST00000519560.1	-	17	2150	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SLIT3_ENST00000332966.8_Silent_p.F577F|SLIT3_ENST00000404867.3_Silent_p.F577F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	577					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)			CTGCTCCATCGAAAGCTCCCT	0.532																																					Ovarian(29;311 847 10864 17279 24903)												0													38.0	36.0	37.0					5																	168180967		2203	4300	6503	SO:0001819	synonymous_variant	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.1731C>T	5.37:g.168180967G>A			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	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.F577	ENST00000519560.1	37	c.1731	CCDS4369.1	5																																																																																			SLIT3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp		0.532	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	G	NM_003062		168180967	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	silent	SNP	0.813	A
SLITRK1	114798	genome.wustl.edu	37	13	84455409	84455409	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:84455409G>A	ENST00000377084.2	-	1	1119	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	78					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.F78F(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAAAGTTAGCGAACTCATTAG	0.478																																																	1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.234C>T	13.37:g.84455409G>A			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F78	ENST00000377084.2	37	c.234	CCDS9464.1	13																																																																																			SLITRK1	-	NULL		0.478	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84455409	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	1.000	A
SLITRK4	139065	genome.wustl.edu	37	X	142718310	142718310	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:142718310G>A	ENST00000381779.4	-	2	840	c.615C>T	c.(613-615)gtC>gtT	p.V205V	SLITRK4_ENST00000356928.1_Silent_p.V205V|SLITRK4_ENST00000338017.4_Silent_p.V205V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	205						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCAATTCAACGACACGGCCAA	0.428																																																	0													88.0	84.0	85.0					X																	142718310		2203	4300	6503	SO:0001819	synonymous_variant	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.615C>T	X.37:g.142718310G>A			Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V205	ENST00000381779.4	37	c.615	CCDS14679.1	X																																																																																			SLITRK4	-	NULL		0.428	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	G	NM_173078		142718310	-1	no_errors	ENST00000338017	ensembl	human	known	70_37	silent	SNP	0.013	A
SLITRK4	139065	genome.wustl.edu	37	X	142718888	142718888	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:142718888T>C	ENST00000381779.4	-	2	262	c.37A>G	c.(37-39)Att>Gtt	p.I13V	SLITRK4_ENST00000356928.1_Missense_Mutation_p.I13V|SLITRK4_ENST00000338017.4_Missense_Mutation_p.I13V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	13						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTCGAAGAAATCAGGGCTGAC	0.373																																																	0													44.0	42.0	42.0					X																	142718888		2203	4299	6502	SO:0001583	missense	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.37A>G	X.37:g.142718888T>C	ENSP00000371198:p.Ile13Val		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.I13V	ENST00000381779.4	37	c.37	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.599316	0.00849	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.49720	0.77;0.77;0.77	5.39	4.23	0.50019	.	0.659654	0.15189	N	0.275677	T	0.22742	0.0549	N	0.11427	0.14	0.27231	N	0.959391	B	0.02656	0.0	B	0.04013	0.001	T	0.22487	-1.0215	10	0.07030	T	0.85	-9.1469	6.8477	0.23996	0.0:0.17:0.0:0.83	.	13	Q8IW52	SLIK4_HUMAN	V	13	ENSP00000371198:I13V;ENSP00000349400:I13V;ENSP00000336627:I13V	ENSP00000336627:I13V	I	-	1	0	SLITRK4	142546554	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	1.034000	0.30204	1.798000	0.52647	0.481000	0.45027	ATT	SLITRK4	-	NULL		0.373	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	T	NM_173078		142718888	-1	no_errors	ENST00000338017	ensembl	human	known	70_37	missense	SNP	1.000	C
SLK	9748	genome.wustl.edu	37	10	105762554	105762554	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:105762554G>T	ENST00000369755.3	+	9	2163	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y	SLK_ENST00000335753.4_Missense_Mutation_p.D540Y	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	540	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AACTCAAAAAGATGTGATCAG	0.433																																					NSCLC(111;540 1651 1927 4474 17706)												0													96.0	95.0	95.0					10																	105762554		2203	4300	6503	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1618G>T	10.37:g.105762554G>T	ENSP00000358770:p.Asp540Tyr		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom	p.D540Y	ENST00000369755.3	37	c.1618	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	G	8.079	0.771941	0.16051	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69561	-0.41;-0.41	6.03	3.08	0.35506	Protein kinase-like domain (1);	0.813538	0.11400	N	0.567953	T	0.52075	0.1712	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.45293	-0.9271	10	0.62326	D	0.03	.	7.7757	0.29035	0.1439:0.0:0.7243:0.1318	.	540;540	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Y	540	ENSP00000336824:D540Y;ENSP00000358770:D540Y	ENSP00000336824:D540Y	D	+	1	0	SLK	105752544	0.582000	0.26749	0.000000	0.03702	0.234000	0.25298	2.712000	0.47186	0.385000	0.24970	0.555000	0.69702	GAT	SLK	-	superfamily_Kinase-like_dom		0.433	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	G	NM_014720		105762554	+1	no_errors	ENST00000369755	ensembl	human	known	70_37	missense	SNP	0.005	T
SLK	9748	genome.wustl.edu	37	10	105768104	105768104	+	Missense_Mutation	SNP	G	G	A	rs554070501		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:105768104G>A	ENST00000369755.3	+	12	3319	c.2774G>A	c.(2773-2775)cGa>cAa	p.R925Q	SLK_ENST00000474260.1_3'UTR|SLK_ENST00000335753.4_Missense_Mutation_p.R925Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	925					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTGAAGAACCGAAAGAAGGAG	0.328																																					NSCLC(111;540 1651 1927 4474 17706)												0													61.0	60.0	60.0					10																	105768104		2203	4300	6503	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2774G>A	10.37:g.105768104G>A	ENSP00000358770:p.Arg925Gln		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom	p.R925Q	ENST00000369755.3	37	c.2774	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440251	0.83993	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.28666	1.6;1.6	5.94	4.09	0.47781	Protein kinase-like domain (1);	0.065503	0.64402	D	0.000009	T	0.28134	0.0694	L	0.50333	1.59	0.48571	D	0.999672	D;D	0.55800	0.966;0.973	B;P	0.44561	0.422;0.453	T	0.03017	-1.1082	10	0.33940	T	0.23	.	8.6734	0.34165	0.2491:0.0:0.7509:0.0	.	925;925	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Q	925	ENSP00000336824:R925Q;ENSP00000358770:R925Q	ENSP00000336824:R925Q	R	+	2	0	SLK	105758094	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	2.862000	0.48388	1.522000	0.49001	0.650000	0.86243	CGA	SLK	-	pfam_PKK,superfamily_Kinase-like_dom		0.328	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	G	NM_014720		105768104	+1	no_errors	ENST00000369755	ensembl	human	known	70_37	missense	SNP	1.000	A
SMAD5	4090	genome.wustl.edu	37	5	135515182	135515182	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:135515182G>T	ENST00000514641.2	+	0	3773				SMAD5_ENST00000545279.1_3'UTR|SMAD5_ENST00000545620.1_3'UTR			Q99717	SMAD5_HUMAN	SMAD family member 5						BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCGAGGAAAGAATTATGCAA	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	4090			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000514641.2:c.*3770G>T	5.37:g.135515182G>T			O14688|Q15798|Q9UQA1	RNA	SNP	-	NULL	ENST00000514641.2	37	NULL		5																																																																																			SMAD5	-	-		0.333	SMAD5-001	KNOWN	basic	processed_transcript	SMAD5	HGNC	protein_coding	OTTHUMT00000372096.2	G	NM_005903		135515182	+1	no_errors	ENST00000514641	ensembl	human	known	70_37	rna	SNP	0.236	T
SMAP2	64744	genome.wustl.edu	37	1	40881971	40881971	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:40881971C>A	ENST00000539317.1	+	8	758	c.565C>A	c.(565-567)Ctt>Att	p.L189I		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	269	Interaction with clathrin heavy chains. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AGACTCCATTCTTTCACTGTA	0.493																																																	0													128.0	125.0	126.0					1																	40881971		2203	4300	6503	SO:0001583	missense	64744			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.565C>A	1.37:g.40881971C>A	ENSP00000442835:p.Leu189Ile		B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.L269I	ENST00000539317.1	37	c.805	CCDS55593.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816301	0.90790	.	.	ENSG00000084070	ENST00000372718;ENST00000372708;ENST00000539317	T;T;T	0.63744	0.66;0.55;-0.06	6.17	5.26	0.73747	.	0.000000	0.64402	D	0.000003	T	0.77232	0.4100	M	0.76170	2.325	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.993	D;D;D	0.80764	0.994;0.978;0.967	T	0.78393	-0.2221	10	0.72032	D	0.01	-18.1823	12.5938	0.56456	0.0:0.9215:0.0:0.0785	.	189;239;269	B7Z5B5;Q8WU79-2;Q8WU79	.;.;SMAP2_HUMAN	I	269;239;189	ENSP00000361803:L269I;ENSP00000361793:L239I;ENSP00000442835:L189I	ENSP00000361793:L239I	L	+	1	0	SMAP2	40654558	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.297000	0.59061	2.941000	0.99782	0.655000	0.94253	CTT	SMAP2	-	NULL		0.493	SMAP2-201	KNOWN	basic|CCDS	protein_coding	SMAP2	HGNC	protein_coding		C	NM_022733		40881971	+1	no_errors	ENST00000372718	ensembl	human	known	70_37	missense	SNP	1.000	A
SMC2	10592	genome.wustl.edu	37	9	106887246	106887246	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:106887246G>T	ENST00000286398.7	+	18	2599	c.2311G>T	c.(2311-2313)Gaa>Taa	p.E771*	SMC2_ENST00000374787.3_Nonsense_Mutation_p.E771*|SMC2_ENST00000303219.8_Nonsense_Mutation_p.E771*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.E771*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	771					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAAAGCAGAAGAAAAATATGA	0.343																																																	0													47.0	50.0	49.0					9																	106887246		2203	4299	6502	SO:0001587	stop_gained	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2311G>T	9.37:g.106887246G>T	ENSP00000286398:p.Glu771*		Q6IEE0|Q9P1P2	Nonsense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.E771*	ENST00000286398.7	37	c.2311	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	42	9.579950	0.99210	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-26.7444	11.8931	0.52641	0.0842:0.0:0.9158:0.0	.	.	.	.	X	771	.	ENSP00000286398:E771X	E	+	1	0	SMC2	105927067	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.506000	0.73712	2.818000	0.97014	0.591000	0.81541	GAA	SMC2	-	NULL		0.343	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	G			106887246	+1	no_errors	ENST00000286398	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SMEK1	55671	genome.wustl.edu	37	14	91952071	91952071	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:91952071T>G	ENST00000554943.1	-	3	317	c.202A>C	c.(202-204)Act>Cct	p.T68P	SMEK1_ENST00000337238.4_Missense_Mutation_p.T68P|SMEK1_ENST00000554684.1_Missense_Mutation_p.T68P|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000555462.1_Intron			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	68	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		ACAATCAGAGTGTCCTTTGGA	0.343																																																	0													76.0	70.0	72.0					14																	91952071		2203	4299	6502	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.202A>C	14.37:g.91952071T>G	ENSP00000450883:p.Thr68Pro		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.T68P	ENST00000554943.1	37	c.202		14	.	.	.	.	.	.	.	.	.	.	T	27.9	4.868636	0.91587	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000554943;ENST00000554390;ENST00000557018;ENST00000554511	T;T;T;T;D;D	0.98717	1.03;1.03;1.03;1.03;-5.09;-5.09	5.69	5.69	0.88448	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.98626	1.0669	10	0.87932	D	0	-13.5916	15.9487	0.79813	0.0:0.0:0.0:1.0	.	68;68	Q6IN85;Q6IN85-2	P4R3A_HUMAN;.	P	68	ENSP00000450864:T68P;ENSP00000337125:T68P;ENSP00000450883:T68P;ENSP00000452596:T68P;ENSP00000450432:T68P;ENSP00000451939:T68P	ENSP00000337125:T68P	T	-	1	0	SMEK1	91021824	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.040000	0.89188	2.173000	0.68751	0.533000	0.62120	ACT	SMEK1	-	NULL		0.343	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	T	NM_032560		91952071	-1	no_errors	ENST00000554943	ensembl	human	known	70_37	missense	SNP	1.000	G
SMG7	9887	genome.wustl.edu	37	1	183518411	183518411	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:183518411C>A	ENST00000347615.2	+	18	2930	c.2811C>A	c.(2809-2811)ttC>ttA	p.F937L	SMG7_ENST00000515829.2_Missense_Mutation_p.F891L|SMG7_ENST00000456731.2_Missense_Mutation_p.F849L|SMG7_ENST00000508461.1_Missense_Mutation_p.F945L|SMG7_ENST00000367537.3_Missense_Mutation_p.F970L|SMG7_ENST00000507469.1_Missense_Mutation_p.F941L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	937	Ser-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCACCGGATTCTCTCTCAATC	0.403																																																	0													124.0	112.0	116.0					1																	183518411		2203	4300	6503	SO:0001583	missense	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2811C>A	1.37:g.183518411C>A	ENSP00000340766:p.Phe937Leu		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.F941L	ENST00000347615.2	37	c.2823	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694193	0.88735	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.75	5.75	0.90469	.	0.566426	0.20471	N	0.091687	T	0.47563	0.1452	L	0.29908	0.895	0.53005	D	0.999964	P;P;B;P;P	0.52842	0.956;0.649;0.426;0.826;0.956	D;B;B;B;D	0.65010	0.931;0.219;0.199;0.292;0.931	T	0.41698	-0.9494	10	0.02654	T	1	-13.6344	10.0544	0.42237	0.0:0.8471:0.0:0.1529	.	945;849;891;937;941	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	L	849;970;945;937;941;891	ENSP00000407629:F849L;ENSP00000356507:F970L;ENSP00000426915:F945L;ENSP00000340766:F937L;ENSP00000425133:F941L;ENSP00000421358:F891L	ENSP00000340766:F937L	F	+	3	2	SMG7	181785034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.531000	0.36018	2.708000	0.92522	0.650000	0.86243	TTC	SMG7	-	NULL		0.403	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	C	NM_014837		183518411	+1	no_errors	ENST00000507469	ensembl	human	known	70_37	missense	SNP	1.000	A
SMPDL3A	10924	genome.wustl.edu	37	6	123130386	123130386	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:123130386G>T	ENST00000368440.4	+	8	1372	c.1195G>T	c.(1195-1197)Gac>Tac	p.D399Y	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.D268Y	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	399					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.D399N(1)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TACAATCCTAGACAGTAAGCA	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											83.0	86.0	85.0					6																	123130386		2203	4300	6503	SO:0001583	missense	10924			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.1195G>T	6.37:g.123130386G>T	ENSP00000357425:p.Asp399Tyr		B7Z729|Q8WV13	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.D399Y	ENST00000368440.4	37	c.1195	CCDS5128.1	6	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457430	0.26161	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.91464	-2.85;-2.85	5.92	4.13	0.48395	.	0.417866	0.30781	N	0.008898	D	0.84479	0.5481	M	0.83312	2.635	0.09310	N	0.999992	B	0.31054	0.306	B	0.28139	0.086	T	0.79443	-0.1801	10	0.66056	D	0.02	-3.6449	11.0436	0.47846	0.0707:0.2998:0.6295:0.0	.	399	Q92484	ASM3A_HUMAN	Y	399;268	ENSP00000357425:D399Y;ENSP00000442152:D268Y	ENSP00000357425:D399Y	D	+	1	0	SMPDL3A	123172085	0.999000	0.42202	0.146000	0.22360	0.739000	0.42172	3.498000	0.53302	0.821000	0.34540	0.561000	0.74099	GAC	SMPDL3A	-	pirsf_ASM-like_Pdiesterase_prd		0.373	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1	G	NM_006714		123130386	+1	no_errors	ENST00000368440	ensembl	human	known	70_37	missense	SNP	0.036	T
SMTNL1	219537	genome.wustl.edu	37	11	57313464	57313464	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:57313464G>A	ENST00000399154.2	+	5	917	c.917G>A	c.(916-918)gGg>gAg	p.G306E	SMTNL1_ENST00000457912.1_Missense_Mutation_p.G361E|SMTNL1_ENST00000527972.1_Missense_Mutation_p.G343E			A8MU46	SMTL1_HUMAN	smoothelin-like 1	306					negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CGGCCCCGGGGGCCCCGGGCA	0.667																																																	0													24.0	29.0	27.0					11																	57313464		1849	4092	5941	SO:0001583	missense	219537			BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.917G>A	11.37:g.57313464G>A	ENSP00000382108:p.Gly306Glu			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.G361E	ENST00000399154.2	37	c.1082		11	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977903	0.34942	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02525	4.26;4.26;4.26	4.98	3.08	0.35506	.	0.000000	0.31809	U	0.007039	T	0.02380	0.0073	N	0.14661	0.345	0.19300	N	0.99997	P	0.51933	0.949	B	0.43155	0.41	T	0.48647	-0.9017	10	0.45353	T	0.12	-13.1788	11.0885	0.48102	0.0:0.0:0.5114:0.4886	.	361	C9J621	.	E	361;343;306	ENSP00000406485:G361E;ENSP00000432651:G343E;ENSP00000382108:G306E	ENSP00000382108:G306E	G	+	2	0	SMTNL1	57070040	0.915000	0.31059	0.560000	0.28344	0.091000	0.18340	1.516000	0.35856	0.672000	0.31204	0.655000	0.94253	GGG	SMTNL1	-	NULL		0.667	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	SMTNL1	HGNC	protein_coding		G	XM_166203		57313464	+1	no_errors	ENST00000457912	ensembl	human	known	70_37	missense	SNP	0.287	A
SNAP25	6616	genome.wustl.edu	37	20	10287971	10287971	+	3'UTR	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:10287971G>A	ENST00000254976.2	+	0	1958				SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_3'UTR	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TATCATTATAGCATGTAATAT	0.274																																																	0																																										SO:0001624	3_prime_UTR_variant	6616				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.*1126G>A	20.37:g.10287971G>A			B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	RNA	SNP	-	NULL	ENST00000254976.2	37	NULL	CCDS13110.1	20																																																																																			SNAP25	-	-		0.274	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	HGNC	protein_coding	OTTHUMT00000077976.3	G	NM_130811		10287971	+1	no_errors	ENST00000495883	ensembl	human	known	70_37	rna	SNP	1.000	A
SNAP91	9892	genome.wustl.edu	37	6	84417533	84417533	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:84417533C>A	ENST00000439399.2	-	2	430	c.114G>T	c.(112-114)aaG>aaT	p.K38N	SNAP91_ENST00000195649.6_Missense_Mutation_p.K38N|SNAP91_ENST00000437520.1_Missense_Mutation_p.K38N|SNAP91_ENST00000520213.1_Missense_Mutation_p.K38N|SNAP91_ENST00000521743.1_Missense_Mutation_p.K38N|SNAP91_ENST00000369694.2_Missense_Mutation_p.K38N|SNAP91_ENST00000521485.1_Missense_Mutation_p.K38N|SNAP91_ENST00000428679.2_Missense_Mutation_p.K38N|SNAP91_ENST00000520302.1_Missense_Mutation_p.K38N	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	38	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGTGCTTTTTCTTGGGGCCCA	0.572																																																	0													134.0	137.0	136.0					6																	84417533		2037	4235	6272	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.114G>T	6.37:g.84417533C>A	ENSP00000400459:p.Lys38Asn		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.K38N	ENST00000439399.2	37	c.114	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552394	0.86127	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690;ENST00000523484;ENST00000519825	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.39	5.39	0.77823	.	0.042640	0.85682	D	0.000000	T	0.66177	0.2763	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.997	T	0.78425	-0.2209	10	0.87932	D	0	-7.6349	19.1613	0.93533	0.0:1.0:0.0:0.0	.	38;38;38	O60641-3;E5RI02;E1P549	.;.;.	N	38	ENSP00000429776:K38N;ENSP00000358708:K38N;ENSP00000400459:K38N;ENSP00000195649:K38N;ENSP00000412492:K38N;ENSP00000413277:K38N;ENSP00000428511:K38N;ENSP00000428215:K38N;ENSP00000428026:K38N;ENSP00000430071:K38N;ENSP00000429429:K38N;ENSP00000430441:K38N;ENSP00000358704:K38N;ENSP00000427959:K38N;ENSP00000431055:K38N	ENSP00000195649:K38N	K	-	3	2	SNAP91	84474252	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.008000	0.70739	2.528000	0.85240	0.561000	0.74099	AAG	SNAP91	-	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N		0.572	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	C			84417533	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	missense	SNP	1.000	A
SNAPC4	6621	genome.wustl.edu	37	9	139290190	139290190	+	Silent	SNP	G	G	A	rs367593654		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:139290190G>A	ENST00000298532.2	-	3	578	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GATCGTCCTCGTCATTGCTGG	0.567																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	168.0	166.0	167.0		210	-10.3	0.1	9		167	0,8600		0,0,4300	no	coding-synonymous	SNAPC4	NM_003086.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		70/1470	139290190	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.210C>T	9.37:g.139290190G>A				Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.D70	ENST00000298532.2	37	c.210	CCDS6998.1	9																																																																																			SNAPC4	-	NULL		0.567	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	G	NM_003086		139290190	-1	no_errors	ENST00000298532	ensembl	human	known	70_37	silent	SNP	0.194	A
SNCAIP	9627	genome.wustl.edu	37	5	121776323	121776323	+	Splice_Site	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:121776323G>T	ENST00000261368.8	+	7	1558		c.e7-1		SNCAIP_ENST00000414317.2_Splice_Site|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Splice_Site|SNCAIP_ENST00000542191.1_Splice_Site|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000504884.2_Splice_Site|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261367.7_Splice_Site|SNCAIP_ENST00000379536.2_Splice_Site|SNCAIP_ENST00000503116.2_Splice_Site|SNCAIP_ENST00000379533.2_Splice_Site	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein						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)		TGTGTTTATAGGAAAAGATTC	0.398																																																	0													128.0	127.0	127.0					5																	121776323		2203	4300	6503	SO:0001630	splice_region_variant	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.1297-1G>T	5.37:g.121776323G>T			D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Splice_Site	SNP	-	e7-1	ENST00000261368.8	37	c.1438-1	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190065	0.78789	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854;ENST00000503116	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9723	0.92719	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNCAIP	121804222	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	9.260000	0.95568	2.717000	0.92951	0.650000	0.86243	.	SNCAIP	-	-		0.398	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	G		Intron	121776323	+1	no_errors	ENST00000379533	ensembl	human	known	70_37	splice_site	SNP	1.000	T
SNF8	11267	genome.wustl.edu	37	17	47014436	47014436	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:47014436C>T	ENST00000502492.1	-	4	677	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	SNF8_ENST00000514089.1_Intron|AC091133.1_ENST00000435491.1_RNA|SNF8_ENST00000290330.3_Missense_Mutation_p.E99K			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	99					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						ACACCTAGTTCGTAATAGAAG	0.468																																																	0													210.0	202.0	205.0					17																	47014436		2203	4300	6503	SO:0001583	missense	11267			AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"""			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.295G>A	17.37:g.47014436C>T	ENSP00000421380:p.Glu99Lys		Q8IXY3|Q9UN50	Missense_Mutation	SNP	pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8	p.E99K	ENST00000502492.1	37	c.295	CCDS11541.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.966249	0.97156	.	.	ENSG00000159210	ENST00000502492;ENST00000290330;ENST00000510558	.	.	.	5.46	5.46	0.80206	.	0.045701	0.85682	D	0.000000	D	0.83308	0.5226	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	D	0.84800	0.0784	9	0.87932	D	0	-27.3905	19.1052	0.93291	0.0:1.0:0.0:0.0	.	99;99	Q96H20-2;Q96H20	.;SNF8_HUMAN	K	99	.	ENSP00000290330:E99K	E	-	1	0	SNF8	44369435	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.573000	0.82421	2.840000	0.97914	0.655000	0.94253	GAA	SNF8	-	pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8		0.468	SNF8-001	KNOWN	basic|CCDS	protein_coding	SNF8	HGNC	protein_coding	OTTHUMT00000361172.1	C	NM_007241		47014436	-1	no_errors	ENST00000502492	ensembl	human	known	70_37	missense	SNP	1.000	T
SF3B3	23450	genome.wustl.edu	37	16	70563471	70563471	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:70563471T>G	ENST00000302516.5	+	3	608				SNORD111B_ENST00000408587.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GAAGAAAATTTTTGTGTGTCT	0.328																																																	0																																										SO:0001627	intron_variant	100113402			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.397+369T>G	16.37:g.70563471T>G			Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	RNA	SNP	-	NULL	ENST00000302516.5	37	NULL	CCDS10894.1	16																																																																																			SNORD111B	-	-		0.328	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD111B	HGNC	protein_coding	OTTHUMT00000268972.1	T	NM_012426		70563471	+1	no_errors	ENST00000408587	ensembl	human	known	70_37	rna	SNP	0.055	G
SNHG14	104472715	genome.wustl.edu	37	15	25415913	25415913	+	RNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:25415913G>T	ENST00000441592.2	+	0	0				SNORD115-2_ENST00000362842.1_RNA|SNORD115-1_ENST00000364961.1_RNA|SNHG14_ENST00000553149.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GAGAGGTGATGACTTAAAAAT	0.547																																																	0													312.0	336.0	328.0					15																	25415913		876	1991	2867			338433					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25415913G>T				RNA	SNP	-	NULL	ENST00000441592.2	37	NULL		15																																																																																			SNORD115-1	-	-		0.547	SNHG14-009	KNOWN	basic	antisense	SNORD115-1	HGNC	processed_transcript	OTTHUMT00000126736.3	G			25415913	+1	no_errors	ENST00000364961	ensembl	human	known	70_37	rna	SNP	0.008	T
SNHG14	104472715	genome.wustl.edu	37	15	25485057	25485057	+	RNA	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:25485057G>A	ENST00000453082.2	+	0	1979				SNORD115-39_ENST00000363694.1_RNA|SNORD115-37_ENST00000363768.1_RNA|SNORD115-38_ENST00000365037.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATAGGATTACGCTGAGGCCCA	0.507																																																	0													379.0	378.0	378.0					15																	25485057		876	1991	2867			100033812					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25485057G>A				RNA	SNP	-	NULL	ENST00000453082.2	37	NULL		15																																																																																			SNORD115-38	-	-		0.507	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	SNORD115-38	HGNC	processed_transcript	OTTHUMT00000126730.2	G			25485057	+1	no_errors	ENST00000365037	ensembl	human	known	70_37	rna	SNP	0.990	A
SNORD3B-1	26851	genome.wustl.edu	37	17	18967183	18967183	+	lincRNA	SNP	C	C	G	rs577577062	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:18967183C>G	ENST00000363359.1	+	0	432				SNORD3B-2_ENST00000364880.1_lincRNA					small nucleolar RNA, C/D box 3B-1																		CCCAGAAACGCCCCGGAGTTT	0.537													-|||	126	0.0251597	0.0045	0.0389	5008	,	,		16163	0.0		0.0746	False		,,,				2504	0.0184																0													73.0	176.0	154.0					17																	18967183		510	1953	2463			780852			AF020534, AF020533, AF020532		17p11.2	2013-09-05	2006-11-28	2006-11-28	ENSG00000200229	ENSG00000265185			10168	non-coding RNA	RNA, small nucleolar			"""RNA, U3A1 small nucleolar, RNA, U3A1 small nucleolar"""	RNU3A1		9365252	Standard	NR_003271		Approved	U3a, U3b1, U3b2					17.37:g.18967183C>G				RNA	SNP	-	NULL	ENST00000363359.1	37	NULL		17																																																																																			SNORD3B-2	-	-		0.537	SNORD3B-1-201	KNOWN	basic	snoRNA	SNORD3B-2	Clone_based_vega_gene	lincRNA		C	NR_003271		18967183	-1	no_errors	ENST00000571722	ensembl	human	known	70_37	rna	SNP	0.000	G
SNX14	57231	genome.wustl.edu	37	6	86267721	86267721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:86267721C>A	ENST00000314673.3	-	7	783	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	SNX14_ENST00000346348.3_Nonsense_Mutation_p.E159*|RP11-321N4.5_ENST00000503906.1_3'UTR|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Nonsense_Mutation_p.E151*|SNX14_ENST00000513865.1_Nonsense_Mutation_p.E203*|SNX14_ENST00000369627.2_Nonsense_Mutation_p.E203*	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	203	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACTATCACTTCTATATGCTTC	0.269																																																	0													138.0	138.0	138.0					6																	86267721		2201	4296	6497	SO:0001587	stop_gained	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.607G>T	6.37:g.86267721C>A	ENSP00000313121:p.Glu203*		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Nonsense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.E203*	ENST00000314673.3	37	c.607	CCDS5004.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.379554	0.97520	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000509338;ENST00000514419	.	.	.	5.48	5.48	0.80851	.	0.099920	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-12.4532	17.8914	0.88874	0.0:1.0:0.0:0.0	.	.	.	.	X	159;203;203;151;203;130;107;202	.	ENSP00000313121:E203X	E	-	1	0	SNX14	86324440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.252000	0.78309	2.722000	0.93159	0.655000	0.94253	GAA	SNX14	-	pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc		0.269	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	C	NM_153816		86267721	-1	no_errors	ENST00000314673	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ACOT8	10005	genome.wustl.edu	37	20	44470405	44470405	+	3'UTR	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:44470405C>T	ENST00000217455.4	-	0	1122				SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8						acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CCAAAAGGGACTGTAACTCCT	0.542																																																	0																																										SO:0001624	3_prime_UTR_variant	90203			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.*72G>A	20.37:g.44470405C>T			O15261|Q17RX4	RNA	SNP	-	NULL	ENST00000217455.4	37	NULL	CCDS13378.1	20																																																																																			SNX21	-	-		0.542	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX21	HGNC	protein_coding	OTTHUMT00000080338.2	C	NM_183386		44470405	+1	no_errors	ENST00000344780	ensembl	human	known	70_37	rna	SNP	0.000	T
SNX25	83891	genome.wustl.edu	37	4	186168499	186168499	+	5'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:186168499A>C	ENST00000504273.1	+	0	283				SNX25_ENST00000264694.8_5'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25						negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AAGGGTAGTAATTTCTCATAA	0.313																																																	0													119.0	135.0	129.0					4																	186168499		2203	4299	6502	SO:0001623	5_prime_UTR_variant	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.-12A>C	4.37:g.186168499A>C			Q3ZT30|Q8N6K3	RNA	SNP	-	NULL	ENST00000504273.1	37	NULL	CCDS34116.1	4																																																																																			SNX25	-	-		0.313	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	A	NM_031953		186168499	+1	no_errors	ENST00000506896	ensembl	human	known	70_37	rna	SNP	0.987	C
SNX27	81609	genome.wustl.edu	37	1	151665923	151665923	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:151665923C>T	ENST00000458013.2	+	11	1662	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	SNX27_ENST00000368838.1_Silent_p.F421F|SNX27_ENST00000368843.3_Silent_p.F514F			Q96L92	SNX27_HUMAN	sorting nexin family member 27	514	FERM-like region F3.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATGAGTGCTTCGAGAGGGTGT	0.418																																					Colon(46;291 966 40145 41237 41888)												0													171.0	154.0	160.0					1																	151665923		2203	4300	6503	SO:0001819	synonymous_variant	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1542C>T	1.37:g.151665923C>T			Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc	p.F514	ENST00000458013.2	37	c.1542		1																																																																																			SNX27	-	NULL		0.418	SNX27-003	NOVEL	basic	protein_coding	SNX27	HGNC	protein_coding	OTTHUMT00000036624.3	C	NM_030918		151665923	+1	no_errors	ENST00000368843	ensembl	human	known	70_37	silent	SNP	0.993	T
MTCL1	23255	genome.wustl.edu	37	18	8824835	8824835	+	Silent	SNP	C	C	A	rs151273618		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:8824835C>A	ENST00000306329.11	+	13	4284	c.4284C>A	c.(4282-4284)atC>atA	p.I1428I	SOGA2_ENST00000517570.1_Silent_p.I1068I|SOGA2_ENST00000306285.7_Silent_p.I434I|SOGA2_ENST00000359865.3_Silent_p.I1109I|SOGA2_ENST00000518815.1_Silent_p.I434I|SOGA2_ENST00000400050.3_Silent_p.I1068I																							TCAAGTACATCGAGGAGTTCA	0.632																																																	0													74.0	68.0	70.0					18																	8824835		2203	4300	6503	SO:0001819	synonymous_variant	23255																														ENST00000306329.11:c.4284C>A	18.37:g.8824835C>A				Silent	SNP	pfam_DUF3166	p.I1109	ENST00000306329.11	37	c.3327		18																																																																																			SOGA2	-	NULL		0.632	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	C			8824835	+1	no_errors	ENST00000359865	ensembl	human	known	70_37	silent	SNP	0.031	A
SOGA3	387104	genome.wustl.edu	37	6	127797568	127797568	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:127797568C>A	ENST00000525778.1	-	6	2348	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*	SOGA3_ENST00000368268.2_Nonsense_Mutation_p.E535*|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Nonsense_Mutation_p.E535*|SOGA3_ENST00000556132.1_Nonsense_Mutation_p.E535*|SOGA3_ENST00000465909.2_Nonsense_Mutation_p.E535*			Q5TF21	SOGA3_HUMAN	SOGA family member 3	535					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AAAGCGGCTTCTTCCTTAACA	0.408																																																	0													92.0	88.0	89.0					6																	127797568		1863	4103	5966	SO:0001587	stop_gained	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1603G>T	6.37:g.127797568C>A	ENSP00000434570:p.Glu535*			Nonsense_Mutation	SNP	pfam_DUF3166	p.E535*	ENST00000525778.1	37	c.1603	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	47	13.159772	0.99724	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.667	19.4511	0.94867	0.0:1.0:0.0:0.0	.	.	.	.	X	535	.	ENSP00000435559:E535X	E	-	1	0	C6orf174	127839261	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.815000	0.86186	2.613000	0.88420	0.561000	0.74099	GAA	SOGA3	-	pfam_DUF3166		0.408	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	C	NM_001012279		127797568	-1	no_errors	ENST00000368268	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SOHLH2	54937	genome.wustl.edu	37	13	36776105	36776105	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:36776105C>T	ENST00000379881.3	-	2	262	c.174G>A	c.(172-174)gcG>gcA	p.A58A	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A135A|SOHLH2_ENST00000554962.1_Silent_p.A135A|SOHLH2_ENST00000317764.6_Silent_p.A58A	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	58					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CATCCAAAAGCGCTGCTGCCT	0.453																																																	0													151.0	118.0	129.0					13																	36776105		2203	4300	6503	SO:0001819	synonymous_variant	54937			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.174G>A	13.37:g.36776105C>T			B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.A135	ENST00000379881.3	37	c.405	CCDS9355.1	13																																																																																			SOHLH2	-	NULL		0.453	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	C	NM_017826		36776105	-1	no_errors	ENST00000554962	ensembl	human	known	70_37	silent	SNP	0.000	T
SORCS2	57537	genome.wustl.edu	37	4	7668894	7668894	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:7668894G>A	ENST00000507866.2	+	8	1224	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	SORCS2_ENST00000329016.9_Missense_Mutation_p.R200Q	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	372					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTTATCGTCGAAATGAATTT	0.493																																																	0													206.0	199.0	201.0					4																	7668894		1988	4177	6165	SO:0001583	missense	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1115G>A	4.37:g.7668894G>A	ENSP00000422185:p.Arg372Gln		Q9P2L7	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.R372Q	ENST00000507866.2	37	c.1115	CCDS47008.1	4	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870999	0.51695	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.56103	0.48;0.48	4.45	3.6	0.41247	VPS10 (1);	0.000000	0.64402	D	0.000001	T	0.73984	0.3657	M	0.87971	2.92	0.49915	D	0.999837	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.78471	-0.2191	10	0.87932	D	0	.	12.1085	0.53825	0.0848:0.0:0.9152:0.0	.	200;372	B5MED8;Q96PQ0	.;SORC2_HUMAN	Q	372;200	ENSP00000422185:R372Q;ENSP00000329124:R200Q	ENSP00000329124:R200Q	R	+	2	0	SORCS2	7719794	1.000000	0.71417	0.005000	0.12908	0.007000	0.05969	6.108000	0.71522	1.087000	0.41251	0.655000	0.94253	CGA	SORCS2	-	smart_VPS10		0.493	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	G	NM_020777		7668894	+1	no_errors	ENST00000507866	ensembl	human	known	70_37	missense	SNP	0.981	A
SORCS3	22986	genome.wustl.edu	37	10	106974212	106974212	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:106974212T>C	ENST00000369701.3	+	18	2615	c.2388T>C	c.(2386-2388)atT>atC	p.I796I	SORCS3_ENST00000369699.4_Silent_p.I82I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	796					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCGGCGGATTGTGTCCAACA	0.493																																					NSCLC(116;1497 1690 7108 13108 14106)												0													123.0	102.0	109.0					10																	106974212		2203	4300	6503	SO:0001819	synonymous_variant	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2388T>C	10.37:g.106974212T>C			Q5VXF9|Q9NQJ2	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.I796	ENST00000369701.3	37	c.2388	CCDS7558.1	10																																																																																			SORCS3	-	superfamily_PKD_dom,smart_VPS10		0.493	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	T	NM_014978		106974212	+1	no_errors	ENST00000369701	ensembl	human	known	70_37	silent	SNP	0.988	C
SORT1	6272	genome.wustl.edu	37	1	109869778	109869778	+	Silent	SNP	G	G	A	rs368640868		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:109869778G>A	ENST00000256637.6	-	13	1537	c.1479C>T	c.(1477-1479)agC>agT	p.S493S	SORT1_ENST00000538502.1_Silent_p.S356S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	493					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CATCCCCCACGCTACCTGCAA	0.428																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	109.0	100.0	103.0		1068,1479	-2.7	1.0	1		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SORT1	NM_001205228.1,NM_002959.5	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	356/695,493/832	109869778	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1479C>T	1.37:g.109869778G>A			B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	pfam_BNR_rpt,smart_VPS10	p.S493	ENST00000256637.6	37	c.1479	CCDS798.1	1																																																																																			SORT1	-	smart_VPS10		0.428	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1	G	NM_002959		109869778	-1	no_errors	ENST00000256637	ensembl	human	known	70_37	silent	SNP	0.851	A
SOS1	6654	genome.wustl.edu	37	2	39213450	39213450	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:39213450A>G	ENST00000426016.1	-	24	3603	c.3517T>C	c.(3517-3519)Tct>Cct	p.S1173P	SOS1_ENST00000395038.2_Missense_Mutation_p.S1158P|SOS1_ENST00000402219.2_Missense_Mutation_p.S1173P			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1173					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAATGCTTAGACATAATCTAA	0.348									Noonan syndrome																																								0													43.0	47.0	46.0					2																	39213450		2201	4298	6499	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3517T>C	2.37:g.39213450A>G	ENSP00000387784:p.Ser1173Pro		A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S1173P	ENST00000426016.1	37	c.3517	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854525	0.32791	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.78126	-1.06;-1.06;-1.15	5.51	4.35	0.52113	.	0.341077	0.32488	N	0.006038	T	0.68274	0.2983	L	0.43152	1.355	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60737	-0.7204	10	0.22109	T	0.4	.	11.4397	0.50090	0.9292:0.0:0.0708:0.0	.	1173	Q07889	SOS1_HUMAN	P	1173;1173;890;1158	ENSP00000387784:S1173P;ENSP00000384675:S1173P;ENSP00000378479:S1158P	ENSP00000378479:S1158P	S	-	1	0	SOS1	39066954	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.271000	0.58902	1.032000	0.39892	0.528000	0.53228	TCT	SOS1	-	NULL		0.348	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	A	NM_005633		39213450	-1	no_errors	ENST00000402219	ensembl	human	known	70_37	missense	SNP	1.000	G
SOS1	6654	genome.wustl.edu	37	2	39249758	39249758	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:39249758C>A	ENST00000426016.1	-	11	1897	c.1811G>T	c.(1810-1812)gGa>gTa	p.G604V	SOS1_ENST00000395038.2_Missense_Mutation_p.G604V|SOS1_ENST00000402219.2_Missense_Mutation_p.G604V|SOS1_ENST00000472480.1_5'Flank			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	604	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AATAACAGTTCCTGCTTTGAT	0.378									Noonan syndrome																																								0													83.0	83.0	83.0					2																	39249758		2203	4299	6502	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1811G>T	2.37:g.39249758C>A	ENSP00000387784:p.Gly604Val		A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G604V	ENST00000426016.1	37	c.1811	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161723	0.78226	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.56611	0.45;0.45;0.45	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79220	-0.1893	10	0.87932	D	0	.	20.0039	0.97428	0.0:1.0:0.0:0.0	.	336;604	F5GX06;Q07889	.;SOS1_HUMAN	V	604;604;336;604;604	ENSP00000387784:G604V;ENSP00000384675:G604V;ENSP00000378479:G604V	ENSP00000263879:G604V	G	-	2	0	SOS1	39103262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.711000	0.84669	2.722000	0.93159	0.557000	0.71058	GGA	SOS1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.378	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	C	NM_005633		39249758	-1	no_errors	ENST00000402219	ensembl	human	known	70_37	missense	SNP	1.000	A
SP100	6672	genome.wustl.edu	37	2	231326077	231326077	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:231326077T>G	ENST00000264052.5	+	9	1276	c.921T>G	c.(919-921)gtT>gtG	p.V307V	SP100_ENST00000427101.2_Silent_p.V282V|SP100_ENST00000409341.1_Silent_p.V307V|SP100_ENST00000409897.1_Silent_p.V272V|SP100_ENST00000341950.4_Silent_p.V307V|SP100_ENST00000409824.1_Silent_p.V282V|SP100_ENST00000409112.1_Silent_p.V307V|SP100_ENST00000340126.4_Silent_p.V307V	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	307					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATTCAAAAGTTGAGTGCCAAG	0.438																																																	0													101.0	97.0	98.0					2																	231326077		2203	4300	6503	SO:0001819	synonymous_variant	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.921T>G	2.37:g.231326077T>G			B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.V307	ENST00000264052.5	37	c.921	CCDS2477.1	2																																																																																			SP100	-	NULL		0.438	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	T	NM_003113		231326077	+1	no_errors	ENST00000340126	ensembl	human	known	70_37	silent	SNP	0.001	G
SPAG17	200162	genome.wustl.edu	37	1	118629688	118629688	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:118629688C>T	ENST00000336338.5	-	11	1425					NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17							cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAGTGATACTCACTGCTCATT	0.468																																																	0																																										SO:0001627	intron_variant	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1360-57G>A	1.37:g.118629688C>T			Q8NAZ1|Q9NT21	RNA	SNP	-	NULL	ENST00000336338.5	37	NULL	CCDS899.1	1																																																																																			SPAG17	-	-		0.468	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	C	NM_206996		118629688	-1	no_errors	ENST00000463628	ensembl	human	known	70_37	rna	SNP	0.000	T
SPAG5	10615	genome.wustl.edu	37	17	26913507	26913507	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:26913507T>G	ENST00000321765.5	-	5	1780	c.1448A>C	c.(1447-1449)aAa>aCa	p.K483T		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	483	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGCTGAAGTTTATTAGTTAT	0.433																																																	0													167.0	146.0	153.0					17																	26913507		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1448A>C	17.37:g.26913507T>G	ENSP00000323300:p.Lys483Thr		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.K483T	ENST00000321765.5	37	c.1448	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	T	11.57	1.679017	0.29783	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.39	2.99	0.34606	.	0.412940	0.23265	N	0.050081	T	0.22003	0.0530	N	0.12746	0.255	0.24021	N	0.99614	B	0.17667	0.023	B	0.12156	0.007	T	0.21245	-1.0251	9	0.14656	T	0.56	-0.6802	10.0849	0.42412	0.0:0.0:0.4391:0.5609	.	483	Q96R06	SPAG5_HUMAN	T	483	.	ENSP00000323300:K483T	K	-	2	0	SPAG5	23937634	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	1.327000	0.33746	0.276000	0.22118	0.533000	0.62120	AAA	SPAG5	-	NULL		0.433	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	T	NM_006461		26913507	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.990	G
SPAG9	9043	genome.wustl.edu	37	17	49054558	49054558	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:49054558A>C	ENST00000262013.7	-	27	3642	c.3434T>G	c.(3433-3435)tTt>tGt	p.F1145C	SPAG9_ENST00000505279.1_Missense_Mutation_p.F1135C|SPAG9_ENST00000357122.4_Missense_Mutation_p.F1131C|SPAG9_ENST00000510283.1_Missense_Mutation_p.F988C	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1145					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AATTCTCACAAAAGAGAAGCC	0.393																																																	0													119.0	109.0	112.0					17																	49054558		2203	4300	6503	SO:0001583	missense	9043			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3434T>G	17.37:g.49054558A>C	ENSP00000262013:p.Phe1145Cys		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.F1145C	ENST00000262013.7	37	c.3434	CCDS45740.1	17	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871418	0.91587	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.59	5.59	0.84812	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.47716	1.5	0.80722	D	1	P;P;D;D	0.64830	0.938;0.898;0.988;0.994	P;P;D;D	0.68765	0.8;0.727;0.96;0.949	T	0.22765	-1.0207	10	0.22109	T	0.4	-15.4329	15.7625	0.78096	1.0:0.0:0.0:0.0	.	1135;1145;1131;988	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	C	1145;902;892;988;1135;1131;743	ENSP00000262013:F1145C;ENSP00000423165:F988C;ENSP00000426900:F1135C;ENSP00000349636:F1131C	ENSP00000262013:F1145C	F	-	2	0	SPAG9	46409557	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.899000	0.92544	2.120000	0.65058	0.377000	0.23210	TTT	SPAG9	-	superfamily_WD40_repeat_dom		0.393	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	A	NM_003971		49054558	-1	no_errors	ENST00000262013	ensembl	human	known	70_37	missense	SNP	1.000	C
RP11-383M4.6	0	genome.wustl.edu	37	9	84549182	84549182	+	lincRNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:84549182A>C	ENST00000585776.1	-	0	1039				RP11-383M4.2_ENST00000427387.1_lincRNA|SPATA31D4_ENST00000341875.4_RNA																							ACCTTTTCAGAAAATGGATGC	0.443																																																	0																																												389761																															9.37:g.84549182A>C				RNA	SNP	-	NULL	ENST00000585776.1	37	NULL		9																																																																																			SPATA31D4	-	-		0.443	RP11-383M4.6-001	KNOWN	basic	lincRNA	SPATA31D4	HGNC	lincRNA	OTTHUMT00000453562.1	A			84549182	+1	no_errors	ENST00000341875	ensembl	human	known	70_37	rna	SNP	0.001	C
RP11-383M4.6	0	genome.wustl.edu	37	9	84564737	84564737	+	lincRNA	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:84564737T>G	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							AGTTGGACATTTAAGGGGAAG	0.488																																																	0																																												389762																															9.37:g.84564737T>G				RNA	SNP	-	NULL	ENST00000585776.1	37	NULL		9																																																																																			SPATA31D3	-	-		0.488	RP11-383M4.6-001	KNOWN	basic	lincRNA	SPATA31D3	HGNC	lincRNA	OTTHUMT00000453562.1	T			84564737	+1	no_errors	ENST00000334208	ensembl	human	known	70_37	rna	SNP	0.001	G
SPATA31D1	389763	genome.wustl.edu	37	9	84609736	84609736	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:84609736G>A	ENST00000344803.2	+	4	4398	c.4351G>A	c.(4351-4353)Gca>Aca	p.A1451T		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1451					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCATGTCAGAGCAGAGCCTGT	0.552																																																	0													44.0	44.0	44.0					9																	84609736		1941	4131	6072	SO:0001583	missense	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.4351G>A	9.37:g.84609736G>A	ENSP00000341988:p.Ala1451Thr			Missense_Mutation	SNP	NULL	p.A1451T	ENST00000344803.2	37	c.4351	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541531	0.27563	.	.	ENSG00000214929	ENST00000344803	T	0.05925	3.37	2.91	-0.184	0.13280	.	.	.	.	.	T	0.06962	0.0177	N	0.12182	0.205	0.09310	N	1	D	0.65815	0.995	P	0.61003	0.882	T	0.32322	-0.9911	9	0.51188	T	0.08	-0.0639	2.9736	0.05930	0.2891:0.2401:0.4708:0.0	.	1451	Q6ZQQ2	F75D1_HUMAN	T	1451	ENSP00000341988:A1451T	ENSP00000341988:A1451T	A	+	1	0	FAM75D1	83799556	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.514000	0.06298	-0.038000	0.13624	0.655000	0.94253	GCA	SPATA31D1	-	NULL		0.552	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84609736	+1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.000	A
SPATS1	221409	genome.wustl.edu	37	6	44328224	44328224	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:44328224C>T	ENST00000288390.2	+	3	676	c.329C>T	c.(328-330)tCt>tTt	p.S110F	SPATS1_ENST00000323108.8_Missense_Mutation_p.S110F|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	110										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCTCACATTCTGATCACTCC	0.458																																																	0													157.0	142.0	147.0					6																	44328224		2203	4300	6503	SO:0001583	missense	221409			AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.329C>T	6.37:g.44328224C>T	ENSP00000424400:p.Ser110Phe		Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	NULL	p.S110F	ENST00000288390.2	37	c.329	CCDS4911.1	6	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465419	0.43839	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.59224	0.28;0.28	5.42	5.42	0.78866	.	0.108036	0.41823	D	0.000815	T	0.64450	0.2599	M	0.62723	1.935	0.09310	N	0.999999	D	0.76494	0.999	D	0.66979	0.948	T	0.60707	-0.7210	10	0.87932	D	0	.	15.0855	0.72148	0.0:1.0:0.0:0.0	.	110	Q496A3	SPAS1_HUMAN	F	110	ENSP00000437552:S110F;ENSP00000424400:S110F	ENSP00000424400:S110F	S	+	2	0	SPATS1	44436202	0.002000	0.14202	0.066000	0.19879	0.207000	0.24258	1.279000	0.33191	2.705000	0.92388	0.591000	0.81541	TCT	SPATS1	-	NULL		0.458	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATS1	HGNC	protein_coding	OTTHUMT00000040738.2	C	NM_145026		44328224	+1	no_errors	ENST00000288390	ensembl	human	known	70_37	missense	SNP	0.049	T
SPEG	10290	genome.wustl.edu	37	2	220307972	220307972	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:220307972G>T	ENST00000312358.7	+	2	520				SPEG_ENST00000396695.2_Intron|SPEG_ENST00000396698.1_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus						cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGCCCATGAGATGTGGAACC	0.627											OREG0003995	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0																																										SO:0001627	intron_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.389-1403G>T	2.37:g.220307972G>T		2265	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	RNA	SNP	-	NULL	ENST00000312358.7	37	NULL	CCDS42824.1	2																																																																																			SPEG	-	-		0.627	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	G	NM_005876		220307972	+1	no_errors	ENST00000498378	ensembl	human	known	70_37	rna	SNP	0.181	T
SPEN	23013	genome.wustl.edu	37	1	16245496	16245496	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:16245496A>C	ENST00000375759.3	+	7	1675	c.1471A>C	c.(1471-1473)Aaa>Caa	p.K491Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	491	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAGCGTTTGTAAAGCTATTAA	0.323																																																	0													112.0	111.0	111.0					1																	16245496		2203	4299	6502	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1471A>C	1.37:g.16245496A>C	ENSP00000364912:p.Lys491Gln		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.K491Q	ENST00000375759.3	37	c.1471	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600617	0.87055	.	.	ENSG00000065526	ENST00000375759	T	0.20332	2.08	5.85	5.85	0.93711	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.38506	0.1043	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14144	-1.0483	9	0.72032	D	0.01	-8.4818	16.2995	0.82801	1.0:0.0:0.0:0.0	.	491	Q96T58	MINT_HUMAN	Q	491	ENSP00000364912:K491Q	ENSP00000364912:K491Q	K	+	1	0	SPEN	16118083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.278000	0.95766	2.241000	0.73720	0.451000	0.29950	AAA	SPEN	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.323	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	A	NM_015001		16245496	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	C
SPG11	80208	genome.wustl.edu	37	15	44876670	44876670	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:44876670C>A	ENST00000261866.7	-	30	5224	c.5208G>T	c.(5206-5208)gaG>gaT	p.E1736D	SPG11_ENST00000535302.2_Missense_Mutation_p.E1736D|SPG11_ENST00000558319.1_Missense_Mutation_p.E1736D|SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000427534.2_Missense_Mutation_p.E1736D	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1736					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTTAAAATTCTCATGGCATT	0.403																																																	0													44.0	50.0	48.0					15																	44876670		2198	4298	6496	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5208G>T	15.37:g.44876670C>A	ENSP00000261866:p.Glu1736Asp		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.E1736D	ENST00000261866.7	37	c.5208	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	C	3.513	-0.099418	0.07010	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77620	-1.11;-0.85;-0.85	5.74	1.44	0.22558	.	0.287471	0.34777	N	0.003687	T	0.58481	0.2125	L	0.31120	0.905	0.80722	D	1	B;B;B;B	0.14805	0.001;0.011;0.011;0.011	B;B;B;B	0.18561	0.002;0.008;0.022;0.022	T	0.34129	-0.9841	10	0.14656	T	0.56	.	4.4915	0.11815	0.1134:0.427:0.3274:0.1322	.	1736;1736;1736;1736	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	D	1736	ENSP00000261866:E1736D;ENSP00000445278:E1736D;ENSP00000396110:E1736D	ENSP00000261866:E1736D	E	-	3	2	SPG11	42663962	0.875000	0.30112	1.000000	0.80357	0.296000	0.27459	0.389000	0.20751	0.331000	0.23511	-0.224000	0.12420	GAG	SPG11	-	NULL		0.403	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	C			44876670	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	missense	SNP	0.833	A
SPOCD1	90853	genome.wustl.edu	37	1	32259416	32259416	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:32259416G>T	ENST00000360482.2	-	12	2595	c.2466C>A	c.(2464-2466)agC>agA	p.S822R	RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S822R|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.S315R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	822					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TAGGAGTTTGGCTTAGGGCTT	0.572																																																	0													178.0	180.0	179.0					1																	32259416		2203	4300	6503	SO:0001583	missense	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2466C>A	1.37:g.32259416G>T	ENSP00000353670:p.Ser822Arg		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.S822R	ENST00000360482.2	37	c.2466	CCDS347.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.79|11.79	1.745042|1.745042	0.30865|0.30865	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000528579|ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231;ENST00000449266	.|T;T;T;T	.|0.53857	.|0.6;1.59;0.67;1.61	4.95|4.95	3.02|3.02	0.34903|0.34903	.|.	.|.	.|.	.|.	.|.	T|T	0.61185|0.61185	0.2327|0.2327	M|M	0.61703|0.61703	1.905|1.905	0.19775|0.19775	N|N	0.999955|0.999955	.|P;D;D	.|0.71674	.|0.627;0.996;0.998	.|B;P;P	.|0.59115	.|0.155;0.806;0.852	T|T	0.49466|0.49466	-0.8937|-0.8937	5|9	.|0.54805	.|T	.|0.06	-7.9736|-7.9736	6.7626|6.7626	0.23548|0.23548	0.1011:0.1804:0.7185:0.0|0.1011:0.1804:0.7185:0.0	.|.	.|822;258;822	.|Q6ZMY3-2;E9PPM7;Q6ZMY3	.|.;.;SPOC1_HUMAN	D|R	196|315;822;219;258;822;165	.|ENSP00000257100:S315R;ENSP00000353670:S822R;ENSP00000399778:S258R;ENSP00000435851:S822R	.|ENSP00000257100:S315R	A|S	-|-	2|3	0|2	SPOCD1|SPOCD1	32032003|32032003	0.860000|0.860000	0.29831|0.29831	0.041000|0.041000	0.18516|0.18516	0.114000|0.114000	0.19823|0.19823	1.955000|1.955000	0.40372|0.40372	0.721000|0.721000	0.32231|0.32231	0.563000|0.563000	0.77884|0.77884	GCC|AGC	SPOCD1	-	NULL		0.572	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1	G	NM_144569		32259416	-1	no_errors	ENST00000360482	ensembl	human	known	70_37	missense	SNP	0.183	T
SPPL2C	162540	genome.wustl.edu	37	17	43922606	43922606	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:43922606G>T	ENST00000329196.5	+	1	351	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	112	PA.					endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GCTGGCTCAGGGCCAAGGTGC	0.682																																																	0													37.0	40.0	39.0					17																	43922606		2203	4299	6502	SO:0001583	missense	162540				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.334G>T	17.37:g.43922606G>T	ENSP00000332488:p.Gly112Cys		Q8TC67|Q8WVZ6	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22	p.G112C	ENST00000329196.5	37	c.334	CCDS32673.1	17	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377231	0.24944	.	.	ENSG00000185294	ENST00000329196	T	0.06371	3.31	4.8	2.78	0.32641	Protease-associated domain, PA (1);	0.153233	0.30401	N	0.009716	T	0.17323	0.0416	M	0.67953	2.075	0.21184	N	0.999766	D	0.67145	0.996	D	0.70016	0.967	T	0.02743	-1.1116	10	0.62326	D	0.03	-12.8773	6.2587	0.20887	0.1003:0.1881:0.7116:0.0	.	112	Q8IUH8	IMP5_HUMAN	C	112	ENSP00000332488:G112C	ENSP00000332488:G112C	G	+	1	0	AC217771.1	41278386	0.992000	0.36948	0.449000	0.26957	0.273000	0.26683	1.087000	0.30865	0.605000	0.29947	0.650000	0.86243	GGC	SPPL2C	-	pfam_Protease-assoc_domain		0.682	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	HGNC	protein_coding	OTTHUMT00000441156.1	G	NM_175882		43922606	+1	no_errors	ENST00000329196	ensembl	human	known	70_37	missense	SNP	0.453	T
SPTA1	6708	genome.wustl.edu	37	1	158622383	158622383	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:158622383A>G	ENST00000368147.4	-	23	3429	c.3249T>C	c.(3247-3249)aaT>aaC	p.N1083N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1083					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATAAAAATTCATTATAACGTT	0.448																																																	0													124.0	115.0	118.0					1																	158622383		1904	4119	6023	SO:0001819	synonymous_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3249T>C	1.37:g.158622383A>G			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.N1083	ENST00000368147.4	37	c.3249	CCDS41423.1	1																																																																																			SPTA1	-	NULL		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	A	NM_003126		158622383	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	silent	SNP	0.997	G
SPTBN1	6711	genome.wustl.edu	37	2	54857139	54857139	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:54857139A>G	ENST00000356805.4	+	15	3061	c.2780A>G	c.(2779-2781)aAa>aGa	p.K927R	SPTBN1_ENST00000333896.5_Missense_Mutation_p.K914R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	927					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)			AAGGAAATCAAAGCCCAGCAG	0.572																																																	0													66.0	61.0	63.0					2																	54857139		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.2780A>G	2.37:g.54857139A>G	ENSP00000349259:p.Lys927Arg		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.K927R	ENST00000356805.4	37	c.2780	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	A	7.273	0.607558	0.14002	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.50813	0.73;0.73	5.78	4.64	0.57946	.	0.092789	0.64402	N	0.000001	T	0.21590	0.0520	N	0.03608	-0.345	0.32946	D	0.519055	B;B	0.02656	0.0;0.0	B;B	0.11329	0.002;0.006	T	0.22556	-1.0213	10	0.07482	T	0.82	.	10.9789	0.47482	0.9264:0.0:0.0736:0.0	.	914;927	Q01082-3;Q01082	.;SPTB2_HUMAN	R	927;914	ENSP00000349259:K927R;ENSP00000334156:K914R	ENSP00000334156:K914R	K	+	2	0	SPTBN1	54710643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.435000	0.59941	1.043000	0.40175	0.533000	0.62120	AAA	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.572	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	A			54857139	+1	no_errors	ENST00000356805	ensembl	human	known	70_37	missense	SNP	1.000	G
SPTBN5	51332	genome.wustl.edu	37	15	42178429	42178429	+	Missense_Mutation	SNP	G	G	A	rs528552734		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:42178429G>A	ENST00000320955.6	-	7	1251	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	342					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.R342W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGTAGCTGCCGCATGGCGGGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18261	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	prostate(1)											25.0	29.0	28.0					15																	42178429		2001	4186	6187	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1024C>T	15.37:g.42178429G>A	ENSP00000317790:p.Arg342Trp			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R342W	ENST00000320955.6	37	c.1024		15	.	.	.	.	.	.	.	.	.	.	G	12.15	1.853048	0.32699	.	.	ENSG00000137877	ENST00000320955	T	0.69685	-0.42	4.84	1.88	0.25563	.	0.253231	0.33875	N	0.004463	T	0.71065	0.3296	L	0.55103	1.725	0.28927	N	0.891805	D	0.89917	1.0	D	0.70935	0.971	T	0.62548	-0.6831	10	0.37606	T	0.19	.	5.555	0.17111	0.2355:0.0:0.6179:0.1466	.	342	Q9NRC6	SPTN5_HUMAN	W	342	ENSP00000317790:R342W	ENSP00000317790:R342W	R	-	1	2	SPTBN5	39965721	0.990000	0.36364	0.900000	0.35374	0.002000	0.02628	2.511000	0.45476	0.110000	0.17919	-0.136000	0.14681	CGG	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	G	NM_016642		42178429	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	missense	SNP	0.996	A
SPZ1	84654	genome.wustl.edu	37	5	79616659	79616659	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:79616659G>T	ENST00000296739.4	+	1	870	c.625G>T	c.(625-627)Gat>Tat	p.D209Y		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	209	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D209Y(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTTTGCAAGAGATTTGGTAAA	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											63.0	58.0	59.0					5																	79616659		1820	4070	5890	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.625G>T	5.37:g.79616659G>T	ENSP00000369611:p.Asp209Tyr		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	NULL	p.D209Y	ENST00000296739.4	37	c.625	CCDS43336.1	5	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778255	0.49786	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.58797	0.31;1.29	4.45	1.49	0.22878	.	1.016950	0.07865	N	0.966985	T	0.64702	0.2622	L	0.47190	1.495	0.09310	N	1	D	0.58268	0.982	P	0.60012	0.867	T	0.51857	-0.8652	10	0.52906	T	0.07	-10.6905	8.2206	0.31539	0.0894:0.3624:0.5482:0.0	.	209	Q9BXG8	SPZ1_HUMAN	Y	209	ENSP00000426530:D209Y;ENSP00000369611:D209Y	ENSP00000369611:D209Y	D	+	1	0	SPZ1	79652415	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	0.366000	0.20365	0.285000	0.22329	0.563000	0.77884	GAT	SPZ1	-	NULL		0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPZ1	HGNC	protein_coding	OTTHUMT00000369322.1	G	NM_032567		79616659	+1	no_errors	ENST00000296739	ensembl	human	known	70_37	missense	SNP	0.001	T
SRCAP	10847	genome.wustl.edu	37	16	30724941	30724941	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:30724941G>A	ENST00000262518.4	+	16	2787	c.2402G>A	c.(2401-2403)cGc>cAc	p.R801H	SRCAP_ENST00000395059.2_Missense_Mutation_p.R801H|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.R801H	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	801					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R801H(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGTCTCATCGCGAGTTCAAG	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)											190.0	167.0	175.0					16																	30724941		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2402G>A	16.37:g.30724941G>A	ENSP00000262518:p.Arg801His		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R801H	ENST00000262518.4	37	c.2402	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764112	0.69878	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93307	-3.2;-3.2;-3.2	5.54	5.54	0.83059	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.56097	D	0.000025	D	0.94817	0.8326	L	0.33189	0.99	0.80722	D	1	D;D;D	0.89917	0.965;1.0;1.0	P;D;D	0.91635	0.661;0.999;0.999	D	0.95030	0.8168	10	0.66056	D	0.02	-8.1585	18.4191	0.90582	0.0:0.0:1.0:0.0	.	801;801;801	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	H	801	ENSP00000262518:R801H;ENSP00000378499:R801H;ENSP00000343042:R801H	ENSP00000262518:R801H	R	+	2	0	SRCAP	30632442	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	3.758000	0.55220	2.884000	0.98904	0.655000	0.94253	CGC	SRCAP	-	pfam_SNF2_N,smart_Helicase_ATP-bd		0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	G	NM_006662		30724941	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	A
SRCAP	10847	genome.wustl.edu	37	16	30735135	30735135	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:30735135A>C	ENST00000262518.4	+	25	4775	c.4390A>C	c.(4390-4392)Act>Cct	p.T1464P	SRCAP_ENST00000395059.2_Missense_Mutation_p.T1402P|SRCAP_ENST00000344771.4_Missense_Mutation_p.T1306P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1464	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCCCCCTTGACTGTTTCTGC	0.597																																																	0													218.0	184.0	195.0					16																	30735135		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4390A>C	16.37:g.30735135A>C	ENSP00000262518:p.Thr1464Pro		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.T1464P	ENST00000262518.4	37	c.4390	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	7.580	0.668540	0.14776	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90788	-2.69;-2.72;-2.73	5.93	5.93	0.95920	.	0.114107	0.40302	N	0.001134	T	0.73305	0.3570	N	0.02539	-0.55	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.58120	-0.7692	10	0.02654	T	1	-7.7503	10.1853	0.42993	0.1541:0.6976:0.1483:0.0	.	1306;1402;1464	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	P	1464;1402;1306	ENSP00000262518:T1464P;ENSP00000378499:T1402P;ENSP00000343042:T1306P	ENSP00000262518:T1464P	T	+	1	0	SRCAP	30642636	0.000000	0.05858	0.999000	0.59377	0.783000	0.44284	0.282000	0.18829	1.531000	0.49152	-0.224000	0.12420	ACT	SRCAP	-	NULL		0.597	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	A	NM_006662		30735135	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.891	C
SRD5A3	79644	genome.wustl.edu	37	4	56233805	56233805	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:56233805C>A	ENST00000264228.4	+	4	841	c.613C>A	c.(613-615)Ctt>Att	p.L205I	SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3_ENST00000514398.1_Intron|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	205					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GTTCCATATTCTTGGGATGAT	0.408																																																	0													198.0	170.0	179.0					4																	56233805		2203	4300	6503	SO:0001583	missense	79644			AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.613C>A	4.37:g.56233805C>A	ENSP00000264228:p.Leu205Ile		Q4W5Q6	Missense_Mutation	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.L205I	ENST00000264228.4	37	c.613	CCDS3498.1	4	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483227	0.44147	.	.	ENSG00000128039	ENST00000264228	T	0.29142	1.58	6.07	5.23	0.72850	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.296851	0.34223	N	0.004155	T	0.21881	0.0527	N	0.17723	0.515	0.45307	D	0.998307	P	0.34724	0.465	B	0.38225	0.268	T	0.03587	-1.1022	10	0.09843	T	0.71	-18.4008	14.7117	0.69238	0.0:0.9289:0.0:0.0711	.	205	Q9H8P0	PORED_HUMAN	I	205	ENSP00000264228:L205I	ENSP00000264228:L205I	L	+	1	0	SRD5A3	55928562	0.998000	0.40836	0.995000	0.50966	0.152000	0.21847	0.863000	0.27913	1.550000	0.49438	0.655000	0.94253	CTT	SRD5A3	-	pfam_3-oxo-5_a-steroid_4-DH_C		0.408	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRD5A3	HGNC	protein_coding	OTTHUMT00000250644.2	C	NM_024592		56233805	+1	no_errors	ENST00000264228	ensembl	human	known	70_37	missense	SNP	1.000	A
SRGAP3	9901	genome.wustl.edu	37	3	9069806	9069806	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:9069806C>A	ENST00000383836.3	-	13	1967				SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.R482I	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCGAGCATTTCTTCTTCCTCT	0.428			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													114.0	116.0	116.0					3																	9069806		2203	4300	6503	SO:0001627	intron_variant	9901			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1540-1127G>T	3.37:g.9069806C>A			Q8IX13|Q8IZV8	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R482I	ENST00000383836.3	37	c.1445	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767085	0.90020	.	.	ENSG00000196220	ENST00000360413	T	0.20738	2.05	4.94	4.94	0.65067	.	.	.	.	.	T	0.48978	0.1530	.	.	.	0.50632	D	0.999884	D	0.64830	0.994	D	0.71870	0.975	T	0.52741	-0.8535	8	0.62326	D	0.03	.	18.1036	0.89513	0.0:1.0:0.0:0.0	.	482	O43295-2	.	I	482	ENSP00000353587:R482I	ENSP00000353587:R482I	R	-	2	0	SRGAP3	9044806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.136000	0.77285	2.447000	0.82792	0.591000	0.81541	AGA	SRGAP3	-	pfscan_RhoGAP_dom		0.428	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3	C			9069806	-1	no_errors	ENST00000360413	ensembl	human	known	70_37	missense	SNP	1.000	A
SRP19	6728	genome.wustl.edu	37	5	112203080	112203080	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:112203080A>C	ENST00000505459.1	+	5	456				SRP19_ENST00000282999.3_Missense_Mutation_p.S105R|CTC-487M23.8_ENST00000512790.1_Intron|CTC-487M23.8_ENST00000506997.1_Intron|CTC-554D6.1_ENST00000520401.1_Intron|SRP19_ENST00000515463.1_Intron	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa						cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TTATACACTAAGCCTAACTTC	0.318																																																	0													66.0	66.0	66.0					5																	112203080		2202	4300	6502	SO:0001627	intron_variant	6728				CCDS4108.1, CCDS56375.1, CCDS56376.1, CCDS75286.1	5q21-q22	2008-07-18	2002-08-29		ENSG00000153037	ENSG00000153037			11300	protein-coding gene	gene with protein product		182175	"""signal recognition particle 19kD"""			2460823	Standard	NM_003135		Approved		uc011cvu.2	P09132	OTTHUMG00000128805	ENST00000505459.1:c.302-21A>C	5.37:g.112203080A>C			B2R4E9|D6RCQ5|Q05D77|Q96FG6	Missense_Mutation	SNP	pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19	p.S105R	ENST00000505459.1	37	c.313	CCDS4108.1	5	.	.	.	.	.	.	.	.	.	.	A	14.13	2.442287	0.43326	.	.	ENSG00000153037	ENST00000282999	T	0.43294	0.95	5.17	3.99	0.46301	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.16600	-1.0397	8	0.72032	D	0.01	.	9.7288	0.40348	0.7769:0.2231:0.0:0.0	.	105	Q05D77	.	R	105	ENSP00000282999:S105R	ENSP00000282999:S105R	S	+	1	0	SRP19	112230979	0.037000	0.19845	0.870000	0.34147	0.976000	0.68499	0.277000	0.18734	0.918000	0.36919	0.533000	0.62120	AGC	SRP19	-	NULL		0.318	SRP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP19	HGNC	protein_coding	OTTHUMT00000250737.3	A	NM_003135		112203080	+1	no_errors	ENST00000282999	ensembl	human	putative	70_37	missense	SNP	0.953	C
SRPK2	6733	genome.wustl.edu	37	7	105029109	105029109	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:105029109C>A	ENST00000393651.3	-	2	144	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCGGATGTTTCTCTCTTTTCG	0.692																																																	0													68.0	73.0	71.0					7																	105029109		2203	4300	6503	SO:0001583	missense	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.57G>T	7.37:g.105029109C>A	ENSP00000377262:p.Glu19Asp			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.E19D	ENST00000393651.3	37	c.57	CCDS34724.1	7	.	.	.	.	.	.	.	.	.	.	c	8.452	0.853234	0.17106	.	.	ENSG00000135250	ENST00000393651;ENST00000482897	T;T	0.44083	0.93;0.93	1.68	1.68	0.24146	.	2.135400	0.04219	U	0.333201	T	0.28532	0.0706	N	0.03608	-0.345	0.80722	D	1	B	0.32829	0.386	B	0.42462	0.388	T	0.21724	-1.0237	10	0.34782	T	0.22	.	6.7539	0.23501	0.0:1.0:0.0:0.0	.	19	P78362-2	.	D	19;56	ENSP00000377262:E19D;ENSP00000419240:E56D	ENSP00000377262:E19D	E	-	3	2	SRPK2	104816345	0.936000	0.31750	1.000000	0.80357	0.856000	0.48823	0.552000	0.23376	0.916000	0.36871	0.177000	0.17058	GAG	SRPK2	-	NULL		0.692	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	C	NM_182691		105029109	-1	no_errors	ENST00000393651	ensembl	human	known	70_37	missense	SNP	1.000	A
SRSF3	6428	genome.wustl.edu	37	6	36566676	36566676	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:36566676G>T	ENST00000373715.6	+	3	373	c.257G>T	c.(256-258)aGa>aTa	p.R86I	SRSF3_ENST00000339436.7_Missense_Mutation_p.R86I	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	86	Arg/Ser-rich (RS domain).|Sufficiernt for interaction with NXF1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|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)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GGTGAAAAAAGAAGTAGAAAT	0.498																																																	0													149.0	139.0	142.0					6																	36566676		2203	4300	6503	SO:0001583	missense	6428			L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10785	protein-coding gene	gene with protein product		603364	"""splicing factor, arginine/serine-rich 3"""	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.257G>T	6.37:g.36566676G>T	ENSP00000362820:p.Arg86Ile		B4E241|O08831|P23152|Q5R3K0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R86I	ENST00000373715.6	37	c.257	CCDS4823.1	6	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582550	0.86748	.	.	ENSG00000112081	ENST00000373715;ENST00000339436	T;T	0.74842	0.95;-0.88	5.59	5.59	0.84812	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.82323	2.585	0.80722	D	1	D;D	0.55605	0.972;0.972	P;D	0.66497	0.766;0.944	D	0.87045	0.2143	10	0.87932	D	0	.	19.5798	0.95461	0.0:0.0:1.0:0.0	.	86;86	B4E241;P84103	.;SRSF3_HUMAN	I	86	ENSP00000362820:R86I;ENSP00000344762:R86I	ENSP00000344762:R86I	R	+	2	0	SRSF3	36674654	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.622000	0.88805	0.563000	0.77884	AGA	SRSF3	-	NULL		0.498	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF3	HGNC	protein_coding	OTTHUMT00000040347.2	G	NM_003017		36566676	+1	no_errors	ENST00000373715	ensembl	human	known	70_37	missense	SNP	1.000	T
SRSF12	135295	genome.wustl.edu	37	6	89808347	89808347	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:89808347A>C	ENST00000452027.2	-	5	929	c.736T>G	c.(736-738)Ttt>Gtt	p.F246V		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	246	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						TGTGACCGAAAATGAGAATGC	0.388																																																	0													170.0	162.0	165.0					6																	89808347		1906	4121	6027	SO:0001583	missense	135295			AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.736T>G	6.37:g.89808347A>C	ENSP00000414302:p.Phe246Val		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F246V	ENST00000452027.2	37	c.736	CCDS47459.1	6	.	.	.	.	.	.	.	.	.	.	A	10.01	1.234200	0.22626	.	.	ENSG00000154548	ENST00000452027	T	0.05925	3.37	4.57	3.37	0.38596	.	0.656922	0.14551	N	0.312651	T	0.01421	0.0046	N	0.22421	0.69	0.23577	N	0.997371	B	0.09022	0.002	B	0.12156	0.007	T	0.46527	-0.9185	10	0.17369	T	0.5	.	10.2283	0.43238	0.9173:0.0:0.0827:0.0	.	246	Q8WXF0	SRS12_HUMAN	V	246	ENSP00000414302:F246V	ENSP00000414302:F246V	F	-	1	0	SRSF12	89865066	1.000000	0.71417	0.999000	0.59377	0.798000	0.45092	3.533000	0.53561	1.036000	0.39998	0.482000	0.46254	TTT	SRSF12	-	NULL		0.388	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SRSF12	HGNC	protein_coding	OTTHUMT00000041474.2	A	NM_080743		89808347	-1	no_errors	ENST00000452027	ensembl	human	known	70_37	missense	SNP	1.000	C
SSB	6741	genome.wustl.edu	37	2	170666792	170666792	+	Splice_Site	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:170666792G>T	ENST00000409333.1	+	9	916		c.e9-1		METTL5_ENST00000409837.1_3'UTR|SSB_ENST00000260956.4_Splice_Site			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)						histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TATTTTTATAGAAATCTCTAG	0.323																																																	0													21.0	23.0	22.0					2																	170666792		2169	4296	6465	SO:0001630	splice_region_variant	6741				CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.670-1G>T	2.37:g.170666792G>T			Q15367|Q53XJ4	Splice_Site	SNP	-	e8-1	ENST00000409333.1	37	c.670-1	CCDS2237.1	2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939374	0.52972	.	.	ENSG00000138385	ENST00000260956;ENST00000409005;ENST00000409333	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3231	0.90246	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SSB	170375038	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	8.949000	0.93012	2.414000	0.81942	0.460000	0.39030	.	SSB	-	-		0.323	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SSB	HGNC	protein_coding	OTTHUMT00000333316.1	G	NM_003142	Intron	170666792	+1	no_errors	ENST00000260956	ensembl	human	known	70_37	splice_site	SNP	1.000	T
SSC5D	284297	genome.wustl.edu	37	19	56029462	56029462	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56029462G>T	ENST00000389623.6	+	14	3842	c.3819G>T	c.(3817-3819)acG>acT	p.T1273T		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1273	Pro-rich.|Thr-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						agcccaccacgatgcctcatc	0.632																																																	0													654.0	633.0	639.0					19																	56029462		692	1591	2283	SO:0001819	synonymous_variant	284297				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.3819G>T	19.37:g.56029462G>T			B5MDQ5|C7S7T9|C7S7U0|K7EP70	Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.T1273	ENST00000389623.6	37	c.3819	CCDS46196.1	19																																																																																			SSC5D	-	NULL		0.632	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	G	XM_001718392		56029462	+1	no_errors	ENST00000389623	ensembl	human	known	70_37	silent	SNP	0.000	T
SSRP1	6749	genome.wustl.edu	37	11	57100475	57100475	+	Missense_Mutation	SNP	G	G	T	rs11540303	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:57100475G>T	ENST00000278412.2	-	5	761	c.495C>A	c.(493-495)ttC>ttA	p.F165L		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	165					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GTGGGACGTAGAAGCGCACCT	0.587																																					Colon(89;1000 1340 6884 23013 41819)												0													174.0	142.0	153.0					11																	57100475		2201	4296	6497	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.495C>A	11.37:g.57100475G>T	ENSP00000278412:p.Phe165Leu		Q5BJG8	Missense_Mutation	SNP	pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition	p.F165L	ENST00000278412.2	37	c.495	CCDS7952.1	11	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422631	0.43020	.	.	ENSG00000149136	ENST00000278412;ENST00000526696;ENST00000529002	T;T;T	0.46451	0.87;0.87;0.87	6.04	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	L	0.56340	1.77	0.58432	D	0.999999	P;P	0.44659	0.549;0.84	P;P	0.53809	0.676;0.735	T	0.46965	-0.9153	10	0.41790	T	0.15	.	15.5492	0.76133	0.1255:0.0:0.8745:0.0	.	464;165	Q59GH7;Q08945	.;SSRP1_HUMAN	L	165;68;68	ENSP00000278412:F165L;ENSP00000431154:F68L;ENSP00000434546:F68L	ENSP00000278412:F165L	F	-	3	2	SSRP1	56857051	1.000000	0.71417	0.999000	0.59377	0.379000	0.30106	4.484000	0.60271	0.464000	0.27142	-1.134000	0.01955	TTC	SSRP1	-	NULL		0.587	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSRP1	HGNC	protein_coding	OTTHUMT00000392460.1	G	NM_003146		57100475	-1	no_errors	ENST00000278412	ensembl	human	known	70_37	missense	SNP	1.000	T
SSU72	29101	genome.wustl.edu	37	1	1499997	1499997	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:1499997C>T	ENST00000291386.3	-	2	536				SSU72_ENST00000359060.4_Missense_Mutation_p.R127Q	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)						dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GTGGACGATCCGACGTGCACC	0.602																																																	0																																										SO:0001627	intron_variant	29101			AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.224+155G>A	1.37:g.1499997C>T			Q9BZS6|Q9H933	Missense_Mutation	SNP	pfam_RNA_pol_II_suA,superfamily_Ptyr_pPase_SF	p.R127Q	ENST00000291386.3	37	c.380	CCDS32.1	1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804493	0.31869	.	.	ENSG00000160075	ENST00000359060	T	0.54071	0.59	2.86	1.92	0.25849	.	.	.	.	.	T	0.34193	0.0889	.	.	.	0.09310	N	1	P	0.49090	0.919	B	0.32022	0.139	T	0.21008	-1.0258	8	0.87932	D	0	.	7.8514	0.29457	0.0:0.7434:0.2566:0.0	.	127	Q9NP77-2	.	Q	127	ENSP00000351955:R127Q	ENSP00000351955:R127Q	R	-	2	0	SSU72	1489860	0.003000	0.15002	0.003000	0.11579	0.042000	0.13812	0.448000	0.21726	0.757000	0.33036	0.462000	0.41574	CGG	SSU72	-	NULL		0.602	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSU72	HGNC	protein_coding	OTTHUMT00000001366.1	C	NM_014188		1499997	-1	no_errors	ENST00000359060	ensembl	human	known	70_37	missense	SNP	0.004	T
ST3GAL1	6482	genome.wustl.edu	37	8	134477189	134477189	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:134477189G>A	ENST00000319914.5	-	6	1542	c.515C>T	c.(514-516)gCg>gTg	p.A172V	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.A172V|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.A172V|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.A172V			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	172					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TGCCGTGGGCGCCTTGTTCAT	0.577																																																	0													114.0	108.0	110.0					8																	134477189		2203	4300	6503	SO:0001583	missense	6482			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.515C>T	8.37:g.134477189G>A	ENSP00000318445:p.Ala172Val		O60677|Q9UN51	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.A172V	ENST00000319914.5	37	c.515	CCDS6373.1	8	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038384	0.93630	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.76062	0.3935	M	0.89904	3.07	0.58432	D	0.999999	D	0.71674	0.998	D	0.62955	0.909	T	0.82756	-0.0300	10	0.87932	D	0	-0.0783	16.9451	0.86228	0.0:0.0:1.0:0.0	.	172	Q11201	SIA4A_HUMAN	V	172;172;172;172;42;42	ENSP00000318445:A172V;ENSP00000414073:A172V;ENSP00000428540:A172V;ENSP00000430515:A172V;ENSP00000429638:A42V;ENSP00000427720:A42V	ENSP00000318445:A172V	A	-	2	0	ST3GAL1	134546371	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.684000	0.84104	2.235000	0.73313	0.511000	0.50034	GCG	ST3GAL1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.577	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL1	HGNC	protein_coding	OTTHUMT00000379132.1	G	NM_003033		134477189	-1	no_errors	ENST00000319914	ensembl	human	known	70_37	missense	SNP	1.000	A
ST6GALNAC3	256435	genome.wustl.edu	37	1	76877955	76877955	+	Missense_Mutation	SNP	G	G	A	rs373383533		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:76877955G>A	ENST00000328299.3	+	3	624	c.476G>A	c.(475-477)cGc>cAc	p.R159H	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	159					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGACCTTTCCGCAATATGAGG	0.408																																																	0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	124.0	125.0	125.0		476,476	6.2	1.0	1		125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ST6GALNAC3	NM_001160011.1,NM_152996.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	159/211,159/306	76877955	1,13005	2203	4300	6503	SO:0001583	missense	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.476G>A	1.37:g.76877955G>A	ENSP00000329214:p.Arg159His		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.R159H	ENST00000328299.3	37	c.476	CCDS672.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954542	0.73902	0.0	1.16E-4	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.29655	1.56	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	M	0.64260	1.97	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.97;0.982	T	0.29701	-1.0003	10	0.51188	T	0.08	-27.2995	19.8676	0.96824	0.0:0.0:1.0:0.0	.	94;159;159	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	H	159;159;158;93	ENSP00000329214:R159H	ENSP00000329214:R159H	R	+	2	0	ST6GALNAC3	76650543	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.441000	0.97557	2.941000	0.99782	0.655000	0.94253	CGC	ST6GALNAC3	-	pfam_Glyco_trans_29		0.408	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	G	NM_152996		76877955	+1	no_errors	ENST00000328299	ensembl	human	known	70_37	missense	SNP	1.000	A
ST6GALNAC4	27090	genome.wustl.edu	37	9	130677140	130677141	+	Intron	INS	-	-	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:130677140_130677141insG	ENST00000335791.5	-	3	288				ST6GALNAC4_ENST00000343609.2_Intron|ST6GALNAC4_ENST00000495983.1_5'Flank	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4						cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						ACAGTGGCCATGGGGGGGTGTA	0.644																																																	0																																										SO:0001627	intron_variant	27090			AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.13-20->C	9.37:g.130677147_130677147dupG			Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	RNA	INS	-	NULL	ENST00000335791.5	37	NULL	CCDS6883.1	9																																																																																			ST6GALNAC4	-	-		0.644	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC4	HGNC	protein_coding	OTTHUMT00000054317.2	-	NM_175040		130677141	-1	no_errors	ENST00000483438	ensembl	human	known	70_37	rna	INS	0.003:0.028	G
STAB2	55576	genome.wustl.edu	37	12	104151983	104151983	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:104151983C>T	ENST00000388887.2	+	64	7227	c.7023C>T	c.(7021-7023)ggC>ggT	p.G2341G	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGCTCGAGGCCGTGCATTTC	0.592																																																	0													123.0	90.0	101.0					12																	104151983		2203	4300	6503	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7023C>T	12.37:g.104151983C>T				Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G2341	ENST00000388887.2	37	c.7023	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	C	4.354	0.065261	0.08388	.	.	ENSG00000136011	ENST00000258495	.	.	.	4.55	1.45	0.22620	.	.	.	.	.	T	0.62332	0.2419	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60021	-0.7344	5	0.87932	D	0	.	7.4066	0.26993	0.293:0.3837:0.3233:0.0	.	.	.	.	S	993	.	ENSP00000258495:P993S	P	+	1	0	STAB2	102676113	0.144000	0.22641	0.569000	0.28460	0.527000	0.34593	0.065000	0.14466	-0.021000	0.14009	0.561000	0.74099	CCG	STAB2	-	superfamily_FAS1_domain,pfscan_FAS1_domain		0.592	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	C			104151983	+1	no_errors	ENST00000388887	ensembl	human	known	70_37	silent	SNP	0.362	T
STAG2	10735	genome.wustl.edu	37	X	123229269	123229269	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:123229269C>A	ENST00000371160.1	+	33	3932	c.3642C>A	c.(3640-3642)ttC>ttA	p.F1214L	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.F1214L|STAG2_ENST00000371145.3_Missense_Mutation_p.F1251L|STAG2_ENST00000218089.9_Missense_Mutation_p.F1251L|STAG2_ENST00000354548.5_Missense_Mutation_p.F1145L|STAG2_ENST00000371157.3_Missense_Mutation_p.F1214L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1214					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCCTGATTTCTTTGATCCAG	0.363																																																	0													122.0	108.0	113.0					X																	123229269		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3642C>A	X.37:g.123229269C>A	ENSP00000360202:p.Phe1214Leu		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.F1251L	ENST00000371160.1	37	c.3753	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730446	0.69074	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.52526	1.44;0.72;0.66;0.66;1.44;0.66	4.94	4.94	0.65067	.	0.064498	0.64402	D	0.000004	T	0.42944	0.1225	L	0.38175	1.15	0.51767	D	0.999931	B;B	0.26512	0.008;0.151	B;B	0.29524	0.031;0.103	T	0.36237	-0.9756	10	0.48119	T	0.1	-2.364	17.3091	0.87204	0.0:1.0:0.0:0.0	.	1251;1214	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	L	1251;1145;1214;1214;1251;1214	ENSP00000218089:F1251L;ENSP00000346555:F1145L;ENSP00000360202:F1214L;ENSP00000360199:F1214L;ENSP00000360187:F1251L;ENSP00000360186:F1214L	ENSP00000218089:F1251L	F	+	3	2	STAG2	123056950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.721000	0.61951	2.009000	0.58944	0.513000	0.50165	TTC	STAG2	-	NULL		0.363	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	C	NM_006603		123229269	+1	no_errors	ENST00000218089	ensembl	human	known	70_37	missense	SNP	1.000	A
STAP1	26228	genome.wustl.edu	37	4	68456646	68456646	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:68456646A>C	ENST00000265404.2	+	7	786	c.704A>C	c.(703-705)aAc>aCc	p.N235T	STAP1_ENST00000396225.1_Missense_Mutation_p.N235T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	235	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GTAGGACAAAACTACACTATT	0.363																																																	0													88.0	76.0	80.0					4																	68456646		2203	4300	6503	SO:0001583	missense	26228			AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.704A>C	4.37:g.68456646A>C	ENSP00000265404:p.Asn235Thr		B2R980	Missense_Mutation	SNP	pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.N235T	ENST00000265404.2	37	c.704	CCDS3515.1	4	.	.	.	.	.	.	.	.	.	.	A	8.066	0.769285	0.15983	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	D;D	0.88354	-2.37;-2.37	5.56	1.86	0.25419	SH2 motif (4);	0.225800	0.47455	D	0.000238	D	0.82848	0.5126	L	0.46157	1.445	0.34117	D	0.66368	B	0.32653	0.379	B	0.35182	0.197	T	0.80183	-0.1488	10	0.37606	T	0.19	-14.3767	6.5734	0.22551	0.7242:0.0:0.2758:0.0	.	235	Q9ULZ2	STAP1_HUMAN	T	235	ENSP00000265404:N235T;ENSP00000379527:N235T	ENSP00000265404:N235T	N	+	2	0	STAP1	68139241	0.998000	0.40836	0.977000	0.42913	0.679000	0.39708	1.465000	0.35299	0.486000	0.27676	0.528000	0.53228	AAC	STAP1	-	pfam_SH2,smart_SH2,pfscan_SH2		0.363	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAP1	HGNC	protein_coding	OTTHUMT00000251434.1	A	NM_012108		68456646	+1	no_errors	ENST00000265404	ensembl	human	known	70_37	missense	SNP	0.966	C
STARD6	147323	genome.wustl.edu	37	18	51863617	51863617	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:51863617G>A	ENST00000581310.1	-	6	518	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	STARD6_ENST00000307844.3_Missense_Mutation_p.R49C|STARD6_ENST00000580990.2_5'UTR			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	49	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CCTTCAACACGATATCTACAG	0.313																																																	0													105.0	98.0	100.0					18																	51863617		2203	4297	6500	SO:0001583	missense	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.145C>T	18.37:g.51863617G>A	ENSP00000462349:p.Arg49Cys			Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.R49C	ENST00000581310.1	37	c.145	CCDS11955.1	18	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329169	0.60743	.	.	ENSG00000174448	ENST00000307844	D	0.84516	-1.86	5.4	4.53	0.55603	Lipid-binding START (3);START-like domain (1);	0.000000	0.64402	D	0.000005	D	0.83815	0.5336	M	0.78637	2.42	0.58432	D	0.999992	B	0.32160	0.358	B	0.30105	0.111	D	0.83996	0.0340	10	0.87932	D	0	.	10.6604	0.45698	0.0887:0.0:0.9113:0.0	.	49	P59095	STAR6_HUMAN	C	49	ENSP00000310814:R49C	ENSP00000310814:R49C	R	-	1	0	STARD6	50117615	0.996000	0.38824	1.000000	0.80357	0.865000	0.49528	2.959000	0.49153	1.415000	0.47037	-0.119000	0.15052	CGT	STARD6	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.313	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	STARD6	HGNC	protein_coding	OTTHUMT00000256000.3	G	NM_139171		51863617	-1	no_errors	ENST00000307844	ensembl	human	known	70_37	missense	SNP	1.000	A
STARD9	57519	genome.wustl.edu	37	15	42976720	42976720	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:42976720G>T	ENST00000290607.7	+	23	3001	c.2944G>T	c.(2944-2946)Gac>Tac	p.D982Y		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	982					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						GGGACTAGCAGACCCTAGCCA	0.522																																																	0													48.0	39.0	42.0					15																	42976720		692	1590	2282	SO:0001583	missense	57519			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.2944G>T	15.37:g.42976720G>T	ENSP00000290607:p.Asp982Tyr		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D982Y	ENST00000290607.7	37	c.2944	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616693	0.46736	.	.	ENSG00000159433	ENST00000290607	T	0.66638	-0.22	4.83	0.388	0.16264	.	.	.	.	.	T	0.51381	0.1671	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.48692	-0.9013	7	0.87932	D	0	.	4.6817	0.12738	0.2876:0.0:0.5605:0.1519	.	.	.	.	Y	982	ENSP00000290607:D982Y	ENSP00000290607:D982Y	D	+	1	0	STARD9	40764012	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.395000	0.20850	0.125000	0.18397	0.455000	0.32223	GAC	STARD9	-	NULL		0.522	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	G			42976720	+1	no_errors	ENST00000290607	ensembl	human	known	70_37	missense	SNP	0.000	T
STARD9	57519	genome.wustl.edu	37	15	42983559	42983559	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:42983559G>T	ENST00000290607.7	+	23	9840	c.9783G>T	c.(9781-9783)aaG>aaT	p.K3261N		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	3261					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						CTGTGTCCAAGATTTTATCAC	0.532																																																	0													70.0	66.0	68.0					15																	42983559		692	1590	2282	SO:0001583	missense	57519			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.9783G>T	15.37:g.42983559G>T	ENSP00000290607:p.Lys3261Asn		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K3261N	ENST00000290607.7	37	c.9783	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543971	0.45280	.	.	ENSG00000159433	ENST00000290607	T	0.67523	-0.27	4.1	3.16	0.36331	.	.	.	.	.	T	0.60586	0.2280	L	0.56769	1.78	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.52019	-0.8631	9	0.38643	T	0.18	.	9.5575	0.39348	0.0:0.2445:0.7555:0.0	.	3175	Q9P2P6	STAR9_HUMAN	N	3261	ENSP00000290607:K3261N	ENSP00000290607:K3261N	K	+	3	2	STARD9	40770851	0.011000	0.17503	0.014000	0.15608	0.088000	0.18126	1.098000	0.31000	1.054000	0.40438	0.467000	0.42956	AAG	STARD9	-	NULL		0.532	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	G			42983559	+1	no_errors	ENST00000290607	ensembl	human	known	70_37	missense	SNP	0.021	T
STAT4	6775	genome.wustl.edu	37	2	191996589	191996589	+	Intron	SNP	C	C	T	rs6717352	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:191996589C>T	ENST00000392320.2	-	3	588				STAT4_ENST00000358470.4_Intron|STAT4_ENST00000409995.1_Missense_Mutation_p.R104Q	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4						cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTCTCCATGTCGATCCAAGGG	0.438																																																	0																																										SO:0001627	intron_variant	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.273+14749G>A	2.37:g.191996589C>T			Q96NZ6	Missense_Mutation	SNP	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction	p.R104Q	ENST00000392320.2	37	c.311	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	C	9.001	0.980027	0.18812	.	.	ENSG00000138378	ENST00000409995	T	0.58506	0.33	1.69	0.26	0.15588	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.41305	-0.9516	5	0.26408	T	0.33	.	3.4688	0.07559	0.0:0.2322:0.0:0.7678	.	.	.	.	Q	104	ENSP00000386288:R104Q	ENSP00000386288:R104Q	R	-	2	0	STAT4	191704834	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.097000	0.03349	0.112000	0.17975	-0.290000	0.09829	CGA	STAT4	-	NULL		0.438	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	C	NM_003151		191996589	-1	no_errors	ENST00000409995	ensembl	human	putative	70_37	missense	SNP	0.000	T
STAU2	27067	genome.wustl.edu	37	8	74464260	74464260	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:74464260A>G	ENST00000521451.1	-	8	1233	c.857T>C	c.(856-858)aTt>aCt	p.I286T	STAU2_ENST00000355780.5_Missense_Mutation_p.I474T|STAU2_ENST00000519961.1_Missense_Mutation_p.I506T|STAU2_ENST00000521727.1_Missense_Mutation_p.I486T|STAU2_ENST00000524300.1_Missense_Mutation_p.I506T|STAU2_ENST00000522509.1_Missense_Mutation_p.I474T|STAU2_ENST00000522695.1_Missense_Mutation_p.I474T|STAU2_ENST00000521210.1_Missense_Mutation_p.I402T|STAU2_ENST00000517542.1_Missense_Mutation_p.I468T|STAU2_ENST00000523558.1_Missense_Mutation_p.I334T			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	506					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			AAAGCCTTGAATCCTTGCTAA	0.373																																																	0													49.0	53.0	52.0					8																	74464260		2202	4298	6500	SO:0001583	missense	27067			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.857T>C	8.37:g.74464260A>G	ENSP00000428476:p.Ile286Thr		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.I506T	ENST00000521451.1	37	c.1517		8	.	.	.	.	.	.	.	.	.	.	A	17.08	3.296691	0.60086	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000523533;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542	T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.997;1.0;0.999;0.981;0.981;0.972	D;D;D;D;D;D;D;P	0.83275	0.987;0.996;0.994;0.996;0.994;0.95;0.966;0.715	T	0.73206	-0.4056	10	0.87932	D	0	-14.7512	14.4487	0.67370	1.0:0.0:0.0:0.0	.	486;402;334;402;474;506;474;506	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	T	474;506;334;402;119;474;506;486;286;474;468	ENSP00000428456:I474T;ENSP00000428756:I506T;ENSP00000428741:I334T;ENSP00000429173:I402T;ENSP00000430511:I119T;ENSP00000348026:I474T;ENSP00000430907:I506T;ENSP00000429973:I486T;ENSP00000428476:I286T;ENSP00000427977:I474T;ENSP00000431111:I468T	ENSP00000344030:I334T	I	-	2	0	STAU2	74626814	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.226000	0.89785	2.054000	0.61138	0.528000	0.53228	ATT	STAU2	-	NULL		0.373	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	STAU2	HGNC	protein_coding	OTTHUMT00000379006.4	A	NM_001164380		74464260	-1	no_errors	ENST00000524300	ensembl	human	known	70_37	missense	SNP	1.000	G
STEAP1B	256227	genome.wustl.edu	37	7	22532284	22532284	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:22532284G>A	ENST00000406890.2	-	4	699	c.605C>T	c.(604-606)tCt>tTt	p.S202F	STEAP1B_ENST00000404369.4_Missense_Mutation_p.S221F	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	202						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						AATTCCCAGAGACACATAAAT	0.398																																																	0													253.0	211.0	224.0					7																	22532284		692	1591	2283	SO:0001583	missense	256227				CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.605C>T	7.37:g.22532284G>A	ENSP00000385239:p.Ser202Phe		B5MCI2	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.S202F	ENST00000406890.2	37	c.605	CCDS55094.1	7	.	.	.	.	.	.	.	.	.	.	g	15.50	2.851267	0.51270	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363	D;D;D	0.90844	-2.74;-2.74;-2.74	1.06	1.06	0.20224	Flavoprotein transmembrane component (1);	0.170202	0.27240	U	0.020267	D	0.92057	0.7483	M	0.63843	1.955	0.26676	N	0.971622	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.985	T	0.83003	-0.0176	10	0.66056	D	0.02	-12.4613	5.1627	0.15070	0.0:0.3775:0.6225:0.0	.	221;202	B5MCI2;Q6NZ63	.;STEAL_HUMAN	F	202;221;221	ENSP00000385239:S202F;ENSP00000384370:S221F;ENSP00000416608:S221F	ENSP00000384370:S221F	S	-	2	0	STEAP1B	22498809	1.000000	0.71417	0.997000	0.53966	0.487000	0.33371	4.108000	0.57817	0.927000	0.37143	0.121000	0.15741	TCT	STEAP1B	-	pfam_Fe3_Rdtase_TM_dom		0.398	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STEAP1B	HGNC	protein_coding	OTTHUMT00000326617.2	G			22532284	-1	no_errors	ENST00000406890	ensembl	human	known	70_37	missense	SNP	1.000	A
STEAP2	261729	genome.wustl.edu	37	7	89840798	89840798	+	5'Flank	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:89840798C>T	ENST00000287908.3	+	0	0				STEAP2_ENST00000394626.1_5'Flank|STEAP2_ENST00000394622.2_5'Flank|STEAP2_ENST00000394632.1_5'Flank|STEAP2-AS1_ENST00000478318.2_RNA|STEAP2_ENST00000394629.2_5'Flank|STEAP2_ENST00000402625.2_5'Flank|STEAP2_ENST00000394621.2_5'Flank	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase						copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TCTAAAGCTGCTTCAGAAAGA	0.527											OREG0018157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001631	upstream_gene_variant	100874100			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341		7.37:g.89840798C>T	Exception_encountered	1270	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	RNA	SNP	-	NULL	ENST00000287908.3	37	NULL	CCDS5615.1	7																																																																																			STEAP2-AS1	-	-		0.527	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP2-AS1	HGNC	protein_coding	OTTHUMT00000059662.4	C	NM_152999		89840798	-1	no_errors	ENST00000478318	ensembl	human	known	70_37	rna	SNP	0.000	T
STIM2	57620	genome.wustl.edu	37	4	27009185	27009185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:27009185G>T	ENST00000467011.1	+	8	1437	c.1012G>T	c.(1012-1014)Gaa>Taa	p.E338*	STIM2_ENST00000412829.2_Nonsense_Mutation_p.E425*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.E338*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.E425*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.E338*|STIM2_ENST00000382009.3_Nonsense_Mutation_p.E425*	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	338					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GGCCGAAAAAGAATTTGAACT	0.388																																																	0													61.0	61.0	61.0					4																	27009185		2203	4300	6503	SO:0001587	stop_gained	57620			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1012G>T	4.37:g.27009185G>T	ENSP00000419383:p.Glu338*		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Nonsense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM	p.E425*	ENST00000467011.1	37	c.1273	CCDS54752.1	4	.	.	.	.	.	.	.	.	.	.	G	42	9.268899	0.99120	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519	.	.	.	5.22	5.22	0.72569	.	0.157892	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.1387	0.93439	0.0:0.0:1.0:0.0	.	.	.	.	X	338;425;425;338;425;338;46	.	ENSP00000237364:E425X	E	+	1	0	STIM2	26618283	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.192000	0.65115	2.603000	0.88011	0.591000	0.81541	GAA	STIM2	-	NULL		0.388	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	STIM2	HGNC	protein_coding	OTTHUMT00000356861.1	G	NM_020860		27009185	+1	no_errors	ENST00000382009	ensembl	human	known	70_37	nonsense	SNP	1.000	T
STK33	65975	genome.wustl.edu	37	11	8462277	8462277	+	Missense_Mutation	SNP	C	C	T	rs144575904		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:8462277C>T	ENST00000447869.1	-	8	1813	c.895G>A	c.(895-897)Gac>Aac	p.D299N	STK33_ENST00000358872.3_Missense_Mutation_p.D112N|STK33_ENST00000534493.1_Missense_Mutation_p.D258N|STK33_ENST00000396672.1_Missense_Mutation_p.D299N|STK33_ENST00000473980.1_Intron|STK33_ENST00000396673.1_Missense_Mutation_p.D299N|STK33_ENST00000315204.1_Missense_Mutation_p.D299N			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGGCTATAGTCGTGGGCACTG	0.363																																																	0													57.0	43.0	48.0					11																	8462277		2198	4286	6484	SO:0001583	missense	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.895G>A	11.37:g.8462277C>T	ENSP00000416750:p.Asp299Asn		Q658S6|Q8NEF5	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.D299N	ENST00000447869.1	37	c.895	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473206	0.84640	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493;ENST00000524760	T;T;T;T;T;T;T;T	0.72394	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.65	5.82	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.247646	0.46758	D	0.000277	T	0.65091	0.2658	N	0.11560	0.145	0.40194	D	0.977437	D;D	0.65815	0.995;0.99	P;P	0.59825	0.828;0.864	T	0.65138	-0.6241	10	0.24483	T	0.36	.	12.9558	0.58427	0.0:0.8654:0.0:0.1346	.	258;299	B4DDH2;Q9BYT3	.;STK33_HUMAN	N	299;299;299;112;299;54;258;211	ENSP00000416750:D299N;ENSP00000320754:D299N;ENSP00000379905:D299N;ENSP00000351743:D112N;ENSP00000379906:D299N;ENSP00000415688:D54N;ENSP00000436418:D258N;ENSP00000436905:D211N	ENSP00000320754:D299N	D	-	1	0	STK33	8418853	0.999000	0.42202	0.989000	0.46669	0.995000	0.86356	3.853000	0.55941	1.471000	0.48121	0.563000	0.77884	GAC	STK33	-	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		0.363	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	C	NM_030906		8462277	-1	no_errors	ENST00000315204	ensembl	human	known	70_37	missense	SNP	0.996	T
STON1	11037	genome.wustl.edu	37	2	48808733	48808733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:48808733G>T	ENST00000406226.1	+	3	1156	c.961G>T	c.(961-963)Gag>Tag	p.E321*	STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.E321*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.E321*|STON1_ENST00000404752.1_Nonsense_Mutation_p.E321*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.E321*|STON1_ENST00000309835.3_Nonsense_Mutation_p.E321*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.E321*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.E321*	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	321	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACCATTTAAAGAGATACAGCT	0.388																																																	0													94.0	101.0	99.0					2																	48808733		2202	4300	6502	SO:0001587	stop_gained	286749			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.961G>T	2.37:g.48808733G>T	ENSP00000384615:p.Glu321*		A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Nonsense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.E321*	ENST00000406226.1	37	c.961	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.275545	0.98182	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4714	0.94965	0.0:0.0:1.0:0.0	.	.	.	.	X	321	.	ENSP00000310969:E321X	E	+	1	0	STON1-GTF2A1L;STON1	48662237	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.848000	0.86902	2.837000	0.97791	0.591000	0.81541	GAG	STON1-GTF2A1L	-	pfscan_SHD		0.388	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	G	NM_006873		48808733	+1	no_errors	ENST00000309827	ensembl	human	known	70_37	nonsense	SNP	1.000	T
STRADB	55437	genome.wustl.edu	37	2	202344746	202344746	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:202344746C>A	ENST00000194530.3	+	12	1478				STRADB_ENST00000392249.2_Missense_Mutation_p.L377I	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta						activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						TTTTGAGTTTCTTTAACAGAT	0.303																																																	0													62.0	62.0	62.0					2																	202344746		2203	4300	6503	SO:0001627	intron_variant	55437			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1114-9C>A	2.37:g.202344746C>A			Q5BKY7|Q9P1L0	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.L377I	ENST00000194530.3	37	c.1129	CCDS2348.1	2	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110991	0.56398	.	.	ENSG00000082146	ENST00000392249	T	0.61980	0.06	5.32	1.19	0.21007	.	.	.	.	.	T	0.62925	0.2468	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61515	-0.7047	6	0.87932	D	0	.	4.4608	0.11665	0.1496:0.4632:0.0:0.3872	.	.	.	.	I	377	ENSP00000376080:L377I	ENSP00000376080:L377I	L	+	1	0	STRADB	202052991	0.992000	0.36948	0.999000	0.59377	0.959000	0.62525	0.345000	0.19979	0.366000	0.24427	0.655000	0.94253	CTT	STRADB	-	superfamily_Kinase-like_dom		0.303	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	HGNC	protein_coding	OTTHUMT00000256297.1	C	NM_018571		202344746	+1	no_errors	ENST00000392249	ensembl	human	known	70_37	missense	SNP	0.996	A
STX3	6809	genome.wustl.edu	37	11	59562924	59562924	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:59562924A>C	ENST00000337979.4	+	9	1302	c.755A>C	c.(754-756)aAa>aCa	p.K252T	STX3_ENST00000437946.2_Intron|STX3_ENST00000535361.1_Intron|STX3_ENST00000529177.1_Missense_Mutation_p.K252T|STX3_ENST00000300150.7_Missense_Mutation_p.K221T	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	252	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GAAACGAAAAAAGCTGTGAAA	0.473																																																	0													111.0	92.0	98.0					11																	59562924		2201	4295	6496	SO:0001583	missense	6809			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.755A>C	11.37:g.59562924A>C	ENSP00000338562:p.Lys252Thr		B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.K252T	ENST00000337979.4	37	c.755	CCDS7975.1	11	.	.	.	.	.	.	.	.	.	.	A	18.87	3.714607	0.68730	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000529177;ENST00000530221	T;T;T;T	0.48522	1.61;1.31;0.81;1.68	5.72	-0.942	0.10398	Target SNARE coiled-coil domain (3);	0.203205	0.52532	D	0.000077	T	0.58250	0.2109	M	0.72118	2.19	0.80722	D	1	P;D	0.59767	0.545;0.986	P;D	0.72075	0.524;0.976	T	0.54282	-0.8317	10	0.54805	T	0.06	0.5225	5.7298	0.18032	0.5746:0.138:0.2873:0.0	.	252;252	B4DME0;Q13277	.;STX3_HUMAN	T	221;252;252;39	ENSP00000300150:K221T;ENSP00000338562:K252T;ENSP00000433248:K252T;ENSP00000434836:K39T	ENSP00000300150:K221T	K	+	2	0	STX3	59319500	0.995000	0.38212	0.522000	0.27862	0.997000	0.91878	1.086000	0.30853	-0.378000	0.07918	0.477000	0.44152	AAA	STX3	-	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.473	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX3	HGNC	protein_coding	OTTHUMT00000394264.1	A	NM_004177		59562924	+1	no_errors	ENST00000337979	ensembl	human	known	70_37	missense	SNP	0.998	C
STX8	9482	genome.wustl.edu	37	17	9471774	9471774	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:9471774C>T	ENST00000306357.4	-	2	458	c.31G>A	c.(31-33)Gat>Aat	p.D11N	STX8_ENST00000573373.1_5'UTR|STX8_ENST00000574431.1_Intron	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	11					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.D11N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CAAGTAGAATCGTATGTGGAG	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											125.0	101.0	109.0					17																	9471774		2203	4300	6503	SO:0001583	missense	9482			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.31G>A	17.37:g.9471774C>T	ENSP00000305255:p.Asp11Asn		O60712|Q53XT8	Missense_Mutation	SNP	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.D11N	ENST00000306357.4	37	c.31	CCDS32565.1	17	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831684	0.91036	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.71581	2.175	0.52099	D	0.999948	D	0.69078	0.997	P	0.56088	0.791	T	0.73094	-0.4091	9	0.40728	T	0.16	0.7227	16.6943	0.85330	0.0:1.0:0.0:0.0	.	11	Q9UNK0	STX8_HUMAN	N	11	.	ENSP00000305255:D11N	D	-	1	0	STX8	9412499	0.995000	0.38212	0.965000	0.40720	0.975000	0.68041	4.039000	0.57325	2.680000	0.91292	0.655000	0.94253	GAT	STX8	-	NULL		0.403	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX8	HGNC	protein_coding	OTTHUMT00000439206.3	C	NM_004853		9471774	-1	no_errors	ENST00000306357	ensembl	human	known	70_37	missense	SNP	1.000	T
STXBP4	252983	genome.wustl.edu	37	17	53120633	53120633	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:53120633G>T	ENST00000376352.2	+	11	1099	c.892G>T	c.(892-894)Gaa>Taa	p.E298*	STXBP4_ENST00000405898.1_Nonsense_Mutation_p.E298*|STXBP4_ENST00000398391.2_Nonsense_Mutation_p.E223*|STXBP4_ENST00000434978.2_Nonsense_Mutation_p.E298*|STXBP4_ENST00000299341.4_Nonsense_Mutation_p.E223*	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	298					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AGATGAAATGGAAAGGCTCAA	0.313																																																	0													73.0	69.0	70.0					17																	53120633		2203	4294	6497	SO:0001587	stop_gained	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.892G>T	17.37:g.53120633G>T	ENSP00000365530:p.Glu298*		Q8IVZ5	Nonsense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.E298*	ENST00000376352.2	37	c.892	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675224	0.88445	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	.	.	.	5.68	5.68	0.88126	.	0.145125	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.9332	15.299	0.73931	0.0:0.0:1.0:0.0	.	.	.	.	X	298;223;298;298;223	.	ENSP00000299341:E223X	E	+	1	0	STXBP4	50475632	1.000000	0.71417	0.999000	0.59377	0.485000	0.33311	3.904000	0.56325	2.683000	0.91414	0.561000	0.74099	GAA	STXBP4	-	NULL		0.313	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53120633	+1	no_errors	ENST00000376352	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SUCLG2	8801	genome.wustl.edu	37	3	67579602	67579602	+	Nonsense_Mutation	SNP	C	C	A	rs201284259		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:67579602C>A	ENST00000307227.5	-	3	262	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	SUCLG2_ENST00000492795.1_Nonsense_Mutation_p.E79*|SUCLG2_ENST00000493112.1_Nonsense_Mutation_p.E79*	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	79	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	AAAACAATTTCTTTTGCATCT	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		18675	0.0		0.0	False		,,,				2504	0.001																0													89.0	82.0	84.0					3																	67579602		1802	4073	5875	SO:0001587	stop_gained	8801			AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.235G>T	3.37:g.67579602C>A	ENSP00000307432:p.Glu79*		C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Nonsense_Mutation	SNP	pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu	p.E79*	ENST00000307227.5	37	c.235	CCDS43104.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.914423	0.97932	.	.	ENSG00000172340	ENST00000493112;ENST00000307227;ENST00000541608;ENST00000492795	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.3454	0.90319	0.0:1.0:0.0:0.0	.	.	.	.	X	79;79;31;79	.	ENSP00000307432:E79X	E	-	1	0	SUCLG2	67662292	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.737000	0.84957	2.323000	0.78572	0.460000	0.39030	GAA	SUCLG2	-	pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu		0.333	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLG2	HGNC	protein_coding	OTTHUMT00000351993.1	C	NM_003848		67579602	-1	no_errors	ENST00000307227	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SUGP2	10147	genome.wustl.edu	37	19	19136044	19136044	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:19136044A>C	ENST00000601879.1	-	3	1410	c.1113T>G	c.(1111-1113)tgT>tgG	p.C371W	SUGP2_ENST00000600377.1_Missense_Mutation_p.C385W|SUGP2_ENST00000337018.6_Missense_Mutation_p.C371W|SUGP2_ENST00000456085.2_Missense_Mutation_p.C140W|SUGP2_ENST00000452918.2_Missense_Mutation_p.C371W|SUGP2_ENST00000598202.1_5'Flank			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	371					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTTTTAAGGAACATTTGAATG	0.328																																																	0													35.0	39.0	38.0					19																	19136044		2160	4164	6324	SO:0001583	missense	10147			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1113T>G	19.37:g.19136044A>C	ENSP00000472286:p.Cys371Trp		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.C371W	ENST00000601879.1	37	c.1113	CCDS12392.1	19	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427690	0.43122	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.16324	2.51;2.51;2.51;2.35	5.16	-1.24	0.09435	.	0.000000	0.64402	D	0.000001	T	0.22898	0.0553	L	0.27053	0.805	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.996;0.956	T	0.01185	-1.1425	10	0.62326	D	0.03	-18.3905	9.7101	0.40240	0.5689:0.0:0.4311:0.0	.	140;371;371	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	W	371;371;371;140	ENSP00000337926:C371W;ENSP00000332373:C371W;ENSP00000389380:C371W;ENSP00000409603:C140W	ENSP00000332373:C371W	C	-	3	2	SUGP2	18997044	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.426000	0.21363	-0.044000	0.13491	-0.464000	0.05259	TGT	SUGP2	-	NULL		0.328	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SUGP2	HGNC	protein_coding	OTTHUMT00000464627.1	A	NM_001017392		19136044	-1	no_errors	ENST00000337018	ensembl	human	known	70_37	missense	SNP	0.994	C
SULF1	23213	genome.wustl.edu	37	8	70550804	70550804	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:70550804G>A	ENST00000260128.4	+	20	3069	c.2352G>A	c.(2350-2352)gaG>gaA	p.E784E	SULF1_ENST00000458141.2_Silent_p.E784E|SULF1_ENST00000402687.4_Silent_p.E784E|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.E784E	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	784					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGTTAATGAGACGCATAATT	0.343																																																	0													149.0	139.0	143.0					8																	70550804		2203	4300	6503	SO:0001819	synonymous_variant	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2352G>A	8.37:g.70550804G>A			Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.E784	ENST00000260128.4	37	c.2352	CCDS6204.1	8																																																																																			SULF1	-	superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.343	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	G	NM_015170		70550804	+1	no_errors	ENST00000260128	ensembl	human	known	70_37	silent	SNP	1.000	A
SUN1	23353	genome.wustl.edu	37	7	892253	892253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:892253C>T	ENST00000405266.1	+	9	994	c.970C>T	c.(970-972)Cga>Tga	p.R324*	SUN1_ENST00000425407.2_Nonsense_Mutation_p.R204*|SUN1_ENST00000452783.2_Nonsense_Mutation_p.R185*|SUN1_ENST00000389574.3_Nonsense_Mutation_p.R204*|SUN1_ENST00000456758.2_Nonsense_Mutation_p.R476*|SUN1_ENST00000413514.2_Nonsense_Mutation_p.R96*|SUN1_ENST00000401592.1_Nonsense_Mutation_p.R287*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	314					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.R204*(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGTGCCTTCGAAACATCTG	0.418																																																	1	Substitution - Nonsense(1)	large_intestine(1)											145.0	137.0	140.0					7																	892253		1855	4105	5960	SO:0001587	stop_gained	23353			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.970C>T	7.37:g.892253C>T	ENSP00000384116:p.Arg324*		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Nonsense_Mutation	SNP	pfam_RNA-bd_mt,pfam_Sad1_UNC_C	p.R476*	ENST00000405266.1	37	c.1426		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.306572|4.306572	0.81247|0.81247	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000450881;ENST00000429178;ENST00000413514|ENST00000433212	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.231863|.	0.45126|.	D|.	0.000389|.	.|T	.|0.63651	.|0.2529	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68796	.|-0.5314	.|3	0.21014|.	T|.	0.42|.	-17.9323|-17.9323	13.0845|13.0845	0.59132|0.59132	0.0:0.9261:0.0:0.0739|0.0:0.9261:0.0:0.0739	.|.	.|.	.|.	.|.	X|L	476;204;185;324;287;314;204;160;212;96|135	.|.	ENSP00000297445:R314X|.	R|S	+|+	1|2	2|0	SUN1|SUN1	858779|858779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.128000|0.128000	0.20619|0.20619	3.899000|3.899000	0.56288|0.56288	2.758000|2.758000	0.94735|0.94735	0.655000|0.655000	0.94253|0.94253	CGA|TCG	SUN1	-	pfam_RNA-bd_mt		0.418	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	SUN1	HGNC	protein_coding	OTTHUMT00000322566.1	C	NM_025154		892253	+1	no_errors	ENST00000456758	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SUSD1	64420	genome.wustl.edu	37	9	114919845	114919845	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:114919845C>A	ENST00000374270.3	-	2	324	c.152G>T	c.(151-153)aGa>aTa	p.R51I	SUSD1_ENST00000374264.2_Missense_Mutation_p.R51I|SUSD1_ENST00000374263.3_Missense_Mutation_p.R51I	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	51	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTCCCTTCTCTTTGCTGGCA	0.413																																																	0													157.0	128.0	137.0					9																	114919845		2203	4300	6503	SO:0001583	missense	64420			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.152G>T	9.37:g.114919845C>A	ENSP00000363388:p.Arg51Ile		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP	p.R51I	ENST00000374270.3	37	c.152	CCDS6783.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.630|9.630	1.136048|1.136048	0.21123|0.21123	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	.|D;D;D	.|0.87029	.|-2.2;-2.2;-2.2	5.75|5.75	-4.41|-4.41	0.03590|0.03590	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|1.207580	.|0.05965	.|N	.|0.641355	T|T	0.72882|0.72882	0.3516|0.3516	N|N	0.20881|0.20881	0.62|0.62	0.21220|0.21220	N|N	0.999752|0.999752	.|B;B;B	.|0.12630	.|0.006;0.006;0.002	.|B;B;B	.|0.10450	.|0.005;0.005;0.002	T|T	0.54289|0.54289	-0.8316|-0.8316	5|10	.|0.33141	.|T	.|0.24	0.5952|0.5952	0.9163|0.9163	0.01305|0.01305	0.2977:0.2508:0.0974:0.3541|0.2977:0.2508:0.0974:0.3541	.|.	.|51;51;51	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	N|I	34|51	.|ENSP00000363388:R51I;ENSP00000363381:R51I;ENSP00000363382:R51I	.|ENSP00000363381:R51I	K|R	-|-	3|2	2|0	SUSD1|SUSD1	113959666|113959666	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.401000|0.401000	0.30781|0.30781	-0.268000|-0.268000	0.08607|0.08607	-1.387000|-1.387000	0.02095|0.02095	-0.182000|-0.182000	0.12963|0.12963	AAG|AGA	SUSD1	-	smart_EG-like_dom,pfscan_EG-like_dom		0.413	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD1	HGNC	protein_coding	OTTHUMT00000053668.3	C	NM_022486		114919845	-1	no_errors	ENST00000374264	ensembl	human	known	70_37	missense	SNP	0.001	A
SUSD4	55061	genome.wustl.edu	37	1	223396729	223396729	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:223396729A>C	ENST00000343846.3	-	7	1939	c.1306T>G	c.(1306-1308)Tct>Gct	p.S436A	SUSD4_ENST00000366878.4_Missense_Mutation_p.S436A|SUSD4_ENST00000494793.2_Missense_Mutation_p.S436A|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Missense_Mutation_p.S367A|SUSD4_ENST00000454695.2_Missense_Mutation_p.S276A			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	436						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCTCAGAAGAGCCTGAGACG	0.612																																																	0													53.0	60.0	58.0					1																	223396729		2022	4167	6189	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1306T>G	1.37:g.223396729A>C	ENSP00000344219:p.Ser436Ala		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S436A	ENST00000343846.3	37	c.1306	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.097183	0.37048	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.34859	1.34;1.34;1.44	5.16	5.16	0.70880	.	0.136787	0.34223	N	0.004145	T	0.32285	0.0824	L	0.46157	1.445	0.80722	D	1	P	0.44006	0.824	B	0.38803	0.282	T	0.08086	-1.0739	9	.	.	.	-16.117	14.6832	0.69033	1.0:0.0:0.0:0.0	.	436	Q5VX71	SUSD4_HUMAN	A	436;436;367;276	ENSP00000344219:S436A;ENSP00000355843:S436A;ENSP00000399288:S276A	.	S	-	1	0	SUSD4	221463352	1.000000	0.71417	0.789000	0.31954	0.240000	0.25518	2.658000	0.46733	1.949000	0.56562	0.533000	0.62120	TCT	SUSD4	-	NULL		0.612	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	A	NM_017982		223396729	-1	no_errors	ENST00000343846	ensembl	human	known	70_37	missense	SNP	1.000	C
SVEP1	79987	genome.wustl.edu	37	9	113169315	113169315	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:113169315A>C	ENST00000401783.2	-	38	8901	c.8565T>G	c.(8563-8565)atT>atG	p.I2855M	SVEP1_ENST00000374469.1_Missense_Mutation_p.I2832M|SVEP1_ENST00000297826.5_Missense_Mutation_p.I781M	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2855	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGTGTATTCAATCTCTTTTT	0.522																																																	0													68.0	72.0	70.0					9																	113169315		2042	4184	6226	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8565T>G	9.37:g.113169315A>C	ENSP00000384917:p.Ile2855Met		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.I2855M	ENST00000401783.2	37	c.8565	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	A	13.47	2.248081	0.39697	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.68479	-0.33;-0.33;-0.33	5.58	3.1	0.35709	Complement control module (2);Sushi/SCR/CCP (3);	0.386774	0.28470	N	0.015222	T	0.73369	0.3578	M	0.80332	2.49	0.40861	D	0.983836	P	0.47841	0.901	P	0.51742	0.678	T	0.73767	-0.3879	10	0.72032	D	0.01	.	8.0295	0.30457	0.625:0.2435:0.0:0.1315	.	2855	Q4LDE5	SVEP1_HUMAN	M	2855;2832;781	ENSP00000384917:I2855M;ENSP00000363593:I2832M;ENSP00000297826:I781M	ENSP00000297826:I781M	I	-	3	3	SVEP1	112209136	0.016000	0.18221	0.984000	0.44739	0.988000	0.76386	-0.179000	0.09768	0.426000	0.26116	0.482000	0.46254	ATT	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.522	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		A			113169315	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	0.564	C
SVIL	6840	genome.wustl.edu	37	10	29821086	29821086	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:29821086C>T	ENST00000355867.4	-	9	2606	c.1854G>A	c.(1852-1854)gaG>gaA	p.E618E	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Silent_p.E618E	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	618					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGCCGACCTCTCCACCCGTG	0.498																																																	0													56.0	55.0	55.0					10																	29821086		2203	4300	6503	SO:0001819	synonymous_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1854G>A	10.37:g.29821086C>T			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.E618	ENST00000355867.4	37	c.1854	CCDS7164.1	10																																																																																			SVIL	-	NULL		0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	C			29821086	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	silent	SNP	1.000	T
SWI5	375757	genome.wustl.edu	37	9	131038431	131038431	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:131038431C>T	ENST00000320188.5	+	1	7	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	GOLGA2_ENST00000609374.1_5'Flank|SWI5_ENST00000495313.1_Intron|GOLGA2_ENST00000421699.2_5'Flank|SWI5_ENST00000419867.2_5'Flank|GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000418976.1_5'Flank|SWI5_ENST00000608796.1_5'Flank	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	3					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											GGCTATGCAGCGGCGTGGCCA	0.632																																																	0													50.0	59.0	56.0					9																	131038431		2046	4145	6191	SO:0001583	missense	375757			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.7C>T	9.37:g.131038431C>T	ENSP00000316609:p.Arg3Trp		Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	pfam_DNA-repair_Swi5	p.R3W	ENST00000320188.5	37	c.7	CCDS43883.1	9	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147847	0.57151	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.43	0.182	0.15077	.	.	.	.	.	T	0.11750	0.0286	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	B	0.41764	0.366	T	0.16808	-1.0390	8	0.87932	D	0	.	0.6972	0.00901	0.3218:0.3246:0.1578:0.1958	.	3	Q1ZZU3	SWI5_HUMAN	W	3	.	ENSP00000316609:R3W	R	+	1	2	SWI5	130078252	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.095000	0.03356	-0.157000	0.11059	0.650000	0.86243	CGG	SWI5	-	NULL		0.632	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SWI5	HGNC	protein_coding		C	NM_001040011		131038431	+1	no_errors	ENST00000320188	ensembl	human	known	70_37	missense	SNP	0.000	T
SPRN	503542	genome.wustl.edu	37	10	135367772	135367772	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:135367772G>T	ENST00000541506.1	-	1	141				SYCE1_ENST00000432597.2_3'UTR|SYCE1_ENST00000368517.3_3'UTR			Q5BIV9	SPRN_HUMAN	shadow of prion protein homolog (zebrafish)						protein import into nucleus (GO:0006606)	anchored component of membrane (GO:0031225)|cytosol (GO:0005829)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	nucleic acid binding (GO:0003676)						all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGGAAACAGTGCTCTGCAGTG	0.458																																																	0													182.0	140.0	154.0					10																	135367772		2203	4300	6503	SO:0001627	intron_variant	93426				CCDS53589.1	10q26.3	2011-02-09			ENSG00000203772	ENSG00000203772			16871	protein-coding gene	gene with protein product	"""hypothetical protein BC004409"""	610447				14527721	Standard	NM_001012508		Approved	Shadoo, Sprn, bA108K14.1, FLJ41197	uc001lnf.4	Q5BIV9	OTTHUMG00000019324	ENST00000541506.1:c.15+15003C>A	10.37:g.135367772G>T				RNA	SNP	-	NULL	ENST00000541506.1	37	NULL	CCDS53589.1	10																																																																																			SYCE1	-	-		0.458	SPRN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCE1	HGNC	protein_coding	OTTHUMT00000051175.2	G	NM_001012508		135367772	-1	no_errors	ENST00000479535	ensembl	human	known	70_37	rna	SNP	0.000	T
SYCE1L	100130958	genome.wustl.edu	37	16	77245136	77245136	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:77245136A>G	ENST00000378644.4	+	7	441	c.386A>G	c.(385-387)gAt>gGt	p.D129G	RP11-538I12.2_ENST00000569032.1_RNA	NM_001129979.1	NP_001123451.1	A8MT33	SYC1L_HUMAN	synaptonemal complex central element protein 1-like	129					synaptonemal complex assembly (GO:0007130)	synaptonemal complex (GO:0000795)				breast(1)|prostate(1)	2						CAGCTGGAGGATCTGATGGGC	0.562																																																	0													168.0	157.0	160.0					16																	77245136		692	1591	2283	SO:0001583	missense	100130958				CCDS45533.1	16q23.1	2009-10-06			ENSG00000205078	ENSG00000205078			37236	protein-coding gene	gene with protein product	"""meiosis-related protein"""					16328886	Standard	NM_001129979		Approved	MRP2	uc010vnh.1	A8MT33		ENST00000378644.4:c.386A>G	16.37:g.77245136A>G	ENSP00000367911:p.Asp129Gly		A6NF23	Missense_Mutation	SNP	NULL	p.D129G	ENST00000378644.4	37	c.386	CCDS45533.1	16	.	.	.	.	.	.	.	.	.	.	A	12.85	2.060333	0.36373	.	.	ENSG00000205078	ENST00000378644	T	0.32023	1.47	3.82	1.51	0.23008	.	0.170354	0.25402	U	0.030923	T	0.29850	0.0746	M	0.62723	1.935	0.09310	N	1	P	0.52061	0.95	P	0.46339	0.513	T	0.18999	-1.0319	10	0.66056	D	0.02	.	3.8292	0.08867	0.6629:0.2209:0.1162:0.0	.	129	A8MT33	SYC1L_HUMAN	G	129	ENSP00000367911:D129G	ENSP00000367911:D129G	D	+	2	0	SYCE1L	75802637	0.392000	0.25229	0.007000	0.13788	0.415000	0.31203	1.051000	0.30417	0.292000	0.22492	0.460000	0.39030	GAT	SYCE1L	-	NULL		0.562	SYCE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCE1L	HGNC	protein_coding	OTTHUMT00000433889.1	A	NM_001129979		77245136	+1	no_errors	ENST00000378644	ensembl	human	known	70_37	missense	SNP	0.011	G
SYCP2	10388	genome.wustl.edu	37	20	58489189	58489189	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:58489189C>A	ENST00000357552.3	-	11	977	c.752G>T	c.(751-753)aGa>aTa	p.R251I	SYCP2_ENST00000371001.2_Missense_Mutation_p.R251I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	251					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.R251I(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTCCTTAATTCTTTTAAATGC	0.284																																																	1	Substitution - Missense(1)	large_intestine(1)											70.0	70.0	70.0					20																	58489189		2201	4295	6496	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.752G>T	20.37:g.58489189C>A	ENSP00000350162:p.Arg251Ile		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.R251I	ENST00000357552.3	37	c.752	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068819	0.36470	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.04083	3.71;3.71;3.71	4.78	-3.17	0.05202	.	1.077370	0.07089	N	0.838392	T	0.03564	0.0102	N	0.22421	0.69	0.30609	N	0.759717	B;P	0.45348	0.34;0.856	B;B	0.37198	0.178;0.243	T	0.43393	-0.9394	10	0.56958	D	0.05	-0.1757	10.4843	0.44713	0.0:0.5106:0.0:0.4894	.	251;251	A2A341;Q9BX26	.;SYCP2_HUMAN	I	251	ENSP00000360040:R251I;ENSP00000350162:R251I;ENSP00000402456:R251I	ENSP00000350162:R251I	R	-	2	0	SYCP2	57922584	0.262000	0.24073	0.924000	0.36721	0.760000	0.43138	-0.072000	0.11486	-0.559000	0.06110	-0.136000	0.14681	AGA	SYCP2	-	NULL		0.284	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	C	NM_014258		58489189	-1	no_errors	ENST00000357552	ensembl	human	known	70_37	missense	SNP	0.924	A
SYDE2	84144	genome.wustl.edu	37	1	85665949	85665949	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:85665949C>A	ENST00000341460.5	-	1	780	c.731G>T	c.(730-732)aGa>aTa	p.R244I		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	244					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CAGCGTAATTCTTTGGTCTGG	0.522																																																	0													66.0	71.0	69.0					1																	85665949		2018	4178	6196	SO:0001583	missense	84144			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.731G>T	1.37:g.85665949C>A	ENSP00000340594:p.Arg244Ile		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R244I	ENST00000341460.5	37	c.731	CCDS44169.1	1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808372	0.50421	.	.	ENSG00000097096	ENST00000341460	T	0.09163	3.01	5.68	5.68	0.88126	.	0.263653	0.37857	N	0.001916	T	0.21145	0.0509	M	0.70595	2.14	0.53688	D	0.999976	P;D	0.57571	0.938;0.98	P;P	0.56700	0.548;0.804	T	0.00406	-1.1759	10	0.87932	D	0	.	18.5703	0.91133	0.0:1.0:0.0:0.0	.	244;244	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	I	244	ENSP00000340594:R244I	ENSP00000340594:R244I	R	-	2	0	SYDE2	85438537	0.873000	0.30073	0.985000	0.45067	0.172000	0.22775	1.532000	0.36029	2.683000	0.91414	0.561000	0.74099	AGA	SYDE2	-	NULL		0.522	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	C			85665949	-1	no_errors	ENST00000341460	ensembl	human	known	70_37	missense	SNP	0.990	A
SYNE1	23345	genome.wustl.edu	37	6	152565761	152565761	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:152565761C>A	ENST00000367255.5	-	106	20204	c.19603G>T	c.(19603-19605)Gaa>Taa	p.E6535*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E6464*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.E1059*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E6147*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E6464*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E6535*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6535					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)		GCATCAAATTCTTTGAGTCCA	0.438										HNSCC(10;0.0054)																																							0													169.0	153.0	158.0					6																	152565761		2203	4300	6503	SO:0001587	stop_gained	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.19603G>T	6.37:g.152565761C>A	ENSP00000356224:p.Glu6535*		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_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.E6535*	ENST00000367255.5	37	c.19603	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	43	10.408881	0.99400	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	5.76	5.76	0.90799	.	0.098369	0.44097	D	0.000483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.9699	0.97282	0.0:1.0:0.0:0.0	.	.	.	.	X	6535;6464;6535;6464;6147;1059	.	ENSP00000265368:E6535X	E	-	1	0	SYNE1	152607454	1.000000	0.71417	0.965000	0.40720	0.751000	0.42716	7.125000	0.77193	2.730000	0.93505	0.591000	0.81541	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152565761	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SYNE1	23345	genome.wustl.edu	37	6	152576221	152576221	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:152576221G>T	ENST00000367255.5	-	104	19865	c.19264C>A	c.(19264-19266)Ctt>Att	p.L6422I	SYNE1_ENST00000423061.1_Missense_Mutation_p.L6351I|SYNE1_ENST00000356820.4_Missense_Mutation_p.L946I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L6034I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L6351I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L6422I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6422					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)		TCTTTGGCAAGAATCTAGAGG	0.333										HNSCC(10;0.0054)																																							0													56.0	50.0	52.0					6																	152576221		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.19264C>A	6.37:g.152576221G>T	ENSP00000356224:p.Leu6422Ile		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.L6422I	ENST00000367255.5	37	c.19264	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600398	0.87055	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.70631	-0.4;-0.44;-0.5;-0.43;-0.13;1.97	5.87	5.87	0.94306	.	0.000000	0.53938	D	0.000047	D	0.82365	0.5021	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.991;0.996	T	0.82157	-0.0596	10	0.62326	D	0.03	.	20.2181	0.98305	0.0:0.0:1.0:0.0	.	6422;6422;6351	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	6422;6351;6422;6351;6034;946	ENSP00000356224:L6422I;ENSP00000396024:L6351I;ENSP00000265368:L6422I;ENSP00000390975:L6351I;ENSP00000341887:L6034I;ENSP00000349276:L946I	ENSP00000265368:L6422I	L	-	1	0	SYNE1	152617914	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.159000	0.77483	2.785000	0.95823	0.655000	0.94253	CTT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.333	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152576221	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152768678	152768678	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:152768678G>T	ENST00000367255.5	-	29	4185	c.3584C>A	c.(3583-3585)tCt>tAt	p.S1195Y	SYNE1_ENST00000423061.1_Missense_Mutation_p.S1202Y|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1185Y|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1195Y|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1195Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1261Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1202Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1195Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1195					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)	p.S1195Y(2)		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)		ATTCTCAGAAGAAACTTCTGT	0.453										HNSCC(10;0.0054)																																							2	Substitution - Missense(2)	large_intestine(2)											95.0	93.0	93.0					6																	152768678		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.3584C>A	6.37:g.152768678G>T	ENSP00000356224:p.Ser1195Tyr		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.S1195Y	ENST00000367255.5	37	c.3584	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721626	0.68959	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.9	5.9	0.94986	.	0.103731	0.43747	D	0.000536	T	0.49712	0.1573	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.996;1.0;0.998;0.996;0.998	D;D;D;D;D;D	0.74023	0.943;0.935;0.982;0.942;0.935;0.971	T	0.40961	-0.9535	10	0.44086	T	0.13	.	15.1045	0.72310	0.0:0.151:0.849:0.0	.	1178;1195;1185;1195;1195;1202	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	Y	1195;1202;1195;1202;1261;1195;1185;1195	ENSP00000356224:S1195Y;ENSP00000396024:S1202Y;ENSP00000265368:S1195Y;ENSP00000390975:S1202Y;ENSP00000341887:S1261Y;ENSP00000356222:S1195Y;ENSP00000356217:S1185Y;ENSP00000414510:S1195Y	ENSP00000265368:S1195Y	S	-	2	0	SYNE1	152810371	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.277000	0.58939	2.798000	0.96311	0.650000	0.86243	TCT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152768678	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152787212	152787212	+	Splice_Site	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:152787212G>T	ENST00000367255.5	-	17	2235	c.1634C>A	c.(1633-1635)tCt>tAt	p.S545Y	SYNE1_ENST00000466159.2_Splice_Site_p.S545Y|SYNE1_ENST00000423061.1_Splice_Site_p.S552Y|SYNE1_ENST00000367248.3_Splice_Site_p.S535Y|SYNE1_ENST00000495090.2_Splice_Site_p.S112Y|SYNE1_ENST00000367253.4_Splice_Site_p.S545Y|SYNE1_ENST00000413186.2_Splice_Site_p.S545Y|SYNE1_ENST00000341594.5_Splice_Site_p.S552Y|SYNE1_ENST00000448038.1_Splice_Site_p.S552Y|SYNE1_ENST00000265368.4_Splice_Site_p.S545Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	545					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)		TTCTATAAAAGACTAGAAAAG	0.358										HNSCC(10;0.0054)																																							0													86.0	81.0	82.0					6																	152787212		2202	4298	6500	SO:0001630	splice_region_variant	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.1633-1C>A	6.37:g.152787212G>T			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.S545Y	ENST00000367255.5	37	c.1634	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530983	0.85706	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;T;D;D	0.91577	0.61;0.61;0.52;0.61;0.73;-2.23;-2.38;-2.37;2.16;-2.67;-2.87	5.79	5.79	0.91817	.	0.218239	0.32563	N	0.005940	D	0.91553	0.7332	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D	0.69078	0.991;0.994;0.971;0.971;0.959;0.994;0.997	P;P;P;P;P;P;D	0.66351	0.801;0.804;0.812;0.807;0.784;0.804;0.943	D	0.90326	0.4348	10	0.40728	T	0.16	.	20.0222	0.97508	0.0:0.0:1.0:0.0	.	528;545;545;112;535;545;552	B3W695;Q8NF91;F5H4Q0;F5H422;F5GXQ8;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	Y	545;552;545;552;552;545;535;545;112;545;528	ENSP00000356224:S545Y;ENSP00000396024:S552Y;ENSP00000265368:S545Y;ENSP00000390975:S552Y;ENSP00000341887:S552Y;ENSP00000356222:S545Y;ENSP00000356217:S535Y;ENSP00000414510:S545Y;ENSP00000438508:S112Y;ENSP00000446021:S545Y;ENSP00000441264:S528Y	ENSP00000265368:S545Y	S	-	2	0	SYNE1	152828905	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.491000	0.60326	2.726000	0.93360	0.655000	0.94253	TCT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.358	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961	Missense_Mutation	152787212	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64449481	64449481	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:64449481G>T	ENST00000344113.4	+	17	2182	c.1970G>T	c.(1969-1971)aGa>aTa	p.R657I	SYNE2_ENST00000554584.1_Missense_Mutation_p.R657I|SYNE2_ENST00000358025.3_Missense_Mutation_p.R657I|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	657					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGAATAAAAGATGGAGAAAG	0.338																																																	0													99.0	96.0	97.0					14																	64449481		1858	4111	5969	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1970G>T	14.37:g.64449481G>T	ENSP00000341781:p.Arg657Ile		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R657I	ENST00000344113.4	37	c.1970	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097654	0.56075	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.67171	0.06;0.06;-0.25	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000008	T	0.80358	0.4608	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.98;0.991	T	0.81829	-0.0753	10	0.87932	D	0	.	12.3289	0.55028	0.0785:0.0:0.9215:0.0	.	657;657	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	657	ENSP00000350719:R657I;ENSP00000341781:R657I;ENSP00000452570:R657I	ENSP00000261678:R657I	R	+	2	0	SYNE2	63519234	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.219000	0.32479	2.767000	0.95098	0.655000	0.94253	AGA	SYNE2	-	NULL		0.338	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64449481	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64529495	64529495	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:64529495G>T	ENST00000344113.4	+	50	10306	c.10094G>T	c.(10093-10095)aGa>aTa	p.R3365I	SYNE2_ENST00000554584.1_Missense_Mutation_p.R3398I|SYNE2_ENST00000555002.1_5'Flank|SYNE2_ENST00000358025.3_Missense_Mutation_p.R3365I|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3365					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATGCTATAGAAAAATGGAA	0.338																																																	0													56.0	53.0	54.0					14																	64529495		1839	4092	5931	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10094G>T	14.37:g.64529495G>T	ENSP00000341781:p.Arg3365Ile		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R3365I	ENST00000344113.4	37	c.10094	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	9.065	0.995382	0.19043	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.50001	1.32;0.76;1.32	5.78	1.3	0.21679	.	1.128880	0.06457	N	0.728712	T	0.31827	0.0809	L	0.29908	0.895	0.09310	N	0.999992	B;B	0.20261	0.025;0.043	B;B	0.12837	0.004;0.008	T	0.31668	-0.9935	10	0.51188	T	0.08	.	0.777	0.01034	0.396:0.1801:0.2659:0.1581	.	3365;3365	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	3365;3365;3398;3398	ENSP00000350719:R3365I;ENSP00000341781:R3365I;ENSP00000452570:R3398I	ENSP00000261678:R3398I	R	+	2	0	SYNE2	63599248	0.008000	0.16893	0.000000	0.03702	0.144000	0.21451	1.096000	0.30976	0.340000	0.23745	-0.150000	0.13652	AGA	SYNE2	-	NULL		0.338	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64529495	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.000	T
SYNGAP1	8831	genome.wustl.edu	37	6	33391280	33391280	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:33391280A>T	ENST00000418600.2	+	2	195	c.94A>T	c.(94-96)Acc>Tcc	p.T32S	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.T32S|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	32					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TATGCACCGAACCCAATACGT	0.527																																																	0													262.0	227.0	239.0					6																	33391280		2203	4300	6503	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.94A>T	6.37:g.33391280A>T	ENSP00000403636:p.Thr32Ser		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.T32S	ENST00000418600.2	37	c.94	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	A	15.83	2.950484	0.53186	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372	T;T	0.16457	2.34;2.43	3.73	3.73	0.42828	Pleckstrin homology domain (1);	0.176277	0.34067	N	0.004293	T	0.04815	0.0130	N	0.22421	0.69	0.25305	N	0.989246	B;B;B	0.29955	0.171;0.263;0.003	B;B;B	0.29785	0.05;0.107;0.004	T	0.22556	-1.0213	10	0.56958	D	0.05	.	10.7354	0.46122	1.0:0.0:0.0:0.0	.	32;32;32	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	S	32	ENSP00000293748:T32S;ENSP00000403636:T32S	ENSP00000293748:T32S	T	+	1	0	SYNGAP1	33499258	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.138000	0.64795	1.706000	0.51276	0.454000	0.30748	ACC	SYNGAP1	-	smart_Pleckstrin_homology		0.527	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	A	XM_166407		33391280	+1	no_errors	ENST00000418600	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNJ1	8867	genome.wustl.edu	37	21	34072399	34072399	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:34072399A>C	ENST00000322229.7	-	3	227	c.228T>G	c.(226-228)caT>caG	p.H76Q	SYNJ1_ENST00000433931.2_Missense_Mutation_p.H115Q|SYNJ1_ENST00000382491.3_Missense_Mutation_p.H76Q|SYNJ1_ENST00000382499.2_Missense_Mutation_p.H115Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.H76Q			O43426	SYNJ1_HUMAN	synaptojanin 1	76					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGACCAGATAATGTAACATAG	0.348																																																	0													65.0	69.0	68.0					21																	34072399		2203	4300	6503	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.228T>G	21.37:g.34072399A>C	ENSP00000322234:p.His76Gln		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.H115Q	ENST00000322229.7	37	c.345	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	A	11.47	1.648070	0.29336	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236;ENST00000456084	T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.6	1.59	0.23543	Synaptojanin, N-terminal (1);	0.043250	0.85682	D	0.000000	T	0.36826	0.0981	L	0.42245	1.32	0.47778	D	0.999513	B;B;B;B;B	0.16166	0.003;0.005;0.009;0.016;0.006	B;B;B;B;B	0.15870	0.007;0.006;0.01;0.014;0.007	T	0.10776	-1.0615	10	0.23891	T	0.37	.	5.4839	0.16739	0.7101:0.114:0.0658:0.1101	.	76;115;76;76;76	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	Q	76;76;115;115;76;76;76	ENSP00000371931:H76Q;ENSP00000349903:H76Q;ENSP00000371939:H115Q;ENSP00000409667:H115Q;ENSP00000322234:H76Q;ENSP00000413649:H76Q;ENSP00000412707:H76Q	ENSP00000322234:H76Q	H	-	3	2	SYNJ1	32994270	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.770000	0.47662	0.910000	0.36722	0.477000	0.44152	CAT	SYNJ1	-	pfam_Syja_N		0.348	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		A			34072399	-1	no_errors	ENST00000433931	ensembl	human	known	70_37	missense	SNP	1.000	C
SYNPO	11346	genome.wustl.edu	37	5	149997971	149997971	+	Missense_Mutation	SNP	C	C	A	rs530718393	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:149997971C>A	ENST00000394243.1	+	2	416	c.42C>A	c.(40-42)agC>agA	p.S14R	SYNPO_ENST00000522122.1_Missense_Mutation_p.S14R	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	14					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCACCCAGCGAAGGGAGGC	0.667																																																	0													21.0	26.0	24.0					5																	149997971		692	1591	2283	SO:0001583	missense	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.42C>A	5.37:g.149997971C>A	ENSP00000377789:p.Ser14Arg		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.S14R	ENST00000394243.1	37	c.42	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881845	0.33255	.	.	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.32515	1.45;1.45	5.12	-8.29	0.01009	.	0.912783	0.09141	N	0.842883	T	0.19046	0.0457	L	0.44542	1.39	0.09310	N	0.999996	P	0.42161	0.772	B	0.38683	0.279	T	0.10989	-1.0606	10	0.72032	D	0.01	-0.134	5.7067	0.17913	0.1019:0.1724:0.1012:0.6245	.	14	Q8N3V7	SYNPO_HUMAN	R	14	ENSP00000377789:S14R;ENSP00000428378:S14R	ENSP00000377789:S14R	S	+	3	2	SYNPO	149978164	0.000000	0.05858	0.000000	0.03702	0.698000	0.40448	-3.844000	0.00352	-1.780000	0.01279	0.561000	0.74099	AGC	SYNPO	-	NULL		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	C	NM_007286		149997971	+1	no_errors	ENST00000394243	ensembl	human	known	70_37	missense	SNP	0.000	A
SYNPO2L	79933	genome.wustl.edu	37	10	75406540	75406540	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:75406540C>T	ENST00000394810.2	-	4	3019	c.2870G>A	c.(2869-2871)cGa>cAa	p.R957Q	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R733Q	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	957						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGAAAATCGGGGCCTGGC	0.642																																																	0													66.0	73.0	71.0					10																	75406540		2203	4300	6503	SO:0001583	missense	79933			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2870G>A	10.37:g.75406540C>T	ENSP00000378289:p.Arg957Gln		A5PKV9|Q68A20	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R957Q	ENST00000394810.2	37	c.2870	CCDS44438.1	10	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039066	0.55003	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.26223	1.75;2.09	4.93	3.08	0.35506	.	0.188598	0.42964	D	0.000637	T	0.18635	0.0447	L	0.27053	0.805	0.09310	N	1	P;P	0.52692	0.955;0.935	B;P	0.44623	0.267;0.455	T	0.06075	-1.0847	10	0.48119	T	0.1	-9.1123	8.11	0.30909	0.0:0.6712:0.0:0.3288	.	957;733	Q9H987;Q9H987-2	SYP2L_HUMAN;.	Q	733;957	ENSP00000361964:R733Q;ENSP00000378289:R957Q	ENSP00000361964:R733Q	R	-	2	0	SYNPO2L	75076546	0.646000	0.27295	0.179000	0.23059	0.991000	0.79684	1.589000	0.36644	0.665000	0.31066	0.561000	0.74099	CGA	SYNPO2L	-	NULL		0.642	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2	C	NM_024875		75406540	-1	no_errors	ENST00000394810	ensembl	human	known	70_37	missense	SNP	0.011	T
SYT16	83851	genome.wustl.edu	37	14	62567172	62567172	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:62567172C>T	ENST00000430451.2	+	6	1882	c.1685C>T	c.(1684-1686)aCg>aTg	p.T562M	RP11-355I22.2_ENST00000554252.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	562	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CGTTGCAAGACGTCCATTCGG	0.458																																																	0													67.0	62.0	63.0					14																	62567172		1924	4122	6046	SO:0001583	missense	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1685C>T	14.37:g.62567172C>T	ENSP00000394700:p.Thr562Met		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T562M	ENST00000430451.2	37	c.1685	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879123	0.91740	.	.	ENSG00000139973	ENST00000430451	D	0.87729	-2.29	5.61	5.61	0.85477	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96978	0.9713	10	0.87932	D	0	-0.0685	19.6373	0.95740	0.0:1.0:0.0:0.0	.	562	Q17RD7	SYT16_HUMAN	M	562	ENSP00000394700:T562M	ENSP00000394700:T562M	T	+	2	0	SYT16	61636925	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	7.461000	0.80834	2.636000	0.89361	0.655000	0.94253	ACG	SYT16	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.458	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	C	NM_031914		62567172	+1	no_errors	ENST00000430451	ensembl	human	novel	70_37	missense	SNP	1.000	T
SYTL4	94121	genome.wustl.edu	37	X	99930370	99930370	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:99930370G>T	ENST00000372989.1	-	0	3002				SYTL4_ENST00000455616.1_3'UTR|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000454200.2_3'UTR|SYTL4_ENST00000276141.6_3'UTR|RP11-524D16__A.3_ENST00000568809.1_RNA	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTCTAGTAAAGATATCTAGAA	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	94121				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.*655C>A	X.37:g.99930370G>T			Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	RNA	SNP	-	NULL	ENST00000372989.1	37	NULL	CCDS14472.1	X																																																																																			SYTL4	-	-		0.353	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1	G	NM_080737		99930370	-1	no_errors	ENST00000491602	ensembl	human	known	70_37	rna	SNP	0.000	T
SZRD1	26099	genome.wustl.edu	37	1	16714140	16714140	+	Intron	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:16714140T>C	ENST00000401088.4	+	2	226				SZRD1_ENST00000472461.1_Intron|SZRD1_ENST00000375590.3_Intron|SZRD1_ENST00000471507.1_Intron|SZRD1_ENST00000401089.3_Intron|SZRD1_ENST00000492354.1_Intron	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1																		GCATTTGGTCTCAACCCTCAA	0.493																																																	0																																										SO:0001627	intron_variant	26099			BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 144"""	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.52-3730T>C	1.37:g.16714140T>C			A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Missense_Mutation	SNP	NULL	p.L63P	ENST00000401088.4	37	c.188	CCDS44065.1	1																																																																																			SZRD1	-	NULL		0.493	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SZRD1	HGNC	protein_coding	OTTHUMT00000006283.2	T	NM_015609		16714140	+1	no_errors	ENST00000476423	ensembl	human	known	70_37	missense	SNP	0.000	C
TAAR2	9287	genome.wustl.edu	37	6	132938869	132938869	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:132938869A>G	ENST00000367931.1	-	2	475	c.476T>C	c.(475-477)gTc>gCc	p.V159A	TAAR2_ENST00000537809.1_Missense_Mutation_p.V114A|TAAR2_ENST00000275191.2_Missense_Mutation_p.V114A			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	159					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TCTTTTAATGACTGGAATAGT	0.408																																																	0													60.0	61.0	61.0					6																	132938869		2203	4300	6503	SO:0001583	missense	9287			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.476T>C	6.37:g.132938869A>G	ENSP00000356908:p.Val159Ala		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.V159A	ENST00000367931.1	37	c.476	CCDS34541.1	6	.	.	.	.	.	.	.	.	.	.	A	3.825	-0.036974	0.07497	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.38240	1.15;1.15;1.15	6.0	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.148678	0.43110	D	0.000612	T	0.16854	0.0405	L	0.58925	1.835	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.17107	-1.0380	10	0.45353	T	0.12	-30.4214	10.4118	0.44299	0.8102:0.0:0.1898:0.0	.	159	Q9P1P5	TAAR2_HUMAN	A	114;159;114	ENSP00000275191:V114A;ENSP00000356908:V159A;ENSP00000441263:V114A	ENSP00000275191:V114A	V	-	2	0	TAAR2	132980562	0.000000	0.05858	0.102000	0.21198	0.112000	0.19704	0.714000	0.25808	1.092000	0.41356	0.528000	0.53228	GTC	TAAR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.408	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	HGNC	protein_coding	OTTHUMT00000390735.1	A	NM_014626		132938869	-1	no_errors	ENST00000367931	ensembl	human	known	70_37	missense	SNP	0.050	G
TAAR8	83551	genome.wustl.edu	37	6	132874749	132874749	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:132874749T>C	ENST00000275200.1	+	1	918	c.918T>C	c.(916-918)aaT>aaC	p.N306N		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	306					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CAGCCATGAATCCTTTGATTT	0.333																																																	0													130.0	135.0	133.0					6																	132874749		2203	4300	6503	SO:0001819	synonymous_variant	83551			AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.918T>C	6.37:g.132874749T>C			Q5VUQ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.N306	ENST00000275200.1	37	c.918	CCDS5154.1	6																																																																																			TAAR8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.333	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR8	HGNC	protein_coding	OTTHUMT00000042262.1	T	NM_053278		132874749	+1	no_errors	ENST00000275200	ensembl	human	known	70_37	silent	SNP	0.538	C
TAAR2	9287	genome.wustl.edu	37	6	132939229	132939229	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:132939229G>T	ENST00000367931.1	-	2	115	c.116C>A	c.(115-117)tCt>tAt	p.S39Y	TAAR2_ENST00000537809.1_5'UTR|TAAR2_ENST00000275191.2_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	39					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GACACCCAGAGATCTTTCATT	0.333																																																	0													71.0	74.0	73.0					6																	132939229		2203	4300	6503	SO:0001583	missense	9287			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.116C>A	6.37:g.132939229G>T	ENSP00000356908:p.Ser39Tyr		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.S39Y	ENST00000367931.1	37	c.116	CCDS34541.1	6	.	.	.	.	.	.	.	.	.	.	G	4.145	0.025197	0.08054	.	.	ENSG00000146378	ENST00000367931	T	0.39229	1.09	5.5	5.5	0.81552	.	0.357838	0.26715	N	0.022870	T	0.30355	0.0762	L	0.50333	1.59	0.54753	D	0.999989	P	0.35208	0.49	B	0.32624	0.149	T	0.26018	-1.0115	10	0.72032	D	0.01	-0.4312	19.3522	0.94393	0.0:0.0:1.0:0.0	.	39	Q9P1P5	TAAR2_HUMAN	Y	39	ENSP00000356908:S39Y	ENSP00000356908:S39Y	S	-	2	0	TAAR2	132980922	0.467000	0.25831	0.006000	0.13384	0.032000	0.12392	3.547000	0.53663	2.740000	0.93945	0.650000	0.86243	TCT	TAAR2	-	NULL		0.333	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	HGNC	protein_coding	OTTHUMT00000390735.1	G	NM_014626		132939229	-1	no_errors	ENST00000367931	ensembl	human	known	70_37	missense	SNP	0.020	T
TACC1	6867	genome.wustl.edu	37	8	38684717	38684717	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:38684717A>C	ENST00000317827.4	+	5	1863	c.1484A>C	c.(1483-1485)gAc>gCc	p.D495A	TACC1_ENST00000519416.1_Missense_Mutation_p.D299A|TACC1_ENST00000348567.4_Missense_Mutation_p.D57A|TACC1_ENST00000520973.1_Missense_Mutation_p.D300A|TACC1_ENST00000443286.2_Missense_Mutation_p.D511A|TACC1_ENST00000276520.8_Missense_Mutation_p.D85A|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.D459A|TACC1_ENST00000379931.3_Missense_Mutation_p.D507A|TACC1_ENST00000520615.1_Missense_Mutation_p.D300A|TACC1_ENST00000330691.6_Missense_Mutation_p.D69A|TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000518415.1_Missense_Mutation_p.D450A	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	495	SPAZ 2.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAGATTTCAGACATTTCTAAT	0.498																																																	0													145.0	122.0	130.0					8																	38684717		2203	4300	6503	SO:0001583	missense	6867			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1484A>C	8.37:g.38684717A>C	ENSP00000321703:p.Asp495Ala		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	pfam_TACC	p.D507A	ENST00000317827.4	37	c.1520	CCDS6109.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.27|13.27	2.186923|2.186923	0.38609|0.38609	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000521642;ENST00000521050;ENST00000522904;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973|ENST00000521866;ENST00000518809	T;T;T;T;T;T;T;T;T;T;T|.	0.47177|.	2.87;2.88;3.03;3.03;2.86;0.89;0.86;3.05;3.05;0.85;2.87|.	5.53|5.53	4.38|4.38	0.52667|0.52667	.|.	0.178711|.	0.48767|.	D|.	0.000170|.	T|T	0.46073|0.46073	0.1374|0.1374	M|M	0.67953|0.67953	2.075|2.075	0.24394|0.24394	N|N	0.994736|0.994736	P;B;B;B;B;B;B;B;B;B;B|.	0.38473|.	0.633;0.074;0.074;0.038;0.227;0.232;0.002;0.008;0.002;0.058;0.197|.	B;B;B;B;B;B;B;B;B;B;B|.	0.43360|.	0.417;0.031;0.021;0.01;0.114;0.043;0.006;0.005;0.004;0.012;0.046|.	T|T	0.41805|0.41805	-0.9488|-0.9488	10|5	0.56958|.	D|.	0.05|.	-3.7009|-3.7009	5.7861|5.7861	0.18334|0.18334	0.7082:0.1425:0.1493:0.0|0.7082:0.1425:0.1493:0.0	.|.	300;300;300;511;507;495;57;85;69;299;450|.	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-5;O75410-6;O75410-4;E7ET87;O75410-7|.	.;.;.;.;.;TACC1_HUMAN;.;.;.;.;.|.	A|P	299;300;300;511;450;57;69;467;69;57;495;507;85;300|282;145	ENSP00000428687:D299A;ENSP00000428450:D300A;ENSP00000393647:D511A;ENSP00000428706:D450A;ENSP00000430355:D467A;ENSP00000332794:D69A;ENSP00000327818:D57A;ENSP00000321703:D495A;ENSP00000369263:D507A;ENSP00000276520:D85A;ENSP00000430959:D300A|.	ENSP00000276520:D85A|.	D|T	+|+	2|1	0|0	TACC1|TACC1	38803874|38803874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.310000|3.310000	0.51911|0.51911	1.032000|1.032000	0.39892|0.39892	0.533000|0.533000	0.62120|0.62120	GAC|ACA	TACC1	-	NULL		0.498	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1	A	NM_006283		38684717	+1	no_errors	ENST00000379931	ensembl	human	known	70_37	missense	SNP	0.997	C
TAF1	6872	genome.wustl.edu	37	X	70597014	70597014	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:70597014A>C	ENST00000373790.4	+	5	735	c.684A>C	c.(682-684)gaA>gaC	p.E228D	TAF1_ENST00000449580.1_Missense_Mutation_p.E228D|TAF1_ENST00000423759.1_Missense_Mutation_p.E249D|TAF1_ENST00000276072.3_Missense_Mutation_p.E249D	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	228	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTGTCACAGAACTTTTTCCAG	0.443																																																	0													97.0	78.0	84.0					X																	70597014		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.684A>C	X.37:g.70597014A>C	ENSP00000362895:p.Glu228Asp		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E228D	ENST00000373790.4	37	c.684	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	16.02	3.003904	0.54254	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10763	2.84;2.91;2.91;2.86	5.53	3.13	0.36017	.	0.049498	0.85682	D	0.000000	T	0.09379	0.0231	L	0.49350	1.555	0.52501	D	0.999959	B;B	0.16802	0.011;0.019	B;B	0.17979	0.009;0.02	T	0.15492	-1.0435	10	0.29301	T	0.29	.	5.4159	0.16374	0.5651:0.0:0.4349:0.0	.	228;249	P21675;P21675-2	TAF1_HUMAN;.	D	228;228;249;249	ENSP00000362895:E228D;ENSP00000389000:E228D;ENSP00000406549:E249D;ENSP00000276072:E249D	ENSP00000276072:E249D	E	+	3	2	TAF1	70513739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.321000	0.43805	0.833000	0.34828	0.430000	0.28490	GAA	TAF1	-	pirsf_TAF1_animal		0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	A	NM_004606		70597014	+1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	C
TAF1L	138474	genome.wustl.edu	37	9	32630671	32630671	+	Missense_Mutation	SNP	T	T	C	rs547706504		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:32630671T>C	ENST00000242310.4	-	1	4996	c.4907A>G	c.(4906-4908)gAt>gGt	p.D1636G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1636					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGTACAAATATCCTTCTCAAG	0.448																																																	0													145.0	142.0	143.0					9																	32630671		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4907A>G	9.37:g.32630671T>C	ENSP00000418379:p.Asp1636Gly		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.D1636G	ENST00000242310.4	37	c.4907	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	T	15.84	2.953391	0.53293	.	.	ENSG00000122728	ENST00000242310	T	0.44482	0.92	0.479	0.479	0.16796	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	M	0.62723	1.935	0.53005	D	0.999966	D	0.57899	0.981	P	0.55923	0.787	T	0.43245	-0.9403	10	0.66056	D	0.02	.	5.1959	0.15236	0.0:1.0E-4:0.0:0.9999	.	1636	Q8IZX4	TAF1L_HUMAN	G	1636	ENSP00000418379:D1636G	ENSP00000418379:D1636G	D	-	2	0	TAF1L	32620671	1.000000	0.71417	0.995000	0.50966	0.674000	0.39518	4.845000	0.62853	0.426000	0.26116	0.164000	0.16699	GAT	TAF1L	-	pirsf_TAF1_animal,superfamily_Bromodomain		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	T			32630671	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	C
TAF1L	138474	genome.wustl.edu	37	9	32633243	32633243	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:32633243T>G	ENST00000242310.4	-	1	2424	c.2335A>C	c.(2335-2337)Act>Cct	p.T779P	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	779					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGAAAATCAGTTTCTGGCATC	0.443																																																	0													199.0	195.0	197.0					9																	32633243		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2335A>C	9.37:g.32633243T>G	ENSP00000418379:p.Thr779Pro		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.T779P	ENST00000242310.4	37	c.2335	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	T	7.764	0.705961	0.15172	.	.	ENSG00000122728	ENST00000242310	T	0.25749	1.78	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.193313	0.53938	D	0.000043	T	0.51890	0.1701	M	0.94101	3.495	0.37639	D	0.921967	P	0.52577	0.954	D	0.63793	0.918	T	0.58177	-0.7682	10	0.87932	D	0	.	6.1457	0.20285	0.0:0.0:0.0:1.0	.	779	Q8IZX4	TAF1L_HUMAN	P	779	ENSP00000418379:T779P	ENSP00000418379:T779P	T	-	1	0	TAF1L	32623243	1.000000	0.71417	0.749000	0.31150	0.372000	0.29890	3.455000	0.52993	0.530000	0.28619	0.164000	0.16699	ACT	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.443	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	T			32633243	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	G
TAF5	6877	genome.wustl.edu	37	10	105141587	105141587	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:105141587A>T	ENST00000369839.3	+	6	1546	c.1523A>T	c.(1522-1524)aAa>aTa	p.K508I	TAF5_ENST00000351396.4_Missense_Mutation_p.K508I	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	508					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CGTAGTGTCAAACAAGCATCA	0.418																																																	0													160.0	146.0	151.0					10																	105141587		2203	4300	6503	SO:0001583	missense	6877			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1523A>T	10.37:g.105141587A>T	ENSP00000358854:p.Lys508Ile		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K508I	ENST00000369839.3	37	c.1523	CCDS7547.1	10	.	.	.	.	.	.	.	.	.	.	A	27.3	4.821982	0.90873	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.81330	0.46;-1.48	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87501	0.6193	L	0.61218	1.895	0.80722	D	1	D;D	0.61697	0.99;0.976	D;P	0.64410	0.925;0.694	D	0.88251	0.2916	10	0.59425	D	0.04	-13.4483	15.97	0.80008	1.0:0.0:0.0:0.0	.	508;508	Q15542-2;Q15542	.;TAF5_HUMAN	I	508	ENSP00000358854:K508I;ENSP00000311024:K508I	ENSP00000311024:K508I	K	+	2	0	TAF5	105131577	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.189000	0.69895	0.459000	0.35465	AAA	TAF5	-	superfamily_WD40_repeat_dom		0.418	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5	HGNC	protein_coding	OTTHUMT00000050144.1	A			105141587	+1	no_errors	ENST00000369839	ensembl	human	known	70_37	missense	SNP	1.000	T
TAGAP	117289	genome.wustl.edu	37	6	159457048	159457048	+	Missense_Mutation	SNP	C	C	A	rs200804434		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:159457048C>A	ENST00000367066.3	-	10	2338	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.Q491H|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	669					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CAGTTCTGCTCTGTTTCCATC	0.622																																																	0													89.0	80.0	83.0					6																	159457048		2203	4300	6503	SO:0001583	missense	117289			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2007G>T	6.37:g.159457048C>A	ENSP00000356033:p.Gln669His		Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q669H	ENST00000367066.3	37	c.2007	CCDS5261.1	6	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258692	0.23051	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.18657	2.2;2.45	5.2	-2.58	0.06228	.	1.214920	0.05670	N	0.588520	T	0.05364	0.0142	L	0.43701	1.375	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.40739	-0.9547	10	0.31617	T	0.26	-1.6634	5.9947	0.19487	0.0:0.3504:0.3539:0.2956	.	669	Q8N103	TAGAP_HUMAN	H	669;491	ENSP00000356033:Q669H;ENSP00000322650:Q491H	ENSP00000322650:Q491H	Q	-	3	2	TAGAP	159377036	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.271000	0.08572	-0.658000	0.05366	0.563000	0.77884	CAG	TAGAP	-	NULL		0.622	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	C	NM_054114		159457048	-1	no_errors	ENST00000367066	ensembl	human	known	70_37	missense	SNP	0.004	A
TAGLN3	29114	genome.wustl.edu	37	3	111719696	111719696	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:111719696T>G	ENST00000393917.2	+	3	810	c.258T>G	c.(256-258)gcT>gcG	p.A86A	TAGLN3_ENST00000478951.1_Silent_p.A86A|TAGLN3_ENST00000273368.4_Silent_p.A86A|TAGLN3_ENST00000455401.2_Silent_p.A86A|TAGLN3_ENST00000486460.1_Silent_p.A2A	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	86	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						CAAAGATGGCTTTTAAGCAGA	0.488																																																	0													178.0	180.0	179.0					3																	111719696		2203	4300	6503	SO:0001819	synonymous_variant	29114			AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.258T>G	3.37:g.111719696T>G			D3DN64|Q96A74	Silent	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin	p.A86	ENST00000393917.2	37	c.258	CCDS33816.1	3																																																																																			TAGLN3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.488	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN3	HGNC	protein_coding	OTTHUMT00000354331.1	T	NM_013259		111719696	+1	no_errors	ENST00000273368	ensembl	human	known	70_37	silent	SNP	1.000	G
TAP2	6891	genome.wustl.edu	37	6	32800468	32800468	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:32800468T>G	ENST00000452392.2	-	6	1252	c.1079A>C	c.(1078-1080)gAa>gCa	p.E360A	TAP2_ENST00000485701.1_5'UTR|TAP2_ENST00000374897.2_Missense_Mutation_p.E360A|TAP2_ENST00000374899.4_Missense_Mutation_p.E360A			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	CCGACATTGTTCAAGGGCCTC	0.587																																																	0													129.0	111.0	118.0					6																	32800468		1510	2708	4218	SO:0001583	missense	6891			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1079A>C	6.37:g.32800468T>G	ENSP00000391806:p.Glu360Ala		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2	p.E360A	ENST00000452392.2	37	c.1079		6	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495153	0.64186	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.90504	-2.68;-2.68;-2.68	4.96	4.96	0.65561	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.48767	D	0.000170	D	0.91496	0.7315	M	0.87682	2.9	0.26886	N	0.967421	B;P;P;P	0.46621	0.392;0.881;0.881;0.881	B;P;P;P	0.50192	0.262;0.634;0.634;0.634	D	0.91800	0.5451	9	0.40728	T	0.16	-35.1287	12.6192	0.56594	0.0:0.0:0.0:1.0	.	360;361;360;360	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	A	360	ENSP00000364034:E360A;ENSP00000364032:E360A;ENSP00000391806:E360A	ENSP00000364032:E360A	E	-	2	0	XXbac-BPG246D15.9;TAP2	32908446	0.107000	0.21998	0.994000	0.49952	0.139000	0.21198	2.126000	0.42026	2.078000	0.62432	0.391000	0.25812	GAA	TAP2	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_ABC_B3,tigrfam_Ag_transporter2		0.587	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	TAP2	HGNC	protein_coding	OTTHUMT00000361828.1	T	NM_000544		32800468	-1	no_errors	ENST00000374897	ensembl	human	known	70_37	missense	SNP	0.988	G
ZBTB22	9278	genome.wustl.edu	37	6	33281019	33281019	+	IGR	SNP	C	C	A	rs4077083		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:33281019C>A	ENST00000431845.2	-	0	2651				TAPBP_ENST00000426633.2_Missense_Mutation_p.E148D|TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000456592.2_Missense_Mutation_p.E148D|TAPBP_ENST00000475304.1_Missense_Mutation_p.E148D|TAPBP_ENST00000434618.2_Missense_Mutation_p.E148D	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGAGAACAGGCTCCTGCTGAG	0.617																																																	0													61.0	64.0	63.0					6																	33281019		2203	4300	6503	SO:0001628	intergenic_variant	6892			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		6.37:g.33281019C>A			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.E148D	ENST00000431845.2	37	c.444	CCDS4775.1	6	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174693	0.38413	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000437741;ENST00000467025	T;T;T;T	0.34472	1.4;2.55;1.36;1.4	4.3	1.49	0.22878	.	1.031310	0.07760	N	0.949883	T	0.28167	0.0695	M	0.74881	2.28	0.29132	N	0.879597	P;D;P;P;P	0.63880	0.613;0.993;0.828;0.828;0.736	B;P;B;B;B	0.54629	0.117;0.757;0.163;0.163;0.079	T	0.06826	-1.0805	10	0.26408	T	0.33	3.9705	3.6853	0.08326	0.1935:0.5974:0.0:0.2092	.	148;148;148;148;148	G5E9H8;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;TPSN_HUMAN	D	148;148;148;148;148;148;91	ENSP00000395701:E148D;ENSP00000417949:E148D;ENSP00000404833:E148D;ENSP00000387803:E148D	ENSP00000404833:E148D	E	-	3	2	TAPBP	33388997	0.039000	0.19947	0.789000	0.31954	0.898000	0.52572	-0.272000	0.08560	0.098000	0.17522	0.544000	0.68410	GAG	TAPBP	-	NULL		0.617	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000076183.2	C			33281019	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	missense	SNP	0.917	A
TARSL2	123283	genome.wustl.edu	37	15	102197161	102197161	+	Nonsense_Mutation	SNP	G	G	A	rs373605221		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:102197161G>A	ENST00000335968.3	-	18	2440	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	742					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.R742*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTGCATTTCGTATTTTCTTA	0.318																																																	1	Substitution - Nonsense(1)	large_intestine(1)						G	stop/ARG	0,4406		0,0,2203	98.0	90.0	93.0		2224	4.5	1.0	15		93	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	TARSL2	NM_152334.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		742/803	102197161	1,13005	2203	4300	6503	SO:0001587	stop_gained	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.2224C>T	15.37:g.102197161G>A	ENSP00000338093:p.Arg742*		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Nonsense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.R742*	ENST00000335968.3	37	c.2224	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.315520	0.98207	0.0	1.16E-4	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.41	4.48	0.54585	.	0.132704	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0581	13.205	0.59790	0.0:0.0:0.8393:0.1607	.	.	.	.	X	742;647;742	.	ENSP00000329291:R647X	R	-	1	2	TARSL2	100014684	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	0.626000	0.24492	1.266000	0.44231	0.491000	0.48974	CGA	TARSL2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa		0.318	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	G	NM_152334		102197161	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TAS2R16	50833	genome.wustl.edu	37	7	122635279	122635279	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:122635279G>A	ENST00000249284.2	-	1	475	c.410C>T	c.(409-411)aCt>aTt	p.T137I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	137					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTTACACAAGTAATCATCAG	0.408																																																	0													125.0	120.0	122.0					7																	122635279		2203	4300	6503	SO:0001583	missense	50833			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.410C>T	7.37:g.122635279G>A	ENSP00000249284:p.Thr137Ile		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.T137I	ENST00000249284.2	37	c.410	CCDS5785.1	7	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538853	0.27475	.	.	ENSG00000128519	ENST00000249284	T	0.38240	1.15	4.56	2.71	0.32032	.	0.570520	0.16445	N	0.214137	T	0.25754	0.0627	L	0.44542	1.39	0.09310	N	1	P	0.47302	0.893	B	0.38225	0.268	T	0.12372	-1.0550	10	0.52906	T	0.07	.	6.2297	0.20728	0.1017:0.1887:0.7095:0.0	.	137	Q9NYV7	T2R16_HUMAN	I	137	ENSP00000249284:T137I	ENSP00000249284:T137I	T	-	2	0	TAS2R16	122422515	0.113000	0.22115	0.009000	0.14445	0.014000	0.08584	1.855000	0.39378	0.635000	0.30488	0.655000	0.94253	ACT	TAS2R16	-	pfam_TAS2_rcpt		0.408	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R16	HGNC	protein_coding	OTTHUMT00000347409.1	G	NM_016945		122635279	-1	no_errors	ENST00000249284	ensembl	human	known	70_37	missense	SNP	0.006	A
TBC1D22A	25771	genome.wustl.edu	37	22	47287219	47287219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:47287219G>T	ENST00000337137.4	+	6	932	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	TBC1D22A_ENST00000407381.3_Nonsense_Mutation_p.E197*|TBC1D22A_ENST00000406733.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000355704.3_Nonsense_Mutation_p.E178*|TBC1D22A_ENST00000380995.1_Nonsense_Mutation_p.E209*	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	256	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AAAACAAAAAGAATATTTTGC	0.398																																																	0													88.0	91.0	90.0					22																	47287219		2203	4300	6503	SO:0001587	stop_gained	25771			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.766G>T	22.37:g.47287219G>T	ENSP00000336724:p.Glu256*		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E256*	ENST00000337137.4	37	c.766	CCDS14078.1	22	.	.	.	.	.	.	.	.	.	.	G	40	8.516893	0.98845	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.1203	0.72438	0.0:0.0:1.0:0.0	.	.	.	.	X	256;209;197;178;209	.	ENSP00000336724:E256X	E	+	1	0	TBC1D22A	45665883	1.000000	0.71417	0.713000	0.30519	0.987000	0.75469	8.227000	0.89787	2.415000	0.81967	0.557000	0.71058	GAA	TBC1D22A	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.398	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22A	HGNC	protein_coding	OTTHUMT00000317600.3	G	NM_014346		47287219	+1	no_errors	ENST00000337137	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TBC1D22B	55633	genome.wustl.edu	37	6	37247081	37247081	+	Splice_Site	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:37247081T>C	ENST00000373491.3	+	3	261	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	39							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TTCTTGAAGTTTCATTAAAGA	0.378																																																	0													98.0	96.0	96.0					6																	37247081		2203	4300	6503	SO:0001630	splice_region_variant	55633			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.114-1T>C	6.37:g.37247081T>C			A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F39L	ENST00000373491.3	37	c.115	CCDS4832.1	6	.	.	.	.	.	.	.	.	.	.	T	0.837	-0.743182	0.03088	.	.	ENSG00000065491	ENST00000373491	D	0.88124	-2.34	5.54	5.54	0.83059	.	0.170265	0.53938	D	0.000047	T	0.62332	0.2419	N	0.12569	0.235	0.42214	D	0.991828	B	0.02656	0.0	B	0.04013	0.001	T	0.61594	-0.7031	10	0.11182	T	0.66	.	14.9383	0.70975	0.0:0.0:0.0:1.0	.	39	Q9NU19	TB22B_HUMAN	L	39	ENSP00000362590:F39L	ENSP00000362590:F39L	F	+	1	0	TBC1D22B	37355059	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	2.965000	0.49200	2.223000	0.72356	0.460000	0.39030	TTC	TBC1D22B	-	NULL		0.378	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22B	HGNC	protein_coding	OTTHUMT00000040402.1	T	NM_017772	Missense_Mutation	37247081	+1	no_errors	ENST00000373491	ensembl	human	known	70_37	missense	SNP	1.000	C
TBC1D25	4943	genome.wustl.edu	37	X	48417641	48417641	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48417641T>C	ENST00000376771.4	+	5	953	c.612T>C	c.(610-612)ttT>ttC	p.F204F	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	204					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ATGCTGAGTTTCACACGTACC	0.592																																																	0													102.0	75.0	84.0					X																	48417641		2203	4300	6503	SO:0001819	synonymous_variant	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.612T>C	X.37:g.48417641T>C			Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F204	ENST00000376771.4	37	c.612	CCDS35242.1	X																																																																																			TBC1D25	-	superfamily_Rab-GTPase-TBC_dom		0.592	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	T	NM_002536		48417641	+1	no_errors	ENST00000376771	ensembl	human	known	70_37	silent	SNP	1.000	C
TBC1D2B	23102	genome.wustl.edu	37	15	78346325	78346325	+	Intron	SNP	C	C	T	rs561110439		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:78346325C>T	ENST00000300584.3	-	2	514				TBC1D2B_ENST00000409931.3_Intron	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B								Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TATGTGGTATCGAATGGCTTA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		23969	0.0		0.0	False		,,,				2504	0.001																0													28.0	25.0	26.0					15																	78346325		1320	2302	3622	SO:0001627	intron_variant	23102			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.514+50G>A	15.37:g.78346325C>T			A7MD42|Q8N1F9|Q9NXM0	RNA	SNP	-	NULL	ENST00000300584.3	37	NULL	CCDS45314.1	15																																																																																			TBC1D2B	-	-		0.423	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	C	NM_015079		78346325	-1	no_errors	ENST00000482562	ensembl	human	known	70_37	rna	SNP	0.000	T
TBC1D8B	54885	genome.wustl.edu	37	X	106066571	106066571	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:106066571T>G	ENST00000357242.5	+	5	876	c.702T>G	c.(700-702)ttT>ttG	p.F234L	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.F234L|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.F234L|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.F234L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	234							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTCAATGTTTTTGCACATTA	0.373																																																	0													121.0	107.0	112.0					X																	106066571		2203	4300	6503	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.702T>G	X.37:g.106066571T>G	ENSP00000349781:p.Phe234Leu		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.F234L	ENST00000357242.5	37	c.702	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	T	13.63	2.295295	0.40594	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.36520	2.44;1.85;1.25;2.45	5.73	4.46	0.54185	.	0.065314	0.64402	D	0.000005	T	0.23611	0.0571	N	0.25201	0.72	0.46874	D	0.999236	B;B;B	0.20988	0.007;0.05;0.007	B;B;B	0.23574	0.004;0.047;0.004	T	0.04885	-1.0920	10	0.30854	T	0.27	-19.7556	8.2291	0.31587	0.0:0.1204:0.0:0.8796	.	234;234;234	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	L	234	ENSP00000349781:F234L;ENSP00000310675:F234L;ENSP00000421375:F234L;ENSP00000276175:F234L	ENSP00000276175:F234L	F	+	3	2	TBC1D8B	105953227	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.662000	0.46766	0.659000	0.30945	0.481000	0.45027	TTT	TBC1D8B	-	NULL		0.373	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	T	NM_017752		106066571	+1	no_errors	ENST00000357242	ensembl	human	known	70_37	missense	SNP	1.000	G
TBC1D8B	54885	genome.wustl.edu	37	X	106070569	106070569	+	Splice_Site	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:106070569T>G	ENST00000357242.5	+	7	1377		c.e7+2		TBC1D8B_ENST00000310452.2_Splice_Site|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.V402G|TBC1D8B_ENST00000276175.3_Splice_Site	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)								calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCACAGAGGTAATTAATTAT	0.373																																																	0													61.0	62.0	62.0					X																	106070569		2203	4299	6502	SO:0001630	splice_region_variant	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1203+2T>G	X.37:g.106070569T>G			B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Splice_Site	SNP	-	e7+2	ENST00000357242.5	37	c.1203+2	CCDS14522.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	12.38|12.38	1.920662|1.920662	0.33908|0.33908	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175|ENST00000481617	.|T	.|0.25085	.|1.82	0.207|0.207	0.207|0.207	0.15214|0.15214	.|.	.|.	.|.	.|.	.|.	.|T	.|0.14313	.|0.0346	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.26318	.|0.146	.|B	.|0.19148	.|0.024	.|T	.|0.12451	.|-1.0547	.|6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|402	.|D6RFZ2	.|.	.|G	-1|402	.|ENSP00000421375:V402G	.|.	.|V	+|+	.|2	.|0	TBC1D8B|TBC1D8B	105957225|105957225	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.564000|0.564000	0.35744|0.35744	0.297000|0.297000	0.19101|0.19101	0.234000|0.234000	0.21139|0.21139	0.231000|0.231000	0.17811|0.17811	.|GTA	TBC1D8B	-	-		0.373	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	T	NM_017752	Intron	106070569	+1	no_errors	ENST00000357242	ensembl	human	known	70_37	splice_site	SNP	1.000	G
TBC1D9B	23061	genome.wustl.edu	37	5	179315238	179315238	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:179315238C>A	ENST00000356834.3	-	7	1156	c.1119G>T	c.(1117-1119)atG>atT	p.M373I	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.M373I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	373						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGAATGTCATTTTGCTTT	0.507																																																	0													132.0	128.0	130.0					5																	179315238		2203	4300	6503	SO:0001583	missense	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1119G>T	5.37:g.179315238C>A	ENSP00000349291:p.Met373Ile		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.M373I	ENST00000356834.3	37	c.1119	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390304	0.62066	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.09817	2.94;3.03	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.20251	0.0487	M	0.82630	2.6	0.80722	D	1	B;B;B	0.30281	0.275;0.234;0.151	B;B;B	0.31245	0.118;0.126;0.118	T	0.03706	-1.1011	10	0.34782	T	0.22	-39.3104	18.1169	0.89559	0.0:1.0:0.0:0.0	.	373;373;373	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	I	373	ENSP00000349291:M373I;ENSP00000347375:M373I	ENSP00000347375:M373I	M	-	3	0	TBC1D9B	179247844	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.755000	0.68750	2.511000	0.84671	0.491000	0.48974	ATG	TBC1D9B	-	NULL		0.507	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	C	NM_015043		179315238	-1	no_errors	ENST00000356834	ensembl	human	known	70_37	missense	SNP	1.000	A
TBL1XR1	79718	genome.wustl.edu	37	3	176750766	176750766	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:176750766T>G	ENST00000430069.1	-	14	1668	c.1409A>C	c.(1408-1410)aAc>aCc	p.N470T	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.N470T			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	470					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|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)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TACCTGCGTGTTCCAGATGTG	0.418																																																	0													89.0	85.0	86.0					3																	176750766		1915	4148	6063	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1409A>C	3.37:g.176750766T>G	ENSP00000405574:p.Asn470Thr		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N470T	ENST00000430069.1	37	c.1409	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959334	0.74016	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.61274	0.12;0.12	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55337	0.1914	L	0.38649	1.16	0.80722	D	1	B	0.26547	0.152	B	0.36766	0.232	T	0.57510	-0.7799	10	0.72032	D	0.01	-6.8039	15.0783	0.72093	0.0:0.0:0.0:1.0	.	470	Q9BZK7	TBL1R_HUMAN	T	470;470;332	ENSP00000405574:N470T;ENSP00000413251:N470T	ENSP00000405574:N470T	N	-	2	0	TBL1XR1	178233460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	2.153000	0.67306	0.533000	0.62120	AAC	TBL1XR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.418	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	T	NM_024665		176750766	-1	no_errors	ENST00000430069	ensembl	human	known	70_37	missense	SNP	1.000	G
TBL1XR1	79718	genome.wustl.edu	37	3	176763937	176763937	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:176763937T>G	ENST00000430069.1	-	10	1164	c.905A>C	c.(904-906)cAa>cCa	p.Q302P	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Q302P|TBL1XR1-AS1_ENST00000454723.2_RNA			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	302					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|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)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AGGAAACTGTTGCTTGGCTTC	0.303																																																	0													26.0	25.0	26.0					3																	176763937		1817	4066	5883	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.905A>C	3.37:g.176763937T>G	ENSP00000405574:p.Gln302Pro		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q302P	ENST00000430069.1	37	c.905	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542373	0.85917	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	D;D	0.81579	-1.51;-1.51	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.92627	0.6113	10	0.87932	D	0	-1.1468	15.5609	0.76244	0.0:0.0:0.0:1.0	.	302	Q9BZK7	TBL1R_HUMAN	P	302;302;164	ENSP00000405574:Q302P;ENSP00000413251:Q302P	ENSP00000405574:Q302P	Q	-	2	0	TBL1XR1	178246631	1.000000	0.71417	0.967000	0.41034	0.874000	0.50279	7.638000	0.83328	2.271000	0.75665	0.533000	0.62120	CAA	TBL1XR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.303	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	T	NM_024665		176763937	-1	no_errors	ENST00000430069	ensembl	human	known	70_37	missense	SNP	0.999	G
TBPL2	387332	genome.wustl.edu	37	14	55903419	55903419	+	Silent	SNP	T	T	G	rs375395251		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:55903419T>G	ENST00000247219.5	-	2	538	c.468A>C	c.(466-468)tcA>tcC	p.S156S		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GGTGCAGCTGTGAATGGGAAT	0.498																																																	0													216.0	185.0	196.0					14																	55903419		2203	4300	6503	SO:0001819	synonymous_variant	387332			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.468A>C	14.37:g.55903419T>G				Silent	SNP	pfam_TBP,prints_TBP	p.S156	ENST00000247219.5	37	c.468	CCDS9724.1	14																																																																																			TBPL2	-	NULL		0.498	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL2	HGNC	protein_coding	OTTHUMT00000276916.1	T	NM_199047		55903419	-1	no_errors	ENST00000247219	ensembl	human	known	70_37	silent	SNP	0.000	G
TBRG1	84897	genome.wustl.edu	37	11	124500738	124500738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:124500738C>T	ENST00000441174.3	+	7	1138	c.934C>T	c.(934-936)Cga>Tga	p.R312*	TBRG1_ENST00000375005.4_Nonsense_Mutation_p.R161*|TBRG1_ENST00000438907.2_3'UTR	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	312	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		TCCAGGAGCTCGAAAATGCAT	0.473																																																	0													41.0	38.0	39.0					11																	124500738		2201	4299	6500	SO:0001587	stop_gained	84897			AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"""nuclear interactor of ARF and MDM2"""	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.934C>T	11.37:g.124500738C>T	ENSP00000409016:p.Arg312*		Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Nonsense_Mutation	SNP	pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C	p.R312*	ENST00000441174.3	37	c.934	CCDS8448.2	11	.	.	.	.	.	.	.	.	.	.	C	43	9.846276	0.99279	.	.	ENSG00000154144	ENST00000441174;ENST00000375005	.	.	.	6.17	6.17	0.99709	.	0.128906	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1266	18.3732	0.90420	0.0:1.0:0.0:0.0	.	.	.	.	X	312;161	.	ENSP00000364144:R161X	R	+	1	2	TBRG1	124005948	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.061000	0.76699	2.941000	0.99782	0.655000	0.94253	CGA	TBRG1	-	pfam_FYrich_C,smart_FYrich_C		0.473	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG1	HGNC	protein_coding	OTTHUMT00000329057.2	C	NM_032811		124500738	+1	no_errors	ENST00000441174	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TBX2	6909	genome.wustl.edu	37	17	59485586	59485586	+	Missense_Mutation	SNP	C	C	T	rs373091690		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:59485586C>T	ENST00000240328.3	+	7	2139	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	620					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						GCCCCGACTGCGTTTCAGCCC	0.706																																					GBM(3;187 253 11467 14965 23079)												0								C	CYS/ARG	0,4404		0,0,2202	29.0	27.0	28.0		1858	5.1	1.0	17		28	1,8595		0,1,4297	no	missense	TBX2	NM_005994.3	180	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	620/713	59485586	1,12999	2202	4298	6500	SO:0001583	missense	6909			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1858C>T	17.37:g.59485586C>T	ENSP00000240328:p.Arg620Cys		Q16424|Q7Z647	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.R620C	ENST00000240328.3	37	c.1858	CCDS11627.2	17	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951021	0.92660	0.0	1.16E-4	ENSG00000121068	ENST00000240328	D	0.96300	-3.97	5.12	5.12	0.69794	.	0.695505	0.15310	N	0.269133	D	0.98012	0.9345	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.98490	1.0609	10	0.87932	D	0	.	17.3122	0.87212	0.0:1.0:0.0:0.0	.	620	Q13207	TBX2_HUMAN	C	620	ENSP00000240328:R620C	ENSP00000240328:R620C	R	+	1	0	TBX2	56840368	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.576000	0.46033	2.679000	0.91253	0.655000	0.94253	CGT	TBX2	-	NULL		0.706	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2	C	NM_005994		59485586	+1	no_errors	ENST00000240328	ensembl	human	novel	70_37	missense	SNP	1.000	T
TBX20	57057	genome.wustl.edu	37	7	35242127	35242127	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:35242127C>T	ENST00000408931.3	-	8	1785	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	420					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTGATGGTATCGCGGCATGTG	0.527																																																	0													31.0	32.0	32.0					7																	35242127		1934	4134	6068	SO:0001583	missense	57057			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1259G>A	7.37:g.35242127C>T	ENSP00000386170:p.Arg420Gln		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R420Q	ENST00000408931.3	37	c.1259	CCDS43568.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.483127	0.96307	.	.	ENSG00000164532	ENST00000408931	D	0.87887	-2.31	5.66	5.66	0.87406	.	0.113505	0.56097	D	0.000034	D	0.88280	0.6394	L	0.27053	0.805	0.54753	D	0.999988	D	0.64830	0.994	D	0.64042	0.921	D	0.84166	0.0431	10	0.14252	T	0.57	.	19.7407	0.96230	0.0:1.0:0.0:0.0	.	420	Q9UMR3	TBX20_HUMAN	Q	420	ENSP00000386170:R420Q	ENSP00000386170:R420Q	R	-	2	0	TBX20	35208652	1.000000	0.71417	0.228000	0.23943	0.923000	0.55619	7.487000	0.81328	2.654000	0.90174	0.609000	0.83330	CGA	TBX20	-	NULL		0.527	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	C	NM_020417		35242127	-1	no_errors	ENST00000408931	ensembl	human	known	70_37	missense	SNP	0.991	T
TBX5	6910	genome.wustl.edu	37	12	114793616	114793616	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:114793616G>T	ENST00000310346.4	-	9	1944	c.1278C>A	c.(1276-1278)ttC>ttA	p.F426L	TBX5_ENST00000405440.2_Missense_Mutation_p.F426L|TBX5_ENST00000349716.5_Missense_Mutation_p.F376L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	426				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AGTGAGCGGAGAAGTGCTGGT	0.627																																					NSCLC(152;1358 1980 4050 23898 40356)												0													33.0	31.0	32.0					12																	114793616		2203	4300	6503	SO:0001583	missense	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1278C>A	12.37:g.114793616G>T	ENSP00000309913:p.Phe426Leu		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.F426L	ENST00000310346.4	37	c.1278	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.171762	0.94807	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.53640	0.61;0.61;0.61	4.99	4.99	0.66335	.	0.104187	0.64402	D	0.000002	T	0.47432	0.1445	M	0.74258	2.255	0.80722	D	1	P	0.43788	0.817	B	0.33750	0.169	T	0.56390	-0.7987	10	0.39692	T	0.17	.	18.2999	0.90160	0.0:0.0:1.0:0.0	.	426	Q99593	TBX5_HUMAN	L	376;426;323;426	ENSP00000337723:F376L;ENSP00000309913:F426L;ENSP00000384152:F426L	ENSP00000309913:F426L	F	-	3	2	TBX5	113277999	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.428000	0.66489	2.321000	0.78463	0.655000	0.94253	TTC	TBX5	-	NULL		0.627	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	G	NM_080717		114793616	-1	no_errors	ENST00000310346	ensembl	human	known	70_37	missense	SNP	1.000	T
TC2N	123036	genome.wustl.edu	37	14	92258717	92258717	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:92258717T>G	ENST00000435962.2	-	9	1364	c.1041A>C	c.(1039-1041)aaA>aaC	p.K347N	TC2N_ENST00000556018.1_Intron|TC2N_ENST00000340892.5_Missense_Mutation_p.K347N|TC2N_ENST00000360594.5_Missense_Mutation_p.K347N	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	347					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTACAGAAATTTTTGAAGGTG	0.358																																																	0													130.0	130.0	130.0					14																	92258717		2203	4300	6503	SO:0001583	missense	123036			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1041A>C	14.37:g.92258717T>G	ENSP00000387882:p.Lys347Asn			Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.K347N	ENST00000435962.2	37	c.1041	CCDS9897.1	14	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618802	0.66787	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556590	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.46	1.76	0.24704	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.70278	-0.4916	10	0.30078	T	0.28	-26.4166	6.4447	0.21869	0.0:0.1394:0.1326:0.728	.	347	Q8N9U0	TAC2N_HUMAN	N	347;347;347;99	ENSP00000387882:K347N;ENSP00000343199:K347N;ENSP00000353802:K347N;ENSP00000450922:K99N	ENSP00000343199:K347N	K	-	3	2	TC2N	91328470	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	3.537000	0.53590	0.051000	0.15978	0.455000	0.32223	AAA	TC2N	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.358	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	HGNC	protein_coding	OTTHUMT00000411778.1	T	NM_152332		92258717	-1	no_errors	ENST00000340892	ensembl	human	known	70_37	missense	SNP	1.000	G
TCAIM	285343	genome.wustl.edu	37	3	44441979	44441979	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:44441979G>A	ENST00000342649.4	+	9	1445	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	TCAIM_ENST00000417237.1_Missense_Mutation_p.E340K	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	340						mitochondrion (GO:0005739)											GACACTTGAAGAATATTACTC	0.338																																																	0													101.0	102.0	102.0					3																	44441979		2203	4296	6499	SO:0001583	missense	285343				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1018G>A	3.37:g.44441979G>A	ENSP00000341539:p.Glu340Lys		A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	NULL	p.E340K	ENST00000342649.4	37	c.1018	CCDS2712.1	3	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516006	0.85495	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.48522	0.81;0.81	5.74	4.86	0.63082	.	0.047367	0.85682	D	0.000000	T	0.53077	0.1774	L	0.55103	1.725	0.46678	D	0.999157	P	0.47841	0.901	P	0.47645	0.553	T	0.57335	-0.7829	10	0.56958	D	0.05	.	17.0457	0.86501	0.0:0.1268:0.8732:0.0	.	340	Q8N3R3	CC023_HUMAN	K	340	ENSP00000402581:E340K;ENSP00000341539:E340K	ENSP00000341539:E340K	E	+	1	0	C3orf23	44416983	1.000000	0.71417	0.558000	0.28319	0.998000	0.95712	6.089000	0.71384	1.398000	0.46701	0.563000	0.77884	GAA	TCAIM	-	NULL		0.338	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	HGNC	protein_coding	OTTHUMT00000256655.2	G	NM_173826		44441979	+1	no_errors	ENST00000342649	ensembl	human	known	70_37	missense	SNP	0.999	A
TCEAL3	85012	genome.wustl.edu	37	X	102864443	102864443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:102864443G>T	ENST00000372628.1	+	3	809	c.451G>T	c.(451-453)Gag>Tag	p.E151*	TCEAL3_ENST00000372627.5_Nonsense_Mutation_p.E151*|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Nonsense_Mutation_p.E151*			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGGGCTCAAGAGGAGCTAAG	0.507																																																	0													294.0	254.0	268.0					X																	102864443		2203	4300	6503	SO:0001587	stop_gained	85012			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.451G>T	X.37:g.102864443G>T	ENSP00000361711:p.Glu151*		D3DXA4	Nonsense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.E151*	ENST00000372628.1	37	c.451	CCDS14511.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.695267	0.96793	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	.	.	.	4.59	3.72	0.42706	.	0.000000	0.39909	N	0.001222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.5257	0.39162	0.0:0.2083:0.7917:0.0	.	.	.	.	X	151	.	ENSP00000243286:E151X	E	+	1	0	TCEAL3	102751099	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.210000	0.42816	1.257000	0.44085	0.538000	0.68166	GAG	TCEAL3	-	pfam_TF_A-like/BEX-like		0.507	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL3	HGNC	protein_coding	OTTHUMT00000057737.1	G	NM_032926		102864443	+1	no_errors	ENST00000243286	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TCERG1	10915	genome.wustl.edu	37	5	145878161	145878161	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:145878161A>C	ENST00000296702.5	+	16	2332	c.2294A>C	c.(2293-2295)aAg>aCg	p.K765T	TCERG1_ENST00000394421.2_Missense_Mutation_p.K744T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	765	FF 2.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAATTGAAAAGATGAAAGAC	0.388																																																	0													109.0	111.0	110.0					5																	145878161		2203	4300	6503	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2294A>C	5.37:g.145878161A>C	ENSP00000296702:p.Lys765Thr		Q2NKN2|Q59EA1	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.K765T	ENST00000296702.5	37	c.2294	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262142	0.80358	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.29655	1.56;1.56	5.51	5.51	0.81932	FF domain (4);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.81914	0.995;0.994	T	0.61662	-0.7017	10	0.42905	T	0.14	-19.2459	15.9178	0.79535	1.0:0.0:0.0:0.0	.	744;765	O14776-2;O14776	.;TCRG1_HUMAN	T	765;744	ENSP00000296702:K765T;ENSP00000377943:K744T	ENSP00000296702:K765T	K	+	2	0	TCERG1	145858354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.208000	0.95075	2.216000	0.71823	0.533000	0.62120	AAG	TCERG1	-	pfam_FF_domain,superfamily_FF_domain,smart_FF_domain		0.388	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	A	NM_001040006		145878161	+1	no_errors	ENST00000296702	ensembl	human	known	70_37	missense	SNP	1.000	C
TCF12	6938	genome.wustl.edu	37	15	57578977	57578977	+	3'UTR	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:57578977C>A	ENST00000267811.5	+	0	2987				TCF12_ENST00000343827.3_3'UTR|TCF12_ENST00000438423.2_3'UTR|TCF12_ENST00000333725.5_3'UTR|TCF12_ENST00000452095.2_3'UTR|TCF12_ENST00000557843.1_3'UTR	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TATAGCATTTCTCTTGCTCTC	0.353			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0																																										SO:0001624	3_prime_UTR_variant	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.*634C>A	15.37:g.57578977C>A			Q7Z3D9|Q86TC1|Q86VM2	RNA	SNP	-	NULL	ENST00000267811.5	37	NULL	CCDS10159.1	15																																																																																			TCF12	-	-		0.353	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	HGNC	protein_coding	OTTHUMT00000255069.3	C	NM_003205		57578977	+1	no_errors	ENST00000560191	ensembl	human	putative	70_37	rna	SNP	0.980	A
TCF4	6925	genome.wustl.edu	37	18	52927229	52927229	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:52927229G>T	ENST00000356073.4	-	13	1631	c.1020C>A	c.(1018-1020)agC>agA	p.S340R	TCF4_ENST00000566279.1_Missense_Mutation_p.S280R|TCF4_ENST00000570287.2_Missense_Mutation_p.S180R|TCF4_ENST00000564228.1_Missense_Mutation_p.S269R|TCF4_ENST00000561831.3_Missense_Mutation_p.S180R|TCF4_ENST00000570177.2_Missense_Mutation_p.S210R|TCF4_ENST00000354452.3_Missense_Mutation_p.S340R|TCF4_ENST00000398339.1_Missense_Mutation_p.S442R|TCF4_ENST00000566286.1_Missense_Mutation_p.S338R|TCF4_ENST00000457482.3_Missense_Mutation_p.S180R|TCF4_ENST00000544241.2_Missense_Mutation_p.S269R|TCF4_ENST00000537856.3_Missense_Mutation_p.S210R|TCF4_ENST00000540999.1_Missense_Mutation_p.S316R|TCF4_ENST00000568740.1_Missense_Mutation_p.S315R|TCF4_ENST00000561992.1_Missense_Mutation_p.S210R|TCF4_ENST00000543082.1_Missense_Mutation_p.S298R|TCF4_ENST00000567880.1_Missense_Mutation_p.S280R|TCF4_ENST00000565018.2_Missense_Mutation_p.S340R|TCF4_ENST00000563760.1_Intron|TCF4_ENST00000564403.2_Missense_Mutation_p.S346R|TCF4_ENST00000537578.1_Missense_Mutation_p.S316R|TCF4_ENST00000564999.1_Missense_Mutation_p.S340R|TCF4_ENST00000568673.1_Missense_Mutation_p.S316R	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	340					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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 RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTGATGAAAAGCTGTTGTTAG	0.328																																																	0													146.0	153.0	151.0					18																	52927229		2203	4300	6503	SO:0001583	missense	6925			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1020C>A	18.37:g.52927229G>T	ENSP00000348374:p.Ser340Arg		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S442R	ENST00000356073.4	37	c.1326	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249929	0.80024	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	6.06	5.19	0.71726	.	0.085942	0.85682	D	0.000000	T	0.65080	0.2657	M	0.83012	2.62	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	0.996;1.0;0.998;0.999;0.997;0.996;0.992;0.998;0.999	D;D;D;D;P;D;D;D;D	0.91635	0.937;0.999;0.948;0.998;0.897;0.954;0.933;0.952;0.943	T	0.68315	-0.5441	10	0.87932	D	0	-16.8238	11.0448	0.47852	0.1442:0.0:0.8558:0.0	.	316;340;180;442;340;298;269;180;338	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	R	340;180;340;298;316;316;269;210;442	ENSP00000346440:S340R;ENSP00000409447:S180R;ENSP00000348374:S340R;ENSP00000439656:S298R;ENSP00000445202:S316R;ENSP00000440731:S316R;ENSP00000441562:S269R;ENSP00000439827:S210R;ENSP00000381382:S442R	ENSP00000346440:S340R	S	-	3	2	TCF4	51078227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.603000	0.36794	2.880000	0.98712	0.650000	0.86243	AGC	TCF4	-	NULL		0.328	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	G	NM_003199		52927229	-1	no_errors	ENST00000398339	ensembl	human	known	70_37	missense	SNP	1.000	T
TCHH	7062	genome.wustl.edu	37	1	152081445	152081445	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:152081445G>T	ENST00000368804.1	-	2	4247	c.4248C>A	c.(4246-4248)ttC>ttA	p.F1416L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1416	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCGCGGAATTTTCTGT	0.587																																																	0													64.0	67.0	66.0					1																	152081445		1889	4107	5996	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4248C>A	1.37:g.152081445G>T	ENSP00000357794:p.Phe1416Leu		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.F1416L	ENST00000368804.1	37	c.4248	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	g	12.70	2.016959	0.35606	.	.	ENSG00000159450	ENST00000368804	T	0.03772	3.81	3.78	0.749	0.18381	.	.	.	.	.	T	0.00815	0.0027	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.47849	-0.9085	9	0.07990	T	0.79	.	2.9854	0.05966	0.3293:0.0:0.4699:0.2008	.	1416	Q07283	TRHY_HUMAN	L	1416	ENSP00000357794:F1416L	ENSP00000357794:F1416L	F	-	3	2	TCHH	150348069	0.000000	0.05858	0.019000	0.16419	0.523000	0.34469	-0.086000	0.11233	0.579000	0.29504	0.460000	0.39030	TTC	TCHH	-	NULL		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	G	NM_007113		152081445	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.003	T
TCP10	6953	genome.wustl.edu	37	6	167786670	167786670	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:167786670T>C	ENST00000397829.4	-	8	1135	c.968A>G	c.(967-969)gAc>gGc	p.D323G	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	350						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGGCCCCATGTCCTGTCTGGA	0.527																																																	0													68.0	75.0	73.0					6																	167786670		1858	4095	5953	SO:0001583	missense	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.968A>G	6.37:g.167786670T>C	ENSP00000380929:p.Asp323Gly		Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.D323G	ENST00000397829.4	37	c.968	CCDS43527.1	6	.	.	.	.	.	.	.	.	.	.	t	3.247	-0.154163	0.06585	.	.	ENSG00000203690	ENST00000397829	T	0.29655	1.56	1.53	1.53	0.23141	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37888	-0.9686	9	0.87932	D	0	.	5.0659	0.14582	0.0:0.0:0.6503:0.3497	.	350	Q12799	TCP10_HUMAN	G	323	ENSP00000380929:D323G	ENSP00000380929:D323G	D	-	2	0	TCP10	167706660	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.625000	0.02036	0.211000	0.20683	-0.366000	0.07423	GAC	TCP10	-	NULL		0.527	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	T	NM_004610		167786670	-1	no_errors	ENST00000397829	ensembl	human	known	70_37	missense	SNP	0.001	C
TCP10L	140290	genome.wustl.edu	37	21	33949030	33949030	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:33949030T>G	ENST00000300258.3	-	0	815				LINC00846_ENST00000334165.4_lincRNA|TCP10L_ENST00000472557.1_3'UTR	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						GAATCTGAATTTTCCAAGGGG	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	140290			AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.*54A>C	21.37:g.33949030T>G			Q53EW0|Q96LN5	RNA	SNP	-	NULL	ENST00000300258.3	37	NULL	CCDS13616.1	21																																																																																			TCP10L	-	-		0.413	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10L	HGNC	protein_coding	OTTHUMT00000139350.1	T	NM_144659		33949030	-1	no_errors	ENST00000472557	ensembl	human	known	70_37	rna	SNP	0.011	G
TCP10L2	401285	genome.wustl.edu	37	6	167608944	167608944	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:167608944G>T	ENST00000473271.2	+	0	232							B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2											endometrium(1)|kidney(2)|lung(3)	6						GACAGGAAGAGACCTTATTTC	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	401285				CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000473271.2:c.*229G>T	6.37:g.167608944G>T				RNA	SNP	-	NULL	ENST00000473271.2	37	NULL		6																																																																																			TCP10L2	-	-		0.393	TCP10L2-003	KNOWN	basic|exp_conf	processed_transcript	TCP10L2	HGNC	protein_coding	OTTHUMT00000331450.2	G	XR_040749		167608944	+1	no_errors	ENST00000473271	ensembl	human	known	70_37	rna	SNP	0.998	T
TCP11	6954	genome.wustl.edu	37	6	35088206	35088206	+	Splice_Site	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:35088206C>A	ENST00000512012.1	-	6	1089	c.933G>T	c.(931-933)gaG>gaT	p.E311D	TCP11_ENST00000311875.5_Splice_Site_p.E324D|TCP11_ENST00000373974.4_Splice_Site_p.E278D|TCP11_ENST00000412155.2_Splice_Site_p.E273D|TCP11_ENST00000373979.2_Splice_Site_p.E249D|TCP11_ENST00000418521.2_Splice_Site_p.E248D|TCP11_ENST00000244645.3_Splice_Site_p.E249D|TCP11_ENST00000444780.2_Splice_Site_p.E319D			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	311					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ACATTCCTACCTCAGGGAACT	0.557																																																	0													106.0	117.0	113.0					6																	35088206		2203	4300	6503	SO:0001630	splice_region_variant	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.933+1G>T	6.37:g.35088206C>A			B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	pfam_Tcp11	p.E324D	ENST00000512012.1	37	c.972		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.707092|4.707092	0.89018|0.89018	.|.	.|.	ENSG00000124678|ENSG00000124678	ENST00000502480|ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638	.|T;T;T;T;T;T;T;T;T	.|0.17370	.|2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.03|5.03	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40247|0.40247	0.1109|0.1109	M|M	0.92367|0.92367	3.3|3.3	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0	T|T	0.54370|0.54370	-0.8304|-0.8304	5|9	.|.	.|.	.|.	-24.5685|-24.5685	12.1428|12.1428	0.54007|0.54007	0.0:0.9175:0.0:0.0825|0.0:0.9175:0.0:0.0825	.|.	.|278;273;319;384;311;249	.|B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.|.;.;.;.;TCP11_HUMAN;.	Y|D	119|249;273;249;273;324;319;278;248;311;170	.|ENSP00000363091:E249D;ENSP00000402816:E273D;ENSP00000244645:E249D;ENSP00000308708:E324D;ENSP00000404479:E319D;ENSP00000363085:E278D;ENSP00000415320:E248D;ENSP00000425995:E311D;ENSP00000421103:E170D	.|.	D|E	-|-	1|3	0|2	TCP11|TCP11	35196184|35196184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.681000|4.681000	0.61663|0.61663	1.220000|1.220000	0.43490|0.43490	0.557000|0.557000	0.71058|0.71058	GAC|GAG	TCP11	-	pfam_Tcp11		0.557	TCP11-014	PUTATIVE	basic	protein_coding	TCP11	HGNC	protein_coding	OTTHUMT00000370354.1	C	NM_001093728	Missense_Mutation	35088206	-1	no_errors	ENST00000311875	ensembl	human	known	70_37	missense	SNP	1.000	A
TCP10L2	401285	genome.wustl.edu	37	6	167610374	167610374	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:167610374G>T	ENST00000473271.2	+	0	667							B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2											endometrium(1)|kidney(2)|lung(3)	6						ACACGTCAGAGAACAGAAGGC	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	401285				CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000473271.2:c.*664G>T	6.37:g.167610374G>T				RNA	SNP	-	NULL	ENST00000473271.2	37	NULL		6																																																																																			TCP10L2	-	-		0.393	TCP10L2-003	KNOWN	basic|exp_conf	processed_transcript	TCP10L2	HGNC	protein_coding	OTTHUMT00000331450.2	G	XR_040749		167610374	+1	no_errors	ENST00000473271	ensembl	human	known	70_37	rna	SNP	0.009	T
TDGF1	6997	genome.wustl.edu	37	3	46658764	46658764	+	3'UTR	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:46658764A>C	ENST00000444264.1	+	0	356							P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1						activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|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 endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ATTGGCAAACAGACTTACTAC	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	6997			M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000444264.1:c.*353A>C	3.37:g.46658764A>C			Q8TCC1	RNA	SNP	-	NULL	ENST00000444264.1	37	NULL		3																																																																																			TDGF1	-	-		0.428	TDGF1-006	PUTATIVE	basic|exp_conf	processed_transcript	TDGF1	HGNC	protein_coding	OTTHUMT00000344228.1	A	NM_003212		46658764	+1	no_errors	ENST00000444264	ensembl	human	putative	70_37	rna	SNP	0.971	C
TDP2	51567	genome.wustl.edu	37	6	24658980	24658980	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:24658980A>C	ENST00000378198.4	-	3	422				TDP2_ENST00000478285.1_5'UTR|TDP2_ENST00000341060.3_Intron|TDP2_ENST00000545995.1_Intron			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2						cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GATCAGAATAAAACATGGCTT	0.338								Direct reversal of damage																																									0													121.0	111.0	115.0					6																	24658980		2203	4300	6503	SO:0001627	intron_variant	51567			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.252-18T>G	6.37:g.24658980A>C			B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	RNA	SNP	-	NULL	ENST00000378198.4	37	NULL	CCDS4557.1	6																																																																																			TDP2	-	-		0.338	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TDP2	HGNC	protein_coding	OTTHUMT00000040012.1	A			24658980	-1	no_errors	ENST00000478285	ensembl	human	known	70_37	rna	SNP	0.007	C
TDRD5	163589	genome.wustl.edu	37	1	179562912	179562912	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:179562912G>A	ENST00000367614.1	+	3	909	c.550G>A	c.(550-552)Gat>Aat	p.D184N	TDRD5_ENST00000444136.1_Missense_Mutation_p.D184N|RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000294848.8_Missense_Mutation_p.D184N	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	184	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCGGCTTCAGATGTCATTTC	0.413																																																	0													108.0	107.0	107.0					1																	179562912		2203	4300	6503	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.550G>A	1.37:g.179562912G>A	ENSP00000356586:p.Asp184Asn		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.D184N	ENST00000367614.1	37	c.550	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018949	0.75275	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.54279	0.58;0.58;0.58	5.79	5.79	0.91817	.	0.060955	0.64402	D	0.000008	T	0.63931	0.2553	L	0.29908	0.895	0.50467	D	0.999876	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64007	-0.6508	10	0.52906	T	0.07	-3.2521	18.5919	0.91215	0.0:0.0:1.0:0.0	.	184;184	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	N	184	ENSP00000356586:D184N;ENSP00000294848:D184N;ENSP00000406052:D184N	ENSP00000294848:D184N	D	+	1	0	TDRD5	177829535	1.000000	0.71417	0.961000	0.40146	0.689000	0.40095	7.019000	0.76412	2.727000	0.93392	0.655000	0.94253	GAT	TDRD5	-	NULL		0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	G	NM_173533		179562912	+1	no_errors	ENST00000444136	ensembl	human	known	70_37	missense	SNP	0.996	A
TDRD6	221400	genome.wustl.edu	37	6	46659321	46659321	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:46659321T>G	ENST00000316081.6	+	1	3456	c.3456T>G	c.(3454-3456)atT>atG	p.I1152M	TDRD6_ENST00000544460.1_Missense_Mutation_p.I1152M	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1152					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTGCTAGTATTAATAAGAAGT	0.308																																																	0													51.0	57.0	55.0					6																	46659321		2199	4292	6491	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3456T>G	6.37:g.46659321T>G	ENSP00000346065:p.Ile1152Met		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.I1152M	ENST00000316081.6	37	c.3456	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	T	11.55	1.672128	0.29693	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.21734	1.99;2.05	5.73	-1.67	0.08238	.	0.234462	0.32401	N	0.006149	T	0.17109	0.0411	M	0.69823	2.125	0.29490	N	0.855704	D;D	0.60160	0.987;0.978	P;P	0.61477	0.889;0.777	T	0.03335	-1.1047	10	0.54805	T	0.06	-0.4362	2.619	0.04911	0.1393:0.3988:0.1477:0.3142	.	1152;1152	F5H5M3;O60522	.;TDRD6_HUMAN	M	1152	ENSP00000443299:I1152M;ENSP00000346065:I1152M	ENSP00000346065:I1152M	I	+	3	3	TDRD6	46767280	0.934000	0.31675	0.035000	0.18076	0.465000	0.32709	-0.028000	0.12350	-0.116000	0.11893	0.533000	0.62120	ATT	TDRD6	-	NULL		0.308	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	T	XM_166443		46659321	+1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.377	G
TDRD6	221400	genome.wustl.edu	37	6	46660606	46660606	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:46660606G>T	ENST00000316081.6	+	1	4741	c.4741G>T	c.(4741-4743)Gat>Tat	p.D1581Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.D1581Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1581	Tudor 7. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATACAGAGAAGATGGACATTA	0.393																																																	0													132.0	131.0	132.0					6																	46660606		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4741G>T	6.37:g.46660606G>T	ENSP00000346065:p.Asp1581Tyr		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.D1581Y	ENST00000316081.6	37	c.4741	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571783	0.86542	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.19105	2.17;2.17	5.87	5.87	0.94306	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.270012	0.36444	N	0.002586	T	0.55178	0.1904	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66476	-0.5914	10	0.87932	D	0	-28.3488	20.2033	0.98269	0.0:0.0:1.0:0.0	.	1581;1581	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1581	ENSP00000443299:D1581Y;ENSP00000346065:D1581Y	ENSP00000346065:D1581Y	D	+	1	0	TDRD6	46768565	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.254000	0.78329	2.779000	0.95612	0.655000	0.94253	GAT	TDRD6	-	pfam_Tudor,smart_Tudor,pfscan_Tudor		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46660606	+1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	1.000	T
TEFM	79736	genome.wustl.edu	37	17	29226337	29226337	+	Silent	SNP	C	C	T	rs555100670		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:29226337C>T	ENST00000581216.1	-	4	1554	c.933G>A	c.(931-933)gcG>gcA	p.A311A	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	311					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										CCCGAGGATCCGCCTTCAGTA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		17533	0.0		0.0	False		,,,				2504	0.001																0													123.0	123.0	123.0					17																	29226337		1874	4091	5965	SO:0001819	synonymous_variant	79736				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.933G>A	17.37:g.29226337C>T			E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Silent	SNP	superfamily_RNaseH-like_dom	p.A311	ENST00000581216.1	37	c.933	CCDS42291.1	17																																																																																			TEFM	-	superfamily_RNaseH-like_dom		0.403	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEFM	HGNC	protein_coding	OTTHUMT00000444498.1	C	NM_024683		29226337	-1	no_errors	ENST00000581216	ensembl	human	known	70_37	silent	SNP	0.000	T
TEFM	79736	genome.wustl.edu	37	17	29226360	29226360	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:29226360G>T	ENST00000581216.1	-	4	1531	c.910C>A	c.(910-912)Ctc>Atc	p.L304I	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	304					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										GAATCGAAGAGAAACTGCTTC	0.433																																																	0													132.0	131.0	131.0					17																	29226360		1893	4109	6002	SO:0001583	missense	79736				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.910C>A	17.37:g.29226360G>T	ENSP00000462963:p.Leu304Ile		E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.L304I	ENST00000581216.1	37	c.910	CCDS42291.1	17	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779541	0.31502	.	.	ENSG00000172171	ENST00000306049	.	.	.	6.06	5.07	0.68467	Ribonuclease H-like (1);	0.052286	0.85682	D	0.000000	T	0.61438	0.2347	M	0.61703	1.905	0.80722	D	1	P	0.47106	0.89	P	0.46076	0.503	T	0.62978	-0.6739	9	0.45353	T	0.12	-13.7137	16.4954	0.84238	0.0:0.0:0.8685:0.1315	.	304	Q96QE5	TEFM_HUMAN	I	304	.	ENSP00000306574:L304I	L	-	1	0	C17orf42	26250486	0.999000	0.42202	0.999000	0.59377	0.077000	0.17291	2.174000	0.42482	2.880000	0.98712	0.650000	0.86243	CTC	TEFM	-	superfamily_RNaseH-like_dom		0.433	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEFM	HGNC	protein_coding	OTTHUMT00000444498.1	G	NM_024683		29226360	-1	no_errors	ENST00000581216	ensembl	human	known	70_37	missense	SNP	1.000	T
TEK	7010	genome.wustl.edu	37	9	27183515	27183515	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:27183515T>G	ENST00000380036.4	+	8	1531	c.1089T>G	c.(1087-1089)agT>agG	p.S363R	TEK_ENST00000406359.4_Missense_Mutation_p.S320R|TEK_ENST00000519097.1_Missense_Mutation_p.S216R	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	363	Ig-like C2-type 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AAGTAAACAGTGGTAAATTTA	0.428																																																	0													151.0	164.0	160.0					9																	27183515		2203	4300	6503	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1089T>G	9.37:g.27183515T>G	ENSP00000369375:p.Ser363Arg		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S363R	ENST00000380036.4	37	c.1089	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668837	0.47677	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.73152	-0.71;-0.71;-0.72;2.94	5.52	3.18	0.36537	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.476330	0.19704	N	0.107969	T	0.72859	0.3513	L	0.47716	1.5	0.35753	D	0.819594	B;B;B;D	0.71674	0.232;0.005;0.395;0.998	B;B;B;D	0.65140	0.032;0.024;0.406;0.932	T	0.71066	-0.4700	10	0.17832	T	0.49	.	8.0003	0.30293	0.0:0.1625:0.0:0.8375	.	216;396;320;363	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	R	216;363;320;320;173	ENSP00000430686:S216R;ENSP00000369375:S363R;ENSP00000383977:S320R;ENSP00000428337:S173R	ENSP00000343716:S320R	S	+	3	2	TEK	27173515	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.880000	0.28159	0.477000	0.27464	-0.250000	0.11733	AGT	TEK	-	pfscan_Ig-like		0.428	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	T			27183515	+1	no_errors	ENST00000380036	ensembl	human	known	70_37	missense	SNP	1.000	G
TEKT4P2	100132288	genome.wustl.edu	37	21	9907319	9907319	+	RNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:9907319G>T	ENST00000416067.1	-	0	1473					NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		GGCGGTCGATGAAGAGACTGT	0.592																																																	0																																												100132288					21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9907319G>T				RNA	SNP	-	NULL	ENST00000416067.1	37	NULL		21	.	.	.	.	.	.	.	.	.	.	.	3.264	-0.150581	0.06585	.	.	ENSG00000188681	ENST00000400754	.	.	.	0.109	0.109	0.14578	.	.	.	.	.	T	0.37128	0.0992	.	.	.	.	.	.	.	.	.	.	.	.	T	0.43734	-0.9373	3	.	.	.	.	5.9913	0.19465	6.0E-4:0.0:0.9994:0.0	.	.	.	.	L	101	.	.	F	-	3	2	CR392039.1	.	1.000000	0.71417	0.031000	0.17742	0.031000	0.12232	2.220000	0.42908	0.181000	0.19994	0.184000	0.17185	TTC	TEKT4P2	-	-		0.592	TEKT4P2-002	KNOWN	basic	processed_transcript	TEKT4P2	HGNC	pseudogene	OTTHUMT00000417115.1	G	NM_001033515		9907319	-1	no_errors	ENST00000416067	ensembl	human	known	70_37	rna	SNP	1.000	T
TENM1	10178	genome.wustl.edu	37	X	123556133	123556133	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:123556133T>G	ENST00000371130.3	-	23	4502	c.4439A>C	c.(4438-4440)gAc>gCc	p.D1480A	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.D1487A	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1480					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGAAAAACAGTCACAGTTTGG	0.438																																																	0													124.0	94.0	104.0					X																	123556133		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4439A>C	X.37:g.123556133T>G	ENSP00000360171:p.Asp1480Ala		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.D1487A	ENST00000371130.3	37	c.4460	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329690	0.81690	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86097	-2.07;-2.03	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.054991	0.64402	D	0.000001	D	0.82939	0.5146	L	0.39633	1.23	0.80722	D	1	D;P;B	0.58268	0.982;0.842;0.394	P;B;B	0.47075	0.536;0.257;0.052	D	0.84072	0.0380	10	0.51188	T	0.08	.	14.373	0.66854	0.0:0.0:0.0:1.0	.	1486;1487;1480	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	1480;1487	ENSP00000360171:D1480A;ENSP00000403954:D1487A	ENSP00000360171:D1480A	D	-	2	0	ODZ1	123383814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.948000	0.87774	1.773000	0.52216	0.481000	0.45027	GAC	TENM1	-	NULL		0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	T	NM_014253		123556133	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	G
TENM1	10178	genome.wustl.edu	37	X	123787498	123787498	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:123787498G>T	ENST00000371130.3	-	7	1367	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	TENM1_ENST00000422452.2_Missense_Mutation_p.S435Y	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	435					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTTGGCTAAAGAAATATTGAA	0.388																																																	0													139.0	133.0	135.0					X																	123787498		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1304C>A	X.37:g.123787498G>T	ENSP00000360171:p.Ser435Tyr		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S435Y	ENST00000371130.3	37	c.1304	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483602	0.84854	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.33438	1.41;1.41	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.991;0.997;0.998	T	0.64283	-0.6444	10	0.87932	D	0	.	18.6434	0.91402	0.0:0.0:1.0:0.0	.	434;435;435	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Y	435	ENSP00000360171:S435Y;ENSP00000403954:S435Y	ENSP00000360171:S435Y	S	-	2	0	ODZ1	123615179	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.346000	0.79739	0.523000	0.50628	TCT	TENM1	-	NULL		0.388	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123787498	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	T
TENM3	55714	genome.wustl.edu	37	4	183676343	183676343	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:183676343T>G	ENST00000511685.1	+	22	4946	c.4823T>G	c.(4822-4824)tTt>tGt	p.F1608C	TENM3_ENST00000406950.2_Missense_Mutation_p.F1608C|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1608					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTAGTTTTGTTTACTTACCAT	0.368																																																	0													100.0	100.0	100.0					4																	183676343		1910	4141	6051	SO:0001583	missense	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4823T>G	4.37:g.183676343T>G	ENSP00000424226:p.Phe1608Cys		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.F1608C	ENST00000511685.1	37	c.4823	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682408	0.47991	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.16897	2.31;2.31	5.28	5.28	0.74379	.	.	.	.	.	T	0.21921	0.0528	L	0.52905	1.665	0.51482	D	0.99992	D	0.58620	0.983	B	0.43783	0.431	T	0.02015	-1.1229	9	0.87932	D	0	.	15.3703	0.74557	0.0:0.0:0.0:1.0	.	1608	Q9P273	TEN3_HUMAN	C	1608	ENSP00000424226:F1608C;ENSP00000385276:F1608C	ENSP00000385276:F1608C	F	+	2	0	ODZ3	183913337	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.864000	0.87037	2.210000	0.71456	0.455000	0.32223	TTT	TENM3	-	NULL		0.368	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	T			183676343	+1	no_errors	ENST00000406950	ensembl	human	known	70_37	missense	SNP	1.000	G
TENM3	55714	genome.wustl.edu	37	4	183720913	183720913	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:183720913C>T	ENST00000511685.1	+	28	7632	c.7509C>T	c.(7507-7509)gcC>gcT	p.A2503A	TENM3_ENST00000406950.2_Silent_p.A2503A			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2503					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCATGCTGGCCGTCAGCCAGG	0.677																																																	0													16.0	20.0	19.0					4																	183720913		2192	4268	6460	SO:0001819	synonymous_variant	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7509C>T	4.37:g.183720913C>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A2503	ENST00000511685.1	37	c.7509	CCDS47165.1	4																																																																																			TENM3	-	NULL		0.677	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	C			183720913	+1	no_errors	ENST00000406950	ensembl	human	known	70_37	silent	SNP	1.000	T
TEX11	56159	genome.wustl.edu	37	X	69945180	69945180	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:69945180G>T	ENST00000395889.2	-	13	1057	c.902C>A	c.(901-903)tCt>tAt	p.S301Y	TEX11_ENST00000374333.2_Missense_Mutation_p.S286Y|TEX11_ENST00000374320.2_5'Flank|TEX11_ENST00000344304.3_Missense_Mutation_p.S301Y	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	301					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.S286F(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAGCCCAGGAGAACTTAAATG	0.323																																																	1	Substitution - Missense(1)	skin(1)											71.0	68.0	69.0					X																	69945180		2202	4297	6499	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.902C>A	X.37:g.69945180G>T	ENSP00000379226:p.Ser301Tyr		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.S301Y	ENST00000395889.2	37	c.902	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	G	9.296	1.051860	0.19827	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.32988	1.43;1.43;1.43	4.62	4.62	0.57501	Tetratricopeptide-like helical (1);	0.259153	0.34314	N	0.004071	T	0.21347	0.0514	N	0.14661	0.345	0.09310	N	1	P;P	0.47604	0.876;0.898	B;P	0.45343	0.346;0.477	T	0.08700	-1.0709	9	.	.	.	-2.2121	11.8529	0.52422	0.0:0.0:1.0:0.0	.	286;301	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	Y	286;301;301	ENSP00000363453:S286Y;ENSP00000379226:S301Y;ENSP00000340995:S301Y	.	S	-	2	0	TEX11	69861905	0.986000	0.35501	0.009000	0.14445	0.119000	0.20118	3.977000	0.56874	2.282000	0.76494	0.513000	0.50165	TCT	TEX11	-	pfam_Meiosis_specific_SPO22		0.323	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	G			69945180	-1	no_errors	ENST00000344304	ensembl	human	known	70_37	missense	SNP	0.018	T
TEX15	56154	genome.wustl.edu	37	8	30700091	30700091	+	Missense_Mutation	SNP	G	G	T	rs138595877	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:30700091G>T	ENST00000256246.2	-	1	6517	c.6443C>A	c.(6442-6444)gCt>gAt	p.A2148D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2148					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCAATTAACAGCTTCATTATA	0.328																																																	0													56.0	57.0	57.0					8																	30700091		2202	4298	6500	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6443C>A	8.37:g.30700091G>T	ENSP00000256246:p.Ala2148Asp			Missense_Mutation	SNP	NULL	p.A2148D	ENST00000256246.2	37	c.6443	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	9.169	1.020646	0.19433	.	.	ENSG00000133863	ENST00000256246	T	0.18016	2.24	5.56	3.66	0.41972	.	0.000000	0.56097	D	0.000025	T	0.31040	0.0784	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	D	0.64410	0.925	T	0.04065	-1.0980	10	0.87932	D	0	.	7.5176	0.27610	0.0783:0.1272:0.677:0.1175	.	2148	Q9BXT5	TEX15_HUMAN	D	2148	ENSP00000256246:A2148D	ENSP00000256246:A2148D	A	-	2	0	TEX15	30819633	0.411000	0.25384	0.993000	0.49108	0.151000	0.21798	1.254000	0.32897	1.346000	0.45694	0.591000	0.81541	GCT	TEX15	-	NULL		0.328	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	G			30700091	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.013	T
TEX15	56154	genome.wustl.edu	37	8	30702941	30702941	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:30702941C>T	ENST00000256246.2	-	1	3667	c.3593G>A	c.(3592-3594)aGc>aAc	p.S1198N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1198					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTACTAGTGCTAGATAAAAA	0.313																																																	0													31.0	31.0	31.0					8																	30702941		2202	4295	6497	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3593G>A	8.37:g.30702941C>T	ENSP00000256246:p.Ser1198Asn			Missense_Mutation	SNP	NULL	p.S1198N	ENST00000256246.2	37	c.3593	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.423421	0.00186	.	.	ENSG00000133863	ENST00000256246	T	0.09538	2.97	5.53	1.88	0.25563	.	0.707186	0.13102	N	0.413717	T	0.03739	0.0106	N	0.01277	-0.915	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39502	-0.9611	10	0.87932	D	0	.	7.1221	0.25450	0.0:0.2721:0.0:0.7279	.	1198	Q9BXT5	TEX15_HUMAN	N	1198	ENSP00000256246:S1198N	ENSP00000256246:S1198N	S	-	2	0	TEX15	30822483	0.646000	0.27295	0.049000	0.19019	0.078000	0.17371	0.732000	0.26072	0.143000	0.18926	-0.471000	0.05019	AGC	TEX15	-	NULL		0.313	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30702941	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.046	T
TEX15	56154	genome.wustl.edu	37	8	30704759	30704759	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:30704759G>T	ENST00000256246.2	-	1	1849	c.1775C>A	c.(1774-1776)tCt>tAt	p.S592Y	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	592					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACACACTGAAGAACTTGCAGT	0.393																																																	0													127.0	120.0	123.0					8																	30704759		2203	4299	6502	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1775C>A	8.37:g.30704759G>T	ENSP00000256246:p.Ser592Tyr			Missense_Mutation	SNP	NULL	p.S592Y	ENST00000256246.2	37	c.1775	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673677	0.47781	.	.	ENSG00000133863	ENST00000256246	T	0.15603	2.41	5.47	5.47	0.80525	.	0.353988	0.24889	N	0.034797	T	0.31734	0.0806	L	0.34521	1.04	0.36655	D	0.87763	D	0.89917	1.0	D	0.76071	0.987	T	0.14896	-1.0456	10	0.87932	D	0	.	15.1862	0.73002	0.0:0.0:1.0:0.0	.	592	Q9BXT5	TEX15_HUMAN	Y	592	ENSP00000256246:S592Y	ENSP00000256246:S592Y	S	-	2	0	TEX15	30824301	0.510000	0.26171	0.952000	0.39060	0.046000	0.14306	1.460000	0.35244	2.721000	0.93114	0.655000	0.94253	TCT	TEX15	-	NULL		0.393	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	G			30704759	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.994	T
TEX15	56154	genome.wustl.edu	37	8	30704948	30704948	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:30704948A>C	ENST00000256246.2	-	1	1660	c.1586T>G	c.(1585-1587)aTt>aGt	p.I529S	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	529					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGAACTCAAAATTTCTATATT	0.318																																																	0													59.0	60.0	60.0					8																	30704948		2199	4292	6491	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1586T>G	8.37:g.30704948A>C	ENSP00000256246:p.Ile529Ser			Missense_Mutation	SNP	NULL	p.I529S	ENST00000256246.2	37	c.1586	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081827	0.36758	.	.	ENSG00000133863	ENST00000256246	T	0.15017	2.46	5.49	0.183	0.15082	.	0.899043	0.09458	N	0.799417	T	0.12433	0.0302	L	0.34521	1.04	0.09310	N	1	B	0.16396	0.017	B	0.18561	0.022	T	0.34030	-0.9845	10	0.87932	D	0	.	5.0623	0.14564	0.6198:0.1443:0.2359:0.0	.	529	Q9BXT5	TEX15_HUMAN	S	529	ENSP00000256246:I529S	ENSP00000256246:I529S	I	-	2	0	TEX15	30824490	0.782000	0.28689	0.024000	0.17045	0.479000	0.33129	1.116000	0.31221	-0.113000	0.11958	0.528000	0.53228	ATT	TEX15	-	NULL		0.318	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	A			30704948	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.013	C
TEX15	56154	genome.wustl.edu	37	8	30705207	30705207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:30705207C>A	ENST00000256246.2	-	1	1401	c.1327G>T	c.(1327-1329)Gaa>Taa	p.E443*	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	443					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAGCAGTTTCTTTATAGTCT	0.333																																																	0													161.0	160.0	160.0					8																	30705207		2203	4300	6503	SO:0001587	stop_gained	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1327G>T	8.37:g.30705207C>A	ENSP00000256246:p.Glu443*			Nonsense_Mutation	SNP	NULL	p.E443*	ENST00000256246.2	37	c.1327	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999291	0.93227	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.61	3.4	0.38934	.	0.839780	0.10404	N	0.678754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.0136	0.14324	0.0:0.6223:0.2402:0.1374	.	.	.	.	X	443	.	ENSP00000256246:E443X	E	-	1	0	TEX15	30824749	0.002000	0.14202	0.004000	0.12327	0.003000	0.03518	0.432000	0.21461	1.476000	0.48215	0.650000	0.86243	GAA	TEX15	-	NULL		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30705207	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	nonsense	SNP	0.002	A
TEX2	55852	genome.wustl.edu	37	17	62290817	62290817	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:62290817C>T	ENST00000583097.1	-	2	933	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	TEX2_ENST00000584379.1_Missense_Mutation_p.R254Q|TEX2_ENST00000258991.3_Missense_Mutation_p.R254Q			Q8IWB9	TEX2_HUMAN	testis expressed 2	254					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ACCTGTGTTTCGGGGCTGTGT	0.488																																																	0													133.0	138.0	137.0					17																	62290817		2203	4300	6503	SO:0001583	missense	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.761G>A	17.37:g.62290817C>T	ENSP00000462665:p.Arg254Gln		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	pfam_DUF2404	p.R254Q	ENST00000583097.1	37	c.761		17	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474314	0.43942	.	.	ENSG00000136478	ENST00000258991	T	0.59364	0.27	6.03	6.03	0.97812	.	0.063493	0.64402	D	0.000005	T	0.74473	0.3721	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.923	T	0.74156	-0.3756	10	0.72032	D	0.01	-9.4977	20.5568	0.99304	0.0:1.0:0.0:0.0	.	254;254	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	Q	254	ENSP00000258991:R254Q	ENSP00000258991:R254Q	R	-	2	0	TEX2	59644549	1.000000	0.71417	0.907000	0.35723	0.716000	0.41182	7.431000	0.80335	2.861000	0.98227	0.655000	0.94253	CGA	TEX2	-	NULL		0.488	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	C	NM_018469		62290817	-1	no_errors	ENST00000258991	ensembl	human	known	70_37	missense	SNP	1.000	T
TEX35	84066	genome.wustl.edu	37	1	178485789	178485789	+	Missense_Mutation	SNP	G	G	A	rs200491990		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:178485789G>A	ENST00000319416.2	+	5	368	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	TEX35_ENST00000367641.3_Missense_Mutation_p.E86K|TEX35_ENST00000367642.3_Intron|TEX35_ENST00000367643.3_Missense_Mutation_p.E86K|TEX35_ENST00000258298.2_Missense_Mutation_p.E10K|TEX35_ENST00000367639.1_Missense_Mutation_p.E94K	NM_032126.4	NP_115502.2			testis expressed 35									p.E86K(1)									TAAACTTCACGAATTTGTGGA	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											114.0	100.0	105.0					1																	178485789		2203	4300	6503	SO:0001583	missense	84066			AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.256G>A	1.37:g.178485789G>A	ENSP00000323795:p.Glu86Lys			Missense_Mutation	SNP	NULL	p.E86K	ENST00000319416.2	37	c.256	CCDS1323.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155503	0.78114	.	.	ENSG00000240021	ENST00000319416;ENST00000258298;ENST00000367643;ENST00000367641;ENST00000367639	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.12	4.19	0.49359	.	0.145433	0.32161	N	0.006499	T	0.27900	0.0687	L	0.50333	1.59	0.32634	N	0.521625	P;P;D	0.56287	0.874;0.95;0.975	B;B;P	0.47827	0.296;0.404;0.558	T	0.38265	-0.9669	10	0.56958	D	0.05	-22.7736	8.8704	0.35311	0.0998:0.0:0.9002:0.0	.	94;86;86	Q5T0J7-2;Q5T0J7-3;Q5T0J7	.;.;CA049_HUMAN	K	86;10;86;86;94	ENSP00000323795:E86K;ENSP00000258298:E10K;ENSP00000356615:E86K;ENSP00000356613:E86K;ENSP00000356611:E94K	ENSP00000258298:E10K	E	+	1	0	C1orf49	176752412	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.748000	0.47483	2.542000	0.85734	0.655000	0.94253	GAA	TEX35	-	NULL		0.433	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX35	HGNC	protein_coding	OTTHUMT00000084917.1	G	NM_032126		178485789	+1	no_errors	ENST00000319416	ensembl	human	known	70_37	missense	SNP	0.998	A
TFCP2	7024	genome.wustl.edu	37	12	51512478	51512478	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:51512478A>C	ENST00000257915.5	-	2	658	c.200T>G	c.(199-201)tTt>tGt	p.F67C	TFCP2_ENST00000548115.1_Missense_Mutation_p.F67C|TFCP2_ENST00000307660.4_Missense_Mutation_p.F67C|TFCP2_ENST00000549867.1_Missense_Mutation_p.F67C	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	67					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CACATATTGAAAAGGCAGGAT	0.388																																																	0													185.0	177.0	180.0					12																	51512478		2203	4300	6503	SO:0001583	missense	7024			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.200T>G	12.37:g.51512478A>C	ENSP00000257915:p.Phe67Cys		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.F67C	ENST00000257915.5	37	c.200	CCDS8808.1	12	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679473	0.88542	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.66	5.66	0.87406	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.996;0.999	D;D;D;D	0.81914	0.995;0.987;0.967;0.978	T	0.71609	-0.4541	10	0.87932	D	0	-16.1711	15.1762	0.72913	1.0:0.0:0.0:0.0	.	67;67;67;67	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	C	67	ENSP00000257915:F67C;ENSP00000304411:F67C;ENSP00000449742:F67C;ENSP00000447991:F67C	ENSP00000257915:F67C	F	-	2	0	TFCP2	49798745	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.232000	0.95325	2.289000	0.77006	0.482000	0.46254	TTT	TFCP2	-	pfam_CP2		0.388	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1	A	NM_005653		51512478	-1	no_errors	ENST00000257915	ensembl	human	known	70_37	missense	SNP	1.000	C
TFDP1	7027	genome.wustl.edu	37	13	114290892	114290892	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:114290892G>T	ENST00000375370.5	+	10	1095	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	TFDP1_ENST00000538138.1_Missense_Mutation_p.D200Y|TFDP1_ENST00000544902.1_Missense_Mutation_p.D200Y	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	295	DCB2.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TGAAATCCACGATGACATAGA	0.512										TSP Lung(29;0.18)																																							0													94.0	95.0	95.0					13																	114290892		2203	4300	6503	SO:0001583	missense	7027			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.883G>T	13.37:g.114290892G>T	ENSP00000364519:p.Asp295Tyr		B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	p.D295Y	ENST00000375370.5	37	c.883	CCDS9538.1	13	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460616	0.84317	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902	T;T;T	0.62364	0.03;0.84;0.2	4.57	4.57	0.56435	Transcription factor DP, C-terminal (1);	0.045684	0.85682	D	0.000000	D	0.83478	0.5263	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.997	D	0.88214	0.2892	10	0.87932	D	0	.	17.3363	0.87282	0.0:0.0:1.0:0.0	.	200;200;200;295	F5H452;B4DLQ9;B7Z569;Q14186	.;.;.;TFDP1_HUMAN	Y	200;295;200	ENSP00000443878:D200Y;ENSP00000364519:D295Y;ENSP00000438450:D200Y	ENSP00000364519:D295Y	D	+	1	0	TFDP1	113338893	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	8.857000	0.92250	2.074000	0.62210	0.491000	0.48974	GAT	TFDP1	-	pfam_Transc_factor_DP_C,pirsf_Transcription_factor_DP_subgr		0.512	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP1	HGNC	protein_coding	OTTHUMT00000045918.3	G	NM_007111		114290892	+1	no_errors	ENST00000375370	ensembl	human	known	70_37	missense	SNP	1.000	T
TFDP1	7027	genome.wustl.edu	37	13	114292057	114292057	+	Intron	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:114292057T>C	ENST00000375370.5	+	11	1218				TFDP1_ENST00000544902.1_Missense_Mutation_p.S282P|TFDP1_ENST00000538138.1_Intron	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1						anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GAACTGCGCGTCATTTTGTTG	0.502										TSP Lung(29;0.18)																																							0																																										SO:0001627	intron_variant	7027			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.1007-76T>C	13.37:g.114292057T>C			B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	p.S282P	ENST00000375370.5	37	c.844	CCDS9538.1	13	.	.	.	.	.	.	.	.	.	.	t	8.023	0.759968	0.15846	.	.	ENSG00000198176	ENST00000544902	T	0.50277	0.75	1.95	0.677	0.17964	.	.	.	.	.	T	0.29028	0.0721	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18023	-1.0350	8	0.35671	T	0.21	.	3.7261	0.08476	0.0:0.2157:0.0:0.7843	.	282	F5H452	.	P	282	ENSP00000438450:S282P	ENSP00000438450:S282P	S	+	1	0	TFDP1	113340058	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.047000	0.03521	0.042000	0.15717	0.172000	0.16884	TCA	TFDP1	-	pirsf_Transcription_factor_DP_subgr		0.502	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP1	HGNC	protein_coding	OTTHUMT00000045918.3	T	NM_007111		114292057	+1	no_errors	ENST00000544902	ensembl	human	known	70_37	missense	SNP	0.000	C
TFDP1	7027	genome.wustl.edu	37	13	114294630	114294630	+	3'UTR	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:114294630G>T	ENST00000375370.5	+	0	1493				TFDP1_ENST00000538138.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1						anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTAGCGAAAAGAAACTTTTTT	0.438										TSP Lung(29;0.18)																																							0													9.0	9.0	9.0					13																	114294630		2188	4275	6463	SO:0001624	3_prime_UTR_variant	7027			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.*48G>T	13.37:g.114294630G>T			B4DLQ9|Q5JSB4|Q8IZL5	RNA	SNP	-	NULL	ENST00000375370.5	37	NULL	CCDS9538.1	13																																																																																			TFDP1	-	-		0.438	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP1	HGNC	protein_coding	OTTHUMT00000045918.3	G	NM_007111		114294630	+1	no_errors	ENST00000494812	ensembl	human	known	70_37	rna	SNP	0.176	T
TFEC	22797	genome.wustl.edu	37	7	115580805	115580805	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:115580805A>G	ENST00000265440.7	-	8	1024	c.844T>C	c.(844-846)Ttt>Ctt	p.F282L	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Missense_Mutation_p.F215L|TFEC_ENST00000320239.7_Missense_Mutation_p.F253L	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	282	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GGATCAGAAAAGGCTATAGCT	0.443																																																	0													175.0	165.0	169.0					7																	115580805		2203	4300	6503	SO:0001583	missense	22797			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.844T>C	7.37:g.115580805A>G	ENSP00000265440:p.Phe282Leu		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.F282L	ENST00000265440.7	37	c.844	CCDS5762.1	7	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477298	0.84640	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.78707	-1.2;-1.2;-1.2	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	L	0.48877	1.53	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.80764	0.928;0.994	T	0.79598	-0.1737	10	0.18710	T	0.47	-10.8276	15.2992	0.73933	1.0:0.0:0.0:0.0	.	253;282	O14948-2;O14948	.;TFEC_HUMAN	L	282;215;253	ENSP00000265440:F282L;ENSP00000387650:F215L;ENSP00000318676:F253L	ENSP00000265440:F282L	F	-	1	0	TFEC	115368041	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.609000	0.90898	2.012000	0.59069	0.528000	0.53228	TTT	TFEC	-	pfam_bHLH_ZIP_TF_MiT/TFE		0.443	TFEC-001	KNOWN	basic|CCDS	protein_coding	TFEC	HGNC	protein_coding	OTTHUMT00000059839.4	A	NM_012252		115580805	-1	no_errors	ENST00000265440	ensembl	human	known	70_37	missense	SNP	1.000	G
TGFBI	7045	genome.wustl.edu	37	5	135390546	135390546	+	Missense_Mutation	SNP	G	G	A	rs376761086	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:135390546G>A	ENST00000442011.2	+	10	1567	c.1406G>A	c.(1405-1407)cGt>cAt	p.R469H	TGFBI_ENST00000305126.8_Missense_Mutation_p.R469H	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	469	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTGTTTATCGTAATGTAAGT	0.428													G|||	9	0.00179712	0.0	0.0	5008	,	,		18024	0.0		0.0	False		,,,				2504	0.0092																0								G	HIS/ARG	0,3698		0,0,1849	167.0	166.0	166.0		1406	5.8	1.0	5		166	2,8164		0,2,4081	no	missense	TGFBI	NM_000358.2	29	0,2,5930	AA,AG,GG		0.0245,0.0,0.0169	probably-damaging	469/684	135390546	2,11862	1849	4083	5932	SO:0001583	missense	7045			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1406G>A	5.37:g.135390546G>A	ENSP00000416330:p.Arg469His		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.R469H	ENST00000442011.2	37	c.1406	CCDS47266.1	5	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033104	0.93575	0.0	2.45E-4	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.72725	-0.68;-0.68	5.83	5.83	0.93111	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.85562	0.1228	10	0.48119	T	0.1	-0.4892	20.1184	0.97949	0.0:0.0:1.0:0.0	.	202;469	B9ZVW9;Q15582	.;BGH3_HUMAN	H	469;202;469	ENSP00000416330:R469H;ENSP00000306306:R469H	ENSP00000306306:R469H	R	+	2	0	TGFBI	135418445	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.827000	0.99397	2.769000	0.95229	0.655000	0.94253	CGT	TGFBI	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain		0.428	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	HGNC	protein_coding	OTTHUMT00000372108.1	G			135390546	+1	no_errors	ENST00000305126	ensembl	human	known	70_37	missense	SNP	1.000	A
TGIF2LX	90316	genome.wustl.edu	37	X	89177609	89177609	+	Silent	SNP	G	G	A	rs150815384	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:89177609G>A	ENST00000561129.2	+	1	655	c.525G>A	c.(523-525)ccG>ccA	p.P175P	TGIF2LX_ENST00000283891.5_Silent_p.P175P			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AACCAGATCCGGAGTCGGCCC	0.572													G|||	4	0.0010596	0.0015	0.0	3775	,	,		11989	0.0		0.0	False		,,,				2504	0.002																0								G		18,3817		0,15,3,1617,568	42.0	48.0	46.0		525	0.6	0.0	X	dbSNP_134	46	0,6724		0,0,0,2426,1872	no	coding-synonymous	TGIF2LX	NM_138960.3		0,15,3,4043,2440	AA,AG,A,GG,G		0.0,0.4694,0.1705		175/242	89177609	18,10541	2203	4298	6501	SO:0001819	synonymous_variant	90316			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.525G>A	X.37:g.89177609G>A			Q5JRM9|Q8TD48	Silent	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P175	ENST00000561129.2	37	c.525	CCDS14459.1	X																																																																																			TGIF2LX	-	NULL		0.572	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	G	NM_138960		89177609	+1	no_errors	ENST00000283891	ensembl	human	known	70_37	silent	SNP	0.002	A
TGM4	7047	genome.wustl.edu	37	3	44952543	44952543	+	Missense_Mutation	SNP	C	C	T	rs201751613		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:44952543C>T	ENST00000296125.4	+	12	1768	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	567					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCATCATTGCGGAAATTGTG	0.453																																																	0													137.0	126.0	129.0					3																	44952543		2203	4300	6503	SO:0001583	missense	7047			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1700C>T	3.37:g.44952543C>T	ENSP00000296125:p.Ala567Val		Q16707|Q96QN4	Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A567V	ENST00000296125.4	37	c.1700	CCDS2723.1	3	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794268	0.50102	.	.	ENSG00000163810	ENST00000296125	T	0.78595	-1.19	2.88	0.898	0.19264	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.143965	0.29987	U	0.010690	T	0.50701	0.1631	N	0.08118	0	0.09310	N	1	P	0.50443	0.935	B	0.37508	0.252	T	0.53287	-0.8460	10	0.66056	D	0.02	.	6.252	0.20852	0.0:0.7035:0.1871:0.1094	.	567	P49221	TGM4_HUMAN	V	567	ENSP00000296125:A567V	ENSP00000296125:A567V	A	+	2	0	TGM4	44927547	0.547000	0.26465	0.000000	0.03702	0.015000	0.08874	0.853000	0.27777	0.036000	0.15547	0.563000	0.77884	GCG	TGM4	-	superfamily_Transglutaminase_C		0.453	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	HGNC	protein_coding	OTTHUMT00000256755.2	C	NM_003241		44952543	+1	no_errors	ENST00000296125	ensembl	human	known	70_37	missense	SNP	0.023	T
TGM7	116179	genome.wustl.edu	37	15	43584214	43584214	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:43584214T>C	ENST00000452443.2	-	4	525	c.521A>G	c.(520-522)gAa>gGa	p.E174G		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	174					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GATGAATCTTTCATGACCCTT	0.502																																																	0													103.0	87.0	92.0					15																	43584214		2201	4299	6500	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.521A>G	15.37:g.43584214T>C	ENSP00000389466:p.Glu174Gly			Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E174G	ENST00000452443.2	37	c.521	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	T	13.28	2.189399	0.38707	.	.	ENSG00000159495	ENST00000452443	D	0.88896	-2.44	5.5	4.36	0.52297	.	0.672524	0.15999	N	0.234381	D	0.86070	0.5845	M	0.67397	2.05	0.09310	N	1	B	0.28713	0.22	B	0.25140	0.058	T	0.73509	-0.3960	10	0.25106	T	0.35	-4.0171	10.8446	0.46737	0.0:0.0:0.165:0.835	.	174	Q96PF1	TGM7_HUMAN	G	174	ENSP00000389466:E174G	ENSP00000389466:E174G	E	-	2	0	TGM7	41371506	0.000000	0.05858	0.269000	0.24586	0.955000	0.61496	-0.054000	0.11826	1.007000	0.39238	0.533000	0.62120	GAA	TGM7	-	NULL		0.502	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	HGNC	protein_coding	OTTHUMT00000432489.1	T	NM_052955		43584214	-1	no_errors	ENST00000452443	ensembl	human	known	70_37	missense	SNP	0.001	C
THADA	63892	genome.wustl.edu	37	2	43800129	43800129	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:43800129G>C	ENST00000405006.4	-	12	2083	c.1732C>G	c.(1732-1734)Caa>Gaa	p.Q578E	THADA_ENST00000405975.2_Missense_Mutation_p.Q578E|THADA_ENST00000415080.2_Missense_Mutation_p.Q288E|THADA_ENST00000330266.7_Missense_Mutation_p.Q288E|THADA_ENST00000403856.1_Missense_Mutation_p.Q578E|THADA_ENST00000404790.1_Missense_Mutation_p.Q578E|THADA_ENST00000402360.2_Missense_Mutation_p.Q578E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	578										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GATTGCTCTTGTCCTGAAAGC	0.388																																																	0													63.0	61.0	61.0					2																	43800129		1880	4101	5981	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1732C>G	2.37:g.43800129G>C	ENSP00000385995:p.Gln578Glu		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.Q578E	ENST00000405006.4	37	c.1732	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.843126	0.00568	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.28255	1.63;3.05;2.86;3.05;1.62;1.64;1.63	3.46	0.672	0.17935	Armadillo-type fold (1);	0.799119	0.10339	N	0.686596	T	0.15046	0.0363	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.24920	0.114;0.015;0.009;0.001;0.001	B;B;B;B;B	0.24394	0.053;0.017;0.01;0.001;0.0	T	0.33727	-0.9857	10	0.18710	T	0.47	.	5.4711	0.16670	0.3687:0.0:0.6313:0.0	.	578;578;578;288;578	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	E	288;578;578;288;578;578;578;578	ENSP00000331105:Q288E;ENSP00000386088:Q578E;ENSP00000416048:Q288E;ENSP00000385995:Q578E;ENSP00000385441:Q578E;ENSP00000384266:Q578E;ENSP00000385469:Q578E	ENSP00000331105:Q288E	Q	-	1	0	THADA	43653633	0.001000	0.12720	0.001000	0.08648	0.096000	0.18686	0.530000	0.23036	0.136000	0.18733	0.591000	0.81541	CAA	THADA	-	superfamily_ARM-type_fold		0.388	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	G	NM_022065		43800129	-1	no_errors	ENST00000405006	ensembl	human	known	70_37	missense	SNP	0.001	C
THAP7	80764	genome.wustl.edu	37	22	21357492	21357492	+	5'Flank	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:21357492G>T	ENST00000215742.4	-	0	0				THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_5'Flank|THAP7-AS1_ENST00000436079.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-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;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGCATAGAATGAAGTTTATAT	0.488																																																	0																																										SO:0001631	upstream_gene_variant	439931			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879		22.37:g.21357492G>T	Exception_encountered		B2RD97|D3DX40	RNA	SNP	-	NULL	ENST00000215742.4	37	NULL	CCDS13787.1	22																																																																																			THAP7-AS1	-	-		0.488	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7-AS1	HGNC	protein_coding	OTTHUMT00000320405.1	G	NM_030573		21357492	+1	no_errors	ENST00000429962	ensembl	human	known	70_37	rna	SNP	0.003	T
THAP9	79725	genome.wustl.edu	37	4	83838284	83838284	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:83838284C>T	ENST00000302236.5	+	5	970	c.919C>T	c.(919-921)Ctt>Ttt	p.L307F	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	307					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GGACTTTGGTCTTGGAAAACT	0.408																																																	0													142.0	131.0	135.0					4																	83838284		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.919C>T	4.37:g.83838284C>T	ENSP00000305533:p.Leu307Phe		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.L307F	ENST00000302236.5	37	c.919	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	C	6.672	0.492494	0.12702	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.37915	1.17	3.7	2.84	0.33178	.	0.469245	0.15977	N	0.235485	T	0.30885	0.0779	L	0.40543	1.245	0.58432	D	0.999997	P	0.44090	0.826	B	0.44315	0.446	T	0.06409	-1.0828	10	0.52906	T	0.07	-17.4675	6.7412	0.23437	0.1902:0.5934:0.2164:0.0	.	307	Q9H5L6	THAP9_HUMAN	F	307	ENSP00000305533:L307F	ENSP00000305533:L307F	L	+	1	0	THAP9	84057308	1.000000	0.71417	0.923000	0.36655	0.658000	0.38924	2.050000	0.41297	1.124000	0.41980	0.650000	0.86243	CTT	THAP9	-	NULL		0.408	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	C	NM_024672		83838284	+1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	0.866	T
THEG	51298	genome.wustl.edu	37	19	375903	375903	+	Missense_Mutation	SNP	C	C	A	rs559132137		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:375903C>A	ENST00000342640.4	-	1	110	c.68G>T	c.(67-69)aGg>aTg	p.R23M	THEG_ENST00000346878.2_Missense_Mutation_p.R23M	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	23					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTCCTGCTCCCTTTCCGACCT	0.687																																																	0													38.0	39.0	38.0					19																	375903		2203	4298	6501	SO:0001583	missense	51298			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.68G>T	19.37:g.375903C>A	ENSP00000340088:p.Arg23Met		A6NMJ8	Missense_Mutation	SNP	smart_THEG	p.R23M	ENST00000342640.4	37	c.68	CCDS12025.1	19	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100985	0.20552	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.25414	1.94;1.8	3.4	-6.18	0.02085	.	3.821300	0.00447	N	0.000089	T	0.13329	0.0323	N	0.19112	0.55	0.09310	N	1	B;B	0.18610	0.029;0.029	B;B	0.11329	0.006;0.006	T	0.15492	-1.0435	10	0.72032	D	0.01	-26.079	0.4298	0.00469	0.2626:0.281:0.1298:0.3266	.	23;23	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	M	23	ENSP00000340088:R23M;ENSP00000264820:R23M	ENSP00000340088:R23M	R	-	2	0	THEG	326903	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.884000	0.00713	-1.185000	0.02716	-0.263000	0.10527	AGG	THEG	-	NULL		0.687	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THEG	HGNC	protein_coding	OTTHUMT00000384431.2	C			375903	-1	no_errors	ENST00000342640	ensembl	human	known	70_37	missense	SNP	0.000	A
THG1L	54974	genome.wustl.edu	37	5	157162884	157162884	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:157162884T>C	ENST00000231198.7	+	4	813	c.569T>C	c.(568-570)tTc>tCc	p.F190S	AC026407.1_ENST00000599823.1_5'Flank	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	190					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATACAGTTTTCTGGGCACTT	0.318																																																	0													76.0	76.0	76.0					5																	157162884		2203	4300	6503	SO:0001583	missense	54974			AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.569T>C	5.37:g.157162884T>C	ENSP00000231198:p.Phe190Ser		D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Missense_Mutation	SNP	pfam_tRNAHis_GuaTrfase_cat,superfamily_Restrct_endonuc-II-like,pirsf_tRNAHis_GuaTrfase_Thg1	p.F190S	ENST00000231198.7	37	c.569	CCDS4341.1	5	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419715	0.83559	.	.	ENSG00000113272	ENST00000231198;ENST00000448153	T	0.56103	0.48	5.89	4.7	0.59300	.	0.045571	0.85682	D	0.000000	T	0.79387	0.4437	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.79108	0.992;0.959	D	0.84217	0.0459	10	0.87932	D	0	-17.7269	12.2921	0.54825	0.1271:0.0:0.0:0.8729	.	58;190	B4E366;Q9NWX6	.;THG1_HUMAN	S	190;65	ENSP00000231198:F190S	ENSP00000231198:F190S	F	+	2	0	THG1L	157095462	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.520000	0.67080	1.012000	0.39366	0.533000	0.62120	TTC	THG1L	-	pfam_tRNAHis_GuaTrfase_cat,pirsf_tRNAHis_GuaTrfase_Thg1		0.318	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THG1L	HGNC	protein_coding	OTTHUMT00000252579.2	T	NM_017872		157162884	+1	no_errors	ENST00000231198	ensembl	human	known	70_37	missense	SNP	1.000	C
THOC2	57187	genome.wustl.edu	37	X	122754210	122754210	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:122754210G>T	ENST00000245838.8	-	32	4307				THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000355725.4_Intron|THOC2_ENST00000491737.1_Intron	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGATACAACAGAAGCTGCATG	0.433																																																	0																																										SO:0001627	intron_variant	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4275+547C>A	X.37:g.122754210G>T			A6NM50|Q5JZ12|Q6IN92|Q9H8I6	RNA	SNP	-	NULL	ENST00000245838.8	37	NULL	CCDS43988.1	X																																																																																			THOC2	-	-		0.433	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	G			122754210	-1	no_errors	ENST00000464992	ensembl	human	known	70_37	rna	SNP	1.000	T
THOC3	84321	genome.wustl.edu	37	5	175392151	175392151	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:175392151G>A	ENST00000265097.4	-	3	522	c.432C>T	c.(430-432)aaC>aaT	p.N144N	THOC3_ENST00000514861.1_Intron|THOC3_ENST00000510300.1_5'UTR|THOC3_ENST00000513482.1_Silent_p.N144N	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	144					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		AGATATTAATGTTCTCCCCTG	0.443																																																	0													44.0	49.0	47.0					5																	175392151		2186	4261	6447	SO:0001819	synonymous_variant	84321			BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"""WD repeat domain containing"", ""THO complex subunits"""	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.432C>T	5.37:g.175392151G>A			Q6NZ53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T92I	ENST00000265097.4	37	c.275	CCDS4397.1	5																																																																																			THOC3	-	pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.443	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	HGNC	protein_coding	OTTHUMT00000253148.1	G			175392151	-1	no_errors	ENST00000513006	ensembl	human	known	70_37	missense	SNP	1.000	A
THSD7A	221981	genome.wustl.edu	37	7	11450835	11450835	+	Splice_Site	SNP	G	G	A	rs200932314		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:11450835G>A	ENST00000423059.4	-	19	4048	c.3797C>T	c.(3796-3798)gCg>gTg	p.A1266V	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1266	TSP type-1 12. {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)		TCCACCTACCGCTTCACAATA	0.438										HNSCC(18;0.044)																																							0													164.0	154.0	157.0					7																	11450835		2029	4174	6203	SO:0001630	splice_region_variant	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.3798+1C>T	7.37:g.11450835G>A				Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.A1266V	ENST00000423059.4	37	c.3797	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140528	0.37825	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61158	0.13	5.81	4.66	0.58398	.	0.091907	0.85682	D	0.000000	T	0.37544	0.1007	N	0.08118	0	0.26387	N	0.976649	B	0.23891	0.093	B	0.24848	0.056	T	0.20371	-1.0277	10	0.27785	T	0.31	.	13.3715	0.60715	0.0:0.0:0.1319:0.8681	.	1266	Q9UPZ6	THS7A_HUMAN	V	1266	ENSP00000406482:A1266V	ENSP00000262042:A1266V	A	-	2	0	THSD7A	11417360	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	4.169000	0.58223	1.025000	0.39708	-0.346000	0.07831	GCG	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.438	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2	Missense_Mutation	11450835	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	1.000	A
TIAM1	7074	genome.wustl.edu	37	21	32537277	32537277	+	Splice_Site	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:32537277A>C	ENST00000286827.3	-	17	3463		c.e17+1		TIAM1_ENST00000541036.1_Splice_Site	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1						apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AAAATCTCTCACCTTGCTGCT	0.522																																																	0													102.0	92.0	96.0					21																	32537277		2203	4300	6503	SO:0001630	splice_region_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2991+1T>G	21.37:g.32537277A>C			B7ZLR6|F5GZ53|Q17RT7	Splice_Site	SNP	-	e13+2	ENST00000286827.3	37	c.2991+2	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987786	0.74589	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4821	0.55850	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TIAM1	31459148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.094000	0.64523	1.949000	0.56562	0.533000	0.62120	.	TIAM1	-	-		0.522	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	A	NM_003253	Intron	32537277	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	splice_site	SNP	1.000	C
TIAM2	26230	genome.wustl.edu	37	6	155565812	155565812	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:155565812T>G	ENST00000461783.3	+	20	4711	c.3438T>G	c.(3436-3438)agT>agG	p.S1146R	TIAM2_ENST00000456877.2_Missense_Mutation_p.S458R|TIAM2_ENST00000456144.1_Missense_Mutation_p.S1146R|TIAM2_ENST00000529824.2_Missense_Mutation_p.S1146R|TIAM2_ENST00000275246.7_Missense_Mutation_p.S71R|TIAM2_ENST00000318981.5_Missense_Mutation_p.S1146R|TIAM2_ENST00000528391.2_Missense_Mutation_p.S482R|TIAM2_ENST00000360366.4_Missense_Mutation_p.S1170R|TIAM2_ENST00000367174.2_Missense_Mutation_p.S522R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1146	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TTTTTGGAAGTTTGCCAGAGA	0.453																																																	0													160.0	155.0	157.0					6																	155565812		2203	4300	6503	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3438T>G	6.37:g.155565812T>G	ENSP00000437188:p.Ser1146Arg		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.S1146R	ENST00000461783.3	37	c.3438	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134665	0.77662	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.03	4.93	-2.64	0.06114	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	L	0.35341	1.055	0.40040	D	0.975645	D;D;D;D	0.89917	0.992;1.0;1.0;1.0	D;D;D;D	0.91635	0.969;0.999;0.999;0.999	T	0.67023	-0.5775	10	0.87932	D	0	.	13.8458	0.63466	0.0:0.5853:0.0:0.4147	.	482;1146;1170;1146	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	R	1146;1392;1146;1146;1146;522;1170;1146;458;482;71;84	ENSP00000437188:S1146R;ENSP00000434901:S1146R;ENSP00000407746:S1146R;ENSP00000327315:S1146R;ENSP00000356142:S522R;ENSP00000353528:S1170R;ENSP00000433348:S1146R;ENSP00000407183:S458R;ENSP00000435335:S482R;ENSP00000275246:S71R;ENSP00000431269:S84R	ENSP00000275246:S71R	S	+	3	2	TIAM2	155607504	0.709000	0.27886	0.722000	0.30670	0.999000	0.98932	-0.038000	0.12144	-0.401000	0.07644	0.533000	0.62120	AGT	TIAM2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.453	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	T	NM_012454		155565812	+1	no_errors	ENST00000456144	ensembl	human	known	70_37	missense	SNP	0.968	G
TIMELESS	8914	genome.wustl.edu	37	12	56815544	56815544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:56815544G>A	ENST00000553532.1	-	22	2842	c.2692C>T	c.(2692-2694)Cag>Tag	p.Q898*	TIMELESS_ENST00000229201.4_Nonsense_Mutation_p.Q897*|TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.Q395*					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AAAAGCCGCTGCAGCTCCAAC	0.502																																																	0													127.0	129.0	129.0					12																	56815544		2203	4300	6503	SO:0001587	stop_gained	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2692C>T	12.37:g.56815544G>A	ENSP00000450607:p.Gln898*			Nonsense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.Q898*	ENST00000553532.1	37	c.2692	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	G	41	8.763458	0.98943	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	.	.	.	5.29	5.29	0.74685	.	0.442225	0.24366	N	0.039145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-2.8245	18.0809	0.89441	0.0:0.0:1.0:0.0	.	.	.	.	X	897;898;395	.	ENSP00000229201:Q898X	Q	-	1	0	TIMELESS	55101811	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.763000	0.47605	2.653000	0.90120	0.555000	0.69702	CAG	TIMELESS	-	pfam_TIMELESS_C		0.502	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	G	NM_003920		56815544	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TJP2	9414	genome.wustl.edu	37	9	71867734	71867734	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:71867734G>A	ENST00000377245.4	+	22	3533	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	TJP2_ENST00000348208.4_Missense_Mutation_p.E962K|TJP2_ENST00000539225.1_Missense_Mutation_p.E1140K|TJP2_ENST00000535702.1_Missense_Mutation_p.E1076K|TJP2_ENST00000453658.2_Missense_Mutation_p.E939K	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1109					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACCACAGATCGAAATTGCCCA	0.493																																																	0													53.0	49.0	50.0					9																	71867734		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3325G>A	9.37:g.71867734G>A	ENSP00000366453:p.Glu1109Lys		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.E1140K	ENST00000377245.4	37	c.3418	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203997	0.79127	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000535702;ENST00000539225	T;T;T;T;T	0.21543	2.91;2.0;2.91;2.52;2.01	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	M	0.69823	2.125	0.25605	N	0.986559	D;D;B;D;D	0.89917	1.0;1.0;0.001;0.999;0.997	D;D;B;D;P	0.91635	0.996;0.999;0.0;0.985;0.793	T	0.50566	-0.8813	10	0.06236	T	0.91	.	18.3907	0.90483	0.0:0.0:1.0:0.0	.	1140;1076;939;962;1109	F5H301;F5H886;B7Z2R3;Q9UDY2-2;Q9UDY2	.;.;.;.;ZO2_HUMAN	K	939;1109;962;1076;1140	ENSP00000392178:E939K;ENSP00000366453:E1109K;ENSP00000345893:E962K;ENSP00000442090:E1076K;ENSP00000438262:E1140K	ENSP00000345893:E962K	E	+	1	0	TJP2	71057554	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	9.178000	0.94855	2.319000	0.78375	0.455000	0.32223	GAA	TJP2	-	NULL		0.493	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	G	NM_201629		71867734	+1	no_errors	ENST00000539225	ensembl	human	known	70_37	missense	SNP	1.000	A
TJP3	27134	genome.wustl.edu	37	19	3747907	3747907	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:3747907G>A	ENST00000541714.2	+	19	2900	c.2438G>A	c.(2437-2439)gGc>gAc	p.G813D	TJP3_ENST00000587686.1_Missense_Mutation_p.G832D|TJP3_ENST00000539908.2_Missense_Mutation_p.G777D|TJP3_ENST00000382008.3_Missense_Mutation_p.G827D|TJP3_ENST00000262968.9_Missense_Mutation_p.G846D|TJP3_ENST00000589378.1_Missense_Mutation_p.G822D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	813					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGGCGAGGGCGGCGCGTAC	0.692																																																	0													36.0	32.0	33.0					19																	3747907		2202	4299	6501	SO:0001583	missense	27134			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2438G>A	19.37:g.3747907G>A	ENSP00000439278:p.Gly813Asp		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens	p.G846D	ENST00000541714.2	37	c.2537	CCDS32873.2	19	.	.	.	.	.	.	.	.	.	.	G	13.75	2.328881	0.41197	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.10288	2.89;3.05;2.9;2.97	3.35	3.35	0.38373	.	0.211787	0.40818	N	0.001011	T	0.19846	0.0477	M	0.79258	2.445	0.53005	D	0.999964	P;P;P;P	0.44816	0.844;0.844;0.759;0.844	P;P;B;P	0.46275	0.51;0.51;0.312;0.51	T	0.03221	-1.1059	10	0.87932	D	0	.	11.4357	0.50066	0.0:0.1838:0.8162:0.0	.	832;846;827;813	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	D	813;777;827;846	ENSP00000439278:G813D;ENSP00000439991:G777D;ENSP00000371438:G827D;ENSP00000262968:G846D	ENSP00000262968:G846D	G	+	2	0	TJP3	3698907	1.000000	0.71417	0.981000	0.43875	0.013000	0.08279	4.861000	0.62969	1.410000	0.46936	0.511000	0.50034	GGC	TJP3	-	NULL		0.692	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP3	HGNC	protein_coding	OTTHUMT00000453434.1	G			3747907	+1	no_errors	ENST00000262968	ensembl	human	known	70_37	missense	SNP	1.000	A
TLL1	7092	genome.wustl.edu	37	4	167021905	167021905	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:167021905G>T	ENST00000061240.2	+	21	3566	c.2919G>T	c.(2917-2919)gaG>gaT	p.E973D	TLL1_ENST00000507499.1_Missense_Mutation_p.E996D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	973	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CACCAGAAGAGATTTATTCAA	0.333																																																	0													129.0	136.0	134.0					4																	167021905		2203	4300	6503	SO:0001583	missense	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2919G>T	4.37:g.167021905G>T	ENSP00000061240:p.Glu973Asp		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.E973D	ENST00000061240.2	37	c.2919	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393618	0.42410	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.17370	2.28;2.28	5.49	-1.84	0.07809	CUB (5);	0.065778	0.64402	U	0.000011	T	0.12774	0.0310	L	0.39692	1.235	0.80722	D	1	P;P	0.43857	0.819;0.656	B;B	0.42882	0.401;0.325	T	0.17048	-1.0382	10	0.13108	T	0.6	.	12.317	0.54962	0.7301:0.0:0.2699:0.0	.	996;973	E9PD25;O43897	.;TLL1_HUMAN	D	973;996	ENSP00000061240:E973D;ENSP00000426082:E996D	ENSP00000061240:E973D	E	+	3	2	TLL1	167241355	0.996000	0.38824	0.994000	0.49952	0.953000	0.61014	0.475000	0.22164	-0.180000	0.10637	0.591000	0.81541	GAG	TLL1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB		0.333	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	G			167021905	+1	no_errors	ENST00000061240	ensembl	human	known	70_37	missense	SNP	0.935	T
TLN1	7094	genome.wustl.edu	37	9	35699324	35699324	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:35699324A>C	ENST00000314888.9	-	51	7228				TLN1_ENST00000540444.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						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)			AGGGTTTTCCATCCGTCCCTG	0.552																																																	0													122.0	93.0	103.0					9																	35699324		2203	4300	6503	SO:0001627	intron_variant	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.6874+28T>G	9.37:g.35699324A>C			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	RNA	SNP	-	NULL	ENST00000314888.9	37	NULL	CCDS35009.1	9																																																																																			TLN1	-	-		0.552	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	A	NM_006289		35699324	-1	no_errors	ENST00000489255	ensembl	human	known	70_37	rna	SNP	0.148	C
TLR10	81793	genome.wustl.edu	37	4	38775990	38775990	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:38775990G>T	ENST00000308973.4	-	4	1827	c.1222C>A	c.(1222-1224)Cta>Ata	p.L408I	TLR10_ENST00000506111.1_Missense_Mutation_p.L408I|TLR10_ENST00000361424.2_Missense_Mutation_p.L408I|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.L408I	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	408					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TGTTGTAATAGATTTTGACTC	0.353																																																	0													62.0	66.0	65.0					4																	38775990		2203	4299	6502	SO:0001583	missense	81793			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1222C>A	4.37:g.38775990G>T	ENSP00000308925:p.Leu408Ile		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom	p.L408I	ENST00000308973.4	37	c.1222	CCDS3445.1	4	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448602	0.26074	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.17	4.32	0.51571	.	0.000000	0.38217	N	0.001764	T	0.34919	0.0914	M	0.74881	2.28	0.09310	N	1	P	0.42649	0.786	P	0.49226	0.603	T	0.17745	-1.0359	10	0.33940	T	0.23	.	6.5819	0.22598	0.2078:0.1381:0.6542:0.0	.	408	Q9BXR5	TLR10_HUMAN	I	408	ENSP00000308925:L408I;ENSP00000421483:L408I;ENSP00000354459:L408I;ENSP00000424923:L408I	ENSP00000308925:L408I	L	-	1	2	TLR10	38452385	0.073000	0.21202	0.610000	0.28997	0.790000	0.44656	0.520000	0.22878	1.146000	0.42352	0.585000	0.79938	CTA	TLR10	-	pirsf_Toll-like_receptor		0.353	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	G			38775990	-1	no_errors	ENST00000308973	ensembl	human	known	70_37	missense	SNP	0.064	T
TLR2	7097	genome.wustl.edu	37	4	154625158	154625158	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:154625158C>A	ENST00000260010.6	+	1	2507	c.1099C>A	c.(1099-1101)Ctc>Atc	p.L367I		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	367					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	ATACTTGGATCTCAGTGAAAA	0.328																																																	0													34.0	37.0	36.0					4																	154625158		2202	4296	6498	SO:0001583	missense	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1099C>A	4.37:g.154625158C>A	ENSP00000260010:p.Leu367Ile		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1	p.L367I	ENST00000260010.6	37	c.1099	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887142	0.52014	.	.	ENSG00000137462	ENST00000260010	T	0.68624	-0.34	6.06	6.06	0.98353	.	0.071608	0.64402	D	0.000020	D	0.82797	0.5115	M	0.81682	2.555	0.47037	D	0.999291	P	0.41748	0.761	P	0.57244	0.816	T	0.82386	-0.0483	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	367	O60603	TLR2_HUMAN	I	367	ENSP00000260010:L367I	ENSP00000260010:L367I	L	+	1	0	TLR2	154844608	0.997000	0.39634	1.000000	0.80357	0.819000	0.46315	2.323000	0.43823	2.882000	0.98803	0.655000	0.94253	CTC	TLR2	-	smart_Leu-rich_rpt_typical-subtyp,pirsf_Toll-like_receptor		0.328	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	C			154625158	+1	no_errors	ENST00000260010	ensembl	human	known	70_37	missense	SNP	1.000	A
TLR4	7099	genome.wustl.edu	37	9	120476131	120476131	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:120476131T>C	ENST00000355622.6	+	3	1826	c.1725T>C	c.(1723-1725)aaT>aaC	p.N575N	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.N535N	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	575					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTTTCTTAAATCTTACTCAGA	0.413																																																	0													75.0	66.0	69.0					9																	120476131		2203	4300	6503	SO:0001819	synonymous_variant	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1725T>C	9.37:g.120476131T>C			A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.N575	ENST00000355622.6	37	c.1725	CCDS6818.1	9																																																																																			TLR4	-	pirsf_Toll-like_receptor		0.413	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	T	NM_138554		120476131	+1	no_errors	ENST00000355622	ensembl	human	known	70_37	silent	SNP	0.999	C
TLR8	51311	genome.wustl.edu	37	X	12937616	12937616	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:12937616C>A	ENST00000218032.6	+	2	544	c.457C>A	c.(457-459)Cta>Ata	p.L153I	TLR8_ENST00000311912.5_Missense_Mutation_p.L171I	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	153					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AGAACTTAGTCTAATTCAAAA	0.363																																																	0													59.0	61.0	60.0					X																	12937616		2203	4300	6503	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.457C>A	X.37:g.12937616C>A	ENSP00000218032:p.Leu153Ile		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L153I	ENST00000218032.6	37	c.457	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690500	0.29962	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.01705	4.68;4.68	5.09	3.2	0.36748	.	0.000000	0.32819	N	0.005608	T	0.04182	0.0116	M	0.77313	2.365	0.37410	D	0.9132	D;D	0.55800	0.973;0.973	P;P	0.47786	0.557;0.557	T	0.32268	-0.9913	10	0.87932	D	0	.	6.1704	0.20414	0.0:0.6809:0.1504:0.1687	.	153;171	Q9NR97;D1CS70	TLR8_HUMAN;.	I	153;171	ENSP00000218032:L153I;ENSP00000312082:L171I	ENSP00000218032:L153I	L	+	1	2	TLR8	12847537	0.021000	0.18746	0.184000	0.23157	0.038000	0.13279	0.349000	0.20055	0.947000	0.37659	0.523000	0.50628	CTA	TLR8	-	NULL		0.363	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	C	NM_016610		12937616	+1	no_errors	ENST00000218032	ensembl	human	known	70_37	missense	SNP	0.606	A
TLR8	51311	genome.wustl.edu	37	X	12939888	12939888	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:12939888A>C	ENST00000218032.6	+	2	2816	c.2729A>C	c.(2728-2730)gAc>gCc	p.D910A	TLR8_ENST00000311912.5_Missense_Mutation_p.D928A	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	910	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GAGAGCCGAGACAAAAACGTT	0.453																																																	0													101.0	101.0	101.0					X																	12939888		2203	4300	6503	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2729A>C	X.37:g.12939888A>C	ENSP00000218032:p.Asp910Ala		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D910A	ENST00000218032.6	37	c.2729	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077091	0.36662	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.34072	1.38;1.55	5.97	0.802	0.18686	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.995522	0.08129	N	0.993402	T	0.43100	0.1232	L	0.52011	1.625	0.34928	D	0.749043	P;P	0.52692	0.955;0.955	P;P	0.54544	0.755;0.755	T	0.47573	-0.9107	10	0.38643	T	0.18	.	6.5272	0.22307	0.602:0.1236:0.2744:0.0	.	910;928	Q9NR97;D1CS70	TLR8_HUMAN;.	A	910;928	ENSP00000218032:D910A;ENSP00000312082:D928A	ENSP00000218032:D910A	D	+	2	0	TLR8	12849809	0.894000	0.30519	0.021000	0.16686	0.476000	0.33039	2.023000	0.41040	-0.189000	0.10482	0.486000	0.48141	GAC	TLR8	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.453	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	A	NM_016610		12939888	+1	no_errors	ENST00000218032	ensembl	human	known	70_37	missense	SNP	0.577	C
TM7SF3	51768	genome.wustl.edu	37	12	27127096	27127096	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:27127096T>G	ENST00000343028.4	-	12	1740	c.1515A>C	c.(1513-1515)agA>agC	p.R505S	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	505						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GTCCTCTCTCTCTTCGAATCT	0.458																																																	0													104.0	94.0	97.0					12																	27127096		2203	4300	6503	SO:0001583	missense	51768			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1515A>C	12.37:g.27127096T>G	ENSP00000342322:p.Arg505Ser		B3KMZ3|Q9NUS4	Missense_Mutation	SNP	NULL	p.R505S	ENST00000343028.4	37	c.1515	CCDS8710.1	12	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090954	0.55968	.	.	ENSG00000064115	ENST00000343028;ENST00000545344	T	0.32988	1.43	5.58	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	L	0.34521	1.04	0.58432	D	0.999991	P	0.46621	0.881	B	0.43251	0.413	T	0.02437	-1.1159	10	0.59425	D	0.04	-20.5015	8.6857	0.34236	0.0:0.211:0.0:0.789	.	505	Q9NS93	TM7S3_HUMAN	S	505;219	ENSP00000342322:R505S	ENSP00000342322:R505S	R	-	3	2	TM7SF3	27018363	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	1.222000	0.32515	1.056000	0.40484	0.533000	0.62120	AGA	TM7SF3	-	NULL		0.458	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1	T	NM_016551		27127096	-1	no_errors	ENST00000343028	ensembl	human	known	70_37	missense	SNP	1.000	G
TMC4	147798	genome.wustl.edu	37	19	54667392	54667392	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:54667392C>T	ENST00000376591.4	-	8	1427				TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000416963.1_Missense_Mutation_p.A12T|TMC4_ENST00000301187.4_Intron	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TACCTGTCAGCGCCAACATCC	0.557											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0																																										SO:0001627	intron_variant	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1295+63G>A	19.37:g.54667392C>T		1002	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.A12T	ENST00000376591.4	37	c.34	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	C	0.925	-0.714706	0.03206	.	.	ENSG00000167608	ENST00000416963	T	0.72394	-0.65	2.41	-4.29	0.03721	.	.	.	.	.	T	0.49966	0.1588	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.36383	-0.9750	8	0.87932	D	0	.	0.4289	0.00468	0.2037:0.1768:0.2083:0.4112	.	12	Q7Z404-3	.	T	12	ENSP00000405023:A12T	ENSP00000405023:A12T	A	-	1	0	TMC4	59359204	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.900000	0.04097	-1.389000	0.02090	-5.027000	0.00002	GCT	TMC4	-	NULL		0.557	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	C			54667392	-1	no_errors	ENST00000416963	ensembl	human	known	70_37	missense	SNP	0.000	T
TMC7	79905	genome.wustl.edu	37	16	19049365	19049365	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:19049365A>C	ENST00000304381.5	+	8	1305	c.1175A>C	c.(1174-1176)aAa>aCa	p.K392T	TMC7_ENST00000421369.3_Missense_Mutation_p.K282T|TMC7_ENST00000569532.1_Missense_Mutation_p.K392T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	392					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAGCACATGAAAAAGGTAAAT	0.383																																																	0													152.0	132.0	139.0					16																	19049365		2197	4300	6497	SO:0001583	missense	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1175A>C	16.37:g.19049365A>C	ENSP00000304710:p.Lys392Thr		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.K392T	ENST00000304381.5	37	c.1175	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	A	10.10	1.258117	0.23051	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.52526	0.66;0.66	5.5	5.5	0.81552	.	.	.	.	.	T	0.33498	0.0865	L	0.27053	0.805	0.32417	N	0.549834	B;B	0.20887	0.049;0.013	B;B	0.20184	0.028;0.017	T	0.38757	-0.9646	9	0.23302	T	0.38	.	9.7942	0.40724	0.8272:0.1728:0.0:0.0	.	392;392	Q7Z402;B3KSZ3	TMC7_HUMAN;.	T	392;282	ENSP00000304710:K392T;ENSP00000397081:K282T	ENSP00000304710:K392T	K	+	2	0	TMC7	18956866	0.991000	0.36638	0.999000	0.59377	0.591000	0.36615	3.125000	0.50469	2.094000	0.63399	0.528000	0.53228	AAA	TMC7	-	NULL		0.383	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	A	NM_024847		19049365	+1	no_errors	ENST00000304381	ensembl	human	known	70_37	missense	SNP	0.988	C
TMCC3	57458	genome.wustl.edu	37	12	94965289	94965289	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:94965289G>A	ENST00000261226.4	-	4	1487	c.1356C>T	c.(1354-1356)gcC>gcT	p.A452A	TMCC3_ENST00000551457.1_Silent_p.A421A	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	452						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GAAGAGTCACGGCAAAGAAGG	0.463																																																	0													162.0	150.0	154.0					12																	94965289		2203	4300	6503	SO:0001819	synonymous_variant	57458			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1356C>T	12.37:g.94965289G>A			Q8IWB2	Silent	SNP	pfam_Predicted_TM_coiled-coil_2	p.A452	ENST00000261226.4	37	c.1356	CCDS31877.1	12																																																																																			TMCC3	-	pfam_Predicted_TM_coiled-coil_2		0.463	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC3	HGNC	protein_coding	OTTHUMT00000408113.1	G	NM_020698		94965289	-1	no_errors	ENST00000261226	ensembl	human	known	70_37	silent	SNP	0.665	A
TANGO6	79613	genome.wustl.edu	37	16	68953050	68953050	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:68953050G>T	ENST00000261778.1	+	12	2067	c.2055G>T	c.(2053-2055)gaG>gaT	p.E685D		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	685						integral component of membrane (GO:0016021)											ATCAGGCAGAGAGCACCGTGG	0.522																																																	0													82.0	79.0	80.0					16																	68953050		2133	4236	6369	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2055G>T	16.37:g.68953050G>T	ENSP00000261778:p.Glu685Asp		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.E685D	ENST00000261778.1	37	c.2055	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	G	4.511	0.094727	0.08681	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.36	3.41	0.39046	Armadillo-type fold (1);	0.212097	0.46758	D	0.000272	T	0.27559	0.0677	L	0.54323	1.7	0.25408	N	0.988389	B	0.30741	0.293	B	0.22386	0.039	T	0.15065	-1.0450	9	0.13108	T	0.6	-22.671	3.0962	0.06311	0.1565:0.1708:0.5475:0.1253	.	685	Q9C0B7	TMCO7_HUMAN	D	685	.	ENSP00000261778:E685D	E	+	3	2	TMCO7	67510551	1.000000	0.71417	0.971000	0.41717	0.300000	0.27592	1.795000	0.38784	0.647000	0.30713	-0.880000	0.02959	GAG	TMCO7	-	superfamily_ARM-type_fold		0.522	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	G	XM_928235.2		68953050	+1	no_errors	ENST00000261778	ensembl	human	known	70_37	missense	SNP	0.908	T
TMEM126A	84233	genome.wustl.edu	37	11	85361308	85361308	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:85361308T>G	ENST00000304511.2	+	2	118	c.9T>G	c.(7-9)aaT>aaG	p.N3K	TMEM126A_ENST00000532180.1_Intron|TMEM126A_ENST00000528105.1_Intron	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	3					optic nerve development (GO:0021554)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAATGGAAAATCATAAATCCA	0.264																																																	0													31.0	32.0	31.0					11																	85361308		2200	4289	6489	SO:0001583	missense	84233				CCDS8268.1, CCDS58165.1	11q14.1	2011-03-25			ENSG00000171202	ENSG00000171202			25382	protein-coding gene	gene with protein product		612988				11230166	Standard	NM_032273		Approved	DKFZp586C1924, OPA7	uc001par.3	Q9H061	OTTHUMG00000166975	ENST00000304511.2:c.9T>G	11.37:g.85361308T>G	ENSP00000306887:p.Asn3Lys		B2R570|E9PI16	Missense_Mutation	SNP	pfam_DUF1370_TMEM126	p.N3K	ENST00000304511.2	37	c.9	CCDS8268.1	11	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186107	0.38609	.	.	ENSG00000171202	ENST00000304511	T	0.31510	1.49	4.57	4.57	0.56435	.	0.809764	0.11475	N	0.560291	T	0.19248	0.0462	L	0.27053	0.805	0.80722	D	1	P	0.37781	0.608	B	0.30029	0.11	T	0.03969	-1.0988	9	.	.	.	-5.6619	10.628	0.45519	0.0:0.0:0.0:1.0	.	3	Q9H061	T126A_HUMAN	K	3	ENSP00000306887:N3K	.	N	+	3	2	TMEM126A	85038956	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	0.593000	0.23999	2.281000	0.76405	0.528000	0.53228	AAT	TMEM126A	-	NULL		0.264	TMEM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM126A	HGNC	protein_coding	OTTHUMT00000392177.1	T	NM_032273		85361308	+1	no_errors	ENST00000304511	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM132D	121256	genome.wustl.edu	37	12	129558758	129558758	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:129558758T>G	ENST00000422113.2	-	9	3288	c.2962A>C	c.(2962-2964)Atc>Ctc	p.I988L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.I526L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	988					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGGCAGTGATTTGCTCATCT	0.483																																																	0													115.0	103.0	107.0					12																	129558758		2203	4300	6503	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2962A>C	12.37:g.129558758T>G	ENSP00000408581:p.Ile988Leu		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.I988L	ENST00000422113.2	37	c.2962	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	T	11.76	1.735834	0.30774	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.08984	3.03;3.85	4.14	0.389	0.16269	.	0.276251	0.29638	N	0.011583	T	0.05318	0.0141	L	0.31420	0.93	0.09310	N	1	B;B	0.28850	0.225;0.035	B;B	0.26517	0.07;0.027	T	0.40478	-0.9561	9	.	.	.	-16.7144	7.9323	0.29909	0.0:0.25:0.0:0.75	.	988;526	Q14C87;Q14C87-2	T132D_HUMAN;.	L	526;988	ENSP00000374092:I526L;ENSP00000408581:I988L	.	I	-	1	0	TMEM132D	128124711	0.958000	0.32768	0.031000	0.17742	0.777000	0.43975	1.644000	0.37228	-0.122000	0.11766	0.338000	0.21704	ATC	TMEM132D	-	NULL		0.483	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	T	NM_133448		129558758	-1	no_errors	ENST00000422113	ensembl	human	known	70_37	missense	SNP	0.227	G
TMEM147	10430	genome.wustl.edu	37	19	36037436	36037436	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:36037436C>A	ENST00000222284.5	+	3	301	c.156C>A	c.(154-156)ttC>ttA	p.F52L	TMEM147_ENST00000392204.2_Missense_Mutation_p.F3L|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.F52L	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	52						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGATGCTGTTCTTGGCCACTT	0.532																																																	0													158.0	136.0	143.0					19																	36037436		2203	4300	6503	SO:0001583	missense	10430			BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.156C>A	19.37:g.36037436C>A	ENSP00000222284:p.Phe52Leu		A8MWW0|O75790	Missense_Mutation	SNP	pfam_DUF2053_membrane	p.F52L	ENST00000222284.5	37	c.156	CCDS12466.1	19	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381716	0.24944	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.37584	1.19;1.19;1.19	5.17	4.09	0.47781	.	0.050825	0.85682	D	0.000000	T	0.14917	0.0360	N	0.04959	-0.14	0.58432	D	0.999996	B	0.30634	0.288	B	0.25884	0.064	T	0.11494	-1.0585	10	0.11182	T	0.66	.	10.4744	0.44657	0.0:0.8986:0.0:0.1014	.	52	Q9BVK8	TM147_HUMAN	L	3;52;52	ENSP00000376040:F3L;ENSP00000222284:F52L;ENSP00000376041:F52L	ENSP00000222284:F52L	F	+	3	2	TMEM147	40729276	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.415000	0.34748	2.676000	0.91093	0.655000	0.94253	TTC	TMEM147	-	pfam_DUF2053_membrane		0.532	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM147	HGNC	protein_coding	OTTHUMT00000109469.2	C	NM_032635		36037436	+1	no_errors	ENST00000222284	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM145	284339	genome.wustl.edu	37	19	42818970	42818970	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:42818970C>T	ENST00000301204.3	+	5	428	c.387C>T	c.(385-387)taC>taT	p.Y129Y	TMEM145_ENST00000598766.1_Silent_p.Y139Y|TMEM145_ENST00000601020.1_3'UTR	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	129					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GAACCCGCTACCTGAGCTGCT	0.617																																																	0													67.0	67.0	67.0					19																	42818970		2203	4300	6503	SO:0001819	synonymous_variant	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.387C>T	19.37:g.42818970C>T				Silent	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.Y129	ENST00000301204.3	37	c.387	CCDS12603.1	19																																																																																			TMEM145	-	NULL		0.617	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	C	NM_173633		42818970	+1	no_errors	ENST00000301204	ensembl	human	known	70_37	silent	SNP	1.000	T
TMEM151B	441151	genome.wustl.edu	37	6	44243269	44243269	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:44243269A>T	ENST00000451188.2	+	3	983	c.706A>T	c.(706-708)Aag>Tag	p.K236*	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_001137560.1	NP_001131032.1	Q8IW70	T151B_HUMAN	transmembrane protein 151B	236						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)	6						GCGCTTCACCAAGTGCTTCAG	0.682																																																	0													35.0	43.0	40.0					6																	44243269		692	1591	2283	SO:0001587	stop_gained	441151			AK126839	CCDS47437.1	6p21.1	2009-04-17	2007-10-25	2007-10-25	ENSG00000178233	ENSG00000178233			21315	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 137"", ""transmembrane protein 193"""	C6orf137, TMEM193			Standard	NM_001137560		Approved	bA444E17.5	uc003oxh.2	Q8IW70	OTTHUMG00000014765	ENST00000451188.2:c.706A>T	6.37:g.44243269A>T	ENSP00000393161:p.Lys236*		Q5T9V7	Nonsense_Mutation	SNP	NULL	p.K236*	ENST00000451188.2	37	c.706	CCDS47437.1	6	.	.	.	.	.	.	.	.	.	.	A	39	7.752502	0.98471	.	.	ENSG00000178233	ENST00000451188	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6786	0.69001	1.0:0.0:0.0:0.0	.	.	.	.	X	236	.	ENSP00000393161:K236X	K	+	1	0	TMEM151B	44351247	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.015000	0.76387	2.103000	0.63969	0.379000	0.24179	AAG	TMEM151B	-	NULL		0.682	TMEM151B-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TMEM151B	HGNC	protein_coding	OTTHUMT00000040740.2	A	NM_001039704		44243269	+1	no_errors	ENST00000451188	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TMEM175	84286	genome.wustl.edu	37	4	946159	946159	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:946159C>T	ENST00000264771.4	+	7	568	c.383C>T	c.(382-384)tCg>tTg	p.S128L	TMEM175_ENST00000508204.1_Missense_Mutation_p.S46L|TMEM175_ENST00000515740.1_Missense_Mutation_p.S12L|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	128						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.S128L(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TAACAGTTTTCGTTAATGGTG	0.562																																																	1	Substitution - Missense(1)	pancreas(1)											161.0	143.0	149.0					4																	946159		2203	4300	6503	SO:0001583	missense	84286			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.383C>T	4.37:g.946159C>T	ENSP00000264771:p.Ser128Leu		D3DVN4|Q8ND13	Missense_Mutation	SNP	pfam_DUF1211_TMEM175	p.S128L	ENST00000264771.4	37	c.383	CCDS3341.1	4	.	.	.	.	.	.	.	.	.	.	c	14.07	2.424342	0.43020	.	.	ENSG00000127419	ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493;ENST00000514546	T;T;T;T;T;T	0.52983	1.26;0.7;1.07;1.29;0.64;0.78	4.86	4.86	0.63082	.	0.067712	0.64402	D	0.000009	T	0.48943	0.1528	M	0.65498	2.005	0.53688	D	0.999979	P;P;D	0.54047	0.72;0.72;0.964	B;B;B	0.43225	0.059;0.095;0.412	T	0.58120	-0.7692	10	0.72032	D	0.01	-9.281	13.4697	0.61276	0.0:1.0:0.0:0.0	.	46;128;46	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	L	128;115;46;46;34;12;46;46;128	ENSP00000264771:S128L;ENSP00000425181:S115L;ENSP00000421750:S34L;ENSP00000427039:S12L;ENSP00000423669:S46L;ENSP00000425763:S128L	ENSP00000264771:S128L	S	+	2	0	TMEM175	936159	1.000000	0.71417	0.936000	0.37596	0.332000	0.28634	6.289000	0.72696	2.232000	0.73038	0.478000	0.44815	TCG	TMEM175	-	NULL		0.562	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM175	HGNC	protein_coding	OTTHUMT00000239193.2	C	NM_032326		946159	+1	no_errors	ENST00000264771	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM184C	55751	genome.wustl.edu	37	4	148554065	148554065	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:148554065T>G	ENST00000296582.3	+	8	1365	c.791T>G	c.(790-792)gTt>gGt	p.V264G	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	264						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CAAGCAGTAGTTATTGCTTTG	0.388																																																	0													149.0	133.0	139.0					4																	148554065		2203	4300	6503	SO:0001583	missense	55751			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.791T>G	4.37:g.148554065T>G	ENSP00000296582:p.Val264Gly		D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	pfam_Ost-alpha	p.V264G	ENST00000296582.3	37	c.791	CCDS3770.1	4	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670924	0.47781	.	.	ENSG00000164168	ENST00000296582	T	0.48201	0.82	5.6	3.11	0.35812	.	0.436629	0.27122	N	0.020828	T	0.27629	0.0679	N	0.16037	0.36	0.80722	D	1	B	0.18610	0.029	B	0.18871	0.023	T	0.04255	-1.0965	10	0.36615	T	0.2	-5.5818	7.6083	0.28115	0.1261:0.0685:0.0:0.8054	.	264	Q9NVA4	T184C_HUMAN	G	264	ENSP00000296582:V264G	ENSP00000296582:V264G	V	+	2	0	TMEM184C	148773515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.040000	0.70980	0.461000	0.27071	0.528000	0.53228	GTT	TMEM184C	-	pfam_Ost-alpha		0.388	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184C	HGNC	protein_coding	OTTHUMT00000364644.1	T	NM_018241		148554065	+1	no_errors	ENST00000296582	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM232	642987	genome.wustl.edu	37	5	109760531	109760531	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:109760531T>G	ENST00000455884.2	-	13	1840	c.1790A>C	c.(1789-1791)gAc>gCc	p.D597A	TMEM232_ENST00000515518.2_5'UTR|TMEM232_ENST00000429839.2_3'UTR			C9JQI7	TM232_HUMAN	transmembrane protein 232	597						integral component of membrane (GO:0016021)				breast(1)|kidney(2)	3						TACGTGATGGTCAATGATTTT	0.343																																																	0													137.0	115.0	122.0					5																	109760531		692	1591	2283	SO:0001583	missense	642987			AK125070	CCDS47253.1, CCDS47253.2	5q22.1	2014-02-12	2009-10-02		ENSG00000186952	ENSG00000186952			37270	protein-coding gene	gene with protein product							Standard	NM_001039763		Approved	FLJ43080	uc011cvh.2	C9JQI7	OTTHUMG00000163297	ENST00000455884.2:c.1790A>C	5.37:g.109760531T>G	ENSP00000401477:p.Asp597Ala		B4DKF4	Missense_Mutation	SNP	NULL	p.D597A	ENST00000455884.2	37	c.1790	CCDS47253.2	5	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019000	0.54576	.	.	ENSG00000186952	ENST00000455884	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	T	0.68805	0.3041	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.67983	-0.5529	7	.	.	.	.	12.7599	0.57359	0.0:0.0:0.0:1.0	.	597	C9JQI7	TM232_HUMAN	A	597	.	.	D	-	2	0	TMEM232	109788430	1.000000	0.71417	0.995000	0.50966	0.651000	0.38670	3.980000	0.56895	2.330000	0.79161	0.477000	0.44152	GAC	TMEM232	-	NULL		0.343	TMEM232-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TMEM232	HGNC	protein_coding	OTTHUMT00000372488.2	T	NM_001039763		109760531	-1	no_errors	ENST00000455884	ensembl	human	novel	70_37	missense	SNP	0.997	G
TMEM237	65062	genome.wustl.edu	37	2	202492840	202492840	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:202492840C>T	ENST00000409883.2	-	10	1018	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	TMEM237_ENST00000409444.2_Missense_Mutation_p.R293Q|TMEM237_ENST00000466839.1_5'UTR	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	301					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CAAAAAATTTCGGATTGCTAC	0.323																																																	0													52.0	50.0	50.0					2																	202492840		1814	4072	5886	SO:0001583	missense	65062			AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.902G>A	2.37:g.202492840C>T	ENSP00000386264:p.Arg301Gln		B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	NULL	p.R301Q	ENST00000409883.2	37	c.902	CCDS46489.1	2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773231	0.90108	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684;ENST00000409099	.	.	.	5.38	4.5	0.54988	.	0.161524	0.49916	N	0.000136	T	0.76564	0.4005	M	0.68952	2.095	0.49915	D	0.99983	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.79024	-0.1972	9	0.72032	D	0.01	-5.6558	13.7138	0.62685	0.0:0.9261:0.0:0.0739	.	301;325	E9PAR8;Q96Q45	.;TM237_HUMAN	Q	293;301;301;323;206	.	ENSP00000386949:R206Q	R	-	2	0	TMEM237	202201085	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.610000	0.54125	1.263000	0.44181	0.563000	0.77884	CGA	TMEM237	-	NULL		0.323	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM237	HGNC	protein_coding	OTTHUMT00000335753.1	C	NM_152388		202492840	-1	no_errors	ENST00000409883	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM252	169693	genome.wustl.edu	37	9	71155719	71155719	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:71155719T>G	ENST00000377311.3	-	1	64	c.12A>C	c.(10-12)agA>agC	p.R4S	RP11-274B18.4_ENST00000413269.3_lincRNA|RP11-274B18.2_ENST00000432148.1_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	4						integral component of membrane (GO:0016021)											TGAGGCCAGTTCTGTTCTGCA	0.557																																																	0													68.0	66.0	67.0					9																	71155719		2203	4300	6503	SO:0001583	missense	169693			BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.12A>C	9.37:g.71155719T>G	ENSP00000366528:p.Arg4Ser			Missense_Mutation	SNP	NULL	p.R4S	ENST00000377311.3	37	c.12	CCDS35040.1	9	.	.	.	.	.	.	.	.	.	.	T	11.86	1.766033	0.31228	.	.	ENSG00000181778	ENST00000377311	.	.	.	6.02	0.329	0.15924	.	0.782010	0.12608	N	0.454153	T	0.35624	0.0938	M	0.67953	2.075	0.09310	N	1	P	0.34462	0.454	B	0.30316	0.114	T	0.29027	-1.0025	9	0.87932	D	0	-6.6983	6.207	0.20608	0.0:0.3618:0.2166:0.4215	.	4	Q8N6L7	CI071_HUMAN	S	4	.	ENSP00000366528:R4S	R	-	3	2	C9orf71	70345539	0.000000	0.05858	0.014000	0.15608	0.062000	0.15995	-0.428000	0.06991	0.127000	0.18452	0.533000	0.62120	AGA	TMEM252	-	NULL		0.557	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM252	HGNC	protein_coding	OTTHUMT00000052551.1	T	NM_153237		71155719	-1	no_errors	ENST00000377311	ensembl	human	known	70_37	missense	SNP	0.000	G
TMEM39B	55116	genome.wustl.edu	37	1	32568452	32568452	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:32568452T>G	ENST00000336294.5	+	0	1803				TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAGTCCTATTTTTATACTCCC	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	55116			AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.*178T>G	1.37:g.32568452T>G			B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	RNA	SNP	-	NULL	ENST00000336294.5	37	NULL	CCDS351.2	1																																																																																			TMEM39B	-	-		0.408	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39B	HGNC	protein_coding	OTTHUMT00000011489.2	T	NM_018056		32568452	+1	no_errors	ENST00000468135	ensembl	human	known	70_37	rna	SNP	1.000	G
TMEM50A	23585	genome.wustl.edu	37	1	25669500	25669500	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:25669500A>C	ENST00000374358.4	+	3	695	c.142A>C	c.(142-144)Acc>Ccc	p.T48P	RNU6-1171P_ENST00000516706.1_RNA|TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	48						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TATTTATCCCACCATGAAAGA	0.378																																																	0													168.0	148.0	155.0					1																	25669500		2203	4300	6503	SO:0001583	missense	23585			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.142A>C	1.37:g.25669500A>C	ENSP00000363478:p.Thr48Pro			Missense_Mutation	SNP	pfam_UPF0220	p.T48P	ENST00000374358.4	37	c.142	CCDS264.1	1	.	.	.	.	.	.	.	.	.	.	A	9.322	1.058274	0.19987	.	.	ENSG00000183726	ENST00000374358	T	0.31769	1.48	5.63	-5.13	0.02884	.	1.484170	0.03430	N	0.207655	T	0.13157	0.0319	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13282	-1.0515	10	0.26408	T	0.33	.	2.5229	0.04684	0.3734:0.1852:0.0635:0.3779	.	48;48	B7Z5M7;O95807	.;TM50A_HUMAN	P	48	ENSP00000363478:T48P	ENSP00000363478:T48P	T	+	1	0	TMEM50A	25542087	0.000000	0.05858	0.009000	0.14445	0.751000	0.42716	-1.052000	0.03503	-0.543000	0.06240	-0.418000	0.06021	ACC	TMEM50A	-	pfam_UPF0220		0.378	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM50A	HGNC	protein_coding	OTTHUMT00000020313.1	A			25669500	+1	no_errors	ENST00000374358	ensembl	human	known	70_37	missense	SNP	0.000	C
NDC1	55706	genome.wustl.edu	37	1	54273423	54273423	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:54273423T>G	ENST00000371429.3	-	8	1395	c.797A>C	c.(796-798)aAt>aCt	p.N266T	NDC1_ENST00000234725.8_Missense_Mutation_p.N151T|NDC1_ENST00000540001.1_Missense_Mutation_p.N266T|NDC1_ENST00000537333.1_Intron	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	266					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										TAACGAGAGATTTAAGAGGCC	0.413																																																	0													144.0	148.0	147.0					1																	54273423		2203	4300	6503	SO:0001583	missense	55706			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.797A>C	1.37:g.54273423T>G	ENSP00000360483:p.Asn266Thr		B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	pfam_Nucleoporin_prot_Ndc1/Nup	p.N266T	ENST00000371429.3	37	c.797	CCDS583.1	1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562404	0.45694	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000234725	T;T;T	0.48201	0.82;0.82;0.82	5.18	4.06	0.47325	.	0.240740	0.48767	D	0.000172	T	0.49847	0.1581	L	0.47716	1.5	0.41849	D	0.990165	D;D	0.57571	0.957;0.98	P;P	0.57244	0.759;0.816	T	0.44467	-0.9326	10	0.10902	T	0.67	.	10.0606	0.42273	0.0:0.0804:0.0:0.9196	.	226;266	B4DHA3;Q9BTX1	.;NDC1_HUMAN	T	266;266;266;151	ENSP00000360483:N266T;ENSP00000440873:N266T;ENSP00000234725:N151T	ENSP00000234725:N151T	N	-	2	0	TMEM48	54046011	1.000000	0.71417	0.832000	0.32986	0.132000	0.20833	3.306000	0.51881	1.011000	0.39340	0.529000	0.55759	AAT	TMEM48	-	pfam_Nucleoporin_prot_Ndc1/Nup		0.413	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM48	HGNC	protein_coding	OTTHUMT00000022101.1	T	NM_018087		54273423	-1	no_errors	ENST00000371429	ensembl	human	known	70_37	missense	SNP	0.956	G
TMEM55A	55529	genome.wustl.edu	37	8	92008002	92008002	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:92008002G>T	ENST00000285419.3	-	7	991	c.677C>A	c.(676-678)tCt>tAt	p.S226Y		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	226						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			AATTGCCCAAGAAACATAGGT	0.368																																																	0													100.0	96.0	97.0					8																	92008002		2203	4300	6503	SO:0001583	missense	55529			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.677C>A	8.37:g.92008002G>T	ENSP00000285419:p.Ser226Tyr		B2R9H4|Q68CU2	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.S226Y	ENST00000285419.3	37	c.677	CCDS6252.1	8	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551696	0.65311	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.36	4.48	0.54585	.	0.102536	0.64402	D	0.000001	T	0.54967	0.1891	L	0.29908	0.895	0.80722	D	1	P	0.36789	0.57	P	0.45577	0.486	T	0.58978	-0.7540	9	0.56958	D	0.05	-16.44	14.2167	0.65797	0.0723:0.0:0.9277:0.0	.	226	Q8N4L2	TM55A_HUMAN	Y	226;232	.	ENSP00000285419:S226Y	S	-	2	0	TMEM55A	92077178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	1.394000	0.46624	0.650000	0.86243	TCT	TMEM55A	-	pfam_Transmembrane_protein_55A/B		0.368	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM55A	HGNC	protein_coding	OTTHUMT00000376778.1	G	NM_018710		92008002	-1	no_errors	ENST00000285419	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM59	9528	genome.wustl.edu	37	1	54497852	54497852	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:54497852T>G	ENST00000234831.5	-	8	1192	c.943A>C	c.(943-945)Aaa>Caa	p.K315Q	TMEM59_ENST00000371341.1_Missense_Mutation_p.K184Q|TMEM59_ENST00000470395.1_5'UTR|TMEM59_ENST00000371348.1_Missense_Mutation_p.K184Q|TMEM59_ENST00000371344.1_Missense_Mutation_p.K184Q	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	315					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGATTCACTTTTGTAGGTAGA	0.333																																																	0													78.0	80.0	79.0					1																	54497852		2202	4300	6502	SO:0001583	missense	9528			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 8"""	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.943A>C	1.37:g.54497852T>G	ENSP00000234831:p.Lys315Gln		B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m	p.K315Q	ENST00000234831.5	37	c.943	CCDS586.1	1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613978	0.87359	.	.	ENSG00000116209	ENST00000371348;ENST00000371344;ENST00000234831;ENST00000371341	T	0.66099	-0.19	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.68593	2.085	0.80722	D	1	P;D	0.71674	0.7;0.998	B;D	0.78314	0.31;0.991	T	0.80046	-0.1546	10	0.87932	D	0	.	15.4182	0.74987	0.0:0.0:0.0:1.0	.	316;315	D3DQ48;Q9BXS4	.;TMM59_HUMAN	Q	184;184;315;184	ENSP00000234831:K315Q	ENSP00000234831:K315Q	K	-	1	0	TMEM59	54270440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.235000	0.78143	2.227000	0.72691	0.528000	0.53228	AAA	TMEM59	-	NULL		0.333	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM59	HGNC	protein_coding	OTTHUMT00000023254.2	T	NM_004872		54497852	-1	no_errors	ENST00000234831	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM63C	57156	genome.wustl.edu	37	14	77715708	77715708	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:77715708A>G	ENST00000298351.4	+	21	2089	c.1945A>G	c.(1945-1947)Aac>Gac	p.N649D		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	649					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CACCAAACTGAACGAGCAGAT	0.527																																																	0													163.0	167.0	166.0					14																	77715708		2120	4229	6349	SO:0001583	missense	57156				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1945A>G	14.37:g.77715708A>G	ENSP00000298351:p.Asn649Asp		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	pfam_DUF221	p.N649D	ENST00000298351.4	37	c.1945	CCDS45141.1	14	.	.	.	.	.	.	.	.	.	.	A	4.627	0.116599	0.08881	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.25579	1.79	5.26	5.26	0.73747	Domain of unknown function DUF221 (1);	0.209128	0.56097	D	0.000021	T	0.17066	0.0410	N	0.20530	0.585	0.45502	D	0.998462	B	0.02656	0.0	B	0.09377	0.004	T	0.07252	-1.0782	10	0.14252	T	0.57	-28.535	15.1737	0.72894	1.0:0.0:0.0:0.0	.	649	Q9P1W3	TM63C_HUMAN	D	649;219	ENSP00000298351:N649D	ENSP00000298351:N649D	N	+	1	0	TMEM63C	76785461	1.000000	0.71417	0.998000	0.56505	0.573000	0.36030	8.832000	0.92079	1.983000	0.57843	0.459000	0.35465	AAC	TMEM63C	-	pfam_DUF221		0.527	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1	A			77715708	+1	no_errors	ENST00000298351	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM98	26022	genome.wustl.edu	37	17	31260256	31260256	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:31260256G>A	ENST00000579849.1	+	4	627	c.196G>A	c.(196-198)Gat>Aat	p.D66N	TMEM98_ENST00000394642.3_Missense_Mutation_p.D66N|TMEM98_ENST00000578289.1_Missense_Mutation_p.D66N	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	66						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AGAACTGGACGATGTCGTTAT	0.522																																																	0													155.0	137.0	143.0					17																	31260256		2203	4300	6503	SO:0001583	missense	26022			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.196G>A	17.37:g.31260256G>A	ENSP00000463245:p.Asp66Asn		E1P631|Q9UFK2	Missense_Mutation	SNP	NULL	p.D66N	ENST00000579849.1	37	c.196	CCDS11274.1	17	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417321	0.62622	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	T;T;T;T	0.49720	0.79;0.8;0.77;0.79	5.18	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	N	0.14661	0.345	0.58432	D	0.999999	P	0.41420	0.749	B	0.28784	0.094	T	0.12915	-1.0529	10	0.49607	T	0.09	-4.3887	10.7507	0.46207	0.0921:0.0:0.9079:0.0	.	66	Q9Y2Y6	TMM98_HUMAN	N	66	ENSP00000378138:D66N;ENSP00000261713:D66N;ENSP00000398446:D66N;ENSP00000406394:D66N	ENSP00000261713:D66N	D	+	1	0	TMEM98	28284369	1.000000	0.71417	0.934000	0.37439	0.853000	0.48598	7.331000	0.79192	1.953000	0.56701	0.460000	0.39030	GAT	TMEM98	-	NULL		0.522	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM98	HGNC	protein_coding	OTTHUMT00000256372.2	G	NM_015544		31260256	+1	no_errors	ENST00000394642	ensembl	human	known	70_37	missense	SNP	1.000	A
TMF1	7110	genome.wustl.edu	37	3	69093647	69093647	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:69093647T>G	ENST00000398559.2	-	3	1663	c.1447A>C	c.(1447-1449)Aaa>Caa	p.K483Q	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.K486Q|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	483					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		ACTTACTCTTTCAGGTTATCA	0.303																																																	0													63.0	63.0	63.0					3																	69093647		1795	4056	5851	SO:0001583	missense	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1447A>C	3.37:g.69093647T>G	ENSP00000381567:p.Lys483Gln		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.K486Q	ENST00000398559.2	37	c.1456	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114345	0.77210	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	D;D	0.82619	-1.63;-1.63	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.88937	0.6573	M	0.71581	2.175	0.58432	D	0.999997	D;D	0.76494	0.999;0.998	P;P	0.61397	0.888;0.776	D	0.87707	0.2564	10	0.32370	T	0.25	.	15.991	0.80206	0.0:0.0:0.0:1.0	.	486;483	P82094-2;P82094	.;TMF1_HUMAN	Q	483;486;399;483	ENSP00000381567:K483Q;ENSP00000438706:K486Q	ENSP00000348582:K399Q	K	-	1	0	TMF1	69176337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.667000	0.68067	2.187000	0.69744	0.482000	0.46254	AAA	TMF1	-	NULL		0.303	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	T	NM_007114		69093647	-1	no_errors	ENST00000543976	ensembl	human	known	70_37	missense	SNP	1.000	G
TMPO	7112	genome.wustl.edu	37	12	98938791	98938791	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:98938791C>A	ENST00000556029.1	+	7	1298	c.942C>A	c.(940-942)ttC>ttA	p.F314L	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Missense_Mutation_p.F274L	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	314	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCACTGAATTCTCAGACATAC	0.373																																																	0													102.0	96.0	98.0					12																	98938791		2203	4300	6503	SO:0001583	missense	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.942C>A	12.37:g.98938791C>A	ENSP00000450627:p.Phe314Leu		A2T926|Q14861	Missense_Mutation	SNP	pfam_Thymopoietin_LEM,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM,pfscan_Thymopoietin_LEM	p.F314L	ENST00000556029.1	37	c.942	CCDS31879.1	12	.	.	.	.	.	.	.	.	.	.	C	8.832	0.940060	0.18281	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000556678	T;T;T	0.72615	0.3;0.3;-0.67	5.53	4.64	0.57946	.	.	.	.	.	T	0.61515	0.2353	L	0.43152	1.355	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55866	-0.8073	9	0.17369	T	0.5	.	14.2731	0.66164	0.0:0.9284:0.0:0.0716	.	314	P42167	LAP2B_HUMAN	L	314;274;149	ENSP00000450627:F314L;ENSP00000340251:F274L;ENSP00000451552:F149L	ENSP00000340251:F314L	F	+	3	2	TMPO	97462922	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.059000	0.64306	1.341000	0.45600	0.591000	0.81541	TTC	TMPO	-	NULL		0.373	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	C	NM_003276		98938791	+1	no_errors	ENST00000556029	ensembl	human	known	70_37	missense	SNP	1.000	A
TMPRSS11A	339967	genome.wustl.edu	37	4	68777060	68777060	+	Nonstop_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:68777060T>G	ENST00000334830.7	-	10	2012	c.1266A>C	c.(1264-1266)taA>taC	p.*422Y	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Nonstop_Mutation_p.*418Y|TMPRSS11A_ENST00000396188.2_Nonstop_Mutation_p.*419Y			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	0					cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TTATCGTGAATTAGATGCCTG	0.363																																					NSCLC(26;2 894 10941 14480 22546)												0													169.0	159.0	162.0					4																	68777060		2203	4300	6503	SO:0001578	stop_lost	339967			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.1266A>C	4.37:g.68777060T>G			J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Nonstop_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.*422Y	ENST00000334830.7	37	c.1266	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	T	10.51	1.371084	0.24771	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	.	.	.	5.34	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.183	0.20482	0.0:0.179:0.0:0.821	.	.	.	.	Y	418;422;419;386	.	.	X	-	3	2	TMPRSS11A	68459655	0.600000	0.26899	0.858000	0.33744	0.213000	0.24496	1.139000	0.31504	2.155000	0.67459	0.377000	0.23210	TAA	TMPRSS11A	-	NULL		0.363	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	T	NM_182606		68777060	-1	no_errors	ENST00000334830	ensembl	human	known	70_37	nonstop	SNP	0.860	G
TMTC2	160335	genome.wustl.edu	37	12	83526008	83526008	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:83526008A>C	ENST00000321196.3	+	12	3058	c.2351A>C	c.(2350-2352)aAc>aCc	p.N784T	TMTC2_ENST00000549919.1_Missense_Mutation_p.N778T	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	784					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GCTTTGATGAACCTGGGAGCC	0.498																																																	0													96.0	87.0	90.0					12																	83526008		2203	4300	6503	SO:0001583	missense	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2351A>C	12.37:g.83526008A>C	ENSP00000322300:p.Asn784Thr		B2RCU7|Q8N2K8	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N784T	ENST00000321196.3	37	c.2351	CCDS9025.1	12	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825481	0.50739	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	T;T	0.69806	-0.43;-0.43	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86694	0.5994	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89775	0.3957	10	0.51188	T	0.08	-17.2493	14.738	0.69430	1.0:0.0:0.0:0.0	.	784	Q8N394	TMTC2_HUMAN	T	784;778;539	ENSP00000322300:N784T;ENSP00000447609:N778T	ENSP00000322300:N784T	N	+	2	0	TMTC2	82050139	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	9.279000	0.95777	2.086000	0.62901	0.482000	0.46254	AAC	TMTC2	-	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.498	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	HGNC	protein_coding	OTTHUMT00000405663.1	A	NM_152588		83526008	+1	no_errors	ENST00000321196	ensembl	human	known	70_37	missense	SNP	1.000	C
TMTC3	160418	genome.wustl.edu	37	12	88589382	88589382	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:88589382T>G	ENST00000266712.6	+	14	2921	c.2701T>G	c.(2701-2703)Tta>Gta	p.L901V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	902					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGTTGCTGCTTTAAAAAGACT	0.318																																																	0													56.0	57.0	57.0					12																	88589382		2203	4297	6500	SO:0001583	missense	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2701T>G	12.37:g.88589382T>G	ENSP00000266712:p.Leu901Val		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L901V	ENST00000266712.6	37	c.2701	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	T	16.57	3.161388	0.57368	.	.	ENSG00000139324	ENST00000266712	T	0.70045	-0.45	5.42	4.27	0.50696	.	0.000000	0.64402	D	0.000001	T	0.68824	0.3043	L	0.27053	0.805	0.42178	D	0.991676	D	0.71674	0.998	D	0.77557	0.99	T	0.69157	-0.5219	10	0.51188	T	0.08	-9.299	9.3627	0.38206	0.0:0.1457:0.0:0.8543	.	901	Q6ZXV5-2	.	V	901	ENSP00000266712:L901V	ENSP00000266712:L901V	L	+	1	2	TMTC3	87113513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.884000	0.39668	0.998000	0.38996	0.482000	0.46254	TTA	TMTC3	-	NULL		0.318	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	T	NM_181783		88589382	+1	no_errors	ENST00000266712	ensembl	human	known	70_37	missense	SNP	1.000	G
TNC	3371	genome.wustl.edu	37	9	117791732	117791732	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:117791732A>G	ENST00000350763.4	-	25	6487	c.6076T>C	c.(6076-6078)Ttc>Ctc	p.F2026L	TNC_ENST00000423613.2_Missense_Mutation_p.F1753L|TNC_ENST00000537320.1_Missense_Mutation_p.F1389L|TNC_ENST00000345230.3_Missense_Mutation_p.F1389L|TNC_ENST00000341037.4_Missense_Mutation_p.F1844L|TNC_ENST00000346706.3_Missense_Mutation_p.F1480L|TNC_ENST00000340094.3_Missense_Mutation_p.F1662L|TNC_ENST00000542877.1_Missense_Mutation_p.F1663L|TNC_ENST00000535648.1_Missense_Mutation_p.F1571L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2026	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGTCTCAGGAACACCTATAAA	0.483																																																	0													149.0	134.0	139.0					9																	117791732		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6076T>C	9.37:g.117791732A>G	ENSP00000265131:p.Phe2026Leu		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.F2026L	ENST00000350763.4	37	c.6076	CCDS6811.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.164345|5.164345	0.94727|0.94727	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|D	0.20881|0.82433	2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04|-1.61	5.48|5.48	5.48|5.48	0.80851|0.80851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88209|0.88209	0.6375|0.6375	M|M	0.67517|0.67517	2.055|2.055	0.37273|0.37273	D|D	0.907472|0.907472	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.91635|.	0.997;0.999|.	D|D	0.91287|0.91287	0.5056|0.5056	10|7	0.87932|0.87932	D|D	0|0	.|.	15.5612|15.5612	0.76249|0.76249	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1753;2026|.	E9PC84;P24821|.	.;TENA_HUMAN|.	L|A	1662;1571;1480;1389;2026;1844;1753;1389;1663|588	ENSP00000344400:F1662L;ENSP00000438152:F1571L;ENSP00000344555:F1480L;ENSP00000345861:F1389L;ENSP00000265131:F2026L;ENSP00000339553:F1844L;ENSP00000411406:F1753L;ENSP00000443478:F1389L;ENSP00000442242:F1663L|ENSP00000445380:V588A	ENSP00000344400:F1662L|ENSP00000445380:V588A	F|V	-|-	1|2	0|0	TNC|TNC	116831553|116831553	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.826000|0.826000	0.46750|0.46750	8.807000|8.807000	0.91935|0.91935	2.090000|2.090000	0.63153|0.63153	0.533000|0.533000	0.62120|0.62120	TTC|GTT	TNC	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.483	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	A	NM_002160		117791732	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	missense	SNP	1.000	G
TNC	3371	genome.wustl.edu	37	9	117815268	117815268	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:117815268T>G	ENST00000350763.4	-	15	4991				TNC_ENST00000481475.1_5'UTR|TNC_ENST00000423613.2_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000542877.1_Missense_Mutation_p.I1172L|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C						bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTGCTAAAGATTAGCGTGCCC	0.413																																																	0																																										SO:0001627	intron_variant	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4579+4163A>C	9.37:g.117815268T>G			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.I1172L	ENST00000350763.4	37	c.3514	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	T	10.41	1.341368	0.24339	.	.	ENSG00000041982	ENST00000542877	T	0.56941	0.43	5.87	3.51	0.40186	.	.	.	.	.	T	0.51873	0.1700	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	6	0.30854	T	0.27	.	8.6072	0.33780	0.0:0.156:0.0:0.844	.	.	.	.	L	1172	ENSP00000442242:I1172L	ENSP00000442242:I1172L	I	-	1	0	TNC	116855089	0.984000	0.35163	0.792000	0.32020	0.911000	0.54048	0.798000	0.27014	0.467000	0.27218	0.533000	0.62120	ATC	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	T	NM_002160		117815268	-1	no_errors	ENST00000542877	ensembl	human	novel	70_37	missense	SNP	0.985	G
TNFRSF10B	8795	genome.wustl.edu	37	8	22884718	22884718	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:22884718T>G	ENST00000276431.4	-	7	1148	c.864A>C	c.(862-864)gaA>gaC	p.E288D	TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.E108D|TNFRSF10B_ENST00000519910.1_5'Flank|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.E259D	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	288					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GGACTTCCATTTCCTGCTCAG	0.542																																					GBM(94;1064 1342 1839 21060 42553)												0													94.0	87.0	89.0					8																	22884718		2203	4300	6503	SO:0001583	missense	8795			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.864A>C	8.37:g.22884718T>G	ENSP00000276431:p.Glu288Asp		O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pirsf_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10	p.E288D	ENST00000276431.4	37	c.864	CCDS6035.1	8	.	.	.	.	.	.	.	.	.	.	t	12.62	1.991896	0.35131	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	D;D;T	0.87029	-2.03;-2.2;2.6	2.6	0.0185	0.14117	.	7779.790000	0.00166	U	0.000015	D	0.88100	0.6346	L	0.58810	1.83	0.09310	N	1	P;D;D;D;P	0.67145	0.953;0.996;0.988;0.99;0.953	P;P;P;P;P	0.56278	0.551;0.787;0.76;0.795;0.551	T	0.71347	-0.4620	10	0.17369	T	0.5	.	2.94	0.05826	0.0:0.1515:0.2607:0.5878	.	108;288;288;259;53	B7Z588;B5BU36;O14763;O14763-2;Q7Z2I8	.;.;TR10B_HUMAN;.;.	D	288;259;108	ENSP00000276431:E288D;ENSP00000317859:E259D;ENSP00000443386:E108D	ENSP00000276431:E288D	E	-	3	2	TNFRSF10B	22940663	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.160000	0.10041	0.003000	0.14656	-0.256000	0.11100	GAA	TNFRSF10B	-	pirsf_TNFR_10		0.542	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFRSF10B	HGNC	protein_coding	OTTHUMT00000215099.2	T	NM_147187		22884718	-1	no_errors	ENST00000276431	ensembl	human	known	70_37	missense	SNP	0.000	G
TNFRSF1A	7132	genome.wustl.edu	37	12	6442300	6442301	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:6442300_6442301CT>AA	ENST00000162749.2	-	5	784_785	c.485_486AG>TT	c.(484-486)cAG>cTT	p.Q162L	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.Q119L|TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.Q162L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	162					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						ACACGGTGTTCTGTTTCTCCTG	0.564																																																	0																																										SO:0001583	missense	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.485_486delinsAA	12.37:g.6442300_6442301delinsAA	ENSP00000162749:p.Gln162Leu		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation|Nonsense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A|NULL	p.Q162H|p.R111*	ENST00000162749.2	37	c.486|c.331	CCDS8542.1	12																																																																																			TNFRSF1A	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg|NULL		0.564	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	HGNC	protein_coding	OTTHUMT00000399038.1	C|T	NM_001065		6442300|6442301	-1	no_errors	ENST00000162749|ENST00000534885	ensembl	human	known	70_37	missense|nonsense	SNP	0.902|0.871	A
TNFRSF1B	7133	genome.wustl.edu	37	1	12267024	12267024	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:12267024G>A	ENST00000376259.3	+	10	1422	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	445					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GGGGAGCACCGAAGAGAAGCC	0.642																																																	0													97.0	96.0	96.0					1																	12267024		2203	4300	6503	SO:0001583	missense	7133			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1333G>A	1.37:g.12267024G>A	ENSP00000365435:p.Glu445Lys		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.E445K	ENST00000376259.3	37	c.1333	CCDS145.1	1	.	.	.	.	.	.	.	.	.	.	G	9.230	1.035500	0.19590	.	.	ENSG00000028137	ENST00000376259	D	0.88664	-2.41	3.92	3.92	0.45320	.	7.892620	0.00610	U	0.000409	D	0.86806	0.6021	L	0.60455	1.87	0.41381	D	0.987554	P	0.43352	0.804	B	0.30495	0.116	T	0.78671	-0.2113	10	0.56958	D	0.05	-3.7031	11.7713	0.51960	0.0:0.0:1.0:0.0	.	445	P20333	TNR1B_HUMAN	K	445	ENSP00000365435:E445K	ENSP00000365435:E445K	E	+	1	0	TNFRSF1B	12189611	0.981000	0.34729	0.003000	0.11579	0.008000	0.06430	3.468000	0.53086	1.886000	0.54624	0.561000	0.74099	GAA	TNFRSF1B	-	NULL		0.642	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	HGNC	protein_coding	OTTHUMT00000005133.1	G	NM_001066		12267024	+1	no_errors	ENST00000376259	ensembl	human	known	70_37	missense	SNP	0.008	A
TNFSF11	8600	genome.wustl.edu	37	13	43181040	43181040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:43181040C>T	ENST00000239849.6	+	5	1091	c.940C>T	c.(940-942)Cga>Tga	p.R314*	TNFSF11_ENST00000398795.2_Nonsense_Mutation_p.R241*|TNFSF11_ENST00000358545.2_Nonsense_Mutation_p.R241*|TNFSF11_ENST00000405262.2_Nonsense_Mutation_p.R241*|TNFSF11_ENST00000544862.1_Nonsense_Mutation_p.R241*			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	314					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	TTTTAAAGTTCGAGATATAGA	0.408																																																	0													86.0	88.0	87.0					13																	43181040		2203	4300	6503	SO:0001587	stop_gained	8600			AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.940C>T	13.37:g.43181040C>T	ENSP00000239849:p.Arg314*		O14723|Q96Q17|Q9P2Q3	Nonsense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF	p.R314*	ENST00000239849.6	37	c.940	CCDS9384.1	13	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751226	0.89753	.	.	ENSG00000120659	ENST00000358545;ENST00000405262;ENST00000239849;ENST00000398795;ENST00000544862	.	.	.	5.74	3.94	0.45596	.	0.347229	0.29707	N	0.011416	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6228	10.6953	0.45894	0.315:0.5734:0.1116:0.0	.	.	.	.	X	241;241;314;241;241	.	ENSP00000239849:R314X	R	+	1	2	TNFSF11	42079040	0.993000	0.37304	0.723000	0.30687	0.399000	0.30720	2.041000	0.41213	0.808000	0.34231	0.563000	0.77884	CGA	TNFSF11	-	superfamily_Tumour_necrosis_fac-like,pirsf_TNF_ligand_10/11		0.408	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF11	HGNC	protein_coding	OTTHUMT00000044702.2	C			43181040	+1	no_errors	ENST00000239849	ensembl	human	known	70_37	nonsense	SNP	0.725	T
TNIK	23043	genome.wustl.edu	37	3	170802051	170802051	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:170802051G>A	ENST00000436636.2	-	26	3406	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L	TNIK_ENST00000538048.1_Missense_Mutation_p.S973L|TNIK_ENST00000284483.8_Missense_Mutation_p.S1013L|TNIK_ENST00000357327.5_Missense_Mutation_p.S992L|TNIK_ENST00000341852.6_Missense_Mutation_p.S937L|TNIK_ENST00000460047.1_Missense_Mutation_p.S958L|TNIK_ENST00000488470.1_Missense_Mutation_p.S966L|TNIK_ENST00000475336.1_Missense_Mutation_p.S929L|TNIK_ENST00000470834.1_Missense_Mutation_p.S984L|TNIK_ENST00000369326.5_Missense_Mutation_p.S999L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1021	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATTTACCACCGAAATCTTTCT	0.398																																																	0													151.0	145.0	147.0					3																	170802051		1855	4103	5958	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3062C>T	3.37:g.170802051G>A	ENSP00000399511:p.Ser1021Leu		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.S1021L	ENST00000436636.2	37	c.3062	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696872	0.88830	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.79845	-1.26;-1.26;-1.3;-1.29;-1.26;-1.28;-1.27;-1.31;-1.31;-1.27	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90920	0.7146	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.997;0.997;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D;D	0.80764	0.964;0.926;0.964;0.964;0.994;0.946;0.964;0.959	D	0.91373	0.5121	10	0.87932	D	0	.	20.0765	0.97746	0.0:0.0:1.0:0.0	.	929;984;958;937;1013;992;966;1021	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	L	1021;999;973;937;1013;929;992;958;966;984	ENSP00000399511:S1021L;ENSP00000358332:S999L;ENSP00000443278:S973L;ENSP00000345352:S937L;ENSP00000284483:S1013L;ENSP00000418156:S929L;ENSP00000349880:S992L;ENSP00000418916:S958L;ENSP00000418378:S966L;ENSP00000419990:S984L	ENSP00000284483:S1013L	S	-	2	0	TNIK	172284745	1.000000	0.71417	0.991000	0.47740	0.510000	0.34073	9.416000	0.97383	2.809000	0.96659	0.650000	0.86243	TCG	TNIK	-	NULL		0.398	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	G	XM_039796		170802051	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	A
TNN	63923	genome.wustl.edu	37	1	175046842	175046842	+	Silent	SNP	G	G	A	rs149261705		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:175046842G>A	ENST00000239462.4	+	2	401	c.288G>A	c.(286-288)caG>caA	p.Q96Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	96					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGACGCCACAGAAGGACTGCG	0.602																																																	0								G		0,4406		0,0,2203	58.0	56.0	56.0		288	5.5	1.0	1	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNN	NM_022093.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		96/1300	175046842	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.288G>A	1.37:g.175046842G>A			B9EGP3|Q5R360	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.Q96	ENST00000239462.4	37	c.288	CCDS30943.1	1																																																																																			TNN	-	NULL		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	G	XM_040527		175046842	+1	no_errors	ENST00000239462	ensembl	human	known	70_37	silent	SNP	0.989	A
TNN	63923	genome.wustl.edu	37	1	175063328	175063328	+	Silent	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:175063328C>A	ENST00000239462.4	+	7	1640	c.1527C>A	c.(1525-1527)gtC>gtA	p.V509V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	509	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CATACAAGGTCTACGTGTGGG	0.547																																																	0													96.0	73.0	81.0					1																	175063328		2203	4300	6503	SO:0001819	synonymous_variant	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1527C>A	1.37:g.175063328C>A			B9EGP3|Q5R360	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.V509	ENST00000239462.4	37	c.1527	CCDS30943.1	1																																																																																			TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	C	XM_040527		175063328	+1	no_errors	ENST00000239462	ensembl	human	known	70_37	silent	SNP	0.977	A
TNS1	7145	genome.wustl.edu	37	2	218724392	218724392	+	Intron	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:218724392T>A	ENST00000171887.4	-	17	1507				TNS1_ENST00000430930.1_Intron|TNS1_ENST00000419504.1_Intron|TNS1_ENST00000310858.6_Missense_Mutation_p.I394F|TNS1_ENST00000480665.1_5'Flank	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1						cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ATGCTTCCAATTGACTGGCTA	0.483																																																	0																																										SO:0001627	intron_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1055-10582A>T	2.37:g.218724392T>A			Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I394F	ENST00000171887.4	37	c.1180	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	T	9.668	1.146079	0.21288	.	.	ENSG00000079308	ENST00000310858	D	0.95853	-3.83	3.2	-5.65	0.02459	.	.	.	.	.	D	0.89026	0.6598	.	.	.	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.76561	-0.2914	8	0.87932	D	0	.	2.46	0.04538	0.1513:0.4373:0.1679:0.2435	.	394	Q6IPI5	.	F	394	ENSP00000308321:I394F	ENSP00000308321:I394F	I	-	1	0	TNS1	218432637	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.337000	0.02657	-1.337000	0.02236	-0.415000	0.06103	ATT	TNS1	-	NULL		0.483	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	T	NM_022648		218724392	-1	no_errors	ENST00000310858	ensembl	human	putative	70_37	missense	SNP	0.000	A
TNS3	64759	genome.wustl.edu	37	7	47323307	47323307	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:47323307T>A	ENST00000398879.1	-	28	4451	c.4085A>T	c.(4084-4086)gAc>gTc	p.D1362V	TNS3_ENST00000355730.3_Missense_Mutation_p.D1122V|TNS3_ENST00000311160.9_Missense_Mutation_p.D1362V			Q68CZ2	TENS3_HUMAN	tensin 3	1362					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCTCTGATTGTCTGTCAGGGT	0.592																																																	0													60.0	63.0	62.0					7																	47323307		2064	4243	6307	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.4085A>T	7.37:g.47323307T>A	ENSP00000381854:p.Asp1362Val		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D1362V	ENST00000398879.1	37	c.4085	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631135	0.87660	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	T;T;T	0.68765	-0.35;-0.35;-0.35	5.66	5.66	0.87406	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.178191	0.46758	D	0.000269	D	0.85410	0.5690	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88812	0.3292	10	0.87932	D	0	-49.3846	13.844	0.63457	0.0:0.0:0.0:1.0	.	1362	Q68CZ2	TENS3_HUMAN	V	1362;1362;1122;818	ENSP00000312143:D1362V;ENSP00000381854:D1362V;ENSP00000347968:D1122V	ENSP00000312143:D1362V	D	-	2	0	TNS3	47289832	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.780000	0.85658	2.168000	0.68352	0.533000	0.62120	GAC	TNS3	-	pfam_PTB,smart_PTyr_interaction_dom		0.592	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	T	NM_022748		47323307	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	missense	SNP	1.000	A
TNS3	64759	genome.wustl.edu	37	7	47385795	47385795	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:47385795T>C	ENST00000398879.1	-	18	2807	c.2441A>G	c.(2440-2442)gAc>gGc	p.D814G	TNS3_ENST00000355730.3_Missense_Mutation_p.D574G|TNS3_ENST00000311160.9_Missense_Mutation_p.D814G			Q68CZ2	TENS3_HUMAN	tensin 3	814					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTCTTTGACGTCCGCTGGTGA	0.592																																																	0													61.0	65.0	64.0					7																	47385795		2017	4180	6197	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2441A>G	7.37:g.47385795T>C	ENSP00000381854:p.Asp814Gly		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D814G	ENST00000398879.1	37	c.2441	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	T	11.61	1.689203	0.29962	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93906	-2.88;-2.88;-3.31;-2.99	5.33	5.33	0.75918	.	1.458530	0.03665	N	0.243145	D	0.90232	0.6946	L	0.27053	0.805	0.54753	D	0.999986	B	0.23442	0.085	B	0.22386	0.039	T	0.70410	-0.4879	10	0.42905	T	0.14	-22.2253	11.6736	0.51417	0.0:0.0:0.0:1.0	.	814	Q68CZ2	TENS3_HUMAN	G	814;924;814;574;270;917	ENSP00000312143:D814G;ENSP00000381854:D814G;ENSP00000347968:D574G;ENSP00000414358:D917G	ENSP00000312143:D814G	D	-	2	0	TNS3	47352320	0.075000	0.21258	0.020000	0.16555	0.226000	0.24999	1.452000	0.35156	1.995000	0.58328	0.533000	0.62120	GAC	TNS3	-	NULL		0.592	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	T	NM_022748		47385795	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	missense	SNP	0.081	C
TNXB	7148	genome.wustl.edu	37	6	32061140	32061140	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:32061140A>C	ENST00000479795.1	-	5	2592	c.2452T>G	c.(2452-2454)Ttt>Gtt	p.F818V	TNXB_ENST00000375244.3_Intron|TNXB_ENST00000375247.2_Intron			P22105	TENX_HUMAN	tenascin XB	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGAAGAAAAAATTCAAGCTA	0.398																																																	0																																										SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.2452T>G	6.37:g.32061140A>C	ENSP00000418248:p.Phe818Val		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom	p.F818V	ENST00000479795.1	37	c.2452		6	.	.	.	.	.	.	.	.	.	.	A	9.453	1.091184	0.20471	.	.	ENSG00000168477	ENST00000479795	D	0.92199	-2.99	3.85	0.156	0.14910	.	.	.	.	.	T	0.76543	0.4002	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.68021	-0.5519	6	0.35671	T	0.21	.	3.0045	0.06024	0.5133:0.2313:0.2554:0.0	.	.	.	.	V	818	ENSP00000418248:F818V	ENSP00000418248:F818V	F	-	1	0	TNXB	32169118	0.016000	0.18221	0.003000	0.11579	0.351000	0.29236	1.911000	0.39937	0.023000	0.15187	0.533000	0.62120	TTT	TNXB	-	NULL		0.398	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000357059.1	A	NM_019105		32061140	-1	no_errors	ENST00000479795	ensembl	human	putative	70_37	missense	SNP	0.004	C
TOPAZ1	375337	genome.wustl.edu	37	3	44285783	44285783	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:44285783G>T	ENST00000309765.4	+	2	1953	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	595						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										ATGATAAAAAGATAAAATCAG	0.328																																																	0													40.0	35.0	36.0					3																	44285783		692	1589	2281	SO:0001583	missense	375337			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.1785G>T	3.37:g.44285783G>T	ENSP00000310303:p.Lys595Asn			Missense_Mutation	SNP	NULL	p.K595N	ENST00000309765.4	37	c.1785	CCDS46809.1	3	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644039	0.29246	.	.	ENSG00000173769	ENST00000309765	T	0.11385	2.78	5.51	-1.03	0.10102	.	0.296597	0.31859	N	0.006952	T	0.06917	0.0176	L	0.32530	0.975	0.09310	N	0.99999	B	0.21753	0.06	B	0.24006	0.05	T	0.24799	-1.0150	10	0.87932	D	0	-9.9804	4.1887	0.10411	0.5221:0.0:0.2509:0.227	.	595	Q8N9V7	CC077_HUMAN	N	595	ENSP00000310303:K595N	ENSP00000310303:K595N	K	+	3	2	C3orf77	44260787	0.005000	0.15991	0.046000	0.18839	0.975000	0.68041	-0.285000	0.08410	-0.025000	0.13918	0.585000	0.79938	AAG	TOPAZ1	-	NULL		0.328	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPAZ1	HGNC	protein_coding	OTTHUMT00000343247.1	G	NM_001145030		44285783	+1	no_errors	ENST00000309765	ensembl	human	known	70_37	missense	SNP	0.089	T
TP53BP1	7158	genome.wustl.edu	37	15	43705389	43705389	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:43705389T>C	ENST00000263801.3	-	24	5470	c.5218A>G	c.(5218-5220)Aca>Gca	p.T1740A	TP53BP1_ENST00000382039.3_Missense_Mutation_p.T1695A|TP53BP1_ENST00000382044.4_Missense_Mutation_p.T1745A|TP53BP1_ENST00000450115.2_Missense_Mutation_p.T1743A	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1740	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCACTGGTTGTGGCCATGGTA	0.557								Other conserved DNA damage response genes																																									0													107.0	87.0	94.0					15																	43705389		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5218A>G	15.37:g.43705389T>C	ENSP00000263801:p.Thr1740Ala		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.T1745A	ENST00000263801.3	37	c.5233	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750154	0.69533	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	6.03	6.03	0.97812	BRCT (3);	0.176531	0.51477	D	0.000082	D	0.82848	0.5126	L	0.27053	0.805	0.39080	D	0.960891	P;D;D	0.55800	0.954;0.973;0.973	B;P;P	0.50405	0.437;0.64;0.64	T	0.80815	-0.1214	10	0.18276	T	0.48	-10.9738	11.5696	0.50826	0.0:0.0687:0.0:0.9312	.	1740;1745;1743	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	A	1740;1745;1695;1743	ENSP00000263801:T1740A;ENSP00000371475:T1745A;ENSP00000371470:T1695A;ENSP00000393497:T1743A	ENSP00000263801:T1740A	T	-	1	0	TP53BP1	41492681	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	3.876000	0.56115	2.308000	0.77769	0.533000	0.62120	ACA	TP53BP1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.557	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	T			43705389	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	0.963	C
TPH1	7166	genome.wustl.edu	37	11	18057643	18057643	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:18057643C>A	ENST00000250018.2	-	2	726	c.164G>T	c.(163-165)aGa>aTa	p.R55I	TPH1_ENST00000341556.2_Missense_Mutation_p.R55I	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	55	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGAGTTTCTTCTTTTTGATTT	0.353																																																	0													115.0	109.0	111.0					11																	18057643		2199	4293	6492	SO:0001583	missense	7166			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.164G>T	11.37:g.18057643C>A	ENSP00000250018:p.Arg55Ile		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.R55I	ENST00000250018.2	37	c.164	CCDS7829.1	11	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880016	0.91740	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99136	-5.47;-5.47;-5.47	5.51	4.59	0.56863	Amino acid-binding ACT (1);	0.040274	0.85682	D	0.000000	D	0.98305	0.9438	M	0.79614	2.46	0.80722	D	1	B	0.17852	0.024	B	0.29077	0.098	D	0.98358	1.0547	10	0.45353	T	0.12	-13.2604	15.0807	0.72113	0.0:0.9304:0.0:0.0696	.	55	P17752	TPH1_HUMAN	I	55;55;65	ENSP00000250018:R55I;ENSP00000343550:R55I;ENSP00000436081:R65I	ENSP00000250018:R55I	R	-	2	0	TPH1	18014219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.008000	0.70739	1.433000	0.47394	0.655000	0.94253	AGA	TPH1	-	pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase		0.353	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH1	HGNC	protein_coding	OTTHUMT00000389696.1	C	NM_004179		18057643	-1	no_errors	ENST00000341556	ensembl	human	known	70_37	missense	SNP	1.000	A
TPM2	7169	genome.wustl.edu	37	9	35685532	35685532	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:35685532C>T	ENST00000360958.2	-	4	495	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	TPM2_ENST00000378292.3_Missense_Mutation_p.E131K|TPM2_ENST00000378300.5_Missense_Mutation_p.E131K|TPM2_ENST00000329305.2_Missense_Mutation_p.E131K	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	131					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCGGTTTTCGATGACCTTC	0.567																																																	0													135.0	117.0	123.0					9																	35685532		2203	4300	6503	SO:0001583	missense	7169				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.391G>A	9.37:g.35685532C>T	ENSP00000354219:p.Glu131Lys		A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.E131K	ENST00000360958.2	37	c.391	CCDS6587.1	9	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975360	0.92919	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.99005	-5.32;-5.32;-5.32;-5.32	5.11	5.11	0.69529	.	.	.	.	.	D	0.99616	0.9860	H	0.98199	4.17	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.975;1.0;1.0;1.0	D;P;D;D;D	0.97110	0.997;0.894;0.998;1.0;0.994	D	0.97629	1.0141	9	0.87932	D	0	.	18.7183	0.91684	0.0:1.0:0.0:0.0	.	131;131;131;131;131	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	K	131	ENSP00000367550:E131K;ENSP00000367542:E131K;ENSP00000367541:E131K;ENSP00000354219:E131K	ENSP00000367541:E131K	E	-	1	0	TPM2	35675532	1.000000	0.71417	0.958000	0.39756	0.942000	0.58702	7.647000	0.83462	2.654000	0.90174	0.561000	0.74099	GAA	TPM2	-	pfam_Tropomyosin,prints_Tropomyosin		0.567	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1	C	NM_003289		35685532	-1	no_errors	ENST00000378300	ensembl	human	known	70_37	missense	SNP	1.000	T
TPTE	7179	genome.wustl.edu	37	21	10906875	10906875	+	3'UTR	SNP	C	C	A	rs367961014	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:10906875C>A	ENST00000361285.4	-	0	2015				TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_3'UTR|TPTE_ENST00000298232.7_3'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAACATAATTCTTTCCCAGAA	0.363													.|||	2	0.000399361	0.0015	0.0	5008	,	,		34980	0.0		0.0	False		,,,				2504	0.0																0								C	,,	0,4406		0,0,2203	89.0	78.0	82.0		,,	-2.7	0.0	21		82	1,8599		0,1,4299	no	utr-3,utr-3,utr-3	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	,,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,,	,,	10906875	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.*30G>T	21.37:g.10906875C>A			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	RNA	SNP	-	NULL	ENST00000361285.4	37	NULL	CCDS13560.2	21																																																																																			TPTE	-	-		0.363	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	C			10906875	-1	no_errors	ENST00000415664	ensembl	human	known	70_37	rna	SNP	0.000	A
TPTE2P6	374491	genome.wustl.edu	37	13	25160920	25160920	+	RNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:25160920A>C	ENST00000453498.1	+	0	875				TPTE2P6_ENST00000440905.1_RNA																							ATGATGGAAAACCTGCTACTG	0.438																																																	0																																												374491																															13.37:g.25160920A>C				RNA	SNP	-	NULL	ENST00000453498.1	37	NULL		13																																																																																			TPTE2P6	-	-		0.438	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	TPTE2P6	HGNC	processed_transcript	OTTHUMT00000044193.1	A			25160920	+1	no_errors	ENST00000440905	ensembl	human	known	70_37	rna	SNP	0.001	C
TRAF3IP3	80342	genome.wustl.edu	37	1	209949292	209949292	+	Intron	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:209949292G>T	ENST00000367024.1	+	11	1569				TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000010338.4_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000367023.1_Intron|TRAF3IP3_ENST00000367025.3_Intron|TRAF3IP3_ENST00000400959.3_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3							integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCATGCAAATGAACTAAGCGT	0.413																																																	0																																										SO:0001627	intron_variant	80342				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1053+211G>T	1.37:g.209949292G>T			A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	RNA	SNP	-	NULL	ENST00000367024.1	37	NULL	CCDS1490.2	1																																																																																			TRAF3IP3	-	-		0.413	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	G			209949292	+1	no_errors	ENST00000488702	ensembl	human	known	70_37	rna	SNP	0.021	T
TRAK2	66008	genome.wustl.edu	37	2	202284117	202284117	+	Intron	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:202284117A>C	ENST00000332624.3	-	2	520				TRAK2_ENST00000430254.1_Intron|TRAK2_ENST00000451703.1_5'UTR	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2						protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						cttagcaataaaaagaaacaa	0.333																																																	0																																										SO:0001627	intron_variant	66008			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.91+1022T>G	2.37:g.202284117A>C			E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	RNA	SNP	-	NULL	ENST00000332624.3	37	NULL	CCDS2347.1	2																																																																																			TRAK2	-	-		0.333	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	A	NM_015049		202284117	-1	no_errors	ENST00000451703	ensembl	human	putative	70_37	rna	SNP	0.103	C
TRAM1L1	133022	genome.wustl.edu	37	4	118005916	118005916	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:118005916G>T	ENST00000310754.4	-	1	820	c.634C>A	c.(634-636)Ctc>Atc	p.L212I		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	212	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AAGTACAAGAGATAAGCTCCA	0.383																																																	0													136.0	129.0	131.0					4																	118005916		2203	4300	6503	SO:0001583	missense	133022			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.634C>A	4.37:g.118005916G>T	ENSP00000309402:p.Leu212Ile		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.L212I	ENST00000310754.4	37	c.634	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	G	2.336	-0.352243	0.05173	.	.	ENSG00000174599	ENST00000310754	D	0.85171	-1.95	3.88	3.88	0.44766	TRAM/LAG1/CLN8 homology domain (3);	0.477448	0.23528	N	0.047202	T	0.77772	0.4180	L	0.38838	1.175	0.09310	N	1	B	0.16802	0.019	B	0.24006	0.05	T	0.63470	-0.6630	10	0.27082	T	0.32	-25.9915	11.6569	0.51324	0.0:0.0:1.0:0.0	.	212	Q8N609	TR1L1_HUMAN	I	212	ENSP00000309402:L212I	ENSP00000309402:L212I	L	-	1	0	TRAM1L1	118225364	0.950000	0.32346	0.045000	0.18777	0.016000	0.09150	0.514000	0.22786	2.448000	0.82819	0.655000	0.94253	CTC	TRAM1L1	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom		0.383	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	G	NM_152402		118005916	-1	no_errors	ENST00000310754	ensembl	human	known	70_37	missense	SNP	0.049	T
TRAPPC12	51112	genome.wustl.edu	37	2	3428348	3428348	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:3428348C>T	ENST00000324266.5	+	5	1526	c.1331C>T	c.(1330-1332)gCt>gTt	p.A444V	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A444V	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	444					vesicle-mediated transport (GO:0016192)			p.A444V(2)									TTCCAGAATGCTGAGATGGAA	0.448																																																	2	Substitution - Missense(2)	lung(2)											180.0	177.0	178.0					2																	3428348		2203	4300	6503	SO:0001583	missense	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1331C>T	2.37:g.3428348C>T	ENSP00000324318:p.Ala444Val		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A444V	ENST00000324266.5	37	c.1331	CCDS1652.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316204	0.81469	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.51574	0.7;0.7	5.6	5.6	0.85130	.	0.111099	0.64402	D	0.000011	T	0.68851	0.3046	M	0.76433	2.335	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68483	0.958;0.917	T	0.67833	-0.5568	10	0.42905	T	0.14	.	18.6072	0.91271	0.0:1.0:0.0:0.0	.	427;444	E7ENL7;Q8WVT3	.;TPC12_HUMAN	V	444;427;444	ENSP00000371544:A444V;ENSP00000324318:A444V	ENSP00000303612:A427V	A	+	2	0	TTC15	3407355	1.000000	0.71417	0.942000	0.38095	0.926000	0.56050	7.395000	0.79876	2.637000	0.89404	0.563000	0.77884	GCT	TRAPPC12	-	NULL		0.448	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	HGNC	protein_coding	OTTHUMT00000206693.2	C	NM_016030		3428348	+1	no_errors	ENST00000324266	ensembl	human	known	70_37	missense	SNP	1.000	T
TRAPPC3	27095	genome.wustl.edu	37	1	36605230	36605230	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:36605230T>G	ENST00000373166.3	-	3	331				TRAPPC3_ENST00000462715.1_Intron|TRAPPC3_ENST00000373159.1_Intron|TRAPPC3_ENST00000373163.1_Intron|TRAPPC3_ENST00000373162.1_Intron	NM_001270894.1|NM_014408.4	NP_001257823.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3						ER to Golgi vesicle-mediated transport (GO:0006888)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|TRAPP complex (GO:0030008)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				TTTGGGAGATTAAAGGCCTCT	0.458																																																	0																																										SO:0001627	intron_variant	27095			AF041432	CCDS404.1, CCDS59194.1, CCDS72757.1, CCDS72758.1	1p34.2	2011-10-10			ENSG00000054116	ENSG00000054116		"""Trafficking protein particle complex"""	19942	protein-coding gene	gene with protein product		610955				8619474	Standard	NM_014408		Approved	BET3	uc031pls.1	O43617	OTTHUMG00000007664	ENST00000373166.3:c.240+90A>C	1.37:g.36605230T>G			A6NDN0|B2RDN2|D3DPS2	RNA	SNP	-	NULL	ENST00000373166.3	37	NULL	CCDS404.1	1																																																																																			TRAPPC3	-	-		0.458	TRAPPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC3	HGNC	protein_coding	OTTHUMT00000020384.1	T	NM_014408		36605230	-1	no_errors	ENST00000497251	ensembl	human	known	70_37	rna	SNP	0.001	G
TRAPPC8	22878	genome.wustl.edu	37	18	29429636	29429636	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:29429636G>T	ENST00000283351.4	-	25	3963	c.3628C>A	c.(3628-3630)Cca>Aca	p.P1210T	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P1156T	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1210					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.P1210T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAGCTTGTGGTTTTTTCAAT	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)											96.0	90.0	92.0					18																	29429636		2203	4300	6503	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3628C>A	18.37:g.29429636G>T	ENSP00000283351:p.Pro1210Thr		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	NULL	p.P1210T	ENST00000283351.4	37	c.3628	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	G	4.853	0.158513	0.09236	.	.	ENSG00000153339	ENST00000283351	T	0.16743	2.32	5.57	-2.57	0.06248	.	1.181700	0.05698	N	0.593509	T	0.05135	0.0137	N	0.01874	-0.695	0.36324	D	0.858422	B	0.02656	0.0	B	0.06405	0.002	T	0.47623	-0.9103	10	0.12766	T	0.61	.	4.4232	0.11490	0.1433:0.0869:0.1649:0.6049	.	1210	Q9Y2L5	TPPC8_HUMAN	T	1210	ENSP00000283351:P1210T	ENSP00000283351:P1210T	P	-	1	0	TRAPPC8	27683634	0.852000	0.29690	0.153000	0.22517	0.420000	0.31355	0.265000	0.18515	-0.016000	0.14127	-0.182000	0.12963	CCA	TRAPPC8	-	NULL		0.348	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	G	NM_014939		29429636	-1	no_errors	ENST00000283351	ensembl	human	known	70_37	missense	SNP	0.025	T
TRIM40	135644	genome.wustl.edu	37	6	30105115	30105115	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:30105115C>A	ENST00000396581.1	+	2	688	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	TRIM40_ENST00000307859.4_Missense_Mutation_p.S101Y|TRIM40_ENST00000376724.2_Missense_Mutation_p.S101Y			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	101					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						GAACACATGTCTCATCATGAA	0.557																																																	0													180.0	149.0	160.0					6																	30105115		1510	2709	4219	SO:0001583	missense	135644			AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.302C>A	6.37:g.30105115C>A	ENSP00000379826:p.Ser101Tyr		Q5SRJ6|Q5SS36|Q8TD96	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_tRNA-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.S101Y	ENST00000396581.1	37	c.302		6	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250480	0.39797	.	.	ENSG00000204614	ENST00000396581;ENST00000376724;ENST00000307859	T;T;T	0.58060	0.36;0.36;0.36	4.71	1.83	0.25207	Zinc finger, B-box (1);	1.362050	0.04954	N	0.460800	T	0.37404	0.1002	M	0.72118	2.19	0.09310	N	1	P;D	0.56521	0.947;0.976	P;P	0.47744	0.556;0.556	T	0.09487	-1.0672	10	0.36615	T	0.2	.	4.1216	0.10108	0.1832:0.618:0.0:0.1987	.	101;101	Q5SRJ6;Q6P9F5	.;TRI40_HUMAN	Y	101	ENSP00000379826:S101Y;ENSP00000365914:S101Y;ENSP00000308310:S101Y	ENSP00000308310:S101Y	S	+	2	0	TRIM40	30213094	0.045000	0.20229	0.019000	0.16419	0.619000	0.37552	0.593000	0.23999	0.601000	0.29879	0.573000	0.79308	TCT	TRIM40	-	pfscan_Znf_B-box		0.557	TRIM40-001	KNOWN	basic	protein_coding	TRIM40	HGNC	protein_coding	OTTHUMT00000076117.2	C			30105115	+1	no_errors	ENST00000376724	ensembl	human	known	70_37	missense	SNP	0.009	A
TRIM39	56658	genome.wustl.edu	37	6	30309562	30309562	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:30309562C>T	ENST00000396547.1	+	8	1243	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	TRIM39_ENST00000396548.1_Silent_p.F331F|TRIM39_ENST00000396551.3_Silent_p.F331F|TRIM39_ENST00000540416.1_Silent_p.F331F|TRIM39_ENST00000376656.4_Silent_p.F361F|TRIM39-RPP21_ENST00000513556.1_Silent_p.F243F|TRIM39_ENST00000376659.5_Silent_p.F331F			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	361	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GCGTCAAGTTCGTGGAGACAA	0.572																																																	0													105.0	68.0	81.0					6																	30309562		1511	2709	4220	SO:0001819	synonymous_variant	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1083C>T	6.37:g.30309562C>T			Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.F361	ENST00000396547.1	37	c.1083	CCDS34377.1	6																																																																																			TRIM39	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.572	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2	C	NM_172016		30309562	+1	no_errors	ENST00000376656	ensembl	human	known	70_37	silent	SNP	0.777	T
TRIM41	90933	genome.wustl.edu	37	5	180660643	180660643	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:180660643G>A	ENST00000315073.5	+	5	1881	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.E391K	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	391					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)			CAGGTGTGAAGAGGTACAGCT	0.597																																																	0													64.0	67.0	66.0					5																	180660643		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.1171G>A	5.37:g.180660643G>A	ENSP00000320869:p.Glu391Lys		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.E391K	ENST00000315073.5	37	c.1171	CCDS4466.1	5	.	.	.	.	.	.	.	.	.	.	G	4.375	0.069153	0.08436	.	.	ENSG00000146063	ENST00000515499;ENST00000351937;ENST00000315073	T;T;T	0.53857	3.59;1.07;0.6	4.9	4.9	0.64082	.	0.230484	0.30410	N	0.009696	T	0.20373	0.0490	N	0.01352	-0.895	0.31738	N	0.63615	B;P	0.40476	0.003;0.718	B;B	0.35353	0.001;0.201	T	0.17684	-1.0361	10	0.09084	T	0.74	.	13.4255	0.61022	0.0:0.0:1.0:0.0	.	391;391	Q8WV44;Q8WV44-2	TRI41_HUMAN;.	K	101;391;391	ENSP00000426803:E101K;ENSP00000336749:E391K;ENSP00000320869:E391K	ENSP00000320869:E391K	E	+	1	0	TRIM41	180593249	0.954000	0.32549	1.000000	0.80357	0.995000	0.86356	1.296000	0.33389	2.533000	0.85409	0.655000	0.94253	GAG	TRIM41	-	pfam_DUF3631		0.597	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM41	HGNC	protein_coding	OTTHUMT00000253574.3	G	NM_201627		180660643	+1	no_errors	ENST00000315073	ensembl	human	known	70_37	missense	SNP	1.000	A
TRIM67	440730	genome.wustl.edu	37	1	231344807	231344807	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:231344807C>T	ENST00000366653.5	+	8	1934	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	TRIM67_ENST00000449018.3_Missense_Mutation_p.A583V|TRIM67_ENST00000366652.2_Missense_Mutation_p.A645V|TRIM67_ENST00000444294.3_Missense_Mutation_p.A643V			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	645	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGCACAGCTGCGTTCTCCAAG	0.617																																																	0													90.0	99.0	96.0					1																	231344807		2179	4282	6461	SO:0001583	missense	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1934C>T	1.37:g.231344807C>T	ENSP00000355613:p.Ala645Val		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.A645V	ENST00000366653.5	37	c.1934	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974860	0.74360	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	L	0.52266	1.64	0.80722	D	1	D	0.61697	0.99	P	0.53760	0.734	T	0.77749	-0.2471	10	0.41790	T	0.15	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	645	Q6ZTA4	TRI67_HUMAN	V	643;645;583;645	ENSP00000412124:A643V;ENSP00000355612:A645V;ENSP00000400163:A583V;ENSP00000355613:A645V	ENSP00000355612:A645V	A	+	2	0	TRIM67	229411430	1.000000	0.71417	0.269000	0.24586	0.110000	0.19582	4.755000	0.62198	2.854000	0.98071	0.655000	0.94253	GCG	TRIM67	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.617	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	C	NM_001004342		231344807	+1	no_errors	ENST00000366652	ensembl	human	known	70_37	missense	SNP	0.998	T
TRIM58	25893	genome.wustl.edu	37	1	248039699	248039699	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:248039699A>T	ENST00000366481.3	+	6	1417	c.1369A>T	c.(1369-1371)Atc>Ttc	p.I457F	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	457	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACTCCTCTTATCTTGCCACC	0.408																																																	0													126.0	120.0	122.0					1																	248039699		2203	4300	6503	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1369A>T	1.37:g.248039699A>T	ENSP00000355437:p.Ile457Phe		Q6B0H9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,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.I457F	ENST00000366481.3	37	c.1369	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849020	0.32699	.	.	ENSG00000162722	ENST00000366481	T	0.61158	0.13	4.05	-4.63	0.03359	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.750321	0.12128	N	0.497058	T	0.49558	0.1564	L	0.33293	1	0.09310	N	1	P	0.50272	0.933	P	0.57057	0.812	T	0.43294	-0.9400	10	0.49607	T	0.09	.	2.2418	0.04022	0.2818:0.1545:0.4132:0.1505	.	457	Q8NG06	TRI58_HUMAN	F	457	ENSP00000355437:I457F	ENSP00000355437:I457F	I	+	1	0	TRIM58	246106322	0.001000	0.12720	0.000000	0.03702	0.032000	0.12392	0.819000	0.27308	-0.957000	0.03627	-0.280000	0.10049	ATC	TRIM58	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.408	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	A	NM_015431		248039699	+1	no_errors	ENST00000366481	ensembl	human	known	70_37	missense	SNP	0.000	T
TRIM69	140691	genome.wustl.edu	37	15	45051031	45051031	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:45051031G>T	ENST00000559390.1	+	5	1720	c.792G>T	c.(790-792)caG>caT	p.Q264H	TRIM69_ENST00000560442.1_Missense_Mutation_p.Q60H|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.Q264H|TRIM69_ENST00000338264.4_Missense_Mutation_p.Q105H|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000558173.1_Missense_Mutation_p.Q60H			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	264					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CGGAACAACAGAACTCCTTCG	0.468																																					Pancreas(84;519 1450 1802 20427 34706)												0													65.0	55.0	58.0					15																	45051031		2198	4298	6496	SO:0001583	missense	140691			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.792G>T	15.37:g.45051031G>T	ENSP00000453177:p.Gln264His		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.Q264H	ENST00000559390.1	37	c.792	CCDS32220.1	15	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471432	0.26423	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.57595	1.07;0.39	5.97	3.59	0.41128	.	0.207707	0.32624	N	0.005852	T	0.31544	0.0800	N	0.19112	0.55	0.29335	N	0.866414	B;B	0.26775	0.159;0.097	B;B	0.20955	0.032;0.025	T	0.09207	-1.0685	10	0.35671	T	0.21	.	7.111	0.25390	0.091:0.2466:0.6624:0.0	.	105;264	Q86WT6-2;Q86WT6	.;TRI69_HUMAN	H	264;105	ENSP00000332284:Q264H;ENSP00000342922:Q105H	ENSP00000332284:Q264H	Q	+	3	2	TRIM69	42838323	0.998000	0.40836	1.000000	0.80357	0.394000	0.30568	0.382000	0.20635	2.835000	0.97688	0.591000	0.81541	CAG	TRIM69	-	NULL		0.468	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM69	HGNC	protein_coding	OTTHUMT00000416171.1	G			45051031	+1	no_errors	ENST00000329464	ensembl	human	known	70_37	missense	SNP	0.979	T
TRIM7	81786	genome.wustl.edu	37	5	180622600	180622600	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:180622600C>T	ENST00000274773.7	-	7	1163	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393315.1_Missense_Mutation_p.E160K|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000422067.2_Missense_Mutation_p.E160K|CTC-338M12.5_ENST00000508877.1_RNA|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.E186K|TRIM7_ENST00000361809.3_Missense_Mutation_p.E160K|CTC-338M12.6_ENST00000512508.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	368	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|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)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TGGGCCCGCTCGCCGAGGCGC	0.667																																					Esophageal Squamous(128;2258 2308 35507 48647)												0													37.0	41.0	40.0					5																	180622600		2195	4258	6453	SO:0001583	missense	81786			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1102G>A	5.37:g.180622600C>T	ENSP00000274773:p.Glu368Lys		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,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,prints_Znf_B-box_chordata	p.E368K	ENST00000274773.7	37	c.1102	CCDS4462.1	5	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598214	0.28445	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	4.57	3.7	0.42460	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	1.048130	0.07540	N	0.913621	T	0.13670	0.0331	L	0.43923	1.385	0.21416	N	0.999695	B;B	0.21688	0.059;0.011	B;B	0.19391	0.025;0.0	T	0.39921	-0.9590	10	0.11182	T	0.66	.	12.1951	0.54292	0.0:0.1827:0.8173:0.0	.	368;186	Q9C029;Q9C029-4	TRIM7_HUMAN;.	K	368;160;160;186;160	ENSP00000274773:E368K;ENSP00000376991:E160K;ENSP00000355059:E160K;ENSP00000376994:E186K;ENSP00000391458:E160K	ENSP00000274773:E368K	E	-	1	0	TRIM7	180555206	0.000000	0.05858	0.601000	0.28877	0.207000	0.24258	-0.111000	0.10807	0.904000	0.36572	-0.333000	0.08304	GAG	TRIM7	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.667	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3	C	NM_203296		180622600	-1	no_errors	ENST00000274773	ensembl	human	known	70_37	missense	SNP	0.820	T
TRIP11	9321	genome.wustl.edu	37	14	92471878	92471878	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:92471878T>G	ENST00000267622.4	-	11	2815	c.2442A>C	c.(2440-2442)gaA>gaC	p.E814D		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	814					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CAATAAAAATTTCTTTCTTGT	0.313			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													67.0	73.0	71.0					14																	92471878		2203	4297	6500	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2442A>C	14.37:g.92471878T>G	ENSP00000267622:p.Glu814Asp		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.E814D	ENST00000267622.4	37	c.2442	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.163|3.163	-0.171756|-0.171756	0.06421|0.06421	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.04654|.	3.58|.	5.77|5.77	-3.27|-3.27	0.05048|0.05048	.|.	0.339283|.	0.34223|.	N|.	0.004156|.	T|T	0.23926|0.23926	0.0579|0.0579	L|L	0.39397|0.39397	1.21|1.21	0.26757|0.26757	N|N	0.970079|0.970079	B;B|.	0.13594|.	0.005;0.008|.	B;B|.	0.16722|.	0.009;0.016|.	T|T	0.33599|0.33599	-0.9862|-0.9862	10|5	0.15499|.	T|.	0.54|.	.|.	1.2708|1.2708	0.02020|0.02020	0.2953:0.359:0.1501:0.1956|0.2953:0.359:0.1501:0.1956	.|.	550;814|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	D|H	814;550|530	ENSP00000267622:E814D|.	ENSP00000267622:E814D|.	E|N	-|-	3|1	2|0	TRIP11|TRIP11	91541631|91541631	0.035000|0.035000	0.19736|0.19736	0.056000|0.056000	0.19401|0.19401	0.569000|0.569000	0.35902|0.35902	0.301000|0.301000	0.19174|0.19174	-0.157000|-0.157000	0.11059|0.11059	0.254000|0.254000	0.18369|0.18369	GAA|AAT	TRIP11	-	NULL		0.313	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	T			92471878	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	0.150	G
TRMT2B	79979	genome.wustl.edu	37	X	100276201	100276201	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100276201C>A	ENST00000372936.3	-	10	1727	c.955G>T	c.(955-957)Gat>Tat	p.D319Y	TRMT2B_ENST00000478422.1_5'Flank|TRMT2B_ENST00000338687.7_Missense_Mutation_p.D274Y|TRMT2B_ENST00000545398.1_Missense_Mutation_p.D319Y|TRMT2B_ENST00000372939.1_Missense_Mutation_p.D274Y|TRMT2B_ENST00000372935.1_Missense_Mutation_p.D319Y|TRMT2B_ENST00000372931.5_Missense_Mutation_p.D319Y	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	319						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						AAAAAGGCATCTGGAGAGATG	0.502																																																	0													116.0	101.0	106.0					X																	100276201		2203	4300	6503	SO:0001583	missense	79979			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.955G>T	X.37:g.100276201C>A	ENSP00000362027:p.Asp319Tyr		A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_Small_mtfrase_dom	p.D319Y	ENST00000372936.3	37	c.955	CCDS14477.1	X	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326374	0.60743	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.46819	0.87;0.86;0.87;0.86;0.86;0.86	4.86	4.86	0.63082	.	0.476696	0.23142	N	0.051455	T	0.57286	0.2043	L	0.61387	1.9	0.48341	D	0.999638	D;B;B	0.60575	0.988;0.315;0.167	P;B;B	0.58391	0.838;0.109;0.07	T	0.58200	-0.7678	10	0.48119	T	0.1	-5.8108	8.606	0.33773	0.0:0.8925:0.0:0.1075	.	274;319;319	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	Y	274;319;274;319;319;319	ENSP00000340970:D274Y;ENSP00000438134:D319Y;ENSP00000362030:D274Y;ENSP00000362026:D319Y;ENSP00000362027:D319Y;ENSP00000362022:D319Y	ENSP00000340970:D274Y	D	-	1	0	TRMT2B	100162857	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	4.708000	0.61859	2.155000	0.67459	0.600000	0.82982	GAT	TRMT2B	-	pfam_U5_MeTrfase		0.502	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TRMT2B	HGNC	protein_coding	OTTHUMT00000057512.1	C	NM_024917		100276201	-1	no_errors	ENST00000372935	ensembl	human	known	70_37	missense	SNP	0.973	A
TRO	7216	genome.wustl.edu	37	X	54950191	54950191	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:54950191G>T	ENST00000173898.7	+	3	1338	c.1226G>T	c.(1225-1227)aGa>aTa	p.R409I	TRO_ENST00000375022.4_Missense_Mutation_p.R409I|TRO_ENST00000420798.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.R409I|TRO_ENST00000484031.1_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	409					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CGGGGCAAAAGAAACCGAAAG	0.478																																																	0													33.0	43.0	40.0					X																	54950191		1896	4119	6015	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1226G>T	X.37:g.54950191G>T	ENSP00000173898:p.Arg409Ile		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R409I	ENST00000173898.7	37	c.1226	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677086	0.47886	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022	T;T;T	0.58940	0.3;0.3;0.3	2.7	1.83	0.25207	.	.	.	.	.	T	0.51736	0.1692	N	0.24115	0.695	0.80722	D	1	P;D	0.69078	0.948;0.997	P;P	0.60789	0.494;0.879	T	0.45293	-0.9271	8	.	.	.	.	4.9715	0.14117	0.1786:0.0:0.8214:0.0	.	409;409	Q96SX2;Q12816	.;TROP_HUMAN	I	409	ENSP00000173898:R409I;ENSP00000318278:R409I;ENSP00000364162:R409I	.	R	+	2	0	TRO	54966916	0.991000	0.36638	0.997000	0.53966	0.880000	0.50808	0.499000	0.22546	0.539000	0.28788	0.509000	0.49947	AGA	TRO	-	NULL		0.478	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	G	NM_016157		54950191	+1	no_errors	ENST00000173898	ensembl	human	known	70_37	missense	SNP	0.996	T
TRMT2B	79979	genome.wustl.edu	37	X	100297126	100297126	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:100297126A>C	ENST00000372936.3	-	3	925	c.153T>G	c.(151-153)gaT>gaG	p.D51E	TRMT2B-AS1_ENST00000443801.2_RNA|TRMT2B_ENST00000478422.1_Intron|TRMT2B_ENST00000338687.7_Missense_Mutation_p.D51E|TRMT2B_ENST00000545398.1_Missense_Mutation_p.D51E|TRMT2B_ENST00000372939.1_Missense_Mutation_p.D51E|TRMT2B_ENST00000372935.1_Missense_Mutation_p.D51E|TRMT2B_ENST00000372931.5_Missense_Mutation_p.D51E	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	51						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CACGGGTGAAATCTCCCTTAC	0.488																																																	0													142.0	119.0	127.0					X																	100297126		2203	4300	6503	SO:0001583	missense	79979			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.153T>G	X.37:g.100297126A>C	ENSP00000362027:p.Asp51Glu		A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_Small_mtfrase_dom	p.D51E	ENST00000372936.3	37	c.153	CCDS14477.1	X	.	.	.	.	.	.	.	.	.	.	A	6.844	0.524968	0.13066	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	4.71	2.08	0.27032	.	0.859986	0.10293	N	0.692151	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B;B;B	0.19073	0.009;0.033;0.005	B;B;B	0.14023	0.01;0.005;0.005	T	0.32929	-0.9888	10	0.02654	T	1	-3.7533	2.6156	0.04902	0.5449:0.2753:0.1799:0.0	.	51;51;51	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	E	51	ENSP00000340970:D51E;ENSP00000438134:D51E;ENSP00000362030:D51E;ENSP00000362026:D51E;ENSP00000362027:D51E;ENSP00000362022:D51E	ENSP00000340970:D51E	D	-	3	2	TRMT2B	100183782	0.982000	0.34865	0.178000	0.23040	0.023000	0.10783	0.837000	0.27558	0.676000	0.31285	0.417000	0.27973	GAT	TRMT2B	-	NULL		0.488	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TRMT2B	HGNC	protein_coding	OTTHUMT00000057512.1	A	NM_024917		100297126	-1	no_errors	ENST00000372935	ensembl	human	known	70_37	missense	SNP	0.228	C
TROVE2	6738	genome.wustl.edu	37	1	193054185	193054185	+	3'UTR	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:193054185T>C	ENST00000367446.3	+	0	2151				TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000432079.1_3'UTR|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000367444.3_Intron	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2						cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GAGCAAAAAGTGTAATTCCAC	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.*324T>C	1.37:g.193054185T>C			B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	RNA	SNP	-	NULL	ENST00000367446.3	37	NULL	CCDS1379.1	1																																																																																			TROVE2	-	-		0.323	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	T	NM_004600		193054185	+1	no_errors	ENST00000460715	ensembl	human	known	70_37	rna	SNP	0.046	C
TRPC1	7220	genome.wustl.edu	37	3	142522890	142522890	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:142522890G>T	ENST00000476941.1	+	11	2315	c.1829G>T	c.(1828-1830)aGa>aTa	p.R610I	TRPC1_ENST00000273482.6_Missense_Mutation_p.R576I|RNU7-47P_ENST00000515978.1_RNA	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	610					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTTGTCACAAGATTTAGCTAT	0.418																																																	0													148.0	132.0	137.0					3																	142522890		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1829G>T	3.37:g.142522890G>T	ENSP00000419313:p.Arg610Ile		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.R610I	ENST00000476941.1	37	c.1829	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538686	0.65085	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98221	-4.8;-4.8	5.33	5.33	0.75918	Ion transport (1);	0.056774	0.64402	D	0.000004	D	0.95364	0.8495	L	0.29908	0.895	0.80722	D	1	B;B;B	0.28470	0.095;0.213;0.007	B;B;B	0.24701	0.038;0.055;0.009	D	0.93598	0.6927	10	0.42905	T	0.14	-1.5586	14.266	0.66118	0.0:0.0:0.8511:0.1489	.	576;610;576	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	I	610;576;129	ENSP00000419313:R610I;ENSP00000273482:R576I	ENSP00000273482:R576I	R	+	2	0	TRPC1	144005580	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	9.546000	0.98097	2.654000	0.90174	0.650000	0.86243	AGA	TRPC1	-	pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel		0.418	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	G	NM_003304		142522890	+1	no_errors	ENST00000476941	ensembl	human	known	70_37	missense	SNP	0.721	T
TRPC6	7225	genome.wustl.edu	37	11	101323781	101323781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:101323781C>A	ENST00000344327.3	-	13	3125	c.2701G>T	c.(2701-2703)Gaa>Taa	p.E901*	TRPC6_ENST00000348423.4_Nonsense_Mutation_p.E785*|TRPC6_ENST00000532133.1_Nonsense_Mutation_p.E823*|TRPC6_ENST00000360497.4_Nonsense_Mutation_p.E846*	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	901					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGAGATTTTTCTTCAAGGAGT	0.373																																					Colon(166;1315 1927 11094 12848 34731)												0													165.0	161.0	163.0					11																	101323781		2203	4300	6503	SO:0001587	stop_gained	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2701G>T	11.37:g.101323781C>A	ENSP00000340913:p.Glu901*		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.E901*	ENST00000344327.3	37	c.2701	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.421323	0.98272	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	.	.	.	5.65	5.65	0.86999	.	0.282320	0.41097	D	0.000944	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-17.2591	19.7968	0.96490	0.0:1.0:0.0:0.0	.	.	.	.	X	901;823;785;846	.	ENSP00000340913:E901X	E	-	1	0	TRPC6	100828991	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.720000	0.61944	2.679000	0.91253	0.650000	0.86243	GAA	TRPC6	-	NULL		0.373	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	C	NM_004621		101323781	-1	no_errors	ENST00000344327	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TRPC6	7225	genome.wustl.edu	37	11	101342954	101342954	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:101342954G>T	ENST00000344327.3	-	8	2543	c.2119C>A	c.(2119-2121)Ctt>Att	p.L707I	TRPC6_ENST00000348423.4_Missense_Mutation_p.L591I|TRPC6_ENST00000532133.1_Missense_Mutation_p.L629I|TRPC6_ENST00000360497.4_Missense_Mutation_p.L652I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	707					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACTCCATAAAGAACGTAACCA	0.333																																					Colon(166;1315 1927 11094 12848 34731)												0													89.0	90.0	90.0					11																	101342954		2203	4298	6501	SO:0001583	missense	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2119C>A	11.37:g.101342954G>T	ENSP00000340913:p.Leu707Ile		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.L707I	ENST00000344327.3	37	c.2119	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575058	0.86542	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	5.81	5.81	0.92471	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.67517	2.055	0.80722	D	1	D;D;D	0.63880	0.991;0.991;0.993	D;D;D	0.71184	0.967;0.935;0.972	D	0.98686	1.0694	10	0.37606	T	0.19	-3.0827	20.0784	0.97758	0.0:0.0:1.0:0.0	.	652;591;707	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	I	707;629;591;652	ENSP00000340913:L707I;ENSP00000435574:L629I;ENSP00000343672:L591I;ENSP00000353687:L652I	ENSP00000340913:L707I	L	-	1	0	TRPC6	100848164	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.034000	0.88864	2.736000	0.93811	0.655000	0.94253	CTT	TRPC6	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel		0.333	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	G	NM_004621		101342954	-1	no_errors	ENST00000344327	ensembl	human	known	70_37	missense	SNP	1.000	T
TRPM1	4308	genome.wustl.edu	37	15	31332543	31332543	+	Silent	SNP	G	G	A	rs376395058		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:31332543G>A	ENST00000256552.6	-	18	2241	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	TRPM1_ENST00000397795.2_Silent_p.F676F|TRPM1_ENST00000542188.1_Silent_p.F715F|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAAGCTGGCCGAAGTCTCTGG	0.522																																																	0													52.0	51.0	51.0					15																	31332543		1992	4178	6170	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2094C>T	15.37:g.31332543G>A				Silent	SNP	pfam_Ion_trans_dom	p.F715	ENST00000256552.6	37	c.2145	CCDS58346.1	15																																																																																			TRPM1	-	NULL		0.522	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31332543	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	silent	SNP	0.998	A
TRPM2	7226	genome.wustl.edu	37	21	45798886	45798886	+	Missense_Mutation	SNP	G	G	T	rs375889293		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:45798886G>T	ENST00000397928.1	+	8	1466	c.1021G>T	c.(1021-1023)Gac>Tac	p.D341Y	TRPM2_ENST00000300482.5_Missense_Mutation_p.D341Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.D341Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.D341Y	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	341					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCAGACCATCGACAACGCCAC	0.637																																																	0													63.0	57.0	59.0					21																	45798886		2203	4300	6503	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1021G>T	21.37:g.45798886G>T	ENSP00000381023:p.Asp341Tyr		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.D341Y	ENST00000397928.1	37	c.1021	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	T	0.060	-1.226250	0.01518	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	3.84	2.69	0.31865	.	0.320727	0.30252	N	0.010054	T	0.02848	0.0085	N	0.00272	-1.73	0.19575	N	0.999961	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43458	-0.9390	10	0.02654	T	1	-22.134	6.4523	0.21910	0.0:0.084:0.1577:0.7584	.	341;341	E9PGK7;O94759	.;TRPM2_HUMAN	Y	341	ENSP00000300482:D341Y;ENSP00000381023:D341Y;ENSP00000300481:D341Y;ENSP00000381026:D341Y	ENSP00000300481:D341Y	D	+	1	0	TRPM2	44623314	1.000000	0.71417	0.998000	0.56505	0.341000	0.28922	3.800000	0.55537	0.115000	0.18071	-0.362000	0.07510	GAC	TRPM2	-	NULL		0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	G	NM_003307		45798886	+1	no_errors	ENST00000300482	ensembl	human	known	70_37	missense	SNP	1.000	T
TRPM3	80036	genome.wustl.edu	37	9	73461494	73461494	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:73461494G>T	ENST00000377111.2	-	4	719	c.476C>A	c.(475-477)tCt>tAt	p.S159Y	TRPM3_ENST00000377110.3_Missense_Mutation_p.S159Y|TRPM3_ENST00000377105.1_Missense_Mutation_p.S6Y|TRPM3_ENST00000408909.2_Missense_Mutation_p.S6Y|TRPM3_ENST00000396285.1_Missense_Mutation_p.S6Y|TRPM3_ENST00000360823.2_Missense_Mutation_p.S6Y|TRPM3_ENST00000396280.5_Missense_Mutation_p.S6Y|TRPM3_ENST00000377097.3_Missense_Mutation_p.S6Y|TRPM3_ENST00000396283.1_Missense_Mutation_p.S6Y|TRPM3_ENST00000361823.5_Missense_Mutation_p.S6Y|TRPM3_ENST00000377101.1_Missense_Mutation_p.S6Y|TRPM3_ENST00000357533.2_Missense_Mutation_p.S161Y|TRPM3_ENST00000358082.3_Missense_Mutation_p.S6Y|TRPM3_ENST00000396292.4_Missense_Mutation_p.S6Y|TRPM3_ENST00000423814.3_Missense_Mutation_p.S161Y|TRPM3_ENST00000377106.1_Missense_Mutation_p.S6Y	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	159					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGTATCAAAAGATACTCGCAC	0.458																																																	0													75.0	70.0	72.0					9																	73461494		2203	4300	6503	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.476C>A	9.37:g.73461494G>T	ENSP00000366315:p.Ser159Tyr		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.S161Y	ENST00000377111.2	37	c.482		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.805250|4.805250	0.90623|0.90623	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377097|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.06218	.|3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37404|0.37404	0.1002|0.1002	M|M	0.92833|0.92833	3.35|3.35	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|0.972;0.999;0.997;0.998;0.999;0.997;1.0;0.998;0.997	.|P;D;D;D;D;D;D;D;D	.|0.80764	.|0.832;0.981;0.94;0.967;0.94;0.994;0.971;0.928;0.994	T|T	0.40421|0.40421	-0.9564|-0.9564	5|10	.|0.87932	.|D	.|0	-3.2715|-3.2715	20.5211|20.5211	0.99222|0.99222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|159;161;6;159;159;159;161;6;6	.|Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.	I|Y	49|159;159;6;6;6;161;6;6;6;6;161;6;6;6;6	.|ENSP00000366315:S159Y;ENSP00000366314:S159Y;ENSP00000366310:S6Y;ENSP00000354066:S6Y;ENSP00000366309:S6Y;ENSP00000350140:S161Y;ENSP00000386127:S6Y;ENSP00000379581:S6Y;ENSP00000379587:S6Y;ENSP00000350791:S6Y;ENSP00000389542:S161Y;ENSP00000366305:S6Y;ENSP00000379579:S6Y;ENSP00000355395:S6Y	.|ENSP00000350140:S161Y	L|S	-|-	1|2	0|0	TRPM3|TRPM3	72651314|72651314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.767000|9.767000	0.98960|0.98960	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	CTT|TCT	TRPM3	-	NULL		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	G	NM_206945		73461494	-1	no_errors	ENST00000423814	ensembl	human	known	70_37	missense	SNP	1.000	T
TRPM8	79054	genome.wustl.edu	37	2	234869596	234869596	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:234869596G>A	ENST00000324695.4	+	12	1579	c.1539G>A	c.(1537-1539)aaG>aaA	p.K513K	TRPM8_ENST00000433712.2_Silent_p.K201K	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	513					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.K513N(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGATCGCCAAGAATTCCTATA	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											115.0	98.0	103.0					2																	234869596		2203	4300	6503	SO:0001819	synonymous_variant	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1539G>A	2.37:g.234869596G>A			A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	pfam_Ion_trans_dom	p.K513	ENST00000324695.4	37	c.1539	CCDS33407.1	2																																																																																			TRPM8	-	NULL		0.507	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	G	NM_024080		234869596	+1	no_errors	ENST00000324695	ensembl	human	known	70_37	silent	SNP	1.000	A
TRPV2	51393	genome.wustl.edu	37	17	16336993	16336993	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:16336993G>A	ENST00000338560.7	+	13	2494	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	TRPV2_ENST00000577397.1_Missense_Mutation_p.D269N	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	699					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGGCAGCCCCGATGAGCGCTG	0.622																																																	0													107.0	94.0	99.0					17																	16336993		2203	4300	6503	SO:0001583	missense	51393			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2095G>A	17.37:g.16336993G>A	ENSP00000342222:p.Asp699Asn		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.D699N	ENST00000338560.7	37	c.2095	CCDS32576.1	17	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061858	0.55432	.	.	ENSG00000187688	ENST00000338560	D	0.89810	-2.57	5.79	5.79	0.91817	.	0.089600	0.85682	D	0.000000	D	0.92267	0.7547	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	P	0.61477	0.889	D	0.91890	0.5523	10	0.51188	T	0.08	-22.2117	17.5351	0.87827	0.0:0.0:1.0:0.0	.	699	Q9Y5S1	TRPV2_HUMAN	N	699	ENSP00000342222:D699N	ENSP00000342222:D699N	D	+	1	0	TRPV2	16277718	1.000000	0.71417	0.979000	0.43373	0.834000	0.47266	8.958000	0.93099	2.751000	0.94390	0.650000	0.86243	GAT	TRPV2	-	prints_TRPV1-4_channel,tigrfam_TRP_channel		0.622	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	G	NM_016113		16336993	+1	no_errors	ENST00000338560	ensembl	human	known	70_37	missense	SNP	1.000	A
TSEN15	116461	genome.wustl.edu	37	1	184023932	184023932	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:184023932G>T	ENST00000361641.1	+	3	367	c.288G>T	c.(286-288)gaG>gaT	p.E96D	TSEN15_ENST00000423085.2_Missense_Mutation_p.E96D|TSEN15_ENST00000533373.1_Missense_Mutation_p.E96D	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	96					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)	tRNA-intron endonuclease activity (GO:0000213)			breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						TTGGTACTGAGATAGAAGGGG	0.478																																																	0													64.0	58.0	60.0					1																	184023932		2203	4300	6503	SO:0001583	missense	116461			AF288394	CCDS1361.1, CCDS44286.1, CCDS72993.1	1q25	2013-08-06	2013-08-06	2008-06-12	ENSG00000198860	ENSG00000198860		"""tRNA splicing endonuclease subunits"""	16791	protein-coding gene	gene with protein product		608756	"""chromosome 1 open reading frame 19"", ""tRNA splicing endonuclease 15 homolog (S. cerevisiae)"""	C1orf19		11318611, 17166513	Standard	XM_006711148		Approved		uc001gqt.4	Q8WW01	OTTHUMG00000035461	ENST00000361641.1:c.288G>T	1.37:g.184023932G>T	ENSP00000355299:p.Glu96Asp		B4DKP0|Q9BZQ5	Missense_Mutation	SNP	pfam_tRNA-endonuc_su_Sen15	p.E96D	ENST00000361641.1	37	c.288	CCDS1361.1	1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832968	0.71258	.	.	ENSG00000198860	ENST00000361641;ENST00000533373;ENST00000423085	T;T;T	0.47528	0.84;0.84;0.84	5.27	2.42	0.29668	tRNA-intron endonuclease, Sen15 domain (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	L	0.59436	1.845	0.44579	D	0.997543	D;P	0.69078	0.997;0.948	D;D	0.79108	0.992;0.917	T	0.51521	-0.8695	10	0.33141	T	0.24	-20.4947	7.413	0.27027	0.265:0.0:0.735:0.0	.	96;96	B4DKP0;Q8WW01	.;SEN15_HUMAN	D	96	ENSP00000355299:E96D;ENSP00000436996:E96D;ENSP00000402002:E96D	ENSP00000355299:E96D	E	+	3	2	TSEN15	182290555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.343000	0.44001	0.376000	0.24707	0.650000	0.86243	GAG	TSEN15	-	pfam_tRNA-endonuc_su_Sen15		0.478	TSEN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN15	HGNC	protein_coding	OTTHUMT00000086132.1	G			184023932	+1	no_errors	ENST00000361641	ensembl	human	known	70_37	missense	SNP	0.998	T
TSFM	10102	genome.wustl.edu	37	12	58179958	58179958	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:58179958C>T	ENST00000550559.1	+	3	259	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	TSFM_ENST00000548851.1_Missense_Mutation_p.L82F|TSFM_ENST00000454289.3_Missense_Mutation_p.L82F|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000350762.5_Missense_Mutation_p.L42F|RP11-571M6.15_ENST00000553083.1_3'UTR|RP11-571M6.15_ENST00000471530.1_3'UTR|TSFM_ENST00000543727.1_Missense_Mutation_p.L82F|TSFM_ENST00000540550.1_Missense_Mutation_p.L82F|TSFM_ENST00000323833.8_Missense_Mutation_p.L82F					Ts translation elongation factor, mitochondrial											endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGAGATCTGGCTCCACAAGGA	0.473																																																	0													54.0	51.0	52.0					12																	58179958		2203	4299	6502	SO:0001583	missense	10102			L37936	CCDS8958.2, CCDS53809.1, CCDS53810.1, CCDS53811.1	12q14.1	2006-06-10			ENSG00000123297	ENSG00000123297			12367	protein-coding gene	gene with protein product		604723				7615523	Standard	NM_005726		Approved	EF-Tsmt, EF-TS	uc001sqh.3	P43897	OTTHUMG00000153042	ENST00000550559.1:c.244C>T	12.37:g.58179958C>T	ENSP00000448575:p.Leu82Phe			Missense_Mutation	SNP	pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/transl_elong_EF1B_N	p.L82F	ENST00000550559.1	37	c.244		12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531161	0.85706	.	.	ENSG00000257921;ENSG00000123297;ENSG00000123297;ENSG00000123297;ENSG00000123297;ENSG00000123297;ENSG00000123297;ENSG00000123297;ENSG00000123297;ENSG00000123297	ENST00000546504;ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000350762;ENST00000550559;ENST00000548851;ENST00000434359;ENST00000457189	.	.	.	5.29	5.29	0.74685	UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.90096	0.6906	H	0.97291	3.975	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.93219	0.6607	9	0.87932	D	0	.	17.859	0.88775	0.0:1.0:0.0:0.0	.	82;42;82;82	B4E391;F8W6R3;P43897;P43897-2	.;.;EFTS_HUMAN;.	F	101;82;82;82;82;42;82;82;32;32	.	ENSP00000449544:L101F	L	+	1	0	RP11-571M6.15;TSFM	56466225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.946000	0.56644	2.741000	0.93983	0.655000	0.94253	CTC	TSFM	-	NULL		0.473	TSFM-008	PUTATIVE	basic|exp_conf	protein_coding	TSFM	HGNC	protein_coding	OTTHUMT00000409343.1	C	NM_005726		58179958	+1	no_errors	ENST00000323833	ensembl	human	known	70_37	missense	SNP	1.000	T
TSHZ2	128553	genome.wustl.edu	37	20	51871025	51871025	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:51871025C>A	ENST00000371497.5	+	2	1915	c.1028C>A	c.(1027-1029)tCt>tAt	p.S343Y	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S340Y|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S340Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	343					multicellular organismal development (GO:0007275)|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(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTTGCAGATTCTTTTTCTTCT	0.498																																																	0													78.0	86.0	84.0					20																	51871025		2203	4300	6503	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1028C>A	20.37:g.51871025C>A	ENSP00000360552:p.Ser343Tyr		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.S343Y	ENST00000371497.5	37	c.1028	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	C	3.668	-0.068165	0.07228	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.15834	2.4;2.39	5.56	5.56	0.83823	.	0.414066	0.27198	N	0.020480	T	0.08980	0.0222	N	0.03154	-0.405	0.29073	N	0.883195	B	0.02656	0.0	B	0.01281	0.0	T	0.12451	-1.0547	10	0.40728	T	0.16	-4.1475	14.3683	0.66820	0.1479:0.8521:0.0:0.0	.	343	Q9NRE2	TSH2_HUMAN	Y	343;340	ENSP00000360552:S343Y;ENSP00000333114:S340Y	ENSP00000333114:S340Y	S	+	2	0	TSHZ2	51304432	0.058000	0.20735	0.246000	0.24233	0.076000	0.17211	3.546000	0.53656	2.617000	0.88574	0.643000	0.83706	TCT	TSHZ2	-	NULL		0.498	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	C	NM_173485		51871025	+1	no_errors	ENST00000371497	ensembl	human	known	70_37	missense	SNP	0.449	A
TSPAN13	27075	genome.wustl.edu	37	7	16816705	16816705	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:16816705T>G	ENST00000262067.4	+	3	703	c.270T>G	c.(268-270)ttT>ttG	p.F90L	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	90						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		TTGTTCAGTTTTCTGTATCTT	0.323																																																	0													122.0	115.0	118.0					7																	16816705		2203	4300	6503	SO:0001583	missense	27075			AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"""Tetraspanins"""	21643	protein-coding gene	gene with protein product		613139	"""transmembrane 4 superfamily member 13"""	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.270T>G	7.37:g.16816705T>G	ENSP00000262067:p.Phe90Leu			Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.F90L	ENST00000262067.4	37	c.270	CCDS5363.1	7	.	.	.	.	.	.	.	.	.	.	T	15.34	2.804808	0.50315	.	.	ENSG00000106537	ENST00000262067	T	0.74002	-0.8	5.61	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	L	0.39692	1.235	0.51233	D	0.999919	B	0.16603	0.018	B	0.20184	0.028	T	0.45600	-0.9250	10	0.05351	T	0.99	-11.3937	7.598	0.28058	0.1262:0.0685:0.0:0.8053	.	90	O95857	TSN13_HUMAN	L	90	ENSP00000262067:F90L	ENSP00000262067:F90L	F	+	3	2	TSPAN13	16783230	0.975000	0.34042	1.000000	0.80357	0.979000	0.70002	0.073000	0.14640	0.392000	0.25172	0.459000	0.35465	TTT	TSPAN13	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin		0.323	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN13	HGNC	protein_coding	OTTHUMT00000250178.2	T	NM_014399		16816705	+1	no_errors	ENST00000262067	ensembl	human	known	70_37	missense	SNP	1.000	G
TSPAN19	144448	genome.wustl.edu	37	12	85411359	85411359	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:85411359T>C	ENST00000532498.2	-	7	550	c.470A>G	c.(469-471)cAt>cGt	p.H157R	TSPAN19_ENST00000547403.2_5'UTR	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	157						integral component of membrane (GO:0016021)				ovary(1)	1						TGTGTAATTATGTTGGCCACA	0.308																																																	0													57.0	51.0	53.0					12																	85411359		1817	4078	5895	SO:0001583	missense	144448				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.470A>G	12.37:g.85411359T>C	ENSP00000433816:p.His157Arg			Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.H157R	ENST00000532498.2	37	c.470	CCDS44949.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.708|2.708	-0.269531|-0.269531	0.05716|0.05716	.|.	.|.	ENSG00000231738|ENSG00000231738	ENST00000532498|ENST00000525452	T|.	0.78924|.	-1.22|.	4.77|4.77	2.49|2.49	0.30216|0.30216	Tetraspanin, EC2 domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.19604|0.19604	0.0471|0.0471	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.20261|.	0.043|.	B|.	0.23018|.	0.043|.	T|T	0.19712|0.19712	-1.0297|-1.0297	9|5	0.12766|.	T|.	0.61|.	.|.	5.167|5.167	0.15090|0.15090	0.0:0.2331:0.0:0.7669|0.0:0.2331:0.0:0.7669	.|.	157|.	P0C672|.	TSN19_HUMAN|.	R|V	157|6	ENSP00000433816:H157R|.	ENSP00000433816:H157R|.	H|I	-|-	2|1	0|0	TSPAN19|TSPAN19	83935490|83935490	0.890000|0.890000	0.30428|0.30428	0.038000|0.038000	0.18304|0.18304	0.497000|0.497000	0.33675|0.33675	0.825000|0.825000	0.27393|0.27393	0.955000|0.955000	0.37878|0.37878	0.524000|0.524000	0.50904|0.50904	CAT|ATA	TSPAN19	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.308	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN19	HGNC	protein_coding	OTTHUMT00000388240.2	T	NM_001100917		85411359	-1	no_errors	ENST00000532498	ensembl	human	known	70_37	missense	SNP	0.028	C
TSPYL4	23270	genome.wustl.edu	37	6	116574447	116574447	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:116574447C>T	ENST00000420283.1	-	1	814	c.725G>A	c.(724-726)cGc>cAc	p.R242H	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	242					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.R242H(1)		endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GAAACTTCTGCGCTGCATGTG	0.517																																																	1	Substitution - Missense(1)	large_intestine(1)											34.0	35.0	35.0					6																	116574447		1975	4180	6155	SO:0001583	missense	23270				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.725G>A	6.37:g.116574447C>T	ENSP00000410943:p.Arg242His		B4DYQ2|O94828|Q96GW8	Missense_Mutation	SNP	pfam_NAP_family	p.R242H	ENST00000420283.1	37	c.725	CCDS5106.1	6	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301886	0.81136	.	.	ENSG00000187189	ENST00000420283	T	0.27104	1.69	3.98	3.98	0.46160	.	.	.	.	.	T	0.32255	0.0823	M	0.79475	2.455	0.32472	N	0.542668	D	0.56968	0.978	P	0.59643	0.861	T	0.16630	-1.0396	9	0.52906	T	0.07	-10.2817	7.7625	0.28961	0.0:0.8905:0.0:0.1095	.	242	Q9UJ04	TSYL4_HUMAN	H	242	ENSP00000410943:R242H	ENSP00000410943:R242H	R	-	2	0	TSPYL4	116681140	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.321000	0.33678	2.514000	0.84764	0.462000	0.41574	CGC	TSPYL4	-	pfam_NAP_family		0.517	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2	C			116574447	-1	no_errors	ENST00000420283	ensembl	human	known	70_37	missense	SNP	0.998	T
TTBK2	146057	genome.wustl.edu	37	15	43069311	43069311	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:43069311A>C	ENST00000267890.6	-	12	1435	c.1327T>G	c.(1327-1329)Tta>Gta	p.L443V	TTBK2_ENST00000567274.1_Missense_Mutation_p.L408V|TTBK2_ENST00000567840.1_Missense_Mutation_p.L443V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	443					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ATGGAACGTAACTTTCGCACC	0.473																																																	0													90.0	89.0	89.0					15																	43069311		1936	4140	6076	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1327T>G	15.37:g.43069311A>C	ENSP00000267890:p.Leu443Val		O94932|Q6ZN52|Q8IVV1	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.L443V	ENST00000267890.6	37	c.1327	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152674	0.57259	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.52983	0.64	5.75	3.35	0.38373	.	0.072323	0.53938	D	0.000043	T	0.58552	0.2130	L	0.55481	1.735	0.53005	D	0.999962	B;D;P;D	0.64830	0.243;0.994;0.749;0.99	B;D;B;P	0.64321	0.054;0.924;0.228;0.841	T	0.60561	-0.7239	10	0.87932	D	0	.	10.4609	0.44578	0.8071:0.0:0.1929:0.0	.	848;374;443;443	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	V	443;373;848	ENSP00000267890:L443V	ENSP00000263802:L848V	L	-	1	2	TTBK2	40856603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.653000	0.37323	0.962000	0.38057	0.533000	0.62120	TTA	TTBK2	-	NULL		0.473	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	A	NM_173500		43069311	-1	no_errors	ENST00000267890	ensembl	human	known	70_37	missense	SNP	1.000	C
TTC21A	199223	genome.wustl.edu	37	3	39159650	39159650	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:39159650T>C	ENST00000431162.2	+	7	941	c.807T>C	c.(805-807)agT>agC	p.S269S	TTC21A_ENST00000440121.1_Intron|TTC21A_ENST00000301819.6_Silent_p.S269S			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	269										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCACAGTAAGTTCTTTGAAGA	0.458																																																	0													129.0	125.0	126.0					3																	39159650		1937	4165	6102	SO:0001819	synonymous_variant	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.807T>C	3.37:g.39159650T>C			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S269	ENST00000431162.2	37	c.807	CCDS46800.1	3																																																																																			TTC21A	-	NULL		0.458	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	T	NM_145755		39159650	+1	no_errors	ENST00000301819	ensembl	human	known	70_37	silent	SNP	0.935	C
TTC21A	199223	genome.wustl.edu	37	3	39159652	39159652	+	Missense_Mutation	SNP	C	C	A	rs373627662		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:39159652C>A	ENST00000431162.2	+	7	943	c.809C>A	c.(808-810)tCt>tAt	p.S270Y	TTC21A_ENST00000440121.1_Intron|TTC21A_ENST00000301819.6_Missense_Mutation_p.S270Y			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	270								p.S270Y(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACAGTAAGTTCTTTGAAGACT	0.458																																																	2	Substitution - Missense(2)	large_intestine(2)											127.0	123.0	124.0					3																	39159652		1935	4165	6100	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.809C>A	3.37:g.39159652C>A	ENSP00000398211:p.Ser270Tyr		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S270Y	ENST00000431162.2	37	c.809	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	C	8.420	0.846160	0.16963	.	.	ENSG00000168026	ENST00000301819;ENST00000431162	T;T	0.58940	0.3;0.3	4.77	0.696	0.18075	.	0.637751	0.13895	N	0.355340	T	0.27594	0.0678	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.21793	-1.0235	10	0.07325	T	0.83	.	5.2219	0.15373	0.1242:0.5492:0.2423:0.0843	.	270;270	Q8NDW8-7;Q8NDW8	.;TT21A_HUMAN	Y	270	ENSP00000301819:S270Y;ENSP00000398211:S270Y	ENSP00000301819:S270Y	S	+	2	0	TTC21A	39134656	0.000000	0.05858	0.055000	0.19348	0.027000	0.11550	0.005000	0.13129	-0.111000	0.12001	-1.150000	0.01838	TCT	TTC21A	-	NULL		0.458	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	C	NM_145755		39159652	+1	no_errors	ENST00000301819	ensembl	human	known	70_37	missense	SNP	0.077	A
TTC21A	199223	genome.wustl.edu	37	3	39161495	39161495	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:39161495T>G	ENST00000431162.2	+	8	1042	c.908T>G	c.(907-909)aTt>aGt	p.I303S	TTC21A_ENST00000440121.1_Missense_Mutation_p.I254S|TTC21A_ENST00000301819.6_Missense_Mutation_p.I303S			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	303										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAAAAAATTATTGTGGTTAGC	0.458																																																	0													73.0	79.0	77.0					3																	39161495		1840	4087	5927	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.908T>G	3.37:g.39161495T>G	ENSP00000398211:p.Ile303Ser		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I303S	ENST00000431162.2	37	c.908	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	T	12.21	1.868514	0.32977	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.34275	1.37;1.37;1.37	5.67	3.1	0.35709	.	0.831564	0.10670	N	0.647614	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B;B;B	0.25105	0.118;0.019;0.011	B;B;B	0.26517	0.07;0.031;0.014	T	0.22034	-1.0228	10	0.08381	T	0.77	-1.3721	7.721	0.28731	0.0:0.0758:0.1396:0.7846	.	254;303;303	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	S	303;295;303;254	ENSP00000301819:I303S;ENSP00000398211:I303S;ENSP00000410882:I254S	ENSP00000301819:I303S	I	+	2	0	TTC21A	39136499	0.005000	0.15991	0.091000	0.20842	0.994000	0.84299	1.516000	0.35856	2.164000	0.68074	0.533000	0.62120	ATT	TTC21A	-	NULL		0.458	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	T	NM_145755		39161495	+1	no_errors	ENST00000301819	ensembl	human	known	70_37	missense	SNP	0.001	G
TTC28	23331	genome.wustl.edu	37	22	28426232	28426232	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:28426232C>T	ENST00000397906.2	-	13	4196	c.4055G>A	c.(4054-4056)cGc>cAc	p.R1352H		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1352					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CAGGTTATTGCGGCGAACCAT	0.532																																																	0													188.0	147.0	159.0					22																	28426232		692	1591	2283	SO:0001583	missense	23331			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.4055G>A	22.37:g.28426232C>T	ENSP00000381003:p.Arg1352His		K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R1352H	ENST00000397906.2	37	c.4055	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315957	0.60524	.	.	ENSG00000100154	ENST00000397906;ENST00000442232	D	0.91068	-2.78	4.8	3.77	0.43336	.	0.394153	0.23098	N	0.051948	D	0.83083	0.5177	N	0.24115	0.695	0.53688	D	0.999974	B	0.24721	0.11	B	0.22601	0.04	T	0.78565	-0.2155	10	0.40728	T	0.16	-15.0629	11.5448	0.50688	0.0:0.9118:0.0:0.0882	.	1352	Q96AY4	TTC28_HUMAN	H	1352;60	ENSP00000381003:R1352H	ENSP00000381003:R1352H	R	-	2	0	TTC28	26756232	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.416000	0.66417	1.146000	0.42352	0.655000	0.94253	CGC	TTC28	-	NULL		0.532	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	C	XM_929318		28426232	-1	no_errors	ENST00000397906	ensembl	human	novel	70_37	missense	SNP	1.000	T
TTC3	7267	genome.wustl.edu	37	21	38512877	38512877	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:38512877A>G	ENST00000399017.2	+	20	4423	c.1676A>G	c.(1675-1677)gAa>gGa	p.E559G	TTC3_ENST00000354749.2_Missense_Mutation_p.E559G|TTC3_ENST00000355666.1_Missense_Mutation_p.E559G|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.E249G	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	559					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCTGAAGCCGAAAACCAGTTT	0.323																																					Ovarian(38;194 1649 35661)												0													143.0	144.0	144.0					21																	38512877		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1676A>G	21.37:g.38512877A>G	ENSP00000381981:p.Glu559Gly		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.E559G	ENST00000399017.2	37	c.1676	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333776	0.81801	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.17	5.17	0.71159	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.234516	0.32134	N	0.006524	T	0.80706	0.4674	N	0.24115	0.695	0.44268	D	0.997122	D;D	0.76494	0.997;0.999	D;D	0.80764	0.916;0.994	D	0.83420	0.0032	10	0.66056	D	0.02	-31.9832	14.9543	0.71101	1.0:0.0:0.0:0.0	.	249;559	B4DSZ9;P53804	.;TTC3_HUMAN	G	559;559;541;559;249;559;559	ENSP00000403943:E559G;ENSP00000408456:E559G;ENSP00000391891:E541G;ENSP00000347889:E559G;ENSP00000442875:E249G;ENSP00000381981:E559G;ENSP00000346791:E559G	ENSP00000346791:E559G	E	+	2	0	TTC3	37434747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.263000	0.65507	2.070000	0.61991	0.528000	0.53228	GAA	TTC3	-	pfscan_TPR-contain_dom		0.323	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	A			38512877	+1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	1.000	G
TTF2	8458	genome.wustl.edu	37	1	117620614	117620614	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:117620614T>C	ENST00000369466.4	+	8	1694	c.1650T>C	c.(1648-1650)ctT>ctC	p.L550L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	550					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ATCGCTCACTTGAGTCATGTC	0.517																																																	0													198.0	154.0	169.0					1																	117620614		2203	4300	6503	SO:0001819	synonymous_variant	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1650T>C	1.37:g.117620614T>C			A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L550	ENST00000369466.4	37	c.1650	CCDS892.1	1																																																																																			TTF2	-	NULL		0.517	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	T			117620614	+1	no_errors	ENST00000369466	ensembl	human	known	70_37	silent	SNP	0.980	C
TTF2	8458	genome.wustl.edu	37	1	117624635	117624635	+	Intron	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:117624635T>C	ENST00000369466.4	+	10	1947					NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GAGGGGAACGTCTTCAGCTAA	0.423																																																	0																																										SO:0001627	intron_variant	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1903+66T>C	1.37:g.117624635T>C			A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	RNA	SNP	-	NULL	ENST00000369466.4	37	NULL	CCDS892.1	1																																																																																			TTF2	-	-		0.423	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	T			117624635	+1	no_errors	ENST00000464062	ensembl	human	known	70_37	rna	SNP	0.000	C
TTK	7272	genome.wustl.edu	37	6	80749469	80749469	+	Silent	SNP	C	C	T	rs145532931		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:80749469C>T	ENST00000369798.2	+	19	2298	c.2187C>T	c.(2185-2187)taC>taT	p.Y729Y	TTK_ENST00000230510.3_Silent_p.Y728Y|TTK_ENST00000509894.1_Silent_p.Y728Y	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	729	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATATGACTTACGGGAAAACAC	0.313																																																	0								C	,	0,4406		0,0,2203	67.0	69.0	69.0		2184,2187	-2.5	0.4	6	dbSNP_134	69	1,8565	1.2+/-3.3	0,1,4282	no	coding-synonymous,coding-synonymous	TTK	NM_001166691.1,NM_003318.4	,	0,1,6485	TT,TC,CC		0.0117,0.0,0.0077	,	728/857,729/858	80749469	1,12971	2203	4283	6486	SO:0001819	synonymous_variant	7272				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2187C>T	6.37:g.80749469C>T			A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	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.Y729	ENST00000369798.2	37	c.2187	CCDS4993.1	6																																																																																			TTK	-	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		0.313	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	C			80749469	+1	no_errors	ENST00000369798	ensembl	human	known	70_37	silent	SNP	0.968	T
TTLL2	83887	genome.wustl.edu	37	6	167754124	167754124	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:167754124C>A	ENST00000239587.5	+	3	824	c.736C>A	c.(736-738)Cct>Act	p.P246T		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	246	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TATCTCCAATCCTTTACTTAT	0.383																																																	0													143.0	144.0	143.0					6																	167754124		2203	4300	6503	SO:0001583	missense	83887			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.736C>A	6.37:g.167754124C>A	ENSP00000239587:p.Pro246Thr		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.P246T	ENST00000239587.5	37	c.736	CCDS5301.1	6	.	.	.	.	.	.	.	.	.	.	C	9.785	1.176232	0.21704	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.68181	-0.31	3.4	1.51	0.23008	.	0.087235	0.45606	D	0.000356	T	0.79644	0.4481	H	0.96430	3.82	0.36546	D	0.87154	D	0.89917	1.0	D	0.87578	0.998	T	0.79017	-0.1975	10	0.87932	D	0	.	6.3048	0.21133	0.1823:0.7143:0.0:0.1034	.	246	Q9BWV7	TTLL2_HUMAN	T	246;173	ENSP00000239587:P246T	ENSP00000239587:P246T	P	+	1	0	TTLL2	167674114	1.000000	0.71417	0.563000	0.28383	0.028000	0.11728	2.074000	0.41529	0.223000	0.20920	-0.350000	0.07774	CCT	TTLL2	-	pfam_Tub_tyr_ligase		0.383	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	HGNC	protein_coding	OTTHUMT00000043127.3	C	NM_031949		167754124	+1	no_errors	ENST00000239587	ensembl	human	known	70_37	missense	SNP	0.992	A
TTN	7273	genome.wustl.edu	37	2	179391859	179391859	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179391859G>A	ENST00000591111.1	-	313	103157	c.102933C>T	c.(102931-102933)gaC>gaT	p.D34311D	TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.D33384D|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.D26887D|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.D27012D|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.D27079D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000589042.1_Silent_p.D35952D|TTN-AS1_ENST00000442329.2_RNA			Q8WZ42	TITIN_HUMAN	titin	34311	Ig-like 152.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTTGTCAGGTCATCTGTGT	0.458																																																	0													231.0	207.0	215.0					2																	179391859		1959	4157	6116	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102933C>T	2.37:g.179391859G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D33384	ENST00000591111.1	37	c.100152		2																																																																																			TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179391859	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179396051	179396051	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179396051T>C	ENST00000591111.1	-	308	100592	c.100368A>G	c.(100366-100368)gaA>gaG	p.E33456E	TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.E32529E|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.E26032E|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.E26157E|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.E26224E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000589042.1_Silent_p.E35097E|TTN-AS1_ENST00000442329.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33456					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCAGAGTGTTCATATGAGG	0.408																																																	0													110.0	113.0	112.0					2																	179396051		1893	4119	6012	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100368A>G	2.37:g.179396051T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E32529	ENST00000591111.1	37	c.97587		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179396051	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.413	C
TTN	7273	genome.wustl.edu	37	2	179411050	179411050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179411050G>A	ENST00000591111.1	-	292	90309	c.90085C>T	c.(90085-90087)Cga>Tga	p.R30029*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R29102*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R22605*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R22730*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R22797*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R31670*			Q8WZ42	TITIN_HUMAN	titin	30029	Ig-like 136.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGTTGCTCGTTTGCCAGTA	0.458																																																	0													174.0	170.0	171.0					2																	179411050		1937	4134	6071	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90085C>T	2.37:g.179411050G>A	ENSP00000465570:p.Arg30029*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R29102*	ENST00000591111.1	37	c.87304		2	.	.	.	.	.	.	.	.	.	.	G	68	103.355250	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.66	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9367	0.79717	0.0:0.0:0.8637:0.1363	.	.	.	.	X	29102;22605;22797;22730;22602	.	ENSP00000340554:R22797X	R	-	1	2	TTN	179119296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.030000	0.49720	1.353000	0.45828	0.655000	0.94253	CGA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179411050	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179439245	179439245	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179439245G>T	ENST00000591111.1	-	276	66915	c.66691C>A	c.(66691-66693)Ctc>Atc	p.L22231I	TTN_ENST00000342992.6_Missense_Mutation_p.L21304I|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L14807I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L14932I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L14999I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L23872I			Q8WZ42	TITIN_HUMAN	titin	22231	Fibronectin type-III 61. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTGCCAGAGAATACCATTT	0.408																																																	0													183.0	181.0	182.0					2																	179439245		1903	4116	6019	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66691C>A	2.37:g.179439245G>T	ENSP00000465570:p.Leu22231Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L21304I	ENST00000591111.1	37	c.63910		2	.	.	.	.	.	.	.	.	.	.	G	5.830	0.337398	0.11013	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.7	3.9	0.45041	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53481	0.1799	M	0.75085	2.285	0.34410	D	0.696289	B;B;B;B	0.20550	0.046;0.046;0.046;0.046	B;B;B;B	0.30943	0.122;0.122;0.122;0.122	T	0.61667	-0.7016	9	0.87932	D	0	.	7.2018	0.25885	0.0641:0.2315:0.5845:0.12	.	14807;14932;14999;22231	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	21304;14807;14999;14932;14805	ENSP00000343764:L21304I;ENSP00000434586:L14807I;ENSP00000340554:L14999I;ENSP00000352154:L14932I	ENSP00000340554:L14999I	L	-	1	0	TTN	179147491	1.000000	0.71417	0.999000	0.59377	0.596000	0.36781	3.360000	0.52299	0.774000	0.33427	-0.826000	0.03091	CTC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179439245	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	T
TTN	7273	genome.wustl.edu	37	2	179454957	179454957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179454957G>A	ENST00000591111.1	-	254	56796	c.56572C>T	c.(56572-56574)Cga>Tga	p.R18858*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R17931*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R11434*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R11559*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R11626*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R20499*			Q8WZ42	TITIN_HUMAN	titin	18858	Ig-like 107.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R17929R(1)|p.R11434R(1)|p.R11626R(1)|p.R17931R(1)|p.R11559R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGACTCGAGCTAGAATG	0.443																																																	5	Substitution - coding silent(5)	lung(5)											178.0	166.0	170.0					2																	179454957		1960	4142	6102	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56572C>T	2.37:g.179454957G>A	ENSP00000465570:p.Arg18858*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R17931*	ENST00000591111.1	37	c.53791		2	.	.	.	.	.	.	.	.	.	.	G	61	53.644592	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.96	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7805	0.78257	0.0:0.0:0.6915:0.3085	.	.	.	.	X	17931;11434;11626;11559;11432	.	ENSP00000340554:R11626X	R	-	1	2	TTN	179163203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.942000	0.56614	1.511000	0.48818	0.655000	0.94253	CGA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179454957	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	0.782	A
TTN	7273	genome.wustl.edu	37	2	179462522	179462522	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179462522G>T	ENST00000591111.1	-	244	52588	c.52364C>A	c.(52363-52365)gCc>gAc	p.A17455D	TTN_ENST00000342992.6_Missense_Mutation_p.A16528D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A10031D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10156D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A10223D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A19096D			Q8WZ42	TITIN_HUMAN	titin	17455	Ig-like 103.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGACACTGGCATCTAGCTG	0.433																																																	0													97.0	87.0	90.0					2																	179462522		1974	4169	6143	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52364C>A	2.37:g.179462522G>T	ENSP00000465570:p.Ala17455Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A16528D	ENST00000591111.1	37	c.49583		2	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628949	0.67015	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64260	-0.09;0.14;0.1;0.09	6.07	6.07	0.98685	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.75376	0.3841	L	0.42744	1.35	0.58432	D	0.999999	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.73708	0.964;0.964;0.964;0.981	T	0.75311	-0.3362	9	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	10031;10156;10223;17455	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	16528;10031;10223;10156;10029	ENSP00000343764:A16528D;ENSP00000434586:A10031D;ENSP00000340554:A10223D;ENSP00000352154:A10156D	ENSP00000340554:A10223D	A	-	2	0	TTN	179170767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.793000	0.99091	2.885000	0.99019	0.655000	0.94253	GCC	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179462522	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179477702	179477702	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179477702C>A	ENST00000591111.1	-	215	45047	c.44823G>T	c.(44821-44823)aaG>aaT	p.K14941N	TTN_ENST00000342992.6_Missense_Mutation_p.K14014N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K7517N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K7642N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K7709N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K16582N			Q8WZ42	TITIN_HUMAN	titin	14941	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGACTCAATCTTTGCACCTC	0.483																																																	0													93.0	92.0	92.0					2																	179477702		1981	4170	6151	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44823G>T	2.37:g.179477702C>A	ENSP00000465570:p.Lys14941Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K14014N	ENST00000591111.1	37	c.42042		2	.	.	.	.	.	.	.	.	.	.	C	7.488	0.650074	0.14516	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.6	4.72	0.59763	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65080	0.2657	L	0.53249	1.67	0.49483	D	0.999795	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.67027	-0.5774	9	0.87932	D	0	.	9.2028	0.37270	0.0:0.7913:0.0:0.2087	.	7517;7642;7709;14941	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	14014;7517;7709;7642;7517	ENSP00000343764:K14014N;ENSP00000434586:K7517N;ENSP00000340554:K7709N;ENSP00000352154:K7642N	ENSP00000340554:K7709N	K	-	3	2	TTN	179185947	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	3.312000	0.51927	1.359000	0.45940	0.557000	0.71058	AAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179477702	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179481337	179481337	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179481337C>A	ENST00000591111.1	-	207	43482	c.43258G>T	c.(43258-43260)Gaa>Taa	p.E14420*	TTN_ENST00000342992.6_Nonsense_Mutation_p.E13493*|TTN-AS1_ENST00000589234.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E6996*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E7121*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E7188*|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E16061*			Q8WZ42	TITIN_HUMAN	titin	14420	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTCAATTCTTTGGGTGCA	0.388																																																	0													97.0	93.0	94.0					2																	179481337		1870	4112	5982	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43258G>T	2.37:g.179481337C>A	ENSP00000465570:p.Glu14420*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E13493*	ENST00000591111.1	37	c.40477		2	.	.	.	.	.	.	.	.	.	.	C	59	35.429704	0.99982	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9089	0.97019	0.0:1.0:0.0:0.0	.	.	.	.	X	13493;6996;7188;7121;6996	.	ENSP00000340554:E7188X	E	-	1	0	TTN	179189582	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.644000	0.83416	2.793000	0.96121	0.655000	0.94253	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179481337	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179550275	179550275	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179550275A>C	ENST00000591111.1	-	126	31635	c.31411T>G	c.(31411-31413)Tct>Gct	p.S10471A	TTN_ENST00000342992.6_Missense_Mutation_p.S9544A|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S10788A			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTCTTAGAAATAATGTGC	0.358																																																	0													108.0	104.0	105.0					2																	179550275		1905	4119	6024	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31411T>G	2.37:g.179550275A>C	ENSP00000465570:p.Ser10471Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S9544A	ENST00000591111.1	37	c.28630		2	.	.	.	.	.	.	.	.	.	.	A	12.37	1.918028	0.33815	.	.	ENSG00000155657	ENST00000342992	T	0.64803	-0.12	5.95	3.54	0.40534	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.42017	0.1184	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24368	-1.0162	9	0.87932	D	0	.	6.7423	0.23443	0.4632:0.4375:0.0993:0.0	.	10471	Q8WZ42	TITIN_HUMAN	A	9544	ENSP00000343764:S9544A	ENSP00000343764:S9544A	S	-	1	0	TTN	179258520	0.996000	0.38824	0.410000	0.26471	0.976000	0.68499	1.961000	0.40432	0.480000	0.27534	0.533000	0.62120	TCT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179550275	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.885	C
TTN	7273	genome.wustl.edu	37	2	179560599	179560599	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179560599G>T	ENST00000591111.1	-	112	30473	c.30249C>A	c.(30247-30249)gtC>gtA	p.V10083V	TTN_ENST00000342992.6_Silent_p.V9156V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.V10400V			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCTTCATAGACCTCCTTTT	0.378																																																	0													129.0	124.0	125.0					2																	179560599		1353	2809	4162	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30249C>A	2.37:g.179560599G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V9156	ENST00000591111.1	37	c.27468		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179560599	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.999	T
TTN	7273	genome.wustl.edu	37	2	179579122	179579122	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179579122G>T	ENST00000591111.1	-	89	25652	c.25428C>A	c.(25426-25428)acC>acA	p.T8476T	TTN_ENST00000342992.6_Silent_p.T7549T|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.T8793T			Q8WZ42	TITIN_HUMAN	titin	12644	Ig-like 67.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAACTGTAAGGTTGCAATGT	0.428																																																	0													98.0	93.0	95.0					2																	179579122		1859	4099	5958	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25428C>A	2.37:g.179579122G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T7549	ENST00000591111.1	37	c.22647		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179579122	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.817	T
TTN	7273	genome.wustl.edu	37	2	179584978	179584978	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179584978G>A	ENST00000591111.1	-	79	22664	c.22440C>T	c.(22438-22440)ttC>ttT	p.F7480F	TTN_ENST00000342992.6_Silent_p.F6553F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.F7797F			Q8WZ42	TITIN_HUMAN	titin	13036	Ig-like 57.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTTTTCACGAATCGTGGAG	0.438																																																	0													95.0	87.0	90.0					2																	179584978		1863	4105	5968	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22440C>T	2.37:g.179584978G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.F6553	ENST00000591111.1	37	c.19659		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179584978	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179586756	179586756	+	Missense_Mutation	SNP	C	C	T	rs72648969		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179586756C>T	ENST00000591111.1	-	76	21907	c.21683G>A	c.(21682-21684)cGa>cAa	p.R7228Q	TTN_ENST00000342992.6_Missense_Mutation_p.R6301Q|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R7545Q			Q8WZ42	TITIN_HUMAN	titin	12796	Ig-like 54.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAGTGATTCGCATCGGTTG	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		20892	0.0		0.001	False		,,,				2504	0.0																0								C	GLN/ARG,,,	3,3899		0,3,1948	252.0	238.0	242.0		18902,,,	6.2	1.0	2	dbSNP_130	242	33,8243		1,31,4106	yes	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	43,,,	1,34,6054	TT,TC,CC		0.3987,0.0769,0.2956	possibly-damaging,,,	6301/33424,,,	179586756	36,12142	1951	4138	6089	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21683G>A	2.37:g.179586756C>T	ENSP00000465570:p.Arg7228Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R6301Q	ENST00000591111.1	37	c.18902		2	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534472	0.27475	7.69E-4	0.003987	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40423	0.1116	N	0.17082	0.46	0.58432	D	0.999996	P	0.48407	0.91	B	0.35470	0.203	T	0.46679	-0.9174	9	0.87932	D	0	.	8.3238	0.32145	0.0:0.7349:0.1342:0.1309	.	7228	Q8WZ42	TITIN_HUMAN	Q	6301	ENSP00000343764:R6301Q	ENSP00000343764:R6301Q	R	-	2	0	TTN	179295001	0.107000	0.21998	1.000000	0.80357	0.971000	0.66376	1.145000	0.31577	2.937000	0.99478	0.650000	0.86243	CGA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179586756	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.840	T
TTN	7273	genome.wustl.edu	37	2	179594406	179594406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179594406C>A	ENST00000591111.1	-	61	17847	c.17623G>T	c.(17623-17625)Gaa>Taa	p.E5875*	TTN_ENST00000342992.6_Nonsense_Mutation_p.E4948*|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.E6192*			Q8WZ42	TITIN_HUMAN	titin	12674	Ig-like 39.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTTGAGTTCAATGCTGCAG	0.468																																																	0													134.0	129.0	130.0					2																	179594406		1929	4150	6079	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17623G>T	2.37:g.179594406C>A	ENSP00000465570:p.Glu5875*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E4948*	ENST00000591111.1	37	c.14842		2	.	.	.	.	.	.	.	.	.	.	C	56	25.870742	0.99966	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.17	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6684	0.88209	0.0:0.877:0.1229:0.0	.	.	.	.	X	4948	.	ENSP00000343764:E4948X	E	-	1	0	TTN	179302651	1.000000	0.71417	0.996000	0.52242	0.358000	0.29455	4.576000	0.60915	1.616000	0.50265	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179594406	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179595343	179595343	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179595343T>C	ENST00000591111.1	-	59	17190	c.16966A>G	c.(16966-16968)Act>Gct	p.T5656A	TTN_ENST00000342992.6_Missense_Mutation_p.T4729A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T5973A			Q8WZ42	TITIN_HUMAN	titin	12465	Ig-like 37.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGAAGGCAGTATTGTCATGA	0.443																																																	0													120.0	117.0	118.0					2																	179595343		1898	4131	6029	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16966A>G	2.37:g.179595343T>C	ENSP00000465570:p.Thr5656Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T4729A	ENST00000591111.1	37	c.14185		2	.	.	.	.	.	.	.	.	.	.	T	10.88	1.475878	0.26511	.	.	ENSG00000155657	ENST00000342992	T	0.67523	-0.27	5.99	5.99	0.97316	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66896	0.2836	L	0.61218	1.895	0.80722	D	1	B	0.17465	0.022	B	0.17433	0.018	T	0.64744	-0.6335	9	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	5656	Q8WZ42	TITIN_HUMAN	A	4729	ENSP00000343764:T4729A	ENSP00000343764:T4729A	T	-	1	0	TTN	179303588	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.064000	0.71169	2.291000	0.77112	0.533000	0.62120	ACT	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179595343	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.998	C
TTN	7273	genome.wustl.edu	37	2	179595731	179595731	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179595731C>A	ENST00000591111.1	-	58	16934	c.16710G>T	c.(16708-16710)aaG>aaT	p.K5570N	TTN_ENST00000342992.6_Missense_Mutation_p.K4643N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K5887N			Q8WZ42	TITIN_HUMAN	titin	12387	Ig-like 36.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTATCTTTCTTTTCTGTAG	0.378																																																	0													166.0	162.0	164.0					2																	179595731		1859	4101	5960	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16710G>T	2.37:g.179595731C>A	ENSP00000465570:p.Lys5570Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K4643N	ENST00000591111.1	37	c.13929		2	.	.	.	.	.	.	.	.	.	.	C	9.430	1.085203	0.20390	.	.	ENSG00000155657	ENST00000342992	T	0.43688	0.94	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64494	0.2603	M	0.62266	1.93	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.64728	-0.6339	9	0.87932	D	0	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	5570	Q8WZ42	TITIN_HUMAN	N	4643	ENSP00000343764:K4643N	ENSP00000343764:K4643N	K	-	3	2	TTN	179303976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.157000	0.42320	2.771000	0.95319	0.563000	0.77884	AAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179595731	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179599566	179599566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179599566G>A	ENST00000591111.1	-	49	14358	c.14134C>T	c.(14134-14136)Cga>Tga	p.R4712*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R3785*|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R5029*			Q8WZ42	TITIN_HUMAN	titin	12092	Ig-like 27.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATACATTCGGACTGTGTTA	0.418																																																	0													98.0	92.0	94.0					2																	179599566		1872	4101	5973	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14134C>T	2.37:g.179599566G>A	ENSP00000465570:p.Arg4712*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R3785*	ENST00000591111.1	37	c.11353		2	.	.	.	.	.	.	.	.	.	.	G	53	21.168747	0.99938	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.89	1.69	0.24217	.	.	.	.	.	.	.	.	.	.	.	0.50813	D	0.999899	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7485	0.77965	0.0:0.0:0.2694:0.7306	.	.	.	.	X	3785	.	ENSP00000343764:R3785X	R	-	1	2	TTN	179307811	1.000000	0.71417	0.526000	0.27913	0.950000	0.60333	2.122000	0.41987	0.324000	0.23333	0.655000	0.94253	CGA	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179599566	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	0.687	A
TTN	7273	genome.wustl.edu	37	2	179606229	179606229	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179606229A>C	ENST00000591111.1	-	46	11004	c.10780T>G	c.(10780-10782)Tcc>Gcc	p.S3594A	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S3548A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S3673A|TTN_ENST00000342175.6_Missense_Mutation_p.S3740A|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S3911A			Q8WZ42	TITIN_HUMAN	titin	13912					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCCTTTGGAATTAATTTTT	0.418																																																	0													128.0	123.0	125.0					2																	179606229		1890	4106	5996	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10780T>G	2.37:g.179606229A>C	ENSP00000465570:p.Ser3594Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S3740A	ENST00000591111.1	37	c.11218		2	.	.	.	.	.	.	.	.	.	.	A	5.350	0.249814	0.10130	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.39592	1.07;1.07;1.07	5.69	-3.11	0.05299	.	.	.	.	.	T	0.29945	0.0749	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.31138	-0.9954	9	0.87932	D	0	.	15.5896	0.76517	0.2494:0.0:0.7506:0.0	.	3548;3673;3740	D3DPF9;E7EQE6;E7ET18	.;.;.	A	3548;3740;3673;3548	ENSP00000434586:S3548A;ENSP00000340554:S3740A;ENSP00000352154:S3673A	ENSP00000340554:S3740A	S	-	1	0	TTN	179314474	0.000000	0.05858	0.079000	0.20413	0.195000	0.23768	-0.046000	0.11983	-0.440000	0.07211	0.533000	0.62120	TCC	TTN	-	superfamily_RNaseH-like_dom		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179606229	-1	no_errors	ENST00000342175	ensembl	human	known	70_37	missense	SNP	0.006	C
TTN	7273	genome.wustl.edu	37	2	179407701	179407701	+	Intron	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179407701A>G	ENST00000591111.1	-	298	92206				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGCATTTATTCTTAAGCA	0.353																																																	0													199.0	196.0	197.0					2																	179407701		1864	4086	5950	SO:0001627	intron_variant	100506866			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91982-25T>C	2.37:g.179407701A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	RNA	SNP	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			TTN-AS1	-	-		0.353	TTN-019	PUTATIVE	basic	protein_coding	TTN-AS1	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179407701	+1	no_errors	ENST00000590040	ensembl	human	known	70_37	rna	SNP	0.015	G
TTN	7273	genome.wustl.edu	37	2	179612456	179612456	+	Intron	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:179612456C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.D4891N|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGCCTCATCTAATTTAGGA	0.378																																																	0													61.0	62.0	61.0					2																	179612456		2203	4299	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5394G>A	2.37:g.179612456C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D4891N	ENST00000591111.1	37	c.14671		2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224903	0.39300	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57752	0.38	5.75	2.76	0.32466	.	.	.	.	.	T	0.37019	0.0988	N	0.25647	0.755	0.09310	N	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.20940	-1.0260	9	0.46703	T	0.11	.	7.3963	0.26938	0.0:0.5797:0.3018:0.1185	.	4891	Q8WZ42-6	.	N	4891;205	ENSP00000354117:D4891N	ENSP00000304714:D205N	D	-	1	0	TTN	179320701	0.032000	0.19561	0.039000	0.18376	0.125000	0.20455	0.620000	0.24403	1.532000	0.49169	0.650000	0.86243	GAT	TTN	-	NULL		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179612456	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.033	T
AC002472.1	0	genome.wustl.edu	37	22	21362975	21362975	+	5'Flank	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:21362975T>C	ENST00000547793.2	-	0	0				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA																							AAAGGGGTTGTCTCCATAAAG	0.443																																																	0																																										SO:0001631	upstream_gene_variant	113691																															22.37:g.21362975T>C	Exception_encountered			RNA	SNP	-	NULL	ENST00000547793.2	37	NULL		22																																																																																			TUBA3FP	-	-		0.443	AC002472.1-201	NOVEL	basic|appris_principal	protein_coding	TUBA3FP	HGNC	protein_coding		T			21362975	-1	no_errors	ENST00000292748	ensembl	human	known	70_37	rna	SNP	0.000	C
TUBBP5	643224	genome.wustl.edu	37	9	141070325	141070325	+	RNA	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:141070325C>T	ENST00000503395.1	+	0	1405									tubulin, beta pseudogene 5																		AAACGGGCTTCGGGAGGAAGT	0.617																																																	0																																												643224			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070325C>T				RNA	SNP	-	NULL	ENST00000503395.1	37	NULL		9																																																																																			TUBBP5	-	-		0.617	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	HGNC	pseudogene	OTTHUMT00000373087.1	C	NR_027156		141070325	+1	no_errors	ENST00000503395	ensembl	human	known	70_37	rna	SNP	0.246	T
TUBGCP5	114791	genome.wustl.edu	37	15	22848316	22848316	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:22848316A>C	ENST00000283645.4	+	9	1036	c.906A>C	c.(904-906)gtA>gtC	p.V302V	TUBGCP5_ENST00000453949.2_Silent_p.V302V	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	302					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATATTATAGTAACTCATTTAA	0.239																																																	0													74.0	84.0	80.0					15																	22848316		2201	4295	6496	SO:0001819	synonymous_variant	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.906A>C	15.37:g.22848316A>C			E9PB12|Q6IQ52|Q96PY8	Silent	SNP	pfam_Spc97_Spc98	p.V302	ENST00000283645.4	37	c.906	CCDS10008.1	15																																																																																			TUBGCP5	-	pfam_Spc97_Spc98		0.239	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	A	NM_052903		22848316	+1	no_errors	ENST00000283645	ensembl	human	known	70_37	silent	SNP	1.000	C
TULP4	56995	genome.wustl.edu	37	6	158910645	158910645	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:158910645T>G	ENST00000367097.3	+	9	2869	c.1512T>G	c.(1510-1512)atT>atG	p.I504M	TULP4_ENST00000367094.2_Missense_Mutation_p.I504M	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	504					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACAGCTTGATTTCTACTGTGA	0.433																																																	0													144.0	134.0	137.0					6																	158910645		2203	4300	6503	SO:0001583	missense	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1512T>G	6.37:g.158910645T>G	ENSP00000356064:p.Ile504Met		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I504M	ENST00000367097.3	37	c.1512	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	T	16.72	3.202733	0.58234	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.61980	0.06;0.9	5.57	0.158	0.14942	.	0.099907	0.64402	D	0.000002	T	0.55689	0.1936	L	0.44542	1.39	0.43110	D	0.994814	D;B	0.65815	0.995;0.368	D;B	0.74674	0.984;0.356	T	0.56129	-0.8030	10	0.44086	T	0.13	-6.6904	9.414	0.38510	0.0:0.4101:0.0:0.5899	.	504;504	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	M	504	ENSP00000356064:I504M;ENSP00000356061:I504M	ENSP00000356061:I504M	I	+	3	3	TULP4	158830633	0.959000	0.32827	0.952000	0.39060	0.938000	0.57974	0.033000	0.13754	-0.198000	0.10333	0.533000	0.62120	ATT	TULP4	-	NULL		0.433	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	T	NM_020245		158910645	+1	no_errors	ENST00000367097	ensembl	human	known	70_37	missense	SNP	1.000	G
TUT1	64852	genome.wustl.edu	37	11	62343112	62343112	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:62343112A>C	ENST00000476907.1	-	9	2770	c.2079T>G	c.(2077-2079)gtT>gtG	p.V693V	EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank|TUT1_ENST00000308436.7_Silent_p.V731V|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	693					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAACCTCTATAACCATCTCTT	0.582																																																	0													374.0	356.0	362.0					11																	62343112		2202	4299	6501	SO:0001819	synonymous_variant	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2079T>G	11.37:g.62343112A>C			A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V731	ENST00000476907.1	37	c.2193		11																																																																																			TUT1	-	NULL		0.582	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	A	NM_022830		62343112	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	silent	SNP	0.000	C
TXNDC11	51061	genome.wustl.edu	37	16	11824515	11824515	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:11824515G>T	ENST00000356957.3	-	4	792	c.685C>A	c.(685-687)Ctc>Atc	p.L229I	TXNDC11_ENST00000283033.5_Missense_Mutation_p.L229I			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	229					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TAGTTTGAGAGAAAATCTAGT	0.408																																																	0													129.0	128.0	128.0					16																	11824515		2197	4300	6497	SO:0001583	missense	51061			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.685C>A	16.37:g.11824515G>T	ENSP00000349439:p.Leu229Ile		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.L229I	ENST00000356957.3	37	c.685		16	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951764	0.73787	.	.	ENSG00000153066	ENST00000356957;ENST00000283033;ENST00000436567	T;T	0.33865	1.39;1.39	4.73	4.73	0.59995	.	0.067945	0.56097	D	0.000023	T	0.51975	0.1706	M	0.65498	2.005	0.46149	D	0.998898	P;D	0.71674	0.803;0.998	P;D	0.65323	0.471;0.934	T	0.47420	-0.9119	10	0.35671	T	0.21	-20.898	10.4662	0.44609	0.0886:0.0:0.9114:0.0	.	229;229	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	I	229;229;172	ENSP00000349439:L229I;ENSP00000283033:L229I	ENSP00000283033:L229I	L	-	1	0	TXNDC11	11732016	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.439000	0.66556	2.443000	0.82685	0.467000	0.42956	CTC	TXNDC11	-	NULL		0.408	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1	G	NM_015914		11824515	-1	no_errors	ENST00000356957	ensembl	human	known	70_37	missense	SNP	1.000	T
TXNIP	10628	genome.wustl.edu	37	1	145442122	145442122	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:145442122T>G	ENST00000369317.4	+	0	2414				TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein						cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAAAAAATTTTACTACTTTT	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.*904T>G	1.37:g.145442122T>G			B4E3D3|Q16226|Q6PML0|Q9BXG9	RNA	SNP	-	NULL	ENST00000369317.4	37	NULL	CCDS913.1	1																																																																																			TXNIP	-	-		0.378	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	T	NM_006472		145442122	+1	no_errors	ENST00000475171	ensembl	human	known	70_37	rna	SNP	0.000	G
TXNIP	10628	genome.wustl.edu	37	1	145442568	145442568	+	3'UTR	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:145442568A>G	ENST00000369317.4	+	0	2860				TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein						cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCAGATATATTTTTACCCC	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.*1350A>G	1.37:g.145442568A>G			B4E3D3|Q16226|Q6PML0|Q9BXG9	RNA	SNP	-	NULL	ENST00000369317.4	37	NULL	CCDS913.1	1																																																																																			TXNIP	-	-		0.299	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	A	NM_006472		145442568	+1	no_errors	ENST00000475171	ensembl	human	known	70_37	rna	SNP	1.000	G
TYW1	55253	genome.wustl.edu	37	7	66532313	66532313	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:66532313C>A	ENST00000359626.5	+	10	1361	c.1197C>A	c.(1195-1197)ttC>ttA	p.F399L		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	399					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AACACACATTCTATGGAATTG	0.418																																																	0													184.0	160.0	168.0					7																	66532313		2203	4300	6503	SO:0001583	missense	55253			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1197C>A	7.37:g.66532313C>A	ENSP00000352645:p.Phe399Leu		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin	p.F399L	ENST00000359626.5	37	c.1197	CCDS5538.1	7	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062041	0.76187	.	.	ENSG00000198874	ENST00000359626	T	0.36878	1.23	4.36	1.3	0.21679	.	0.000000	0.85682	U	0.000000	T	0.33294	0.0858	M	0.62723	1.935	0.49687	D	0.999816	B	0.22480	0.07	B	0.29440	0.102	T	0.11131	-1.0600	10	0.49607	T	0.09	.	7.1163	0.25418	0.0:0.6536:0.0:0.3464	.	399	Q9NV66	TYW1_HUMAN	L	399	ENSP00000352645:F399L	ENSP00000352645:F399L	F	+	3	2	TYW1	66169748	0.997000	0.39634	0.999000	0.59377	0.937000	0.57800	0.365000	0.20348	0.223000	0.20920	0.508000	0.49915	TTC	TYW1	-	NULL		0.418	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW1	HGNC	protein_coding	OTTHUMT00000251932.2	C	NM_018264		66532313	+1	no_errors	ENST00000359626	ensembl	human	known	70_37	missense	SNP	1.000	A
TYW3	127253	genome.wustl.edu	37	1	75202091	75202091	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:75202091G>A	ENST00000370867.3	+	2	263				TYW3_ENST00000457880.2_Intron|CRYZ_ENST00000417775.1_5'Flank|TYW3_ENST00000479111.1_Intron|TYW3_ENST00000421739.2_Intron	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)						tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						AAAACATACCGAATTGTTTTT	0.264																																																	0																																										SO:0001627	intron_variant	127253			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.175-135G>A	1.37:g.75202091G>A			B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	RNA	SNP	-	NULL	ENST00000370867.3	37	NULL	CCDS666.1	1																																																																																			TYW3	-	-		0.264	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW3	HGNC	protein_coding	OTTHUMT00000026573.1	G	NM_138467		75202091	+1	no_errors	ENST00000483990	ensembl	human	known	70_37	rna	SNP	0.000	A
UBAP2L	9898	genome.wustl.edu	37	1	154221753	154221753	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154221753A>C	ENST00000361546.2	+	11	1095	c.1053A>C	c.(1051-1053)gaA>gaC	p.E351D	UBAP2L_ENST00000428931.1_Missense_Mutation_p.E351D|UBAP2L_ENST00000271877.7_Missense_Mutation_p.E362D|UBAP2L_ENST00000343815.6_Missense_Mutation_p.E351D			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	351					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGTCGGTGAAGCTAAAGGCG	0.488																																																	0													149.0	142.0	145.0					1																	154221753		2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1053A>C	1.37:g.154221753A>C	ENSP00000355343:p.Glu351Asp		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E351D	ENST00000361546.2	37	c.1053	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940876	0.34283	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000361546	T;T;T;T	0.12255	2.7;2.71;2.7;2.71	5.5	1.98	0.26296	.	0.159998	0.56097	D	0.000039	T	0.01627	0.0052	N	0.03115	-0.41	0.35165	D	0.771021	B;B;B;B;B	0.15719	0.002;0.014;0.003;0.003;0.002	B;B;B;B;B	0.20955	0.002;0.032;0.007;0.007;0.003	T	0.46148	-0.9212	10	0.20519	T	0.43	-7.3468	7.9589	0.30060	0.5777:0.0:0.4223:0.0	.	265;362;344;351;351	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	D	351;351;362;351	ENSP00000345308:E351D;ENSP00000389445:E351D;ENSP00000271877:E362D;ENSP00000355343:E351D	ENSP00000271877:E362D	E	+	3	2	UBAP2L	152488377	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	1.006000	0.29847	0.180000	0.19960	0.533000	0.62120	GAA	UBAP2L	-	NULL		0.488	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	A	NM_014847		154221753	+1	no_errors	ENST00000361546	ensembl	human	known	70_37	missense	SNP	0.988	C
UBASH3B	84959	genome.wustl.edu	37	11	122678796	122678796	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:122678796C>T	ENST00000284273.5	+	13	2099	c.1724C>T	c.(1723-1725)gCc>gTc	p.A575V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	575	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CTGATTGTGGCCCACGCATCT	0.448																																																	0													344.0	330.0	335.0					11																	122678796		2202	4299	6501	SO:0001583	missense	84959			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1724C>T	11.37:g.122678796C>T	ENSP00000284273:p.Ala575Val		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.A575V	ENST00000284273.5	37	c.1724	CCDS31694.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.324325	0.95708	.	.	ENSG00000154127	ENST00000284273	T	0.37752	1.18	5.85	5.85	0.93711	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	N	0.20401	0.57	0.80722	D	1	D	0.63046	0.992	P	0.56434	0.798	T	0.32375	-0.9909	10	0.54805	T	0.06	-35.2152	19.7681	0.96350	0.0:1.0:0.0:0.0	.	575	Q8TF42	UBS3B_HUMAN	V	575	ENSP00000284273:A575V	ENSP00000284273:A575V	A	+	2	0	UBASH3B	122184006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.638000	0.67861	2.768000	0.95171	0.655000	0.94253	GCC	UBASH3B	-	pfam_His_Pase_superF_clade-1		0.448	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	C	NM_032873		122678796	+1	no_errors	ENST00000284273	ensembl	human	known	70_37	missense	SNP	1.000	T
UBE2I	7329	genome.wustl.edu	37	16	1374764	1374764	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:1374764A>G	ENST00000355803.4	+	7	998	c.447A>G	c.(445-447)cgA>cgG	p.R149R	UBE2I_ENST00000397515.2_Silent_p.R149R|UBE2I_ENST00000566587.1_Silent_p.R149R|UBE2I_ENST00000325437.5_Silent_p.R149R|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Silent_p.R149R|UBE2I_ENST00000406620.1_Silent_p.R149R|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000403747.2_Silent_p.R149R	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	149					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				AAAGGGTCCGAGCACAAGCCA	0.522																																																	0													107.0	93.0	98.0					16																	1374764		2199	4300	6499	SO:0001819	synonymous_variant	7329			D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.447A>G	16.37:g.1374764A>G			D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.R149	ENST00000355803.4	37	c.447	CCDS10433.1	16																																																																																			UBE2I	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD		0.522	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBE2I	HGNC	protein_coding	OTTHUMT00000250317.2	A	NM_003345		1374764	+1	no_errors	ENST00000325437	ensembl	human	known	70_37	silent	SNP	1.000	G
UBE2Q1	55585	genome.wustl.edu	37	1	154524250	154524250	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154524250T>C	ENST00000292211.4	-	10	1150	c.1071A>G	c.(1069-1071)aaA>aaG	p.K357K	UBE2Q1-AS1_ENST00000441613.1_RNA|UBE2Q1_ENST00000497453.1_5'Flank	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	357					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCTCACCTGTTTGGTGAGAA	0.562																																																	0													136.0	144.0	142.0					1																	154524250		2203	4300	6503	SO:0001819	synonymous_variant	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1071A>G	1.37:g.154524250T>C			B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K357	ENST00000292211.4	37	c.1071	CCDS1069.1	1																																																																																			UBE2Q1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.562	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	T	NM_017582		154524250	-1	no_errors	ENST00000292211	ensembl	human	known	70_37	silent	SNP	1.000	C
UBE2Q1	55585	genome.wustl.edu	37	1	154527963	154527963	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:154527963A>C	ENST00000292211.4	-	3	557	c.478T>G	c.(478-480)Tat>Gat	p.Y160D	UBE2Q1-AS1_ENST00000441613.1_RNA|UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	160					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGAGGTTATAGAGTTTACAC	0.532																																																	0													156.0	148.0	151.0					1																	154527963		2203	4300	6503	SO:0001583	missense	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.478T>G	1.37:g.154527963A>C	ENSP00000292211:p.Tyr160Asp		B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.Y160D	ENST00000292211.4	37	c.478	CCDS1069.1	1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435423	0.83885	.	.	ENSG00000160714	ENST00000292211	.	.	.	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.60157	0.2247	L	0.47716	1.5	0.51482	D	0.999922	D	0.65815	0.995	D	0.66351	0.943	T	0.65821	-0.6075	9	0.87932	D	0	-10.8879	13.3002	0.60321	1.0:0.0:0.0:0.0	.	160	Q7Z7E8	UB2Q1_HUMAN	D	160	.	ENSP00000292211:Y160D	Y	-	1	0	UBE2Q1	152794587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.756000	0.91651	2.078000	0.62432	0.374000	0.22700	TAT	UBE2Q1	-	NULL		0.532	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	A	NM_017582		154527963	-1	no_errors	ENST00000292211	ensembl	human	known	70_37	missense	SNP	1.000	C
UBXN4	23190	genome.wustl.edu	37	2	136528183	136528183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:136528183G>T	ENST00000272638.9	+	8	1011	c.700G>T	c.(700-702)Gaa>Taa	p.E234*	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	234					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACTGGAAAAGAAATGTTGGA	0.328																																																	0													68.0	63.0	64.0					2																	136528183		1801	4066	5867	SO:0001587	stop_gained	23190			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.700G>T	2.37:g.136528183G>T	ENSP00000272638:p.Glu234*		A8K9W4|Q4ZG56|Q8IYM5	Nonsense_Mutation	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.E234*	ENST00000272638.9	37	c.700	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.926531	0.97940	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	.	.	.	5.54	4.67	0.58626	.	0.187278	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	14.6656	0.68904	0.07:0.0:0.93:0.0	.	.	.	.	X	234;216	.	ENSP00000272638:E234X	E	+	1	0	UBXN4	136244653	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.001000	0.57046	1.353000	0.45828	-0.203000	0.12734	GAA	UBXN4	-	NULL		0.328	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	G	NM_014607		136528183	+1	no_errors	ENST00000272638	ensembl	human	known	70_37	nonsense	SNP	1.000	T
UCHL1	7345	genome.wustl.edu	37	4	41262670	41262670	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:41262670A>C	ENST00000284440.4	+	4	325	c.181A>C	c.(181-183)Aac>Cac	p.N61H	UCHL1_ENST00000503431.1_Missense_Mutation_p.N61H|UCHL1_ENST00000512788.1_Missense_Mutation_p.N61H|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000508768.1_Missense_Mutation_p.N61H	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	61					adult walking behavior (GO:0007628)|axon target recognition (GO:0007412)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|cell proliferation (GO:0008283)|eating behavior (GO:0042755)|muscle fiber development (GO:0048747)|negative regulation of MAP kinase activity (GO:0043407)|neuromuscular process (GO:0050905)|protein deubiquitination (GO:0016579)|response to ischemia (GO:0002931)|sensory perception of pain (GO:0019233)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	alpha-2A adrenergic receptor binding (GO:0031694)|cysteine-type endopeptidase activity (GO:0004197)|ligase activity (GO:0016874)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GCAGCATGAGAACTTCAGGAA	0.418																																																	0													96.0	89.0	91.0					4																	41262670		2203	4300	6503	SO:0001583	missense	7345			BC000332	CCDS3462.1	4p13	2011-07-21			ENSG00000154277	ENSG00000154277	3.4.19.12	"""Parkinson disease"""	12513	protein-coding gene	gene with protein product		191342		PARK5		1840236	Standard	NM_004181		Approved	PGP9.5, Uch-L1	uc003gvo.3	P09936	OTTHUMG00000099377	ENST00000284440.4:c.181A>C	4.37:g.41262670A>C	ENSP00000284440:p.Asn61His		Q4W5K6|Q71UM0	Missense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.N61H	ENST00000284440.4	37	c.181	CCDS3462.1	4	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302494	0.60195	.	.	ENSG00000154277	ENST00000503431;ENST00000284440;ENST00000508768;ENST00000512788	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.06	5.06	0.68205	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.207467	0.49916	D	0.000136	T	0.53077	0.1774	L	0.46741	1.465	0.46376	D	0.999015	P	0.42556	0.783	P	0.45071	0.468	T	0.57277	-0.7839	10	0.56958	D	0.05	-24.3722	14.9781	0.71289	1.0:0.0:0.0:0.0	.	61	P09936	UCHL1_HUMAN	H	61	ENSP00000422542:N61H;ENSP00000284440:N61H;ENSP00000426895:N61H;ENSP00000423623:N61H	ENSP00000284440:N61H	N	+	1	0	UCHL1	40957427	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.597000	0.46214	2.117000	0.64856	0.533000	0.62120	AAC	UCHL1	-	pfam_Peptidase_C12		0.418	UCHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCHL1	HGNC	protein_coding	OTTHUMT00000216827.1	A	NM_004181		41262670	+1	no_errors	ENST00000284440	ensembl	human	known	70_37	missense	SNP	1.000	C
UCKL1	54963	genome.wustl.edu	37	20	62577388	62577388	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:62577388G>A	ENST00000354216.6	-	4	454				UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000358711.3_Intron|UCKL1_ENST00000369892.3_Intron|UCKL1_ENST00000369908.5_Intron	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1						CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAATGCCAGCGGACAGGGGCT	0.652																																																	0																																										SO:0001627	intron_variant	54963			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.412-60C>T	20.37:g.62577388G>A			B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	RNA	SNP	-	NULL	ENST00000354216.6	37	NULL	CCDS13547.1	20																																																																																			UCKL1	-	-		0.652	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	HGNC	protein_coding	OTTHUMT00000080236.1	G	NM_017859		62577388	-1	no_errors	ENST00000492660	ensembl	human	known	70_37	rna	SNP	0.000	A
UFSP2	55325	genome.wustl.edu	37	4	186339923	186339923	+	Splice_Site	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:186339923T>G	ENST00000264689.6	-	3	200	c.84A>C	c.(82-84)gaA>gaC	p.E28D	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	28						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TGAGAAAAATTTCTAAATTAA	0.323																																																	0													27.0	28.0	28.0					4																	186339923		2202	4299	6501	SO:0001630	splice_region_variant	55325			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.83-1A>C	4.37:g.186339923T>G			Q6IA77|Q96FS3	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2	p.E28D	ENST00000264689.6	37	c.84	CCDS3842.1	4	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765169	0.31228	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.49139	1.5;0.79	5.87	0.323	0.15893	.	0.331275	0.31760	N	0.007107	T	0.30603	0.0770	L	0.33485	1.01	0.28012	N	0.934869	B	0.02656	0.0	B	0.01281	0.0	T	0.15378	-1.0439	10	0.31617	T	0.26	.	7.8478	0.29435	0.1567:0.0:0.2932:0.5502	.	28	Q9NUQ7	UFSP2_HUMAN	D	28;22	ENSP00000264689:E28D;ENSP00000423108:E22D	ENSP00000264689:E28D	E	-	3	2	UFSP2	186576917	0.947000	0.32204	0.979000	0.43373	0.927000	0.56198	-0.039000	0.12124	0.435000	0.26365	0.482000	0.46254	GAA	UFSP2	-	NULL		0.323	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFSP2	HGNC	protein_coding	OTTHUMT00000360589.2	T	NM_018359	Missense_Mutation	186339923	-1	no_errors	ENST00000264689	ensembl	human	known	70_37	missense	SNP	0.555	G
UGGT2	55757	genome.wustl.edu	37	13	96508474	96508474	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:96508474G>T	ENST00000376747.3	-	34	4016	c.3946C>A	c.(3946-3948)Ctt>Att	p.L1316I		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1316	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCAAGGAAAAGAATTTTGTAA	0.373																																																	0													118.0	123.0	121.0					13																	96508474		2203	4300	6503	SO:0001583	missense	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3946C>A	13.37:g.96508474G>T	ENSP00000365938:p.Leu1316Ile		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.L1316I	ENST00000376747.3	37	c.3946	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036314	0.93630	.	.	ENSG00000102595	ENST00000376747	T	0.43688	0.94	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80728	-0.1253	10	0.87932	D	0	-17.1743	19.7613	0.96319	0.0:0.0:1.0:0.0	.	1316	Q9NYU1	UGGG2_HUMAN	I	1316	ENSP00000365938:L1316I	ENSP00000365938:L1316I	L	-	1	0	UGGT2	95306475	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.661000	0.90470	0.655000	0.94253	CTT	UGGT2	-	pfam_Glyco_trans_8		0.373	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	G	NM_020121		96508474	-1	no_errors	ENST00000376747	ensembl	human	known	70_37	missense	SNP	1.000	T
UGT1A9	54600	genome.wustl.edu	37	2	234581228	234581228	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:234581228A>G	ENST00000354728.4	+	1	730	c.648A>G	c.(646-648)gaA>gaG	p.E216E	UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Silent_p.E216E|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	216					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	ACTTGGAGGAACATTTATTAT	0.443																																																	0													215.0	221.0	219.0					2																	234581228		2203	4300	6503	SO:0001819	synonymous_variant	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.648A>G	2.37:g.234581228A>G			B8K285|P36509|Q9HAX0	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E216	ENST00000354728.4	37	c.648	CCDS2505.1	2																																																																																			UGT1A9	-	pfam_UDP_glucos_trans		0.443	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A9	HGNC	protein_coding	OTTHUMT00000130995.1	A	NM_021027		234581228	+1	no_errors	ENST00000354728	ensembl	human	known	70_37	silent	SNP	0.002	G
UGT2B4	7363	genome.wustl.edu	37	4	70361486	70361486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:70361486C>A	ENST00000305107.6	-	1	140	c.94G>T	c.(94-96)Gaa>Taa	p.E32*	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.E32*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	32					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TGGCTGAATTCTGTGGGCCAC	0.458																																																	0													146.0	148.0	147.0					4																	70361486		2203	4299	6502	SO:0001587	stop_gained	7363			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.94G>T	4.37:g.70361486C>A	ENSP00000305221:p.Glu32*		A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Nonsense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E32*	ENST00000305107.6	37	c.94	CCDS43234.1	4	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585448	0.86748	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000510114	.	.	.	2.41	1.53	0.23141	.	0.166670	0.37577	U	0.002025	.	.	.	.	.	.	0.34855	D	0.742058	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.7643	0.23558	0.0:0.8375:0.0:0.1625	.	.	.	.	X	32	.	ENSP00000305221:E32X	E	-	1	0	UGT2B4	70396075	0.986000	0.35501	0.003000	0.11579	0.019000	0.09904	2.972000	0.49256	1.343000	0.45638	0.306000	0.20318	GAA	UGT2B4	-	pfam_UDP_glucos_trans		0.458	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B4	HGNC	protein_coding	OTTHUMT00000365526.1	C	NM_021139		70361486	-1	no_errors	ENST00000305107	ensembl	human	known	70_37	nonsense	SNP	0.057	A
UNC13C	440279	genome.wustl.edu	37	15	54838927	54838927	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:54838927C>T	ENST00000260323.11	+	26	5704	c.5704C>T	c.(5704-5706)Ctc>Ttc	p.L1902F	UNC13C_ENST00000545554.1_Missense_Mutation_p.L1902F|UNC13C_ENST00000537900.1_Missense_Mutation_p.L1900F	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1902	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGATTAAGTCTCTCAGCAAA	0.284																																																	0													23.0	20.0	21.0					15																	54838927		1664	3839	5503	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5704C>T	15.37:g.54838927C>T	ENSP00000260323:p.Leu1902Phe		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L1902F	ENST00000260323.11	37	c.5704	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001562	0.54254	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.19669	2.13;2.13;2.13	5.59	4.68	0.58851	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.136236	0.47093	D	0.000248	T	0.42063	0.1186	M	0.74258	2.255	0.44380	D	0.997285	D	0.58268	0.982	P	0.62740	0.906	T	0.35201	-0.9798	10	0.62326	D	0.03	.	10.8484	0.46757	0.134:0.6136:0.2523:0.0	.	1902	Q8NB66	UN13C_HUMAN	F	1902;1902;1900	ENSP00000260323:L1902F;ENSP00000438156:L1902F;ENSP00000442569:L1900F	ENSP00000260323:L1902F	L	+	1	0	UNC13C	52626219	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	1.289000	0.33307	1.373000	0.46208	-0.226000	0.12346	CTC	UNC13C	-	pfam_Munc13_subgr_dom-2		0.284	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	C	NM_173166		54838927	+1	no_errors	ENST00000260323	ensembl	human	known	70_37	missense	SNP	1.000	T
UNKL	64718	genome.wustl.edu	37	16	1455945	1455945	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:1455945T>G	ENST00000389221.4	-	3	287				UNKL_ENST00000508903.2_Intron|UNKL_ENST00000503648.1_Intron|UNKL_ENST00000301712.5_Intron|LA16c-312E8.2_ENST00000568554.1_RNA|UNKL_ENST00000397462.1_Missense_Mutation_p.E170D	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CCTTAACACATTCTCGAGACT	0.602																																																	0																																										SO:0001627	intron_variant	64718			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.288-2600A>C	16.37:g.1455945T>G			B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E170D	ENST00000389221.4	37	c.510	CCDS53981.1	16	.	.	.	.	.	.	.	.	.	.	T	4.372	0.068604	0.08436	.	.	ENSG00000059145	ENST00000397462	.	.	.	0.763	0.763	0.18459	.	.	.	.	.	T	0.22781	0.0550	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23154	-1.0196	5	0.27082	T	0.32	.	3.7875	0.08705	0.0:0.0:0.0:1.0	.	.	.	.	D	170	.	ENSP00000380604:E170D	E	-	3	2	UNKL	1395946	0.000000	0.05858	0.004000	0.12327	0.175000	0.22909	0.039000	0.13884	0.585000	0.29608	0.172000	0.16884	GAA	UNKL	-	NULL		0.602	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding		T	NM_001037125		1455945	-1	no_errors	ENST00000397462	ensembl	human	known	70_37	missense	SNP	0.004	G
UPF3B	65109	genome.wustl.edu	37	X	118975126	118975126	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:118975126C>A	ENST00000276201.2	-	7	789	c.720G>T	c.(718-720)gaG>gaT	p.E240D	UPF3B_ENST00000345865.2_Missense_Mutation_p.E240D|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	240	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						tttttcgtttctcttcttctt	0.338																																																	0													273.0	211.0	232.0					X																	118975126		2203	4300	6503	SO:0001583	missense	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.720G>T	X.37:g.118975126C>A	ENSP00000276201:p.Glu240Asp		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.E240D	ENST00000276201.2	37	c.720	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	C	9.571	1.120917	0.20877	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.79845	-1.26;-1.31	4.64	2.8	0.32819	.	0.204155	0.50627	D	0.000115	T	0.74711	0.3752	L	0.45352	1.415	0.40101	D	0.976377	B;D	0.58268	0.27;0.982	B;P	0.48552	0.059;0.581	T	0.70510	-0.4852	10	0.42905	T	0.14	.	6.3003	0.21109	0.0:0.65:0.0:0.35	.	240;240	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	D	240	ENSP00000276201:E240D;ENSP00000245418:E240D	ENSP00000276201:E240D	E	-	3	2	UPF3B	118859154	0.924000	0.31332	0.998000	0.56505	0.886000	0.51366	-0.082000	0.11304	0.315000	0.23110	0.538000	0.68166	GAG	UPF3B	-	NULL		0.338	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	C			118975126	-1	no_errors	ENST00000276201	ensembl	human	known	70_37	missense	SNP	1.000	A
UPK1A	11045	genome.wustl.edu	37	19	36164350	36164350	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:36164350A>C	ENST00000222275.2	+	4	371	c.371A>C	c.(370-372)aAc>aCc	p.N124T	UPK1A_ENST00000379013.2_Missense_Mutation_p.N124T|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	124					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGTGTCCAACCCATCCCTG	0.667																																																	0													51.0	48.0	49.0					19																	36164350		2203	4300	6503	SO:0001583	missense	11045			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.371A>C	19.37:g.36164350A>C	ENSP00000222275:p.Asn124Thr		Q3KNU5|Q3KNU6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.N124T	ENST00000222275.2	37	c.371	CCDS12470.1	19	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472044	0.26423	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.78481	-1.18;-1.18	5.54	0.849	0.18972	Tetraspanin, EC2 domain (1);	0.336884	0.28420	N	0.015417	T	0.63745	0.2537	L	0.44542	1.39	0.32356	N	0.557842	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.53690	-0.8403	10	0.17369	T	0.5	-0.1142	7.2348	0.26064	0.6399:0.2235:0.1366:0.0	.	124;124	O00322-2;O00322	.;UPK1A_HUMAN	T	124	ENSP00000222275:N124T;ENSP00000368298:N124T	ENSP00000222275:N124T	N	+	2	0	UPK1A	40856190	0.982000	0.34865	0.980000	0.43619	0.707000	0.40811	0.823000	0.27366	-0.544000	0.06232	-1.139000	0.01908	AAC	UPK1A	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.667	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A	HGNC	protein_coding	OTTHUMT00000109486.3	A			36164350	+1	no_errors	ENST00000379013	ensembl	human	known	70_37	missense	SNP	0.987	C
UQCRB	7381	genome.wustl.edu	37	8	97245436	97245436	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:97245436C>A	ENST00000287022.5	-	2	142	c.39G>T	c.(37-39)tgG>tgT	p.W13C	UQCRB_ENST00000517523.1_5'UTR|UQCRB_ENST00000523920.1_Missense_Mutation_p.W13C|KB-1043D8.6_ENST00000520575.1_RNA|UQCRB_ENST00000518406.1_Missense_Mutation_p.W13C	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	13					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TACCATCCAGCCACTTGCCTG	0.358																																																	0													127.0	117.0	120.0					8																	97245436		2203	4300	6503	SO:0001583	missense	7381			X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"""Mitochondrial respiratory chain complex / Complex III"""	12582	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VI"", ""cytochrome b-c1 complex subunit 7"""	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.39G>T	8.37:g.97245436C>A	ENSP00000287022:p.Trp13Cys		E5RJU0|Q6FGD1	Missense_Mutation	SNP	pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa	p.W13C	ENST00000287022.5	37	c.39	CCDS6269.1	8	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647836	0.29336	.	.	ENSG00000156467	ENST00000287022;ENST00000518406;ENST00000523920	T;T;T	0.42900	0.96;0.96;0.96	4.78	4.78	0.61160	.	0.157969	0.46145	D	0.000308	T	0.59169	0.2174	M	0.71206	2.165	0.49915	D	0.999832	D	0.58970	0.984	P	0.57960	0.83	T	0.62431	-0.6856	10	0.54805	T	0.06	-9.661	16.1748	0.81844	0.0:1.0:0.0:0.0	.	13	P14927	QCR7_HUMAN	C	13	ENSP00000287022:W13C;ENSP00000430494:W13C;ENSP00000430560:W13C	ENSP00000287022:W13C	W	-	3	0	UQCRB	97314612	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	2.336000	0.43938	2.509000	0.84616	0.655000	0.94253	TGG	UQCRB	-	pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa		0.358	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRB	HGNC	protein_coding	OTTHUMT00000379863.1	C	NM_006294		97245436	-1	no_errors	ENST00000521036	ensembl	human	known	70_37	missense	SNP	1.000	A
URB2	9816	genome.wustl.edu	37	1	229771669	229771669	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:229771669G>A	ENST00000258243.2	+	4	1445	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	437						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGCGTGGATCGATGCCGAGGT	0.502																																																	0													72.0	81.0	78.0					1																	229771669		2203	4300	6503	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1309G>A	1.37:g.229771669G>A	ENSP00000258243:p.Asp437Asn		Q5VYC9	Missense_Mutation	SNP	pfam_Urb2/Npa2_C	p.D437N	ENST00000258243.2	37	c.1309	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025693	0.54683	.	.	ENSG00000135763	ENST00000258243	T	0.32515	1.45	5.35	5.35	0.76521	.	0.213846	0.48286	D	0.000192	T	0.31606	0.0802	M	0.64997	1.995	0.45366	D	0.998357	D	0.58620	0.983	B	0.40285	0.325	T	0.11299	-1.0593	9	.	.	.	-20.3294	14.3214	0.66489	0.0:0.0:0.8517:0.1483	.	437	Q14146	URB2_HUMAN	N	437	ENSP00000258243:D437N	.	D	+	1	0	URB2	227838292	1.000000	0.71417	0.966000	0.40874	0.914000	0.54420	4.019000	0.57181	2.684000	0.91462	0.650000	0.86243	GAT	URB2	-	NULL		0.502	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	G	NM_014777		229771669	+1	no_errors	ENST00000258243	ensembl	human	known	70_37	missense	SNP	0.980	A
UROC1	131669	genome.wustl.edu	37	3	126217012	126217012	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:126217012G>T	ENST00000290868.2	-	14	1373	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E	UROC1_ENST00000383579.3_Missense_Mutation_p.D500E	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	440					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)		GGGAGAATATGTCCCTGCAAG	0.642																																																	0													130.0	139.0	136.0					3																	126217012		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.1320C>A	3.37:g.126217012G>T	ENSP00000290868:p.Asp440Glu		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.D440E	ENST00000290868.2	37	c.1320	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	G	9.475	1.096575	0.20552	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.42900	0.96;0.96	4.4	1.34	0.21922	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.86573	2.825	0.58432	D	0.999999	D;D	0.60160	0.972;0.987	P;D	0.67382	0.721;0.951	T	0.58769	-0.7578	10	0.87932	D	0	-2.082	4.926	0.13894	0.2142:0.1774:0.6083:0.0	.	500;440	E9PE13;Q96N76	.;HUTU_HUMAN	E	440;500	ENSP00000290868:D440E;ENSP00000373073:D500E	ENSP00000290868:D440E	D	-	3	2	UROC1	127699702	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.874000	0.39568	0.313000	0.23062	-0.339000	0.08088	GAC	UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase		0.642	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	G	NM_144639		126217012	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	missense	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216019310	216019310	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:216019310C>T	ENST00000307340.3	-	45	9297	c.8911G>A	c.(8911-8913)Gac>Aac	p.D2971N	USH2A_ENST00000366943.2_Missense_Mutation_p.D2971N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2971	Fibronectin type-III 16. {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)		TTTAGAGAGTCGTTTGAGGTA	0.398										HNSCC(13;0.011)																																							0													97.0	95.0	96.0					1																	216019310		2203	4300	6503	SO:0001583	missense	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.8911G>A	1.37:g.216019310C>T	ENSP00000305941:p.Asp2971Asn		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D2971N	ENST00000307340.3	37	c.8911	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669615	0.29693	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57907	0.37;0.37	5.91	4.99	0.66335	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.460550	0.18186	N	0.148971	T	0.28167	0.0695	N	0.04508	-0.205	0.21064	N	0.999792	B	0.14012	0.009	B	0.08055	0.003	T	0.06698	-1.0812	10	0.32370	T	0.25	.	9.0375	0.36296	0.0:0.8403:0.0:0.1597	.	2971	O75445	USH2A_HUMAN	N	2971	ENSP00000305941:D2971N;ENSP00000355910:D2971N	ENSP00000305941:D2971N	D	-	1	0	USH2A	214085933	0.952000	0.32445	0.983000	0.44433	0.860000	0.49131	1.787000	0.38704	2.793000	0.96121	0.655000	0.94253	GAC	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216019310	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.905	T
USH2A	7399	genome.wustl.edu	37	1	216246615	216246615	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:216246615T>G	ENST00000307340.3	-	28	5986	c.5600A>C	c.(5599-5601)aAa>aCa	p.K1867T	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.K1867T|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1867	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CCGTGTAAATTTAACATCCTT	0.443										HNSCC(13;0.011)																																							0													71.0	59.0	63.0					1																	216246615		2203	4300	6503	SO:0001583	missense	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.5600A>C	1.37:g.216246615T>G	ENSP00000305941:p.Lys1867Thr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.K1867T	ENST00000307340.3	37	c.5600	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232433	0.39498	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78126	-1.15;-1.15	5.93	2.36	0.29203	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.287562	0.24352	N	0.039261	T	0.68696	0.3029	M	0.62723	1.935	0.23076	N	0.998338	B	0.19445	0.036	B	0.20767	0.031	T	0.51647	-0.8679	10	0.14252	T	0.57	.	6.9895	0.24748	0.0:0.1382:0.1554:0.7064	.	1867	O75445	USH2A_HUMAN	T	1867	ENSP00000305941:K1867T;ENSP00000355910:K1867T	ENSP00000305941:K1867T	K	-	2	0	USH2A	214313238	0.980000	0.34600	0.053000	0.19242	0.993000	0.82548	0.671000	0.25172	0.145000	0.18977	0.533000	0.62120	AAA	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	T	NM_007123		216246615	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.993	G
USP10	9100	genome.wustl.edu	37	16	84793794	84793794	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:84793794C>T	ENST00000219473.7	+	8	1580	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	USP10_ENST00000570191.1_Silent_p.I493I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	489	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAGATAAAATCGTGAGGGATA	0.418																																																	0													44.0	40.0	41.0					16																	84793794		1860	4099	5959	SO:0001819	synonymous_variant	9100			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1467C>T	16.37:g.84793794C>T			B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19	p.I493	ENST00000219473.7	37	c.1479	CCDS45537.1	16																																																																																			USP10	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.418	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	HGNC	protein_coding	OTTHUMT00000433660.1	C			84793794	+1	no_errors	ENST00000570191	ensembl	human	known	70_37	silent	SNP	0.043	T
USP12	219333	genome.wustl.edu	37	13	27649460	27649460	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:27649460T>A	ENST00000282344.6	-	7	1056	c.800A>T	c.(799-801)cAa>cTa	p.Q267L		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	267	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TCGATGAAGTTGATCCATATA	0.328																																					Ovarian(37;808 911 7590 44442 44991)												0													58.0	56.0	57.0					13																	27649460		2203	4300	6503	SO:0001583	missense	219333			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.800A>T	13.37:g.27649460T>A	ENSP00000282344:p.Gln267Leu		A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q267L	ENST00000282344.6	37	c.800	CCDS31952.1	13	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983408	0.53827	.	.	ENSG00000152484	ENST00000282344	T	0.33438	1.41	5.57	5.57	0.84162	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	M	0.78049	2.395	0.80722	D	1	P	0.45768	0.866	P	0.46208	0.507	T	0.51379	-0.8713	10	0.72032	D	0.01	-20.9123	16.0278	0.80555	0.0:0.0:0.0:1.0	.	267	O75317	UBP12_HUMAN	L	267	ENSP00000282344:Q267L	ENSP00000282344:Q267L	Q	-	2	0	USP12	26547460	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	7.867000	0.87062	2.247000	0.74100	0.477000	0.44152	CAA	USP12	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.328	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP12	HGNC	protein_coding	OTTHUMT00000044264.1	T	NM_182488		27649460	-1	no_errors	ENST00000282344	ensembl	human	known	70_37	missense	SNP	1.000	A
USP15	9958	genome.wustl.edu	37	12	62784715	62784715	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:62784715T>G	ENST00000280377.5	+	15	1974	c.1916T>G	c.(1915-1917)aTt>aGt	p.I639S	USP15_ENST00000353364.3_Missense_Mutation_p.I610S|USP15_ENST00000393654.3_Missense_Mutation_p.I614S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	639	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GACCAAAATATTAATGGGAAT	0.348																																					Melanoma(181;615 2041 39364 49691 50001)												0													72.0	70.0	70.0					12																	62784715		2203	4300	6503	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1916T>G	12.37:g.62784715T>G	ENSP00000280377:p.Ile639Ser		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.I639S	ENST00000280377.5	37	c.1916	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	T	7.713	0.695572	0.15106	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.18657	2.2;2.2;2.2	5.7	5.7	0.88788	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.340618	0.28977	N	0.013530	T	0.12987	0.0315	N	0.10760	0.04	0.46954	D	0.999261	B;B	0.27286	0.174;0.004	B;B	0.30943	0.122;0.004	T	0.21827	-1.0234	9	.	.	.	-10.8446	15.959	0.79914	0.0:0.0:0.0:1.0	.	639;610	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	S	610;639;614	ENSP00000258123:I610S;ENSP00000280377:I639S;ENSP00000377264:I614S	.	I	+	2	0	USP15	61070982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.842000	0.75379	2.172000	0.68678	0.377000	0.23210	ATT	USP15	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	T	NM_006313		62784715	+1	no_errors	ENST00000280377	ensembl	human	known	70_37	missense	SNP	1.000	G
USP15	9958	genome.wustl.edu	37	12	62798351	62798351	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:62798351T>G	ENST00000280377.5	+	0	3200				USP15_ENST00000353364.3_3'UTR|USP15_ENST00000393654.3_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15						BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AATTGTCTCTTAATACATTTA	0.289																																					Melanoma(181;615 2041 39364 49691 50001)												0																																										SO:0001624	3_prime_UTR_variant	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.*196T>G	12.37:g.62798351T>G			Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	RNA	SNP	-	NULL	ENST00000280377.5	37	NULL	CCDS58251.1	12																																																																																			USP15	-	-		0.289	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	T	NM_006313		62798351	+1	no_errors	ENST00000552346	ensembl	human	known	70_37	rna	SNP	1.000	G
USP24	23358	genome.wustl.edu	37	1	55569602	55569602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:55569602C>A	ENST00000294383.6	-	42	4971	c.4972G>T	c.(4972-4974)Gaa>Taa	p.E1658*	USP24_ENST00000407756.1_Nonsense_Mutation_p.E1498*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1658					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GAAAGCAGTTCTTTTATAATA	0.388																																																	0													58.0	56.0	57.0					1																	55569602		1833	4085	5918	SO:0001587	stop_gained	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4972G>T	1.37:g.55569602C>A	ENSP00000294383:p.Glu1658*		Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.E1658*	ENST00000294383.6	37	c.4972	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	44	11.147591	0.99522	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	18.7818	0.91937	0.0:1.0:0.0:0.0	.	.	.	.	X	1658;1498	.	ENSP00000294383:E1658X	E	-	1	0	USP24	55342190	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.408000	0.80041	2.878000	0.98634	0.650000	0.86243	GAA	USP24	-	superfamily_ARM-type_fold		0.388	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	C			55569602	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	nonsense	SNP	1.000	A
USP24	23358	genome.wustl.edu	37	1	55624561	55624561	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:55624561G>T	ENST00000294383.6	-	10	1216	c.1217C>A	c.(1216-1218)tCt>tAt	p.S406Y	USP24_ENST00000407756.1_Missense_Mutation_p.S294Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	406					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTCTTTGAGAGAATTCATCTT	0.363																																																	0													64.0	61.0	62.0					1																	55624561		1855	4091	5946	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1217C>A	1.37:g.55624561G>T	ENSP00000294383:p.Ser406Tyr		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.S406Y	ENST00000294383.6	37	c.1217	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798825	0.90538	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.67171	-0.25;1.1	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75295	0.3830	L	0.40543	1.245	0.58432	D	0.999997	D	0.65815	0.995	P	0.60886	0.88	T	0.76761	-0.2840	10	0.87932	D	0	.	19.9089	0.97019	0.0:0.0:1.0:0.0	.	294	B7WPF4	.	Y	406;294	ENSP00000294383:S406Y;ENSP00000385700:S294Y	ENSP00000294383:S406Y	S	-	2	0	USP24	55397149	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.605000	0.98321	2.709000	0.92574	0.591000	0.81541	TCT	USP24	-	superfamily_ARM-type_fold		0.363	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	G			55624561	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	missense	SNP	1.000	T
USP25	29761	genome.wustl.edu	37	21	17246834	17246834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr21:17246834G>T	ENST00000285679.6	+	22	3157	c.2788G>T	c.(2788-2790)Gaa>Taa	p.E930*	USP25_ENST00000285681.2_Nonsense_Mutation_p.E962*|USP25_ENST00000351097.5_Nonsense_Mutation_p.E325*|USP25_ENST00000400183.2_Nonsense_Mutation_p.E1000*	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	930					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTATAGAAGAGAATGTTTGCT	0.338																																																	0													152.0	158.0	156.0					21																	17246834		2203	4298	6501	SO:0001587	stop_gained	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2788G>T	21.37:g.17246834G>T	ENSP00000285679:p.Glu930*		C0LSZ0|Q6DHZ9|Q9H9W1	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.E1000*	ENST00000285679.6	37	c.2998	CCDS33515.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.004546|8.004546	0.98605|0.98605	.|.	.|.	ENSG00000155313|ENSG00000155313	ENST00000449491|ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.187589|0.187589	0.56097|0.56097	D|D	0.000040|0.000040	T|.	0.48169|.	0.1485|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37430|.	-0.9706|.	4|.	.|0.02654	.|T	.|1	.|.	19.8549|19.8549	0.96755|0.96755	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	228|962;930;325;1000	.|.	.|ENSP00000285679:E930X	E|E	+|+	3|1	2|0	USP25|USP25	16168705|16168705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	5.894000|5.894000	0.69806|0.69806	2.699000|2.699000	0.92147|0.92147	0.460000|0.460000	0.39030|0.39030	GAG|GAA	USP25	-	NULL		0.338	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP25	HGNC	protein_coding	OTTHUMT00000157964.1	G			17246834	+1	no_errors	ENST00000400183	ensembl	human	known	70_37	nonsense	SNP	1.000	T
USP26	83844	genome.wustl.edu	37	X	132161383	132161383	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:132161383A>G	ENST00000511190.1	-	6	1335	c.866T>C	c.(865-867)tTt>tCt	p.F289S	USP26_ENST00000370832.1_Missense_Mutation_p.F289S|USP26_ENST00000406273.1_Missense_Mutation_p.F289S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	289					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTTCTCTGGAAATAATTCAAA	0.373																																					NSCLC(104;342 1621 36940 47097 52632)												0													38.0	38.0	38.0					X																	132161383		2201	4295	6496	SO:0001583	missense	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.866T>C	X.37:g.132161383A>G	ENSP00000423390:p.Phe289Ser		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.F289S	ENST00000511190.1	37	c.866	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	A	9.851	1.193632	0.22037	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.54071	0.59;0.59;0.59	4.01	0.168	0.15012	.	1.252190	0.06188	N	0.680859	T	0.35799	0.0944	N	0.22421	0.69	0.09310	N	1	B	0.31009	0.303	B	0.33620	0.167	T	0.26395	-1.0104	10	0.31617	T	0.26	-0.4821	2.9256	0.05783	0.4525:0.1231:0.0:0.4244	.	289	Q9BXU7	UBP26_HUMAN	S	289	ENSP00000359869:F289S;ENSP00000423390:F289S;ENSP00000384360:F289S	ENSP00000359869:F289S	F	-	2	0	USP26	131989049	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.374000	0.07484	-0.074000	0.12820	-0.657000	0.03884	TTT	USP26	-	NULL		0.373	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	A	NM_031907		132161383	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	missense	SNP	0.001	G
USP31	57478	genome.wustl.edu	37	16	23117742	23117742	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:23117742C>A	ENST00000219689.7	-	3	837	c.838G>T	c.(838-840)Gaa>Taa	p.E280*		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	211	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGAAAGAGTTCTTGTACAAAA	0.393																																																	0													79.0	72.0	74.0					16																	23117742		2197	4300	6497	SO:0001587	stop_gained	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.838G>T	16.37:g.23117742C>A	ENSP00000219689:p.Glu280*		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E280*	ENST00000219689.7	37	c.838	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.198221	0.97367	.	.	ENSG00000103404	ENST00000219689	.	.	.	5.5	5.5	0.81552	.	0.060510	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.2333	18.7494	0.91807	0.0:1.0:0.0:0.0	.	.	.	.	X	280	.	ENSP00000219689:E280X	E	-	1	0	USP31	23025243	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.582000	0.67477	2.743000	0.94032	0.643000	0.83706	GAA	USP31	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.393	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	C	NM_020718		23117742	-1	no_errors	ENST00000219689	ensembl	human	known	70_37	nonsense	SNP	1.000	A
USP53	54532	genome.wustl.edu	37	4	120188514	120188514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:120188514C>T	ENST00000274030.6	+	13	2191	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	USP53_ENST00000450251.1_Nonsense_Mutation_p.R338*	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CAAATGCATTCGATGCCACTT	0.383																																																	0													115.0	108.0	110.0					4																	120188514		1935	4145	6080	SO:0001587	stop_gained	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1012C>T	4.37:g.120188514C>T	ENSP00000274030:p.Arg338*			Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R338*	ENST00000274030.6	37	c.1012	CCDS43265.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.201720	0.94997	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	.	.	.	6.02	5.1	0.69264	.	0.179588	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3892	16.0834	0.81020	0.2194:0.7806:0.0:0.0	.	.	.	.	X	338	.	ENSP00000274030:R338X	R	+	1	2	USP53	120407962	0.942000	0.31987	0.943000	0.38184	0.920000	0.55202	2.716000	0.47219	2.865000	0.98341	0.655000	0.94253	CGA	USP53	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.383	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	C	XM_052597		120188514	+1	no_errors	ENST00000274030	ensembl	human	known	70_37	nonsense	SNP	0.947	T
USP8	9101	genome.wustl.edu	37	15	50788052	50788052	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:50788052A>C	ENST00000396444.3	+	17	3004	c.2666A>C	c.(2665-2667)aAt>aCt	p.N889T	USP8_ENST00000433963.1_Missense_Mutation_p.N889T|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Missense_Mutation_p.N889T|USP8_ENST00000425032.3_Missense_Mutation_p.N783T|RP11-562A8.4_ENST00000560380.1_RNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	889	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CAGGCTGATAATCGGAAGAGA	0.308																																																	0													22.0	22.0	22.0					15																	50788052		2196	4263	6459	SO:0001583	missense	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2666A>C	15.37:g.50788052A>C	ENSP00000379721:p.Asn889Thr		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.N889T	ENST00000396444.3	37	c.2666	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299358	0.60195	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.23	5.23	0.72850	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.054638	0.64402	D	0.000001	T	0.22820	0.0551	N	0.21508	0.67	0.80722	D	1	B;B	0.25007	0.116;0.001	B;B	0.22152	0.038;0.007	T	0.03651	-1.1016	10	0.33141	T	0.24	-28.4628	15.4116	0.74929	1.0:0.0:0.0:0.0	.	783;889	B4DKA8;P40818	.;UBP8_HUMAN	T	889;889;889;783;116;111	ENSP00000379721:N889T;ENSP00000405537:N889T;ENSP00000302239:N889T;ENSP00000412682:N783T	ENSP00000302239:N889T	N	+	2	0	USP8	48575344	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.989000	0.76219	2.099000	0.63709	0.528000	0.53228	AAT	USP8	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.308	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	A	NM_005154		50788052	+1	no_errors	ENST00000307179	ensembl	human	known	70_37	missense	SNP	1.000	C
USP9X	8239	genome.wustl.edu	37	X	41055534	41055534	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:41055534C>A	ENST00000324545.8	+	27	4641	c.4008C>A	c.(4006-4008)ttC>ttA	p.F1336L	USP9X_ENST00000378308.2_Missense_Mutation_p.F1336L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1336					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGGAGCAGTTCTTTTTAATGT	0.353																																					Ovarian(172;1807 2695 35459 49286)												0													166.0	158.0	161.0					X																	41055534		2203	4300	6503	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4008C>A	X.37:g.41055534C>A	ENSP00000316357:p.Phe1336Leu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.F1336L	ENST00000324545.8	37	c.4008	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	C	8.560	0.877655	0.17395	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.52983	0.64;0.64	5.18	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	N	0.26042	0.785	0.50632	D	0.999888	B;B	0.28291	0.206;0.078	B;B	0.32533	0.147;0.038	T	0.08554	-1.0716	10	0.02654	T	1	.	9.5731	0.39440	0.0:0.7624:0.0:0.2376	.	1336;1336	Q93008-1;Q93008	.;USP9X_HUMAN	L	1336	ENSP00000367558:F1336L;ENSP00000316357:F1336L	ENSP00000316357:F1336L	F	+	3	2	USP9X	40940478	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.412000	0.34714	1.088000	0.41272	-0.295000	0.09555	TTC	USP9X	-	NULL		0.353	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	C	NM_004652		41055534	+1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A
UTP20	27340	genome.wustl.edu	37	12	101674919	101674919	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:101674919G>A	ENST00000261637.4	+	2	245	c.71G>A	c.(70-72)gGg>gAg	p.G24E		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	24					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAACGACTGGGGAATGTTAAT	0.318																																																	0													80.0	81.0	81.0					12																	101674919		2203	4299	6502	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.71G>A	12.37:g.101674919G>A	ENSP00000261637:p.Gly24Glu		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.G24E	ENST00000261637.4	37	c.71	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587391	0.66105	.	.	ENSG00000120800	ENST00000261637	T	0.15487	2.42	4.9	4.0	0.46444	.	0.281880	0.33161	N	0.005202	T	0.11239	0.0274	N	0.19112	0.55	0.30843	N	0.735422	P	0.40144	0.704	B	0.41860	0.368	T	0.04855	-1.0922	10	0.02654	T	1	-15.5395	13.8002	0.63194	0.0:0.2928:0.7072:0.0	.	24	O75691	UTP20_HUMAN	E	24	ENSP00000261637:G24E	ENSP00000261637:G24E	G	+	2	0	UTP20	100199050	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.290000	0.65661	1.033000	0.39918	0.655000	0.94253	GGG	UTP20	-	NULL		0.318	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	G	NM_014503		101674919	+1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	0.998	A
UTP20	27340	genome.wustl.edu	37	12	101683923	101683924	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:101683923_101683924insA	ENST00000261637.4	+	7	780_781	c.606_607insA	c.(607-609)aaafs	p.K203fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	203					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGGTCTCTGATAAAAACGCACT	0.287																																																	0																																										SO:0001589	frameshift_variant	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.611dupA	12.37:g.101683928_101683928dupA	ENSP00000261637:p.Lys203fs		Q9H3H4	Frame_Shift_Ins	INS	pfam_DRIM,superfamily_ARM-type_fold	p.N203fs	ENST00000261637.4	37	c.606_607	CCDS9081.1	12																																																																																			UTP20	-	superfamily_ARM-type_fold		0.287	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	-	NM_014503		101683924	+1	no_errors	ENST00000261637	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
UTRN	7402	genome.wustl.edu	37	6	144724303	144724303	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:144724303A>C	ENST00000367545.3	+	2	124	c.124A>C	c.(124-126)Aat>Cat	p.N42H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	42	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAAATGGATAAATGCTCGATT	0.373																																																	0													79.0	76.0	77.0					6																	144724303		2202	4300	6502	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.124A>C	6.37:g.144724303A>C	ENSP00000356515:p.Asn42His		Q5SYY1|Q5SZ57|Q9UJ40	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,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.N42H	ENST00000367545.3	37	c.124	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874874	0.51695	.	.	ENSG00000152818	ENST00000433557;ENST00000367529;ENST00000367545;ENST00000421035	D;D;D	0.98192	-4.78;-4.78;-4.78	5.48	5.48	0.80851	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.53938	D	0.000052	D	0.99272	0.9746	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98911	1.0780	10	0.87932	D	0	.	14.8543	0.70323	1.0:0.0:0.0:0.0	.	42	P46939	UTRO_HUMAN	H	42;42;42;47	ENSP00000390879:N42H;ENSP00000356515:N42H;ENSP00000396276:N47H	ENSP00000356499:N42H	N	+	1	0	UTRN	144765996	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.728000	0.74769	2.204000	0.70986	0.528000	0.53228	AAT	UTRN	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain		0.373	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	A			144724303	+1	no_errors	ENST00000367545	ensembl	human	known	70_37	missense	SNP	1.000	C
VAMP5	10791	genome.wustl.edu	37	2	85818882	85818882	+	Missense_Mutation	SNP	C	C	T	rs200377485		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:85818882C>T	ENST00000306384.4	+	2	121	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	13	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						CAGCAGCAGGCGAACGAGGTG	0.602																																																	0													127.0	108.0	115.0					2																	85818882		2203	4300	6503	SO:0001583	missense	10791			AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.38C>T	2.37:g.85818882C>T	ENSP00000305647:p.Ala13Val		Q9P0T2	Missense_Mutation	SNP	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin	p.A13V	ENST00000306384.4	37	c.38	CCDS1980.1	2	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944551	0.34283	.	.	ENSG00000168899	ENST00000306384	T	0.30182	1.54	4.84	4.84	0.62591	Synaptobrevin (3);	0.088276	0.45126	D	0.000398	T	0.23532	0.0569	N	0.01686	-0.76	0.36802	D	0.885393	D	0.89917	1.0	D	0.87578	0.998	T	0.17137	-1.0379	10	0.02654	T	1	.	13.4194	0.60987	0.0:1.0:0.0:0.0	.	13	O95183	VAMP5_HUMAN	V	13	ENSP00000305647:A13V	ENSP00000305647:A13V	A	+	2	0	VAMP5	85672393	0.984000	0.35163	0.956000	0.39512	0.971000	0.66376	2.815000	0.48018	2.240000	0.73641	0.561000	0.74099	GCG	VAMP5	-	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin		0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP5	HGNC	protein_coding	OTTHUMT00000252484.2	C	NM_006634		85818882	+1	no_errors	ENST00000306384	ensembl	human	known	70_37	missense	SNP	0.980	T
VAV2	7410	genome.wustl.edu	37	9	136641167	136641167	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:136641167G>T	ENST00000371850.3	-	24	2032	c.2001C>A	c.(1999-2001)gaC>gaA	p.D667E	VAV2_ENST00000371851.1_Missense_Mutation_p.D657E|VAV2_ENST00000406606.3_Missense_Mutation_p.D657E	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	667					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ATGCAGTGTAGTCGATCTCCC	0.652																																																	0													93.0	85.0	87.0					9																	136641167		2203	4300	6503	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2001C>A	9.37:g.136641167G>T	ENSP00000360916:p.Asp667Glu		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.D667E	ENST00000371850.3	37	c.2001	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	G	9.808	1.182313	0.21870	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.63580	-0.05;0.12;0.23	4.28	3.36	0.38483	.	0.103387	0.64402	D	0.000005	T	0.54078	0.1836	L	0.60455	1.87	0.50313	D	0.999869	B;B;B	0.29627	0.005;0.252;0.005	B;B;B	0.25884	0.048;0.064;0.048	T	0.53507	-0.8429	10	0.45353	T	0.12	.	9.6322	0.39787	0.1002:0.0:0.8998:0.0	.	657;667;657	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	E	667;657;657;657	ENSP00000360916:D667E;ENSP00000360917:D657E;ENSP00000385362:D657E	ENSP00000317258:D657E	D	-	3	2	VAV2	135630988	1.000000	0.71417	0.991000	0.47740	0.093000	0.18481	4.715000	0.61909	0.953000	0.37825	0.655000	0.94253	GAC	VAV2	-	NULL		0.652	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	G			136641167	-1	no_errors	ENST00000371850	ensembl	human	known	70_37	missense	SNP	1.000	T
VCAN	1462	genome.wustl.edu	37	5	82815884	82815884	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:82815884G>T	ENST00000265077.3	+	7	2324	c.1759G>T	c.(1759-1761)Gaa>Taa	p.E587*	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Nonsense_Mutation_p.E587*|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Nonsense_Mutation_p.E539*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	587	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAAGACTTCAGAAGACACCAT	0.413																																																	0													119.0	118.0	119.0					5																	82815884		2203	4300	6503	SO:0001587	stop_gained	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1759G>T	5.37:g.82815884G>T	ENSP00000265077:p.Glu587*		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E587*	ENST00000265077.3	37	c.1759	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.502093	0.98322	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	.	.	.	5.87	5.0	0.66597	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.5297	0.67915	0.0:0.146:0.854:0.0	.	.	.	.	X	587;587;539	.	ENSP00000265077:E587X	E	+	1	0	VCAN	82851640	1.000000	0.71417	0.977000	0.42913	0.256000	0.26092	3.203000	0.51075	1.481000	0.48307	0.655000	0.94253	GAA	VCAN	-	NULL		0.413	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82815884	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	nonsense	SNP	0.993	T
VCAN	1462	genome.wustl.edu	37	5	82834583	82834583	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:82834583A>C	ENST00000265077.3	+	8	6326	c.5761A>C	c.(5761-5763)Ata>Cta	p.I1921L	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.I934L|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1921	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGGGGCAGAAATAAGGGGCTT	0.408																																																	0													96.0	102.0	100.0					5																	82834583		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5761A>C	5.37:g.82834583A>C	ENSP00000265077:p.Ile1921Leu		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.I1921L	ENST00000265077.3	37	c.5761	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	A	4.569	0.105647	0.08780	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.85702	-2.01;-2.02;3.08	5.9	-0.809	0.10864	.	0.548054	0.19075	N	0.123395	T	0.72095	0.3418	L	0.42245	1.32	0.09310	N	0.999998	B;B	0.14438	0.004;0.01	B;B	0.12156	0.007;0.005	T	0.53767	-0.8392	10	0.26408	T	0.33	.	1.8701	0.03207	0.3843:0.1725:0.3229:0.1202	.	934;1921	P13611-2;P13611	.;CSPG2_HUMAN	L	1921;934;934	ENSP00000265077:I1921L;ENSP00000340062:I934L;ENSP00000426251:I934L	ENSP00000265077:I1921L	I	+	1	0	VCAN	82870339	0.000000	0.05858	0.010000	0.14722	0.045000	0.14185	-0.759000	0.04761	0.173000	0.19788	0.533000	0.62120	ATA	VCAN	-	NULL		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	A	NM_004385		82834583	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.001	C
VCAN	1462	genome.wustl.edu	37	5	82849188	82849188	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:82849188G>A	ENST00000265077.3	+	11	10064	c.9499G>A	c.(9499-9501)Gag>Aag	p.E3167K	VCAN_ENST00000502527.2_Missense_Mutation_p.E426K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.E1413K|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E2180K|VCAN_ENST00000512590.2_Missense_Mutation_p.E1365K|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3167					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTCAGATACCGAGACATGTGA	0.493																																																	0													108.0	96.0	100.0					5																	82849188		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9499G>A	5.37:g.82849188G>A	ENSP00000265077:p.Glu3167Lys		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E3167K	ENST00000265077.3	37	c.9499	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432261	0.83776	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	6.06	6.06	0.98353	C-type lectin-like (1);	0.000000	0.64402	D	0.000006	T	0.33440	0.0863	N	0.25825	0.765	0.54753	D	0.999988	D;D;P;D	0.89917	1.0;0.999;0.929;1.0	D;P;P;D	0.91635	0.997;0.868;0.868;0.999	T	0.02411	-1.1163	10	0.62326	D	0.03	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1413;426;2180;3167	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	K	3167;2180;1413;1365;426	ENSP00000265077:E3167K;ENSP00000340062:E2180K;ENSP00000342768:E1413K;ENSP00000425959:E1365K;ENSP00000421362:E426K	ENSP00000265077:E3167K	E	+	1	0	VCAN	82884944	1.000000	0.71417	0.970000	0.41538	0.371000	0.29859	5.517000	0.67061	2.882000	0.98803	0.655000	0.94253	GAG	VCAN	-	NULL		0.493	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82849188	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	1.000	A
VCL	7414	genome.wustl.edu	37	10	75834615	75834615	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:75834615G>A	ENST00000211998.4	+	6	831	c.737G>A	c.(736-738)cGt>cAt	p.R246H	VCL_ENST00000372755.3_Missense_Mutation_p.R246H|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	246	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GAGATAATTCGTGTGTTACAA	0.403																																																	0													86.0	89.0	88.0					10																	75834615		2203	4300	6503	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.737G>A	10.37:g.75834615G>A	ENSP00000211998:p.Arg246His		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.R246H	ENST00000211998.4	37	c.737	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.497093	0.96355	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043	T;T	0.41400	1.0;1.0	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.981;0.988	T	0.73075	-0.4097	10	0.87932	D	0	.	20.0895	0.97812	0.0:0.0:1.0:0.0	.	246;246	P18206-2;P18206	.;VINC_HUMAN	H	246;246;153;173	ENSP00000361841:R246H;ENSP00000211998:R246H	ENSP00000211998:R246H	R	+	2	0	VCL	75504621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.741000	0.93983	0.650000	0.86243	CGT	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.403	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		G	NM_003373, NM_014000		75834615	+1	no_errors	ENST00000211998	ensembl	human	known	70_37	missense	SNP	1.000	A
VILL	50853	genome.wustl.edu	37	3	38045873	38045873	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:38045873C>A	ENST00000283713.6	+	16	2199	c.1933C>A	c.(1933-1935)Ctg>Atg	p.L645M	VILL_ENST00000383759.2_Missense_Mutation_p.L645M|VILL_ENST00000465644.1_Missense_Mutation_p.L363M			O15195	VILL_HUMAN	villin-like	645					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CATCATGTTACTGGACACCTG	0.567											OREG0015475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78.0	68.0	72.0					3																	38045873		2203	4300	6503	SO:0001583	missense	50853				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1933C>A	3.37:g.38045873C>A	ENSP00000283713:p.Leu645Met	875	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.L645M	ENST00000283713.6	37	c.1933	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579523	0.65878	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.70516	-0.49;-0.49;-0.49	3.65	2.76	0.32466	Gelsolin domain (1);	0.000000	0.64402	D	0.000002	D	0.85478	0.5706	M	0.90922	3.16	0.45216	D	0.998229	D	0.89917	1.0	D	0.91635	0.999	D	0.87248	0.2271	10	0.87932	D	0	-14.6148	11.3379	0.49516	0.0:0.907:0.0:0.093	.	645	O15195	VILL_HUMAN	M	645;645;631;363	ENSP00000283713:L645M;ENSP00000373266:L645M;ENSP00000422096:L363M	ENSP00000283713:L645M	L	+	1	2	VILL	38020877	1.000000	0.71417	0.880000	0.34516	0.936000	0.57629	3.165000	0.50778	0.877000	0.35895	0.400000	0.26472	CTG	VILL	-	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin		0.567	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	C	NM_015873		38045873	+1	no_errors	ENST00000283713	ensembl	human	known	70_37	missense	SNP	1.000	A
VIM	7431	genome.wustl.edu	37	10	17276863	17276863	+	Intron	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:17276863C>A	ENST00000224237.5	+	5	1153				VIM_ENST00000544301.1_Intron|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin						apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGACCCATTCTGCTGACTAG	0.423																																																	0													31.0	28.0	29.0					10																	17276863		2203	4300	6503	SO:0001627	intron_variant	7431			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1008+46C>A	10.37:g.17276863C>A			B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	RNA	SNP	-	NULL	ENST00000224237.5	37	NULL	CCDS7120.1	10																																																																																			VIM	-	-		0.423	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIM	HGNC	protein_coding	OTTHUMT00000047015.1	C	NM_003380		17276863	+1	no_errors	ENST00000495528	ensembl	human	known	70_37	rna	SNP	0.000	A
VIPR2	7434	genome.wustl.edu	37	7	158851185	158851185	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:158851185G>T	ENST00000262178.2	-	5	627	c.442C>A	c.(442-444)Ctg>Atg	p.L148M	VIPR2_ENST00000402066.1_Missense_Mutation_p.L289M|VIPR2_ENST00000377633.3_Missense_Mutation_p.L132M	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	148					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AAGAGGCACAGAATTATGCTT	0.423																																					Pancreas(154;1876 1931 2329 17914 20079)												0													156.0	153.0	154.0					7																	158851185		2203	4300	6503	SO:0001583	missense	7434			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.442C>A	7.37:g.158851185G>T	ENSP00000262178:p.Leu148Met		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.L148M	ENST00000262178.2	37	c.442	CCDS5950.1	7	.	.	.	.	.	.	.	.	.	.	g	17.69	3.452070	0.63290	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.53857	0.6;0.6;0.6	5.7	4.8	0.61643	GPCR, family 2-like (1);	0.139662	0.32687	N	0.005773	T	0.64649	0.2617	M	0.80508	2.5	0.80722	D	1	P	0.37548	0.599	P	0.48454	0.578	T	0.65005	-0.6273	9	.	.	.	.	11.6588	0.51334	0.0:0.0:0.8161:0.1839	.	148	P41587	VIPR2_HUMAN	M	148;132;289	ENSP00000262178:L148M;ENSP00000366860:L132M;ENSP00000384497:L289M	.	L	-	1	2	VIPR2	158543946	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.413000	0.44618	1.352000	0.45808	0.651000	0.88453	CTG	VIPR2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.423	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR2	HGNC	protein_coding	OTTHUMT00000322675.1	G	NM_003382		158851185	-1	no_errors	ENST00000262178	ensembl	human	known	70_37	missense	SNP	1.000	T
VIT	5212	genome.wustl.edu	37	2	36982179	36982179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:36982179G>T	ENST00000389975.3	+	5	693	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	VIT_ENST00000457137.2_Nonsense_Mutation_p.E131*|VIT_ENST00000379242.3_Nonsense_Mutation_p.E131*|VIT_ENST00000404084.1_Nonsense_Mutation_p.E109*|VIT_ENST00000401530.1_Nonsense_Mutation_p.E131*|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Nonsense_Mutation_p.E131*	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	131	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.E131K(2)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACGATGGAGAGAATCCTTTAT	0.438																																																	2	Substitution - Missense(2)	endometrium(2)											134.0	115.0	122.0					2																	36982179		2203	4300	6503	SO:0001587	stop_gained	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.391G>T	2.37:g.36982179G>T	ENSP00000374625:p.Glu131*		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Nonsense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.E131*	ENST00000389975.3	37	c.391	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.406910	0.97542	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	.	.	.	5.63	5.63	0.86233	.	0.158940	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-20.9853	19.3046	0.94155	0.0:0.0:1.0:0.0	.	.	.	.	X	131;131;131;131;109;131;131	.	ENSP00000368543:E131X	E	+	1	0	VIT	36835683	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.834000	0.86773	2.652000	0.90054	0.655000	0.94253	GAA	VIT	-	pfam_LCCL,superfamily_LCCL,pfscan_LCCL		0.438	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		G			36982179	+1	no_errors	ENST00000379242	ensembl	human	known	70_37	nonsense	SNP	1.000	T
VNN3	55350	genome.wustl.edu	37	6	133045825	133045825	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:133045825A>G	ENST00000207771.3	-	6	1192	c.1120T>C	c.(1120-1122)Tct>Cct	p.S374P	VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000417437.2_3'UTR			Q9NY84	VNN3_HUMAN	vanin 3	375					nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		CGCTTCTCAGACATCTTGTAA	0.383																																																	0													36.0	35.0	35.0					6																	133045825		876	1991	2867	SO:0001583	missense	55350			AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000207771.3:c.1120T>C	6.37:g.133045825A>G	ENSP00000440594:p.Ser374Pro		B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.S374P	ENST00000207771.3	37	c.1120		6	.	.	.	.	.	.	.	.	.	.	A	12.41	1.930686	0.34096	.	.	ENSG00000093134	ENST00000207771	D	0.88354	-2.37	4.88	3.62	0.41486	.	0.385300	0.22876	U	0.054579	T	0.71879	0.3392	.	.	.	0.80722	D	1	B	0.19935	0.04	B	0.18561	0.022	T	0.71217	-0.4658	9	0.37606	T	0.19	-48.2098	6.256	0.20874	0.5875:0.1194:0.0:0.293	.	375	Q9NY84	VNN3_HUMAN	P	374	ENSP00000440594:S374P	ENSP00000440594:S374P	S	-	1	0	VNN3	133087518	0.803000	0.28956	1.000000	0.80357	0.479000	0.33129	0.127000	0.15790	1.956000	0.56807	0.477000	0.44152	TCT	VNN3	-	pirsf_Biotinidase_euk		0.383	VNN3-201	KNOWN	basic|appris_principal	protein_coding	VNN3	HGNC	protein_coding		A	NR_028290		133045825	-1	no_errors	ENST00000207771	ensembl	human	known	70_37	missense	SNP	0.991	G
VPS13A	23230	genome.wustl.edu	37	9	79875040	79875040	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:79875040G>A	ENST00000360280.3	+	23	2587	c.2327G>A	c.(2326-2328)cGa>cAa	p.R776Q	VPS13A_ENST00000376636.3_Missense_Mutation_p.R776Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.R776Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.R776Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	776					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTTCTTTACGAATCTCAGAT	0.303																																																	0													46.0	46.0	46.0					9																	79875040		2203	4297	6500	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2327G>A	9.37:g.79875040G>A	ENSP00000353422:p.Arg776Gln		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.R776Q	ENST00000360280.3	37	c.2327	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084933	0.36758	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.47	2.51	0.30379	.	0.420138	0.24472	N	0.038235	T	0.23846	0.0577	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.23058	0.013;0.047;0.079;0.079	B;B;B;B	0.16722	0.002;0.004;0.016;0.01	T	0.05225	-1.0898	10	0.28530	T	0.3	.	4.3397	0.11105	0.3045:0.0:0.5424:0.1531	.	776;776;776;776	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	776	ENSP00000365821:R776Q;ENSP00000365823:R776Q;ENSP00000353422:R776Q;ENSP00000349985:R776Q	ENSP00000349985:R776Q	R	+	2	0	VPS13A	79064860	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.189000	0.32114	0.631000	0.30412	0.591000	0.81541	CGA	VPS13A	-	NULL		0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79875040	+1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	0.996	A
VPS13A	23230	genome.wustl.edu	37	9	79999526	79999526	+	Intron	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:79999526T>G	ENST00000360280.3	+	68	9449				VPS13A_ENST00000376636.3_Intron|VPS13A_ENST00000357409.5_Missense_Mutation_p.I3072S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGGAGTGGATTATGACTCAC	0.338																																																	0													188.0	185.0	186.0					9																	79999526		2203	4299	6502	SO:0001627	intron_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9189+2523T>G	9.37:g.79999526T>G			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.I3072S	ENST00000360280.3	37	c.9215	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	T	12.39	1.922778	0.33908	.	.	ENSG00000197969	ENST00000357409	T	0.41400	1.0	5.63	3.09	0.35607	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	T	0.08659	-1.0711	7	.	.	.	.	2.1757	0.03862	0.1695:0.0891:0.1545:0.5869	.	3072	Q96RL7-2	.	S	3072	ENSP00000349985:I3072S	.	I	+	2	0	VPS13A	79189346	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.360000	0.34125	1.027000	0.39758	-0.438000	0.05819	ATT	VPS13A	-	NULL		0.338	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	T	NM_015186		79999526	+1	no_errors	ENST00000357409	ensembl	human	known	70_37	missense	SNP	1.000	G
VPS13B	157680	genome.wustl.edu	37	8	100523692	100523692	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:100523692A>C	ENST00000358544.2	+	29	4771	c.4660A>C	c.(4660-4662)Atc>Ctc	p.I1554L	VPS13B_ENST00000357162.2_Missense_Mutation_p.I1529L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1554					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACAAGTGTAATCAGAATTTT	0.343																																					Colon(161;2205 2542 7338 31318)												0													32.0	32.0	32.0					8																	100523692		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4660A>C	8.37:g.100523692A>C	ENSP00000351346:p.Ile1554Leu		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.I1554L	ENST00000358544.2	37	c.4660	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310793	0.60414	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70869	-0.49;-0.52	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.80939	0.4720	L	0.60455	1.87	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.985	D;D;D	0.72625	0.978;0.978;0.952	T	0.79374	-0.1830	10	0.34782	T	0.22	.	15.8462	0.78895	1.0:0.0:0.0:0.0	.	1553;1529;1554	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	L	1529;1554	ENSP00000349685:I1529L;ENSP00000351346:I1554L	ENSP00000349685:I1529L	I	+	1	0	VPS13B	100592868	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	9.027000	0.93706	2.202000	0.70862	0.477000	0.44152	ATC	VPS13B	-	NULL		0.343	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	A	NM_184042		100523692	+1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS39	23339	genome.wustl.edu	37	15	42455913	42455913	+	Silent	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:42455913T>C	ENST00000348544.4	-	21	2072	c.2073A>G	c.(2071-2073)gaA>gaG	p.E691E	VPS39_ENST00000318006.5_Silent_p.E680E			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	691					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GGAGAGCTCGTTCTTCTAAGA	0.512																																																	0													57.0	43.0	48.0					15																	42455913		2203	4299	6502	SO:0001819	synonymous_variant	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2073A>G	15.37:g.42455913T>C			O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.E691	ENST00000348544.4	37	c.2073	CCDS10083.1	15																																																																																			VPS39	-	NULL		0.512	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	T	NM_015289		42455913	-1	no_errors	ENST00000348544	ensembl	human	known	70_37	silent	SNP	0.855	C
VPS39	23339	genome.wustl.edu	37	15	42457228	42457228	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:42457228A>G	ENST00000348544.4	-	19	1895	c.1896T>C	c.(1894-1896)ggT>ggC	p.G632G	VPS39_ENST00000318006.5_Silent_p.G621G			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	632					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCTTCATCAGACCTTGCACCT	0.542																																																	0													180.0	147.0	158.0					15																	42457228		2203	4299	6502	SO:0001819	synonymous_variant	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1896T>C	15.37:g.42457228A>G			O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.G632	ENST00000348544.4	37	c.1896	CCDS10083.1	15																																																																																			VPS39	-	NULL		0.542	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	A	NM_015289		42457228	-1	no_errors	ENST00000348544	ensembl	human	known	70_37	silent	SNP	0.217	G
VPS13C	54832	genome.wustl.edu	37	15	62204064	62204064	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:62204064T>G	ENST00000261517.5	-	63	8763	c.8690A>C	c.(8689-8691)aAa>aCa	p.K2897T	VPS13C_ENST00000249837.3_Missense_Mutation_p.K2854T|VPS13C_ENST00000395898.3_Missense_Mutation_p.K2854T|RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395896.4_Missense_Mutation_p.K2897T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATAGTTCCATTTATTAGTTGG	0.328																																																	0													84.0	81.0	82.0					15																	62204064		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8690A>C	15.37:g.62204064T>G	ENSP00000261517:p.Lys2897Thr			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.K2897T	ENST00000261517.5	37	c.8690	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	T	18.62	3.664048	0.67700	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.31510	1.49;1.49;1.49	5.7	5.7	0.88788	Vacuolar protein sorting-associated protein (1);	0.098515	0.64402	D	0.000002	T	0.39517	0.1081	M	0.63428	1.95	0.53688	D	0.99997	B;B;P;B;P	0.42123	0.34;0.34;0.729;0.34;0.771	B;B;B;B;P	0.45276	0.171;0.171;0.236;0.237;0.475	T	0.13656	-1.0501	10	0.34782	T	0.22	.	15.9666	0.79979	0.0:0.0:0.0:1.0	.	2897;2854;2897;2854;2897	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	T	2854;2897;2897;2897	ENSP00000249837:K2854T;ENSP00000261517:K2897T;ENSP00000379233:K2897T	ENSP00000249837:K2854T	K	-	2	0	VPS13C	59991356	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	2.802000	0.47916	2.174000	0.68829	0.482000	0.46254	AAA	VPS13C	-	pfam_VPSAP		0.328	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	T	NM_017684		62204064	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	1.000	G
VWA3B	200403	genome.wustl.edu	37	2	98861919	98861919	+	Intron	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:98861919G>A	ENST00000477737.1	+	20	2877				VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCAGACTCGAAGTGTGGGG	0.438																																																	0																																										SO:0001627	intron_variant	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2674-4862G>A	2.37:g.98861919G>A			B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	RNA	SNP	-	NULL	ENST00000477737.1	37	NULL	CCDS42718.1	2																																																																																			VWA3B	-	-		0.438	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	G	NM_144992		98861919	+1	no_errors	ENST00000490947	ensembl	human	known	70_37	rna	SNP	0.000	A
VWA5A	4013	genome.wustl.edu	37	11	123989239	123989239	+	Splice_Site	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:123989239G>T	ENST00000456829.2	+	6	720		c.e6-1		VWA5A_ENST00000360334.4_Splice_Site|VWA5A_ENST00000392744.4_Splice_Site|VWA5A_ENST00000361352.5_Splice_Site|VWA5A_ENST00000392748.1_Splice_Site|VWA5A_ENST00000449321.1_Splice_Site	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A											autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATCTTTTATAGGGTCGTCTAA	0.443																																																	0													148.0	150.0	150.0					11																	123989239		2201	4299	6500	SO:0001630	splice_region_variant	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.470-1G>T	11.37:g.123989239G>T			Q6UN19|Q6UN20|Q9BVF8	Splice_Site	SNP	-	e4-1	ENST00000456829.2	37	c.470-1	CCDS8444.1	11	.	.	.	.	.	.	.	.	.	.	G	9.874	1.199698	0.22121	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.52099	D	0.999944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9322	0.70923	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA5A	123494449	0.995000	0.38212	0.040000	0.18447	0.002000	0.02628	4.848000	0.62874	2.595000	0.87683	0.650000	0.86243	.	VWA5A	-	-		0.443	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	HGNC	protein_coding	OTTHUMT00000387273.1	G	NM_014622	Intron	123989239	+1	no_errors	ENST00000392748	ensembl	human	known	70_37	splice_site	SNP	0.101	T
VWA5B2	90113	genome.wustl.edu	37	3	183955029	183955029	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:183955029C>T	ENST00000426955.2	+	11	1649	c.1549C>T	c.(1549-1551)Cgg>Tgg	p.R517W	EIF2B5_ENST00000444495.1_Intron|VWA5B2_ENST00000273794.5_Missense_Mutation_p.R298W	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	528	VWFA.									breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						ACAGGCTCTGCGGAAGGCACT	0.602																																																	0													42.0	40.0	40.0					3																	183955029		692	1591	2283	SO:0001583	missense	90113				CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.1549C>T	3.37:g.183955029C>T	ENSP00000398688:p.Arg517Trp		B9EGN7	Missense_Mutation	SNP	NULL	p.R517W	ENST00000426955.2	37	c.1549	CCDS54686.1	3	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775070	0.70107	.	.	ENSG00000145198	ENST00000426955;ENST00000273794	T;T	0.19105	2.84;2.17	5.2	2.14	0.27477	von Willebrand factor, type A (1);	0.162704	0.28841	N	0.013976	T	0.38054	0.1026	L	0.55481	1.735	0.39964	D	0.974706	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69654	0.965;0.952;0.965	T	0.33777	-0.9855	10	0.87932	D	0	-8.262	12.9419	0.58350	0.6498:0.3502:0.0:0.0	.	298;517;528	E9PF42;B9EGN7;Q8N398	.;.;VW5B2_HUMAN	W	517;298	ENSP00000398688:R517W;ENSP00000273794:R298W	ENSP00000273794:R298W	R	+	1	2	VWA5B2	185437723	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.774000	0.47694	0.656000	0.30886	-0.397000	0.06425	CGG	VWA5B2	-	NULL		0.602	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5B2	HGNC	protein_coding	OTTHUMT00000346004.2	C	XM_291077		183955029	+1	no_errors	ENST00000426955	ensembl	human	known	70_37	missense	SNP	1.000	T
VWA8	23078	genome.wustl.edu	37	13	42277492	42277492	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:42277492T>G	ENST00000379310.3	-	27	3240	c.3172A>C	c.(3172-3174)Agt>Cgt	p.S1058R		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1058						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TGCATCCCACTTCTTGCCTGA	0.353																																																	0													113.0	108.0	110.0					13																	42277492		1860	4111	5971	SO:0001583	missense	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3172A>C	13.37:g.42277492T>G	ENSP00000368612:p.Ser1058Arg		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.S1058R	ENST00000379310.3	37	c.3172	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621646	0.28889	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.10099	2.91	5.55	1.74	0.24563	.	0.216680	0.46145	D	0.000318	T	0.06050	0.0157	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40040	-0.9584	10	0.19590	T	0.45	.	6.8092	0.23794	0.0:0.134:0.128:0.738	.	1058	A3KMH1	K0564_HUMAN	R	962;1058	ENSP00000368612:S1058R	ENSP00000251030:S962R	S	-	1	0	KIAA0564	41175492	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	1.943000	0.40253	0.135000	0.18707	-0.313000	0.08912	AGT	VWA8	-	NULL		0.353	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	T	NM_015058		42277492	-1	no_errors	ENST00000379310	ensembl	human	known	70_37	missense	SNP	1.000	G
VWA9	81556	genome.wustl.edu	37	15	65888144	65888144	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:65888144A>C	ENST00000395644.4	-	7	1103	c.768T>G	c.(766-768)ttT>ttG	p.F256L	VWA9_ENST00000567744.1_Missense_Mutation_p.F292L|VWA9_ENST00000313182.2_Missense_Mutation_p.F256L|VWA9_ENST00000420799.2_Missense_Mutation_p.F199L|VWA9_ENST00000442903.3_Missense_Mutation_p.F220L|VWA9_ENST00000569491.1_Missense_Mutation_p.F207L|VWA9_ENST00000431261.2_Missense_Mutation_p.F177L			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	256																	CTATATCAATAAATCCCACTA	0.348																																																	0													78.0	75.0	76.0					15																	65888144		2201	4299	6500	SO:0001583	missense	81556			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.768T>G	15.37:g.65888144A>C	ENSP00000379006:p.Phe256Leu		B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	NULL	p.F292L	ENST00000395644.4	37	c.876		15	.	.	.	.	.	.	.	.	.	.	A	22.7	4.318640	0.81469	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.96	2.18	0.27775	.	0.000000	0.85682	D	0.000000	T	0.76198	0.3954	M	0.81802	2.56	0.58432	D	0.999996	D;D;D;D	0.76494	0.996;0.999;0.999;0.999	D;D;D;D	0.83275	0.99;0.996;0.994;0.994	T	0.75616	-0.3256	9	0.87932	D	0	-18.8652	8.7275	0.34478	0.5763:0.0:0.4237:0.0	.	207;220;292;256	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	L	256;256;177;199;220	.	ENSP00000326379:F256L	F	-	3	2	C15orf44	63675197	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.828000	0.39111	0.410000	0.25675	0.533000	0.62120	TTT	VWA9	-	NULL		0.348	VWA9-201	KNOWN	basic|appris_principal	protein_coding	VWA9	HGNC	protein_coding	OTTHUMT00000420604.3	A	NM_030800		65888144	-1	no_errors	ENST00000567744	ensembl	human	known	70_37	missense	SNP	1.000	C
VWF	7450	genome.wustl.edu	37	12	6138539	6138539	+	Missense_Mutation	SNP	C	C	A	rs267607312		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:6138539C>A	ENST00000261405.5	-	22	3190	c.2936G>T	c.(2935-2937)aGc>aTc	p.S979I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	979	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACGGAGATGCTCAGGTGGCG	0.552																																																	0													149.0	137.0	141.0					12																	6138539		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2936G>T	12.37:g.6138539C>A	ENSP00000261405:p.Ser979Ile		Q8TCE8|Q99806	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.S979I	ENST00000261405.5	37	c.2936	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	6.721	0.501717	0.12822	.	.	ENSG00000110799	ENST00000261405	T	0.60672	0.17	4.58	-8.36	0.00980	von Willebrand factor, type D domain (3);	1.454950	0.04831	N	0.438814	T	0.54319	0.1851	M	0.72894	2.215	0.09310	N	0.999999	B	0.17465	0.022	B	0.21917	0.037	T	0.49485	-0.8935	10	0.45353	T	0.12	.	12.3276	0.55020	0.296:0.2048:0.4992:0.0	.	979	P04275	VWF_HUMAN	I	979	ENSP00000261405:S979I	ENSP00000261405:S979I	S	-	2	0	VWF	6008800	0.004000	0.15560	0.000000	0.03702	0.070000	0.16714	0.124000	0.15728	-1.918000	0.01072	-0.494000	0.04653	AGC	VWF	-	pfam_VWF_type-D,smart_VWF_type-D,pirsf_VWF		0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	C	NM_000552		6138539	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	missense	SNP	0.001	A
WDFY1	57590	genome.wustl.edu	37	2	224746785	224746785	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:224746785T>G	ENST00000233055.4	-	10	1040	c.938A>C	c.(937-939)cAc>cCc	p.H313P		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	313						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TTTCCTGCAGTGATGCTTCAC	0.532																																																	0													157.0	160.0	159.0					2																	224746785		2203	4300	6503	SO:0001583	missense	57590			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.938A>C	2.37:g.224746785T>G	ENSP00000233055:p.His313Pro		Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H313P	ENST00000233055.4	37	c.938	CCDS33387.1	2	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486419	0.84854	.	.	ENSG00000085449	ENST00000233055	D	0.81499	-1.5	5.9	5.9	0.94986	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	H	0.99454	4.575	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95436	0.8521	10	0.33141	T	0.24	-30.9946	16.3322	0.83039	0.0:0.0:0.0:1.0	.	313	Q8IWB7	WDFY1_HUMAN	P	313	ENSP00000233055:H313P	ENSP00000233055:H313P	H	-	2	0	WDFY1	224455029	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.694000	0.84235	2.251000	0.74343	0.528000	0.53228	CAC	WDFY1	-	pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.532	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY1	HGNC	protein_coding	OTTHUMT00000330908.1	T	NM_020830		224746785	-1	no_errors	ENST00000233055	ensembl	human	known	70_37	missense	SNP	1.000	G
WDFY3	23001	genome.wustl.edu	37	4	85594031	85594031	+	Missense_Mutation	SNP	C	C	T	rs199672909		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:85594031C>T	ENST00000295888.4	-	68	10978	c.10571G>A	c.(10570-10572)cGa>cAa	p.R3524Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R3507Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3524	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R3524Q(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAACAATTTCGAGGCCCATC	0.458																																																	1	Substitution - Missense(1)	lung(1)						C	GLN/ARG	0,4406		0,0,2203	137.0	131.0	133.0		10571	3.6	1.0	4		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDFY3	NM_014991.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3524/3527	85594031	1,13005	2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.10571G>A	4.37:g.85594031C>T	ENSP00000295888:p.Arg3524Gln		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R3524Q	ENST00000295888.4	37	c.10571	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124146	0.56613	0.0	1.16E-4	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.67865	-0.29;-0.29	5.76	3.64	0.41730	.	0.060203	0.64402	D	0.000005	T	0.52468	0.1736	N	0.22421	0.69	0.41127	D	0.985856	B	0.10296	0.003	B	0.04013	0.001	T	0.54207	-0.8328	10	0.66056	D	0.02	.	13.157	0.59522	0.0:0.8554:0.0:0.1446	.	3524	Q8IZQ1	WDFY3_HUMAN	Q	3507;3524	ENSP00000318466:R3507Q;ENSP00000295888:R3524Q	ENSP00000295888:R3524Q	R	-	2	0	WDFY3	85813055	1.000000	0.71417	0.954000	0.39281	0.995000	0.86356	3.497000	0.53295	1.366000	0.46076	0.655000	0.94253	CGA	WDFY3	-	NULL		0.458	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	C	NM_014991		85594031	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	0.977	T
WDFY3	23001	genome.wustl.edu	37	4	85623529	85623529	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:85623529A>G	ENST00000295888.4	-	56	8980	c.8573T>C	c.(8572-8574)tTc>tCc	p.F2858S	WDFY3_ENST00000322366.6_Missense_Mutation_p.F2841S	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2858	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTGGAATTGAACAGGAATTC	0.403																																																	0													104.0	111.0	109.0					4																	85623529		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8573T>C	4.37:g.85623529A>G	ENSP00000295888:p.Phe2858Ser		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F2858S	ENST00000295888.4	37	c.8573	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	A	13.64	2.297056	0.40694	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.79141	-1.24;-1.24;-1.24	5.86	5.86	0.93980	BEACH domain (4);	0.052828	0.85682	D	0.000000	T	0.54062	0.1835	N	0.02247	-0.625	0.48830	D	0.99971	B	0.02656	0.0	B	0.01281	0.0	T	0.55704	-0.8099	10	0.10111	T	0.7	.	16.2507	0.82485	1.0:0.0:0.0:0.0	.	2858	Q8IZQ1	WDFY3_HUMAN	S	2841;2858;461	ENSP00000318466:F2841S;ENSP00000295888:F2858S;ENSP00000424987:F461S	ENSP00000295888:F2858S	F	-	2	0	WDFY3	85842553	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.323000	0.79105	2.237000	0.73441	0.528000	0.53228	TTC	WDFY3	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.403	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	A	NM_014991		85623529	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	1.000	G
WDFY3	23001	genome.wustl.edu	37	4	85696122	85696122	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:85696122C>A	ENST00000295888.4	-	29	5012	c.4605G>T	c.(4603-4605)aaG>aaT	p.K1535N	WDFY3_ENST00000322366.6_Missense_Mutation_p.K1535N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1535					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.K1535N(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATTTGGCATTCTTTGAGGCTT	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											115.0	124.0	121.0					4																	85696122		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4605G>T	4.37:g.85696122C>A	ENSP00000295888:p.Lys1535Asn		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1535N	ENST00000295888.4	37	c.4605	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622178	0.28889	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.49432	0.78;0.78	5.33	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	N	0.19112	0.55	0.80722	D	1	B	0.17038	0.02	B	0.12837	0.008	T	0.07751	-1.0756	10	0.24483	T	0.36	.	11.2267	0.48888	0.0:0.8553:0.0:0.1447	.	1535	Q8IZQ1	WDFY3_HUMAN	N	1535	ENSP00000318466:K1535N;ENSP00000295888:K1535N	ENSP00000295888:K1535N	K	-	3	2	WDFY3	85915146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.000000	0.40816	2.650000	0.89964	0.655000	0.94253	AAG	WDFY3	-	NULL		0.353	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	C	NM_014991		85696122	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	1.000	A
WDFY4	57705	genome.wustl.edu	37	10	50014048	50014048	+	Splice_Site	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:50014048G>T	ENST00000325239.5	+	26	4673		c.e26-1		WDFY4_ENST00000413659.2_Intron	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4							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						TGTGTATAAAGGATTGGGCTG	0.567																																																	0													191.0	159.0	169.0					10																	50014048		692	1591	2283	SO:0001630	splice_region_variant	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.4647-1G>T	10.37:g.50014048G>T			B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Splice_Site	SNP	-	e26-1	ENST00000325239.5	37	c.4647-1	CCDS44385.1	10	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384386	0.42308	.	.	ENSG00000128815	ENST00000426033;ENST00000325239;ENST00000312002;ENST00000374161	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4466	0.83936	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDFY4	49684054	1.000000	0.71417	0.561000	0.28357	0.388000	0.30384	5.931000	0.70113	2.558000	0.86282	0.655000	0.94253	.	WDFY4	-	-		0.567	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		G	XM_033379	Intron	50014048	+1	no_errors	ENST00000325239	ensembl	human	known	70_37	splice_site	SNP	0.998	T
WDR26	80232	genome.wustl.edu	37	1	224612233	224612233	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:224612233G>T	ENST00000414423.2	-	4	944	c.751C>A	c.(751-753)Cat>Aat	p.H251N	WDR26_ENST00000295024.6_Missense_Mutation_p.H104N|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	251						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CTAAGAACATGAATGCGCTCT	0.403																																																	0													107.0	96.0	100.0					1																	224612233		2203	4300	6503	SO:0001583	missense	80232			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.751C>A	1.37:g.224612233G>T	ENSP00000408108:p.His251Asn		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H251N	ENST00000414423.2	37	c.751	CCDS31037.2	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719050	0.89205	.	.	ENSG00000162923	ENST00000414423;ENST00000295024;ENST00000445239	T;T	0.71341	-0.56;-0.26	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	M	0.85041	2.73	0.80722	D	1	P;P	0.49961	0.93;0.708	P;B	0.45881	0.496;0.269	T	0.80591	-0.1314	10	0.42905	T	0.14	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	251;235	Q9H7D7;Q9H7D7-2	WDR26_HUMAN;.	N	251;104;104	ENSP00000408108:H251N;ENSP00000295024:H104N	ENSP00000295024:H104N	H	-	1	0	WDR26	222678856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.814000	0.96858	0.655000	0.94253	CAT	WDR26	-	NULL		0.403	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	HGNC	protein_coding	OTTHUMT00000091760.2	G	NM_025160		224612233	-1	no_errors	ENST00000414423	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR33	55339	genome.wustl.edu	37	2	128471326	128471326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:128471326G>A	ENST00000322313.4	-	18	3297	c.3139C>T	c.(3139-3141)Cga>Tga	p.R1047*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1047					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGCCCCCTCGCCTCCACTTC	0.647																																																	0													78.0	81.0	80.0					2																	128471326		2203	4300	6503	SO:0001587	stop_gained	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3139C>T	2.37:g.128471326G>A	ENSP00000325377:p.Arg1047*		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1047*	ENST00000322313.4	37	c.3139	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	43	9.980487	0.99309	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0131	20.0726	0.97729	0.0:0.0:1.0:0.0	.	.	.	.	X	1047	.	ENSP00000325377:R1047X	R	-	1	2	WDR33	128187796	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.513000	0.67037	2.738000	0.93877	0.655000	0.94253	CGA	WDR33	-	NULL		0.647	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	G	NM_018383		128471326	-1	no_errors	ENST00000322313	ensembl	human	known	70_37	nonsense	SNP	1.000	A
WDR41	55255	genome.wustl.edu	37	5	76734176	76734176	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:76734176G>T	ENST00000296679.4	-	10	1268	c.893C>A	c.(892-894)gCt>gAt	p.A298D	WDR41_ENST00000512033.1_5'Flank|WDR41_ENST00000414719.2_Missense_Mutation_p.A44D|WDR41_ENST00000507029.1_Missense_Mutation_p.A243D	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	298						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCCAACTGCAGCAAATACATT	0.458																																																	0													100.0	89.0	93.0					5																	76734176		2203	4300	6503	SO:0001583	missense	55255			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.893C>A	5.37:g.76734176G>T	ENSP00000296679:p.Ala298Asp		B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A298D	ENST00000296679.4	37	c.893	CCDS4038.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.044559|4.044559	0.75732|0.75732	.|.	.|.	ENSG00000164253|ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029;ENST00000507654;ENST00000511791|ENST00000511630	T;T;T;T;T;T|.	0.68025|.	-0.3;-0.3;-0.3;-0.3;-0.16;1.9|.	5.75|5.75	3.94|3.94	0.45596|0.45596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.174825|.	0.49916|.	D|.	0.000132|.	T|T	0.61198|0.61198	0.2328|0.2328	L|L	0.55481|0.55481	1.735|1.735	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P|.	0.43909|.	0.821;0.821;0.747|.	P;P;B|.	0.48189|.	0.57;0.57;0.303|.	T|T	0.57545|0.57545	-0.7793|-0.7793	10|5	0.87932|.	D|.	0|.	-5.5247|-5.5247	11.4513|11.4513	0.50154|0.50154	0.148:0.0:0.852:0.0|0.148:0.0:0.852:0.0	.|.	243;44;298|.	B4DT55;B4E2L4;Q9HAD4|.	.;.;WDR41_HUMAN|.	D|M	298;44;233;243;69;90|124	ENSP00000296679:A298D;ENSP00000392931:A44D;ENSP00000426499:A233D;ENSP00000424287:A243D;ENSP00000427291:A69D;ENSP00000423540:A90D|.	ENSP00000296679:A298D|.	A|L	-|-	2|1	0|2	WDR41|WDR41	76769932|76769932	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.388000|4.388000	0.59633|0.59633	0.857000|0.857000	0.35407|0.35407	0.650000|0.650000	0.86243|0.86243	GCT|CTG	WDR41	-	superfamily_WD40_repeat_dom		0.458	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR41	HGNC	protein_coding	OTTHUMT00000220014.2	G	NM_018268		76734176	-1	no_errors	ENST00000296679	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR45	11152	genome.wustl.edu	37	X	48934313	48934313	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48934313C>T	ENST00000376372.3	-	5	513	c.332G>A	c.(331-333)cGc>cAc	p.R111H	WDR45_ENST00000376368.2_Missense_Mutation_p.R112H|WDR45_ENST00000485908.1_Missense_Mutation_p.R76H|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000356463.3_Missense_Mutation_p.R112H|PRAF2_ENST00000491199.1_5'Flank|PRAF2_ENST00000376390.4_5'Flank|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.R111H|WDR45_ENST00000473974.1_Missense_Mutation_p.R111H|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.R111H|WDR45_ENST00000465431.1_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	111					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CTTGTCATGGCGCATGCGCAC	0.622																																																	0													71.0	55.0	60.0					X																	48934313		2203	4300	6503	SO:0001583	missense	11152			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.332G>A	X.37:g.48934313C>T	ENSP00000365551:p.Arg111His		A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R111H	ENST00000376372.3	37	c.332	CCDS35250.1	X	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051479	0.55218	.	.	ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000465382	T;T;T;T;T;T;T;T;T;T;T;T	0.81163	-0.03;-0.03;-1.46;-1.46;-0.03;-1.46;-0.03;-1.46;-1.46;-1.46;-1.46;-0.03	3.87	3.87	0.44632	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	M	0.86573	2.825	0.80722	D	1	B;B;B;B;B	0.23650	0.035;0.033;0.03;0.003;0.089	B;B;B;B;B	0.22601	0.012;0.016;0.04;0.006;0.014	D	0.84239	0.0471	10	0.66056	D	0.02	-11.408	14.6194	0.68574	0.0:1.0:0.0:0.0	.	111;111;76;112;111	C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;WIPI4_HUMAN	H	111;111;112;76;111;112;111;77;136;129;76;111	ENSP00000365551:R111H;ENSP00000365543:R111H;ENSP00000348848:R112H;ENSP00000419897:R76H;ENSP00000417211:R111H;ENSP00000365546:R112H;ENSP00000379913:R111H;ENSP00000418919:R77H;ENSP00000420728:R136H;ENSP00000393640:R129H;ENSP00000419324:R76H;ENSP00000420534:R111H	ENSP00000365543:R111H	R	-	2	0	WDR45	48821257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.188000	0.77739	2.182000	0.69389	0.529000	0.55759	CGC	WDR45	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.622	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	C	NM_007075		48934313	-1	no_errors	ENST00000322995	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR45	11152	genome.wustl.edu	37	X	48935736	48935736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:48935736G>A	ENST00000376372.3	-	2	200	c.19C>T	c.(19-21)Cga>Tga	p.R7*	WDR45_ENST00000376368.2_Nonsense_Mutation_p.R7*|WDR45_ENST00000485908.1_Nonsense_Mutation_p.R7*|AF196779.12_ENST00000376358.3_Nonsense_Mutation_p.R7*|WDR45_ENST00000356463.3_Nonsense_Mutation_p.R7*|WDR45_ENST00000396681.4_Nonsense_Mutation_p.R7*|WDR45_ENST00000473974.1_Nonsense_Mutation_p.R7*|WDR45_ENST00000553851.1_Nonsense_Mutation_p.R7*|WDR45_ENST00000322995.8_Nonsense_Mutation_p.R7*|WDR45_ENST00000465431.1_5'UTR	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	7					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GTCACTCCTCGAAGTGGCTGT	0.522																																																	0													129.0	91.0	104.0					X																	48935736		2203	4300	6503	SO:0001587	stop_gained	11152			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.19C>T	X.37:g.48935736G>A	ENSP00000365551:p.Arg7*		A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R7*	ENST00000376372.3	37	c.19	CCDS35250.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.613092	0.96637	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000465382;ENST00000423215;ENST00000376358	.	.	.	3.87	3.87	0.44632	.	0.068568	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9014	12.7001	0.57026	0.0:0.0:1.0:0.0	.	.	.	.	X	7	.	ENSP00000365536:R7X	R	-	1	2	AF196779.12;WDR45	48822680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.982000	0.56909	1.872000	0.54250	0.468000	0.43344	CGA	WDR45	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.522	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	G	NM_007075		48935736	-1	no_errors	ENST00000322995	ensembl	human	known	70_37	nonsense	SNP	1.000	A
WDR60	55112	genome.wustl.edu	37	7	158662589	158662589	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:158662589A>C	ENST00000407559.3	+	2	217	c.59A>C	c.(58-60)aAa>aCa	p.K20T		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	20					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GACCTCAGAAAACATCTCTGG	0.353																																																	0													95.0	87.0	90.0					7																	158662589		1835	4088	5923	SO:0001583	missense	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.59A>C	7.37:g.158662589A>C	ENSP00000384290:p.Lys20Thr		Q9NW58	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.K20T	ENST00000407559.3	37	c.59	CCDS47757.1	7	.	.	.	.	.	.	.	.	.	.	A	9.789	1.177322	0.21787	.	.	ENSG00000126870	ENST00000407559;ENST00000397143	T;T	0.68479	1.31;-0.33	5.4	-3.06	0.05379	.	0.332809	0.31747	N	0.007131	T	0.60130	0.2245	L	0.50333	1.59	0.29466	N	0.857405	D	0.54047	0.964	P	0.47346	0.544	T	0.64202	-0.6463	10	0.72032	D	0.01	-13.791	10.9738	0.47454	0.4731:0.0:0.5269:0.0	.	20	Q8WVS4	WDR60_HUMAN	T	20;30	ENSP00000384290:K20T;ENSP00000380330:K30T	ENSP00000380330:K30T	K	+	2	0	WDR60	158355350	1.000000	0.71417	0.755000	0.31263	0.007000	0.05969	0.553000	0.23391	-0.870000	0.04047	-0.376000	0.06991	AAA	WDR60	-	NULL		0.353	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	A	NM_018051		158662589	+1	no_errors	ENST00000407559	ensembl	human	known	70_37	missense	SNP	0.883	C
CFAP57	149465	genome.wustl.edu	37	1	43719782	43719782	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:43719782A>G	ENST00000372492.4	+	23	3997	c.3673A>G	c.(3673-3675)Aca>Gca	p.T1225A		NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		1225										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAGCAGGTCACAGGGTTCCA	0.542																																																	0																																										SO:0001583	missense	149465																														ENST00000372492.4:c.3673A>G	1.37:g.43719782A>G	ENSP00000361570:p.Thr1225Ala		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1225A	ENST00000372492.4	37	c.3673		1	.	.	.	.	.	.	.	.	.	.	A	5.554	0.287130	0.10513	.	.	ENSG00000243710	ENST00000372492	T	0.35236	1.32	5.21	4.29	0.51040	.	0.761898	0.11428	N	0.565108	T	0.27832	0.0685	.	.	.	0.46774	D	0.999193	.	.	.	.	.	.	T	0.01444	-1.1353	7	0.08179	T	0.78	-4.3757	12.0425	0.53460	0.1808:0.8192:0.0:0.0	.	.	.	.	A	1225	ENSP00000361570:T1225A	ENSP00000361570:T1225A	T	+	1	0	WDR65	43492369	0.712000	0.27916	0.852000	0.33557	0.494000	0.33585	1.443000	0.35057	1.179000	0.42884	-0.459000	0.05422	ACA	WDR65	-	superfamily_Quinonprotein_ADH-like		0.542	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	A			43719782	+1	no_errors	ENST00000372492	ensembl	human	novel	70_37	missense	SNP	0.483	G
WDR76	79968	genome.wustl.edu	37	15	44120351	44120351	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:44120351G>T	ENST00000263795.6	+	2	319	c.249G>T	c.(247-249)aaG>aaT	p.K83N	WDR76_ENST00000381246.2_Missense_Mutation_p.K19N	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	83										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CGTGTAAGAAGACTAAAATAA	0.403																																																	0													73.0	75.0	74.0					15																	44120351		2198	4298	6496	SO:0001583	missense	79968			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.249G>T	15.37:g.44120351G>T	ENSP00000263795:p.Lys83Asn		A0MNP5|Q05CI4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.K83N	ENST00000263795.6	37	c.249	CCDS10106.1	15	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148624	0.37923	.	.	ENSG00000092470	ENST00000263795;ENST00000381246;ENST00000452115	D;D;T	0.85088	-1.94;-1.88;0.61	4.74	0.0968	0.14491	.	0.114794	0.39146	N	0.001443	T	0.72953	0.3525	L	0.55990	1.75	0.28262	N	0.924807	B	0.33266	0.404	B	0.21708	0.036	T	0.60969	-0.7157	10	0.32370	T	0.25	-7.3038	3.4848	0.07615	0.3161:0.0:0.5094:0.1745	.	83	Q9H967	WDR76_HUMAN	N	83;19;19	ENSP00000263795:K83N;ENSP00000370645:K19N;ENSP00000404665:K19N	ENSP00000263795:K83N	K	+	3	2	WDR76	41907643	0.840000	0.29493	0.697000	0.30258	0.824000	0.46624	0.626000	0.24492	0.234000	0.21139	0.563000	0.77884	AAG	WDR76	-	NULL		0.403	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR76	HGNC	protein_coding	OTTHUMT00000133482.2	G	NM_024908		44120351	+1	no_errors	ENST00000263795	ensembl	human	known	70_37	missense	SNP	0.466	T
WDR87	83889	genome.wustl.edu	37	19	38377309	38377309	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:38377309C>A	ENST00000303868.5	-	6	7109	c.6885G>T	c.(6883-6885)aaG>aaT	p.K2295N	WDR87_ENST00000447313.2_Missense_Mutation_p.K2334N	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2295	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						cctcctccttcttcttttcct	0.463																																																	0													196.0	162.0	172.0					19																	38377309		692	1591	2283	SO:0001583	missense	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.6885G>T	19.37:g.38377309C>A	ENSP00000368025:p.Lys2295Asn		Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K2334N	ENST00000303868.5	37	c.7002	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	C	8.767	0.925036	0.18056	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.65178	-0.14;-0.14	4.06	0.618	0.17624	.	.	.	.	.	T	0.44180	0.1281	L	0.29908	0.895	0.09310	N	1	B;B	0.33073	0.396;0.396	B;B	0.29267	0.1;0.1	T	0.18335	-1.0340	9	0.31617	T	0.26	.	8.0909	0.30801	0.0:0.7106:0.0:0.2894	.	2295;2334	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	N	2334;2295	ENSP00000405012:K2334N;ENSP00000368025:K2295N	ENSP00000368025:K2295N	K	-	3	2	WDR87	43069149	0.000000	0.05858	0.000000	0.03702	0.365000	0.29674	0.019000	0.13444	0.089000	0.17243	0.455000	0.32223	AAG	WDR87	-	superfamily_ARM-type_fold		0.463	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	C	XM_940478		38377309	-1	no_errors	ENST00000447313	ensembl	human	known	70_37	missense	SNP	0.000	A
WDR87	83889	genome.wustl.edu	37	19	38380396	38380396	+	Silent	SNP	G	G	A	rs371394187	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:38380396G>A	ENST00000303868.5	-	6	4022	c.3798C>T	c.(3796-3798)aaC>aaT	p.N1266N	WDR87_ENST00000447313.2_Silent_p.N1305N	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1266										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CTAGCTCAGCGTTTAGGTTTT	0.488													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19849	0.0		0.0	False		,,,				2504	0.001																0								G		2,1382		0,2,690	227.0	181.0	195.0		3798	-3.3	0.0	19		195	0,3182		0,0,1591	no	coding-synonymous	WDR87	NM_031951.3		0,2,2281	AA,AG,GG		0.0,0.1445,0.0438		1266/2874	38380396	2,4564	692	1591	2283	SO:0001819	synonymous_variant	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.3798C>T	19.37:g.38380396G>A			Q9BWV9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N1305	ENST00000303868.5	37	c.3915	CCDS46063.1	19																																																																																			WDR87	-	superfamily_ARM-type_fold		0.488	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	G	XM_940478		38380396	-1	no_errors	ENST00000447313	ensembl	human	known	70_37	silent	SNP	0.000	A
WHAMM	123720	genome.wustl.edu	37	15	83485560	83485560	+	Silent	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr15:83485560G>T	ENST00000286760.4	+	3	999	c.900G>T	c.(898-900)gtG>gtT	p.V300V		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	300	Mediates interaction with microtubules. {ECO:0000269|PubMed:23027905}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						ATATCACAGTGAATTATTTTA	0.363																																																	0													33.0	31.0	32.0					15																	83485560		1850	4071	5921	SO:0001819	synonymous_variant	123720			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.900G>T	15.37:g.83485560G>T			Q8N1J9	Silent	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.V300	ENST00000286760.4	37	c.900	CCDS45333.1	15																																																																																			WHAMM	-	NULL		0.363	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	G			83485560	+1	no_errors	ENST00000286760	ensembl	human	known	70_37	silent	SNP	1.000	T
WNK3	65267	genome.wustl.edu	37	X	54324668	54324668	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:54324668T>G	ENST00000375159.2	-	6	1337	c.1338A>C	c.(1336-1338)gaA>gaC	p.E446D	WNK3_ENST00000375169.3_Missense_Mutation_p.E446D|WNK3_ENST00000354646.2_Missense_Mutation_p.E446D			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	446					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATTCAATAGCTTCATTGTCTT	0.363																																																	0													215.0	189.0	198.0					X																	54324668		2203	4300	6503	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1338A>C	X.37:g.54324668T>G	ENSP00000364301:p.Glu446Asp		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E446D	ENST00000375159.2	37	c.1338	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	T	18.86	3.712837	0.68730	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.39229	1.09;1.09;1.09	5.04	5.04	0.67666	Serine/threonine-protein kinase OSR1/WNK, CCT domain (1);	0.000000	0.51477	D	0.000096	T	0.61476	0.2350	M	0.68593	2.085	0.35995	D	0.836981	D;D	0.76494	0.999;0.999	D;D	0.76071	0.978;0.987	T	0.72316	-0.4330	10	0.72032	D	0.01	-13.9631	12.8772	0.57998	0.0:0.0:0.0:1.0	.	446;446	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	D	446	ENSP00000364312:E446D;ENSP00000346667:E446D;ENSP00000364301:E446D	ENSP00000346667:E446D	E	-	3	2	WNK3	54341393	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.172000	0.31908	1.679000	0.50963	0.417000	0.27973	GAA	WNK3	-	pfam_Kinase_OSR1/WNK_CCT		0.363	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	T	NM_020922		54324668	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	missense	SNP	1.000	G
WNT5B	81029	genome.wustl.edu	37	12	1740590	1740590	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:1740590A>G	ENST00000397196.2	+	2	302	c.70A>G	c.(70-72)Aac>Gac	p.N24D	WNT5B_ENST00000542408.1_Missense_Mutation_p.N24D|WNT5B_ENST00000310594.3_Missense_Mutation_p.N24D|WNT5B_ENST00000537031.1_Missense_Mutation_p.N24D	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	24					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GACAGACGCCAACTCCTGGTG	0.647																																																	0													72.0	68.0	69.0					12																	1740590		2203	4300	6503	SO:0001583	missense	81029			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.70A>G	12.37:g.1740590A>G	ENSP00000380379:p.Asn24Asp		A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.N24D	ENST00000397196.2	37	c.70	CCDS8510.1	12	.	.	.	.	.	.	.	.	.	.	A	15.31	2.796194	0.50208	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;D;T;T;T;D;T	0.87491	-1.05;-1.73;-0.94;-0.94;-0.94;-2.26;-0.05	5.38	4.16	0.48862	.	1.656530	0.02620	N	0.103115	D	0.86690	0.5993	L	0.53249	1.67	0.46336	D	0.99899	B	0.02656	0.0	B	0.06405	0.002	T	0.66480	-0.5913	10	0.48119	T	0.1	.	12.0489	0.53495	0.856:0.144:0.0:0.0	.	24	Q9H1J7	WNT5B_HUMAN	D	24	ENSP00000438414:N24D;ENSP00000445395:N24D;ENSP00000439312:N24D;ENSP00000308887:N24D;ENSP00000380379:N24D;ENSP00000442348:N24D;ENSP00000440600:N24D	ENSP00000308887:N24D	N	+	1	0	WNT5B	1610851	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	5.561000	0.67339	2.048000	0.60808	0.454000	0.30748	AAC	WNT5B	-	NULL		0.647	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	HGNC	protein_coding	OTTHUMT00000206747.2	A			1740590	+1	no_errors	ENST00000310594	ensembl	human	known	70_37	missense	SNP	1.000	G
WT1	7490	genome.wustl.edu	37	11	32439182	32439182	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:32439182C>A	ENST00000379079.2	-	4	528	c.255G>T	c.(253-255)atG>atT	p.M85I	WT1_ENST00000448076.3_Missense_Mutation_p.M297I|WT1_ENST00000332351.3_Missense_Mutation_p.M297I|WT1_ENST00000530998.1_Missense_Mutation_p.M85I	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	229					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GCTGGGATGTCATTTGGTATA	0.358			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	0													117.0	108.0	111.0					11																	32439182		2202	4299	6501	SO:0001583	missense	7490	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.255G>T	11.37:g.32439182C>A	ENSP00000368370:p.Met85Ile		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour	p.M297I	ENST00000379079.2	37	c.891	CCDS55751.1	11	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405898	0.83230	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527775	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	6.06	6.06	0.98353	Wilm&apos (1);s tumour protein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.91570	0.7337	L	0.54323	1.7	0.58432	D	0.999999	P;D;P;P;P	0.62365	0.907;0.991;0.923;0.912;0.911	P;P;P;P;P	0.61658	0.492;0.892;0.578;0.672;0.648	D	0.89850	0.4009	10	0.42905	T	0.14	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	302;229;302;85;85	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	I	85;297;85;297;297;48	ENSP00000368370:M85I;ENSP00000331327:M297I;ENSP00000435307:M85I;ENSP00000415516:M297I;ENSP00000413452:M297I;ENSP00000435351:M48I	ENSP00000331327:M297I	M	-	3	0	WT1	32395758	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.453000	0.73488	2.880000	0.98712	0.650000	0.86243	ATG	WT1	-	pfam_Wilms_tumour_N		0.358	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	HGNC	protein_coding	OTTHUMT00000095434.1	C	NM_000378		32439182	-1	no_errors	ENST00000332351	ensembl	human	known	70_37	missense	SNP	1.000	A
WWP2	11060	genome.wustl.edu	37	16	69968006	69968006	+	Missense_Mutation	SNP	C	C	T	rs565065326		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:69968006C>T	ENST00000359154.2	+	17	1917	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	WWP2_ENST00000356003.2_Missense_Mutation_p.R606C|WWP2_ENST00000542271.1_Missense_Mutation_p.R490C|WWP2_ENST00000568684.1_Missense_Mutation_p.R167C|WWP2_ENST00000448661.1_Missense_Mutation_p.R606C|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	606	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCTACTTTCGCTTTATAGG	0.532																																																	0													107.0	107.0	107.0					16																	69968006		2198	4300	6498	SO:0001583	missense	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1816C>T	16.37:g.69968006C>T	ENSP00000352069:p.Arg606Cys		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.R606C	ENST00000359154.2	37	c.1816	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923719	0.73213	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.8	5.8	0.92144	HECT (4);	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	M	0.69358	2.11	0.80722	D	1	P	0.37525	0.598	B	0.41088	0.347	T	0.59053	-0.7526	9	.	.	.	.	14.8523	0.70306	0.1436:0.8564:0.0:0.0	.	606	O00308	WWP2_HUMAN	C	606;167;606;606;493;490	ENSP00000352069:R606C;ENSP00000396871:R606C;ENSP00000348283:R606C;ENSP00000445616:R490C	.	R	+	1	0	WWP2	68525507	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.157000	0.50716	2.735000	0.93741	0.655000	0.94253	CGC	WWP2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.532	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	C	NM_007014		69968006	+1	no_errors	ENST00000356003	ensembl	human	known	70_37	missense	SNP	1.000	T
XCL1	6375	genome.wustl.edu	37	1	168549377	168549377	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:168549377G>T	ENST00000367818.3	+	2	303	c.138G>T	c.(136-138)aaG>aaT	p.K46N		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	46					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GCAGAATCAAGACCTACACCA	0.488																																																	0													161.0	150.0	154.0					1																	168549377		2203	4300	6503	SO:0001583	missense	6375			D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"""Endogenous ligands"""	10645	protein-coding gene	gene with protein product		600250	"""small inducible cytokine subfamily C, member 1 (lymphotactin)"""	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.138G>T	1.37:g.168549377G>T	ENSP00000356792:p.Lys46Asn		Q52MA8	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1	p.K46N	ENST00000367818.3	37	c.138	CCDS1274.1	1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930113	0.34096	.	.	ENSG00000143184	ENST00000367818	T	0.06068	3.35	4.36	3.44	0.39384	Chemokine interleukin-8-like domain (3);	0.416227	0.23452	N	0.048035	T	0.10035	0.0246	M	0.79614	2.46	0.28036	N	0.93394	D	0.69078	0.997	D	0.66351	0.943	T	0.05886	-1.0858	9	0.21540	T	0.41	-7.9608	7.4822	0.27411	0.1137:0.0:0.8863:0.0	.	46	P47992	XCL1_HUMAN	N	46	ENSP00000356792:K46N	ENSP00000356792:K46N	K	+	3	2	XCL1	166816001	0.999000	0.42202	1.000000	0.80357	0.151000	0.21798	1.637000	0.37155	2.431000	0.82371	0.655000	0.94253	AAG	XCL1	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1		0.488	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCL1	HGNC	protein_coding	OTTHUMT00000083612.1	G	NM_002995		168549377	+1	no_errors	ENST00000367818	ensembl	human	known	70_37	missense	SNP	1.000	T
XIAP	331	genome.wustl.edu	37	X	123025119	123025119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:123025119G>T	ENST00000371199.3	+	4	1308	c.1009G>T	c.(1009-1011)Gaa>Taa	p.E337*	XIAP_ENST00000355640.3_Nonsense_Mutation_p.E337*|XIAP_ENST00000434753.3_Nonsense_Mutation_p.E337*|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	337					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GAAGGGACAAGAATATATAAA	0.254									X-linked Lymphoproliferative syndrome																																								0													32.0	33.0	33.0					X																	123025119		2173	4235	6408	SO:0001587	stop_gained	331	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1009G>T	X.37:g.123025119G>T	ENSP00000360242:p.Glu337*		D3DTF2|Q9NQ14	Nonsense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.E337*	ENST00000371199.3	37	c.1009	CCDS14606.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.232573	0.97399	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	.	.	.	4.88	4.88	0.63580	.	0.465144	0.21271	N	0.077308	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-31.3214	12.905	0.58147	0.0:0.1593:0.8407:0.0	.	.	.	.	X	337	.	ENSP00000347858:E337X	E	+	1	0	XIAP	122852800	1.000000	0.71417	0.958000	0.39756	0.994000	0.84299	4.503000	0.60407	2.148000	0.66965	0.600000	0.82982	GAA	XIAP	-	NULL		0.254	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	XIAP	HGNC	protein_coding	OTTHUMT00000058165.5	G	NM_001167		123025119	+1	no_errors	ENST00000355640	ensembl	human	known	70_37	nonsense	SNP	1.000	T
XKR5	389610	genome.wustl.edu	37	8	6669501	6669501	+	RNA	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:6669501T>C	ENST00000518724.1	-	0	1430							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GCAGGACTGTTATCTCCAAAG	0.522																																																	0													80.0	69.0	72.0					8																	6669501		692	1591	2283			389610			AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6669501T>C			Q5GH74	RNA	SNP	-	NULL	ENST00000518724.1	37	NULL		8																																																																																			XKR5	-	-		0.522	XKR5-001	KNOWN	basic	processed_transcript	XKR5	HGNC	processed_transcript	OTTHUMT00000331969.2	T	NM_207411		6669501	-1	no_errors	ENST00000405979	ensembl	human	known	70_37	rna	SNP	0.000	C
XKR9	389668	genome.wustl.edu	37	8	71646621	71646621	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:71646621C>A	ENST00000408926.3	+	5	1618	c.1084C>A	c.(1084-1086)Cta>Ata	p.L362I	XKR9_ENST00000520030.1_Missense_Mutation_p.L362I|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	362						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AAAACCAGTTCTAAGAGAATG	0.279																																																	0													38.0	40.0	39.0					8																	71646621		2191	4293	6484	SO:0001583	missense	389668			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.1084C>A	8.37:g.71646621C>A	ENSP00000386141:p.Leu362Ile		B2RNS9|B9EH74	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.L362I	ENST00000408926.3	37	c.1084	CCDS34905.1	8	.	.	.	.	.	.	.	.	.	.	C	2.237	-0.374706	0.05034	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	.	.	.	4.98	-0.217	0.13149	.	0.980746	0.08355	N	0.958613	T	0.17746	0.0426	N	0.14661	0.345	0.09310	N	1	B	0.17667	0.023	B	0.12156	0.007	T	0.30119	-0.9989	9	0.16420	T	0.52	0.3711	4.5638	0.12173	0.3175:0.2033:0.4073:0.0719	.	362	Q5GH70	XKR9_HUMAN	I	362	.	ENSP00000386141:L362I	L	+	1	2	XKR9	71809175	0.010000	0.17322	0.104000	0.21259	0.149000	0.21700	-0.033000	0.12246	-0.229000	0.09854	-0.321000	0.08615	CTA	XKR9	-	NULL		0.279	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR9	HGNC	protein_coding	OTTHUMT00000378752.1	C	NM_001011720		71646621	+1	no_errors	ENST00000408926	ensembl	human	known	70_37	missense	SNP	0.000	A
XPC	7508	genome.wustl.edu	37	3	14199837	14199837	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:14199837C>T	ENST00000285021.7	-	9	1760	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	XPC_ENST00000449060.2_Missense_Mutation_p.D479N	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	516	Interaction with RAD23B.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTCACCATCGCTGCACATT	0.512			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	0													156.0	135.0	142.0					3																	14199837		1568	3582	5150	SO:0001583	missense	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1546G>A	3.37:g.14199837C>T	ENSP00000285021:p.Asp516Asn		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr	p.D516N	ENST00000285021.7	37	c.1546	CCDS46763.1	3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134917	0.77662	.	.	ENSG00000154767	ENST00000285021;ENST00000538683;ENST00000449060;ENST00000542703	T;T	0.22134	1.97;1.97	5.8	4.93	0.64822	Rad4/PNGase transglutaminase-like fold (1);	1.115020	0.06586	N	0.751196	T	0.31199	0.0789	L	0.55743	1.74	0.09310	N	1	D;P	0.55800	0.973;0.762	P;B	0.46758	0.526;0.118	T	0.30001	-0.9993	10	0.27082	T	0.32	-1.095	14.9774	0.71286	0.0:0.9317:0.0:0.0683	.	479;516	E9PH69;Q01831	.;XPC_HUMAN	N	516;12;479;4	ENSP00000285021:D516N;ENSP00000404002:D479N	ENSP00000285021:D516N	D	-	1	0	XPC	14174839	0.003000	0.15002	0.002000	0.10522	0.002000	0.02628	1.793000	0.38764	1.454000	0.47793	0.655000	0.94253	GAT	XPC	-	pfam_Rad4/PNGase_transGLS-fold,tigrfam_DNA_repair_Rad4_subgr		0.512	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XPC	HGNC	protein_coding	OTTHUMT00000340517.3	C	NM_004628		14199837	-1	no_errors	ENST00000285021	ensembl	human	known	70_37	missense	SNP	0.116	T
XPNPEP1	7511	genome.wustl.edu	37	10	111624807	111624807	+	3'UTR	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:111624807T>G	ENST00000502935.1	-	0	2255				XPNPEP1_ENST00000322238.8_3'UTR|XPNPEP1_ENST00000369680.4_3'UTR|XPNPEP1_ENST00000369683.1_3'UTR					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AAGAAGATTTTCTGTTCTTCT	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.*135A>C	10.37:g.111624807T>G				RNA	SNP	-	NULL	ENST00000502935.1	37	NULL	CCDS7560.2	10																																																																																			XPNPEP1	-	-		0.368	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2	T			111624807	-1	no_errors	ENST00000502895	ensembl	human	known	70_37	rna	SNP	0.455	G
YPEL5	51646	genome.wustl.edu	37	2	30381758	30381758	+	3'UTR	DEL	A	A	-			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:30381758delA	ENST00000379520.3	+	0	919				YPEL5_ENST00000379519.3_3'UTR|YPEL5_ENST00000261353.4_3'UTR|YPEL5_ENST00000402003.3_3'UTR|YPEL5_ENST00000402708.1_3'UTR|YPEL5_ENST00000495673.1_3'UTR	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)											NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					CACTGAAAACAAAAATCTACT	0.408																																																	0													20.0	17.0	18.0					2																	30381758		2177	4237	6414	SO:0001624	3_prime_UTR_variant	51646			AF135161	CCDS1771.1	2p23	2004-06-28			ENSG00000119801	ENSG00000119801			18329	protein-coding gene	gene with protein product		609726					Standard	NM_016061		Approved	CGI-127	uc002rmz.4	P62699	OTTHUMG00000097839	ENST00000379520.3:c.*49A>-	2.37:g.30381758delA			D6W568|Q65Z97|Q8R174|Q9D6M1|Q9UMX7|Q9Y3C9	RNA	DEL	-	NULL	ENST00000379520.3	37	NULL	CCDS1771.1	2																																																																																			YPEL5	-	-		0.408	YPEL5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YPEL5	HGNC	protein_coding	OTTHUMT00000215128.1	A	NM_016061		30381758	+1	no_errors	ENST00000470120	ensembl	human	known	70_37	rna	DEL	1.000	-
YTHDC1	91746	genome.wustl.edu	37	4	69203597	69203597	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:69203597C>T	ENST00000344157.4	-	3	487	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R51Q|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R51Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	51					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						AGATTCCATTCGATCACTTTT	0.303																																																	0													84.0	81.0	82.0					4																	69203597		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.152G>A	4.37:g.69203597C>T	ENSP00000339245:p.Arg51Gln		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.R51Q	ENST00000344157.4	37	c.152	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196124	0.78902	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.29397	1.69;1.57	5.27	5.27	0.74061	.	0.269079	0.36409	N	0.002604	T	0.41465	0.1160	N	0.19112	0.55	0.48762	D	0.999707	D;P	0.71674	0.998;0.496	D;B	0.75484	0.986;0.063	T	0.18085	-1.0348	10	0.25106	T	0.35	.	19.2421	0.93888	0.0:1.0:0.0:0.0	.	51;51	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	Q	51	ENSP00000339245:R51Q;ENSP00000347888:R51Q	ENSP00000339245:R51Q	R	-	2	0	YTHDC1	68886192	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.269000	0.65542	2.597000	0.87782	0.585000	0.79938	CGA	YTHDC1	-	NULL		0.303	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	C	NM_133370		69203597	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	1.000	T
YTHDC2	64848	genome.wustl.edu	37	5	112889509	112889509	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:112889509A>C	ENST00000161863.4	+	15	2223	c.2010A>C	c.(2008-2010)caA>caC	p.Q670H	YTHDC2_ENST00000515883.1_Missense_Mutation_p.Q670H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	670	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CATCCGATCAAAAGAAAGTAT	0.299																																																	0													65.0	66.0	66.0					5																	112889509		2200	4299	6499	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2010A>C	5.37:g.112889509A>C	ENSP00000161863:p.Gln670His		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q670H	ENST00000161863.4	37	c.2010	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356595	0.61293	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.76709	0.79;-1.04	5.51	1.74	0.24563	Helicase, C-terminal (3);	0.058686	0.64402	D	0.000001	D	0.88355	0.6414	H	0.98256	4.185	0.39140	D	0.962016	P	0.41947	0.766	P	0.50970	0.655	D	0.88570	0.3129	10	0.87932	D	0	.	8.7371	0.34534	0.5105:0.0:0.4895:0.0	.	670	Q9H6S0	YTDC2_HUMAN	H	670;670;580	ENSP00000161863:Q670H;ENSP00000423101:Q670H	ENSP00000161863:Q670H	Q	+	3	2	YTHDC2	112917408	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.970000	0.49240	0.377000	0.24735	0.528000	0.53228	CAA	YTHDC2	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.299	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	A	NM_022828		112889509	+1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	C
YTHDC2	64848	genome.wustl.edu	37	5	112927792	112927792	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:112927792G>A	ENST00000161863.4	+	28	4342	c.4129G>A	c.(4129-4131)Gaa>Aaa	p.E1377K		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1377	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GATACGAAAAGAAAGCCTTCC	0.443																																																	0													95.0	91.0	92.0					5																	112927792		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.4129G>A	5.37:g.112927792G>A	ENSP00000161863:p.Glu1377Lys		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1377K	ENST00000161863.4	37	c.4129	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689643	0.68271	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.28255	1.62	5.83	5.83	0.93111	YTH domain (2);	0.105878	0.64402	D	0.000008	T	0.32763	0.0840	N	0.05031	-0.125	0.80722	D	1	D	0.56968	0.978	D	0.63033	0.91	T	0.23013	-1.0200	10	0.15066	T	0.55	.	20.1025	0.97880	0.0:0.0:1.0:0.0	.	1377	Q9H6S0	YTDC2_HUMAN	K	1377;1287	ENSP00000161863:E1377K	ENSP00000161863:E1377K	E	+	1	0	YTHDC2	112955691	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.338000	0.96553	2.749000	0.94314	0.650000	0.86243	GAA	YTHDC2	-	pfam_YTH_domain,pfscan_YTH_domain		0.443	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112927792	+1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	A
ZAN	7455	genome.wustl.edu	37	7	100348282	100348282	+	RNA	SNP	C	C	A	rs150170459	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:100348282C>A	ENST00000348028.3	+	0	1449				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGACGAGTTCTCCCAGGCAG	0.577																																																	0													32.0	32.0	32.0					7																	100348282		1977	4158	6135			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100348282C>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.F428L	ENST00000348028.3	37	c.1284		7	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566443	0.45694	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02050	4.48;4.48;4.48	4.81	0.594	0.17485	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	1.184600	0.06277	N	0.696707	T	0.02230	0.0069	L	0.33189	0.99	0.35999	D	0.837243	B;B	0.12630	0.005;0.006	B;B	0.15052	0.007;0.012	T	0.33137	-0.9880	10	0.37606	T	0.19	.	3.5822	0.07958	0.1648:0.4457:0.2986:0.0909	.	428;428	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	428	ENSP00000445943:F428L;ENSP00000445091:F428L;ENSP00000444427:F428L	ENSP00000423579:F428L	F	+	3	2	ZAN	100186218	0.001000	0.12720	0.040000	0.18447	0.245000	0.25701	0.448000	0.21726	-0.008000	0.14320	0.650000	0.86243	TTC	ZAN	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.577	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100348282	+1	no_errors	ENST00000546292	ensembl	human	known	70_37	missense	SNP	0.146	A
ZBTB37	84614	genome.wustl.edu	37	1	173854952	173854952	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:173854952T>C	ENST00000367701.5	+	4	1393	c.1202T>C	c.(1201-1203)tTc>tCc	p.F401S	ZBTB37_ENST00000367704.1_3'UTR|ZBTB37_ENST00000427304.1_Missense_Mutation_p.F401S			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	401					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(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						ATCACACCATTCGTCTGCCGC	0.527																																																	0													131.0	109.0	116.0					1																	173854952		692	1591	2283	SO:0001583	missense	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.1202T>C	1.37:g.173854952T>C	ENSP00000356674:p.Phe401Ser		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F401S	ENST00000367701.5	37	c.1202	CCDS44278.1	1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850828	0.71719	.	.	ENSG00000185278	ENST00000427304;ENST00000367703;ENST00000367701	T;T	0.66815	-0.23;-0.23	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.124459	0.64402	D	0.000001	T	0.78027	0.4219	M	0.74647	2.275	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.81540	-0.0886	10	0.87932	D	0	.	16.0707	0.80928	0.0:0.0:0.0:1.0	.	401	Q5TC79	ZBT37_HUMAN	S	401;309;401	ENSP00000415293:F401S;ENSP00000356674:F401S	ENSP00000356674:F401S	F	+	2	0	ZBTB37	172121575	1.000000	0.71417	0.089000	0.20774	0.950000	0.60333	8.013000	0.88655	2.194000	0.70268	0.533000	0.62120	TTC	ZBTB37	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.527	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	T	NM_032522		173854952	+1	no_errors	ENST00000367701	ensembl	human	known	70_37	missense	SNP	0.995	C
ZBTB4	57659	genome.wustl.edu	37	17	7365529	7365529	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:7365529G>A	ENST00000311403.4	-	4	3111	c.2772C>T	c.(2770-2772)ctC>ctT	p.L924L	ZBTB4_ENST00000380599.4_Silent_p.L924L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	924					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGCCATAGACGAGCGGGTAGG	0.597																																																	0													98.0	104.0	102.0					17																	7365529		2203	4299	6502	SO:0001819	synonymous_variant	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2772C>T	17.37:g.7365529G>A			B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	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.L924	ENST00000311403.4	37	c.2772	CCDS11107.1	17																																																																																			ZBTB4	-	NULL		0.597	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	G	NM_020899		7365529	-1	no_errors	ENST00000311403	ensembl	human	known	70_37	silent	SNP	0.434	A
ZC3H3	23144	genome.wustl.edu	37	8	144520231	144520231	+	Missense_Mutation	SNP	G	G	T	rs149968226	byFrequency	TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:144520231G>T	ENST00000262577.5	-	12	2873	c.2842C>A	c.(2842-2844)Ctg>Atg	p.L948M		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	948					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGTCCTCACAGACGTGGTTTG	0.602																																																	0													77.0	70.0	72.0					8																	144520231		2200	4300	6500	SO:0001583	missense	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2842C>A	8.37:g.144520231G>T	ENSP00000262577:p.Leu948Met		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.L948M	ENST00000262577.5	37	c.2842	CCDS6402.1	8	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833163	0.32421	.	.	ENSG00000014164	ENST00000262577	T	0.04862	3.54	3.78	2.9	0.33743	.	0.181868	0.26776	N	0.022558	T	0.13200	0.0320	L	0.29908	0.895	0.28417	N	0.917906	D	0.89917	1.0	D	0.83275	0.996	T	0.01725	-1.1287	10	0.59425	D	0.04	.	10.5226	0.44929	0.0983:0.0:0.9017:0.0	.	948	Q8IXZ2	ZC3H3_HUMAN	M	948	ENSP00000262577:L948M	ENSP00000262577:L948M	L	-	1	2	ZC3H3	144591374	0.950000	0.32346	0.775000	0.31657	0.022000	0.10575	1.168000	0.31859	0.941000	0.37499	-0.143000	0.13931	CTG	ZC3H3	-	NULL		0.602	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2	G	NM_015117		144520231	-1	no_errors	ENST00000262577	ensembl	human	known	70_37	missense	SNP	0.948	T
ZC3H6	376940	genome.wustl.edu	37	2	113057460	113057460	+	Missense_Mutation	SNP	G	G	A	rs545433319		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:113057460G>A	ENST00000409871.1	+	2	468	c.67G>A	c.(67-69)Gat>Aat	p.D23N	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D23N	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	23							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						tgaaatagacgatgcaggatt	0.284													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14533	0.0		0.0	False		,,,				2504	0.0																0													56.0	53.0	54.0					2																	113057460		935	2074	3009	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.67G>A	2.37:g.113057460G>A	ENSP00000386764:p.Asp23Asn		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.D23N	ENST00000409871.1	37	c.67	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539131	0.65085	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.24350	1.86;1.86	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.70275	2.135	0.49213	D	0.999764	D	0.89917	1.0	D	0.79108	0.992	T	0.51284	-0.8725	10	0.87932	D	0	-15.8914	13.8479	0.63479	0.0:0.0:1.0:0.0	.	23	P61129	ZC3H6_HUMAN	N	23	ENSP00000386764:D23N;ENSP00000340298:D23N	ENSP00000340298:D23N	D	+	1	0	ZC3H6	112773931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.638000	0.61353	2.551000	0.86045	0.650000	0.86243	GAT	ZC3H6	-	NULL		0.284	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	G	NM_198581		113057460	+1	no_errors	ENST00000343936	ensembl	human	known	70_37	missense	SNP	1.000	A
ZC3H6	376940	genome.wustl.edu	37	2	113057490	113057490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:113057490G>T	ENST00000409871.1	+	2	498	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	ZC3H6_ENST00000343936.4_Nonsense_Mutation_p.E33*	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	33							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						acaagaaaaagaagcaaaaga	0.303																																																	0													63.0	64.0	64.0					2																	113057490		940	2073	3013	SO:0001587	stop_gained	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.97G>T	2.37:g.113057490G>T	ENSP00000386764:p.Glu33*		A9JR71|Q6ZW96	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E33*	ENST00000409871.1	37	c.97	CCDS46393.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.484312|7.484312	0.98312|0.98312	.|.	.|.	ENSG00000188177|ENSG00000188177	ENST00000409871;ENST00000343936|ENST00000542974	.|.	.|.	.|.	4.69|4.69	3.78|3.78	0.43462|0.43462	.|.	0.894495|.	0.09673|.	N|.	0.770837|.	.|T	.|0.44008	.|0.1273	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B	.|0.19935	.|0.04	.|B	.|0.14578	.|0.011	.|T	.|0.55921	.|-0.8064	.|6	0.59425|0.87932	D|D	0.04|0	-20.7549|-20.7549	11.2669|11.2669	0.49116|0.49116	0.0:0.1858:0.8142:0.0|0.0:0.1858:0.8142:0.0	.|.	.|10	.|Q6ZN12	.|.	X|N	33|10	.|.	ENSP00000340298:E33X|ENSP00000439726:K10N	E|K	+|+	1|3	0|2	ZC3H6|ZC3H6	112773961|112773961	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.776000|0.776000	0.43924|0.43924	1.066000|1.066000	0.30604|0.30604	1.254000|1.254000	0.44035|0.44035	0.650000|0.650000	0.86243|0.86243	GAA|AAG	ZC3H6	-	NULL		0.303	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	G	NM_198581		113057490	+1	no_errors	ENST00000343936	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ZC3H8	84524	genome.wustl.edu	37	2	113012538	113012538	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:113012538G>T	ENST00000409573.2	-	1	150	c.21C>A	c.(19-21)ttC>ttA	p.F7L	ZC3H8_ENST00000272570.5_Missense_Mutation_p.F7L			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	7					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						GGGGTTTTGAGAAAAGATTCT	0.552																																																	0													34.0	40.0	38.0					2																	113012538		1837	4085	5922	SO:0001583	missense	84524			AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"""Zinc fingers, CCCH-type domain containing"""	30941	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 8"""	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.21C>A	2.37:g.113012538G>T	ENSP00000386488:p.Phe7Leu		Q9BZ75	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.F7L	ENST00000409573.2	37	c.21	CCDS46392.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069230	0.76301	.	.	ENSG00000144161	ENST00000409573;ENST00000272570	T;T	0.21543	2.0;2.0	3.39	1.53	0.23141	.	0.534895	0.18216	N	0.148033	T	0.17746	0.0426	L	0.57536	1.79	0.25993	N	0.982222	B	0.26876	0.162	B	0.20955	0.032	T	0.18903	-1.0322	10	0.87932	D	0	-2.469	5.1405	0.14955	0.2835:0.0:0.7165:0.0	.	7	Q8N5P1	ZC3H8_HUMAN	L	7	ENSP00000386488:F7L;ENSP00000272570:F7L	ENSP00000272570:F7L	F	-	3	2	ZC3H8	112729009	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	0.544000	0.23253	0.413000	0.25759	-0.150000	0.13652	TTC	ZC3H8	-	NULL		0.552	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H8	HGNC	protein_coding	OTTHUMT00000330521.3	G	NM_032494		113012538	-1	no_errors	ENST00000272570	ensembl	human	known	70_37	missense	SNP	1.000	T
ZC3H6	376940	genome.wustl.edu	37	2	113057542	113057542	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:113057542G>T	ENST00000409871.1	+	2	550	c.149G>T	c.(148-150)aGa>aTa	p.R50I	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R50I	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	50							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						agaaaatcaagaaaaaaacat	0.303																																																	0													64.0	67.0	66.0					2																	113057542		928	2068	2996	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.149G>T	2.37:g.113057542G>T	ENSP00000386764:p.Arg50Ile		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R50I	ENST00000409871.1	37	c.149	CCDS46393.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.213985|3.213985	0.58452|0.58452	.|.	.|.	ENSG00000188177|ENSG00000188177	ENST00000542974|ENST00000409871;ENST00000343936	.|T;T	.|0.20738	.|2.05;2.05	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	.|0.581465	.|0.17417	.|N	.|0.174993	.|T	.|0.40448	.|0.1117	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.76071	.|0.987	.|T	.|0.14671	.|-1.0464	.|10	0.11485|0.87932	T|D	0.65|0	-20.6842|-20.6842	13.7501|13.7501	0.62901|0.62901	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|50	.|P61129	.|ZC3H6_HUMAN	X|I	28|50	.|ENSP00000386764:R50I;ENSP00000340298:R50I	ENSP00000439726:E28X|ENSP00000340298:R50I	E|R	+|+	1|2	0|0	ZC3H6|ZC3H6	112774013|112774013	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	4.638000|4.638000	0.61353|0.61353	2.521000|2.521000	0.84997|0.84997	0.557000|0.557000	0.71058|0.71058	GAA|AGA	ZC3H6	-	NULL		0.303	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	G	NM_198581		113057542	+1	no_errors	ENST00000343936	ensembl	human	known	70_37	missense	SNP	1.000	T
ZCCHC18	644353	genome.wustl.edu	37	X	103359951	103359951	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:103359951A>C	ENST00000537356.3	+	2	2563	c.1149A>C	c.(1147-1149)acA>acC	p.T383T	ZCCHC18_ENST00000422784.1_3'UTR|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	383							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										AGGAGCTGACACATACAGAGG	0.488																																																	0													66.0	54.0	58.0					X																	103359951		692	1591	2283	SO:0001819	synonymous_variant	644353			AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.1149A>C	X.37:g.103359951A>C				RNA	SNP	-	NULL	ENST00000537356.3	37	NULL		X																																																																																			ZCCHC18	-	-		0.488	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	ZCCHC18	HGNC	protein_coding	OTTHUMT00000471686.1	A	NM_001143978		103359951	+1	no_errors	ENST00000422784	ensembl	human	known	70_37	rna	SNP	0.000	C
ZCCHC6	79670	genome.wustl.edu	37	9	88934520	88934520	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:88934520A>C	ENST00000375963.3	-	15	3266	c.3094T>G	c.(3094-3096)Ttc>Gtc	p.F1032V	ZCCHC6_ENST00000277141.6_Missense_Mutation_p.F321V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.F1032V|ZCCHC6_ENST00000375957.1_5'UTR|ZCCHC6_ENST00000375960.2_Intron	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1032					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TGTCTTATGAAACTTTCTAGG	0.299																																																	0													56.0	54.0	55.0					9																	88934520		2202	4300	6502	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3094T>G	9.37:g.88934520A>C	ENSP00000365130:p.Phe1032Val		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.F1032V	ENST00000375963.3	37	c.3094	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308306	0.81247	.	.	ENSG00000083223	ENST00000277141;ENST00000375961;ENST00000375963	T;T;T	0.37584	1.19;1.19;1.19	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.28134	0.0694	L	0.31664	0.95	0.54753	D	0.999982	B	0.28998	0.23	B	0.27076	0.076	T	0.05852	-1.0860	10	0.31617	T	0.26	-33.4032	15.0819	0.72122	1.0:0.0:0.0:0.0	.	1032	Q5VYS8	TUT7_HUMAN	V	321;1032;1032	ENSP00000277141:F321V;ENSP00000365128:F1032V;ENSP00000365130:F1032V	ENSP00000277141:F321V	F	-	1	0	ZCCHC6	88124340	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.169000	0.77578	2.214000	0.71695	0.528000	0.53228	TTC	ZCCHC6	-	NULL		0.299	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	A	NM_024617		88934520	-1	no_errors	ENST00000375963	ensembl	human	known	70_37	missense	SNP	1.000	C
ZCCHC8	55596	genome.wustl.edu	37	12	122967242	122967242	+	Splice_Site	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:122967242C>A	ENST00000336229.4	-	8	802	c.672G>T	c.(670-672)agG>agT	p.R224S	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	224					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAGGCTTTGGCCTATTTGGTC	0.313																																																	0													39.0	39.0	39.0					12																	122967242		1796	4055	5851	SO:0001630	splice_region_variant	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.672-1G>T	12.37:g.122967242C>A			Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.R224S	ENST00000336229.4	37	c.672		12	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723003	0.68959	.	.	ENSG00000033030	ENST00000336229	T	0.51325	0.71	5.48	3.3	0.37823	Zinc finger, CCHC retroviral-type (1);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	L	0.56769	1.78	0.58432	D	0.999997	D	0.76494	0.999	D	0.78314	0.991	T	0.62723	-0.6794	10	0.59425	D	0.04	.	10.5271	0.44954	0.0:0.7673:0.0:0.2327	.	224	Q6NZY4	ZCHC8_HUMAN	S	224	ENSP00000337313:R224S	ENSP00000337313:R224S	R	-	3	2	ZCCHC8	121533195	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.622000	0.54217	1.310000	0.45006	0.455000	0.32223	AGG	ZCCHC8	-	superfamily_Znf_CCHC		0.313	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		C	NM_017612	Missense_Mutation	122967242	-1	no_errors	ENST00000336229	ensembl	human	known	70_37	missense	SNP	1.000	A
ZDBF2	57683	genome.wustl.edu	37	2	207174601	207174601	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:207174601G>T	ENST00000374423.3	+	5	5735	c.5349G>T	c.(5347-5349)aaG>aaT	p.K1783N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1783							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGAAAGAAAAGAACCATGATT	0.413																																																	0													60.0	61.0	61.0					2																	207174601		1857	4109	5966	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5349G>T	2.37:g.207174601G>T	ENSP00000363545:p.Lys1783Asn		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.K1783N	ENST00000374423.3	37	c.5349	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	7.877	0.729490	0.15507	.	.	ENSG00000204186	ENST00000374423	T	0.46063	0.88	4.64	-4.95	0.03048	.	.	.	.	.	T	0.19446	0.0467	N	0.22421	0.69	0.09310	N	1	B	0.26744	0.158	B	0.19391	0.025	T	0.16247	-1.0409	9	0.28530	T	0.3	.	1.8272	0.03123	0.482:0.1007:0.1846:0.2327	.	1783	Q9HCK1	ZDBF2_HUMAN	N	1783	ENSP00000363545:K1783N	ENSP00000363545:K1783N	K	+	3	2	ZDBF2	206882846	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-0.789000	0.04609	-0.938000	0.03714	0.650000	0.86243	AAG	ZDBF2	-	NULL		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	G	NM_020923		207174601	+1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.000	T
ZDBF2	57683	genome.wustl.edu	37	2	207175201	207175201	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:207175201G>T	ENST00000374423.3	+	5	6335	c.5949G>T	c.(5947-5949)aaG>aaT	p.K1983N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1983							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAACCAAAAAGAAAGTCAAAA	0.348																																																	0													54.0	54.0	54.0					2																	207175201		1827	4090	5917	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5949G>T	2.37:g.207175201G>T	ENSP00000363545:p.Lys1983Asn		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.K1983N	ENST00000374423.3	37	c.5949	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115260	0.56505	.	.	ENSG00000204186	ENST00000374423	T	0.53857	0.6	4.9	-1.6	0.08426	.	.	.	.	.	T	0.39655	0.1086	L	0.43152	1.355	0.09310	N	1	B	0.25563	0.129	B	0.27608	0.081	T	0.33954	-0.9848	9	0.46703	T	0.11	.	5.1619	0.15066	0.2767:0.2644:0.4589:0.0	.	1983	Q9HCK1	ZDBF2_HUMAN	N	1983	ENSP00000363545:K1983N	ENSP00000363545:K1983N	K	+	3	2	ZDBF2	206883446	0.638000	0.27225	0.000000	0.03702	0.205000	0.24178	1.327000	0.33746	-0.343000	0.08351	0.563000	0.77884	AAG	ZDBF2	-	NULL		0.348	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	G	NM_020923		207175201	+1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.050	T
ZDBF2	57683	genome.wustl.edu	37	2	207175683	207175683	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:207175683G>T	ENST00000374423.3	+	5	6817	c.6431G>T	c.(6430-6432)aGa>aTa	p.R2144I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2144							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCAAAGAAAAGAAATTTCCAG	0.348																																																	0													41.0	42.0	42.0					2																	207175683		1799	4076	5875	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6431G>T	2.37:g.207175683G>T	ENSP00000363545:p.Arg2144Ile		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.R2144I	ENST00000374423.3	37	c.6431	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490005	0.26686	.	.	ENSG00000204186	ENST00000374423	T	0.46819	0.86	5.01	2.16	0.27623	.	.	.	.	.	T	0.26629	0.0651	N	0.22421	0.69	0.09310	N	1	B	0.28971	0.229	B	0.20767	0.031	T	0.15838	-1.0423	9	0.41790	T	0.15	.	2.105	0.03688	0.2492:0.1428:0.4776:0.1304	.	2144	Q9HCK1	ZDBF2_HUMAN	I	2144	ENSP00000363545:R2144I	ENSP00000363545:R2144I	R	+	2	0	ZDBF2	206883928	0.054000	0.20591	0.016000	0.15963	0.012000	0.07955	1.382000	0.34374	0.623000	0.30267	-0.150000	0.13652	AGA	ZDBF2	-	NULL		0.348	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	G	NM_020923		207175683	+1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.001	T
ZDHHC11	79844	genome.wustl.edu	37	5	848731	848731	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:848731G>A	ENST00000283441.8	-	2	650	c.267C>T	c.(265-267)atC>atT	p.I89I	ZDHHC11_ENST00000424784.2_Silent_p.I89I	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	89						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TGCAGGACGCGATCAGGTGGA	0.592																																																	0													32.0	27.0	28.0					5																	848731		2193	4266	6459	SO:0001819	synonymous_variant	79844			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.267C>T	5.37:g.848731G>A			Q6UWR9	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.I89	ENST00000283441.8	37	c.267	CCDS3857.1	5																																																																																			ZDHHC11	-	NULL		0.592	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	HGNC	protein_coding	OTTHUMT00000206681.3	G	NM_024786		848731	-1	no_errors	ENST00000283441	ensembl	human	known	70_37	silent	SNP	0.000	A
ZDHHC17	23390	genome.wustl.edu	37	12	77235776	77235776	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr12:77235776T>G	ENST00000426126.2	+	11	1805	c.1156T>G	c.(1156-1158)Ttt>Gtt	p.F386V	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F386V|ZDHHC17_ENST00000550789.1_Intron	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	386					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CAACTTTTTATTTATCCATCT	0.289																																																	0													96.0	82.0	87.0					12																	77235776		1801	4074	5875	SO:0001583	missense	23390			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1156T>G	12.37:g.77235776T>G	ENSP00000403397:p.Phe386Val		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase,prints_Ankyrin_rpt	p.F386V	ENST00000426126.2	37	c.1156	CCDS44946.1	12	.	.	.	.	.	.	.	.	.	.	T	11.41	1.631990	0.29068	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.35605	1.3;1.3	5.27	5.27	0.74061	.	0.569138	0.20389	N	0.093290	T	0.20861	0.0502	N	0.08118	0	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.07558	-1.0766	10	0.19147	T	0.46	-2.0957	15.477	0.75489	0.0:0.0:0.0:1.0	.	386	Q8IUH5	ZDH17_HUMAN	V	386	ENSP00000403397:F386V;ENSP00000334868:F386V	ENSP00000334868:F386V	F	+	1	0	ZDHHC17	75759907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.905000	0.69893	2.099000	0.63709	0.477000	0.44152	TTT	ZDHHC17	-	NULL		0.289	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC17	HGNC	protein_coding	OTTHUMT00000406555.1	T	NM_015336		77235776	+1	no_errors	ENST00000334822	ensembl	human	known	70_37	missense	SNP	1.000	G
ZDHHC20	253832	genome.wustl.edu	37	13	21987845	21987845	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:21987845T>G	ENST00000400590.3	-	4	514	c.316A>C	c.(316-318)Att>Ctt	p.I106L	ZDHHC20_ENST00000382466.3_Missense_Mutation_p.I106L|ZDHHC20_ENST00000320220.9_Missense_Mutation_p.I106L|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.I106L|ZDHHC20_ENST00000422251.1_Missense_Mutation_p.I106L|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.I43L			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	106					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)		CTTCTCAAAATTTCTTGTTGT	0.289																																																	0													127.0	108.0	114.0					13																	21987845		1800	4070	5870	SO:0001583	missense	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.316A>C	13.37:g.21987845T>G	ENSP00000383433:p.Ile106Leu		A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.I106L	ENST00000400590.3	37	c.316		13	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135961	0.77662	.	.	ENSG00000180776	ENST00000400590;ENST00000320220;ENST00000382466;ENST00000542645;ENST00000415724;ENST00000422251	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	L	0.52126	1.63	0.58432	D	0.999998	B;B	0.31318	0.319;0.318	P;B	0.46339	0.513;0.396	T	0.21280	-1.0250	10	0.48119	T	0.1	-3.5221	14.3268	0.66526	0.0:0.0:0.0:1.0	.	43;106	B4DRN8;Q5W0Z9-3	.;.	L	106;106;106;43;106;106	ENSP00000383433:I106L;ENSP00000313583:I106L;ENSP00000371905:I106L;ENSP00000443236:I43L;ENSP00000401232:I106L	ENSP00000313583:I106L	I	-	1	0	ZDHHC20	20885845	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	5.825000	0.69286	2.136000	0.66102	0.402000	0.26972	ATT	ZDHHC20	-	NULL		0.289	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZDHHC20	HGNC	protein_coding	OTTHUMT00000045994.1	T	NM_153251		21987845	-1	no_errors	ENST00000400590	ensembl	human	known	70_37	missense	SNP	1.000	G
ZEB1	6935	genome.wustl.edu	37	10	31810200	31810200	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:31810200C>A	ENST00000320985.10	+	7	2047	c.1937C>A	c.(1936-1938)tCt>tAt	p.S646Y	ZEB1_ENST00000446923.2_Missense_Mutation_p.S630Y|ZEB1_ENST00000542815.3_Missense_Mutation_p.S579Y|ZEB1_ENST00000560721.2_Missense_Mutation_p.S626Y|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.S647Y			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	646					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GAACCATCTTCTCCTGAACCA	0.408																																					Ovarian(40;423 959 14296 36701 49589)												0													73.0	69.0	70.0					10																	31810200		2203	4300	6503	SO:0001583	missense	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1937C>A	10.37:g.31810200C>A	ENSP00000319248:p.Ser646Tyr		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.S647Y	ENST00000320985.10	37	c.1940	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399315	0.62177	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.34	5.34	0.76211	.	0.437579	0.21871	N	0.067893	D	0.87755	0.6257	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.982;0.999;0.998;0.998;0.998;0.984;0.998;0.998	P;D;D;D;D;P;D;D	0.83275	0.897;0.996;0.991;0.991;0.991;0.851;0.991;0.991	D	0.88211	0.2890	10	0.72032	D	0.01	-12.4514	19.4201	0.94719	0.0:1.0:0.0:0.0	.	579;646;630;646;646;626;647;646	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	Y	428;646;647;646;579;646;626;505;537;630	ENSP00000444282:S428Y;ENSP00000354487:S647Y;ENSP00000444891:S579Y;ENSP00000319248:S646Y;ENSP00000391612:S630Y	ENSP00000319248:S646Y	S	+	2	0	ZEB1	31850206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.984000	0.70548	2.667000	0.90743	0.655000	0.94253	TCT	ZEB1	-	superfamily_Homeodomain-like		0.408	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	C	NM_030751		31810200	+1	no_errors	ENST00000361642	ensembl	human	known	70_37	missense	SNP	1.000	A
ZEB2	9839	genome.wustl.edu	37	2	145147236	145147236	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:145147236C>A	ENST00000558170.2	-	10	4611	c.3427G>T	c.(3427-3429)Gaa>Taa	p.E1143*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1143*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1119*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1143*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1143	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCTCGCCTTCTTTCTCGTGC	0.557																																					Melanoma(33;1235 1264 5755 16332)												0													203.0	172.0	183.0					2																	145147236		2203	4300	6503	SO:0001587	stop_gained	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3427G>T	2.37:g.145147236C>A	ENSP00000454157:p.Glu1143*		A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E1143*	ENST00000558170.2	37	c.3427	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.012109	0.99317	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.8934	19.7945	0.96474	0.0:1.0:0.0:0.0	.	.	.	.	X	1119;1143;1143	.	ENSP00000302501:E1143X	E	-	1	0	ZEB2	144863706	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.880000	0.69698	2.746000	0.94184	0.591000	0.81541	GAA	ZEB2	-	NULL		0.557	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	C	NM_014795		145147236	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZFHX3	463	genome.wustl.edu	37	16	72827732	72827732	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:72827732C>T	ENST00000268489.5	-	9	9521	c.8849G>A	c.(8848-8850)cGc>cAc	p.R2950H	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.R2036H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2950					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CATTTGAGTGCGAAAACGTTT	0.527																																																	0													77.0	70.0	73.0					16																	72827732		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8849G>A	16.37:g.72827732C>T	ENSP00000268489:p.Arg2950His		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R2950H	ENST00000268489.5	37	c.8849	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405686	0.42715	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.99167	-5.51;-5.51	6.17	6.17	0.99709	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.50627	D	0.000105	D	0.99651	0.9871	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97746	1.0211	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2950	Q15911	ZFHX3_HUMAN	H	2950;2036	ENSP00000268489:R2950H;ENSP00000438926:R2036H	ENSP00000268489:R2950H	R	-	2	0	ZFHX3	71385233	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC	ZFHX3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.527	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72827732	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFHX3	463	genome.wustl.edu	37	16	72845843	72845843	+	Silent	SNP	C	C	T	rs140481719		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:72845843C>T	ENST00000268489.5	-	6	4296	c.3624G>A	c.(3622-3624)tcG>tcA	p.S1208S	ZFHX3_ENST00000397992.5_Silent_p.S294S|RP5-991G20.2_ENST00000558618.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1208					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTGGTCGCTTCGAAGAGAGGG	0.537																																																	0													160.0	162.0	162.0					16																	72845843		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3624G>A	16.37:g.72845843C>T			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S1208	ENST00000268489.5	37	c.3624	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.537	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72845843	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	0.026	T
ZFP2	80108	genome.wustl.edu	37	5	178358445	178358445	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:178358445G>A	ENST00000361362.2	+	5	661	c.131G>A	c.(130-132)aGa>aAa	p.R44K	ZFP2_ENST00000520301.1_Missense_Mutation_p.R44K|ZFP2_ENST00000503510.2_Missense_Mutation_p.R44K|ZFP2_ENST00000523286.1_Missense_Mutation_p.R44K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		ACTGAGATGAGAGTATGTGGA	0.423																																																	0													104.0	103.0	103.0					5																	178358445		2203	4300	6503	SO:0001583	missense	80108			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.131G>A	5.37:g.178358445G>A	ENSP00000354453:p.Arg44Lys		A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R44K	ENST00000361362.2	37	c.131	CCDS4440.1	5	.	.	.	.	.	.	.	.	.	.	g	0	-2.785614	0.00078	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	4.31	-0.957	0.10350	.	0.470641	0.15873	N	0.240405	T	0.03263	0.0095	L	0.35542	1.07	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46925	-0.9156	10	0.02654	T	1	-1.5873	4.2342	0.10618	0.4787:0.0:0.3597:0.1616	.	44	Q6ZN57	ZFP2_HUMAN	K	44	ENSP00000354453:R44K;ENSP00000430980:R44K;ENSP00000430531:R44K;ENSP00000438114:R44K	ENSP00000354453:R44K	R	+	2	0	ZFP2	178291051	0.001000	0.12720	0.003000	0.11579	0.074000	0.17049	0.464000	0.21988	-0.098000	0.12285	-0.469000	0.05056	AGA	ZFP2	-	NULL		0.423	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP2	HGNC	protein_coding	OTTHUMT00000253470.2	G	NM_030613		178358445	+1	no_errors	ENST00000361362	ensembl	human	known	70_37	missense	SNP	0.003	A
ZFP36	7538	genome.wustl.edu	37	19	39899088	39899088	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:39899088G>T	ENST00000248673.3	+	2	788	c.730G>T	c.(730-732)Gac>Tac	p.D244Y	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.D250Y	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	244					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCTCGAAGAGACCCCACCCC	0.672																																					NSCLC(67;1164 1324 12056 21056 30097)												0													29.0	34.0	32.0					19																	39899088		2203	4298	6501	SO:0001583	missense	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.730G>T	19.37:g.39899088G>T	ENSP00000248673:p.Asp244Tyr		B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.D250Y	ENST00000248673.3	37	c.748		19	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910521	0.33721	.	.	ENSG00000128016	ENST00000248673	T	0.18502	2.21	4.35	4.35	0.52113	.	0.809225	0.10659	U	0.648940	T	0.15349	0.0370	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.07028	-1.0794	10	0.59425	D	0.04	-10.5179	8.1284	0.31012	0.1089:0.0:0.8911:0.0	.	244	P26651	TTP_HUMAN	Y	244	ENSP00000248673:D244Y	ENSP00000248673:D244Y	D	+	1	0	ZFP36	44590928	0.015000	0.18098	0.991000	0.47740	0.484000	0.33280	1.543000	0.36147	2.280000	0.76307	0.442000	0.29010	GAC	ZFP36	-	NULL		0.672	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		G			39899088	+1	no_errors	ENST00000597629	ensembl	human	known	70_37	missense	SNP	0.039	T
ZFP28	140612	genome.wustl.edu	37	19	57066329	57066329	+	Silent	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:57066329C>A	ENST00000301318.3	+	8	2246	c.2175C>A	c.(2173-2175)ggC>ggA	p.G725G	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	725					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGCACACTGGCCAAAGACCTT	0.408																																					Ovarian(124;554 1662 19430 21141 52494)												0													110.0	107.0	108.0					19																	57066329		2203	4300	6503	SO:0001819	synonymous_variant	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2175C>A	19.37:g.57066329C>A			A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	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.G725	ENST00000301318.3	37	c.2175	CCDS12946.1	19																																																																																			ZFP28	-	pfscan_Znf_C2H2		0.408	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	C	NM_020828		57066329	+1	no_errors	ENST00000301318	ensembl	human	known	70_37	silent	SNP	0.998	A
ZFP62	643836	genome.wustl.edu	37	5	180277034	180277034	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:180277034G>A	ENST00000502412.1	-	2	1518	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	ZFP62_ENST00000506377.1_Intron|ZFP62_ENST00000512132.1_Silent_p.I454I|ZFP62_ENST00000359141.6_Silent_p.I427I	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGAGCGTGAGATATAGGCTT	0.453																																																	0													118.0	92.0	100.0					5																	180277034		692	1591	2283	SO:0001819	synonymous_variant	643836			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.1461C>T	5.37:g.180277034G>A			B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I454	ENST00000502412.1	37	c.1362	CCDS54955.1	5																																																																																			ZFP62	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ZFP62	HGNC	protein_coding	OTTHUMT00000368386.2	G	NM_152283		180277034	-1	no_errors	ENST00000512132	ensembl	human	known	70_37	silent	SNP	1.000	A
ZFPM2	23414	genome.wustl.edu	37	8	106646569	106646569	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:106646569C>T	ENST00000407775.2	+	5	766	c.516C>T	c.(514-516)tgC>tgT	p.C172C	ZFPM2_ENST00000520492.1_Silent_p.C40C|ZFPM2_ENST00000517361.1_Silent_p.C40C	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	172					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAAACAACTGCATTGTGTACA	0.453																																																	0													95.0	92.0	93.0					8																	106646569		1998	4183	6181	SO:0001819	synonymous_variant	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.516C>T	8.37:g.106646569C>T			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C172	ENST00000407775.2	37	c.516	CCDS47908.1	8																																																																																			ZFPM2	-	NULL		0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	C			106646569	+1	no_errors	ENST00000407775	ensembl	human	known	70_37	silent	SNP	1.000	T
ZFYVE26	23503	genome.wustl.edu	37	14	68229033	68229033	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr14:68229033A>C	ENST00000347230.4	-	34	6394	c.6256T>G	c.(6256-6258)Ttc>Gtc	p.F2086V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.F2086V|ZFYVE26_ENST00000557306.1_5'Flank	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2086					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGCGACTGAACTTCTCCCGT	0.582																																																	0													100.0	81.0	88.0					14																	68229033		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6256T>G	14.37:g.68229033A>C	ENSP00000251119:p.Phe2086Val		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.F2086V	ENST00000347230.4	37	c.6256	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438084	0.83885	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.50277	0.89;0.75	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.65815	0.995;0.991	D;P	0.66716	0.946;0.79	T	0.73616	-0.3926	10	0.87932	D	0	-22.2396	15.7063	0.77583	1.0:0.0:0.0:0.0	.	2086;2086	G3V2D8;Q68DK2	.;ZFY26_HUMAN	V	2086;2065;2086	ENSP00000251119:F2086V;ENSP00000450603:F2086V	ENSP00000251119:F2086V	F	-	1	0	ZFYVE26	67298786	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.502000	0.81614	2.118000	0.64928	0.533000	0.62120	TTC	ZFYVE26	-	NULL		0.582	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	A	NM_015346		68229033	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	missense	SNP	1.000	C
ZHX2	22882	genome.wustl.edu	37	8	123964315	123964315	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:123964315C>T	ENST00000314393.4	+	3	1400	c.565C>T	c.(565-567)Cct>Tct	p.P189S		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	189					mRNA catabolic process (GO:0006402)|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)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CATCATGAAGCCTGGAAAACC	0.572																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)												0													123.0	131.0	128.0					8																	123964315		2203	4300	6503	SO:0001583	missense	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.565C>T	8.37:g.123964315C>T	ENSP00000314709:p.Pro189Ser			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.P189S	ENST00000314393.4	37	c.565	CCDS6336.1	8	.	.	.	.	.	.	.	.	.	.	C	4.979	0.181888	0.09495	.	.	ENSG00000178764	ENST00000314393	T	0.16897	2.31	5.63	1.66	0.24008	.	0.665595	0.15274	N	0.271041	T	0.07683	0.0193	N	0.14661	0.345	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.32107	-0.9919	10	0.33940	T	0.23	-0.0921	1.4762	0.02426	0.1492:0.4129:0.2233:0.2146	.	189	Q9Y6X8	ZHX2_HUMAN	S	189	ENSP00000314709:P189S	ENSP00000314709:P189S	P	+	1	0	ZHX2	124033496	0.000000	0.05858	0.995000	0.50966	0.919000	0.55068	-0.480000	0.06559	0.080000	0.16959	0.555000	0.69702	CCT	ZHX2	-	NULL		0.572	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	C	NM_014943		123964315	+1	no_errors	ENST00000314393	ensembl	human	known	70_37	missense	SNP	0.386	T
ZHX1	11244	genome.wustl.edu	37	8	124279616	124279616	+	5'UTR	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:124279616T>C	ENST00000522655.1	-	0	212				ZHX1_ENST00000522595.1_5'UTR|snoU13_ENST00000458773.1_RNA|ZHX1-C8ORF76_ENST00000357082.4_5'UTR|ZHX1_ENST00000395571.3_5'UTR|ZHX1_ENST00000297857.2_5'UTR			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1						cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAGCAGCAGTCTGTCTTCTC	0.343																																																	0																																										SO:0001623	5_prime_UTR_variant	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.-329A>G	8.37:g.124279616T>C			Q8IWD8	RNA	SNP	-	NULL	ENST00000522655.1	37	NULL	CCDS6342.1	8																																																																																			ZHX1	-	-		0.343	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	T			124279616	-1	no_errors	ENST00000480132	ensembl	human	known	70_37	rna	SNP	1.000	C
ZIC2	7546	genome.wustl.edu	37	13	100637349	100637349	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr13:100637349C>T	ENST00000376335.3	+	2	1518	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	409			R -> W (in HPE5). {ECO:0000269|PubMed:19177455}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCTCGCTGCGGAAGCACAT	0.662																																					Pancreas(97;119 1522 31925 44771 48764)												0													95.0	83.0	87.0					13																	100637349		2203	4300	6503	SO:0001583	missense	7546			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1225C>T	13.37:g.100637349C>T	ENSP00000365514:p.Arg409Trp		Q5VYA9|Q9H309	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R409W	ENST00000376335.3	37	c.1225	CCDS9495.1	13	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838761	0.71373	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	T	0.07800	3.16	3.65	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	M	0.61703	1.905	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.01093	-1.1454	10	0.87932	D	0	.	10.4803	0.44689	0.4508:0.5492:0.0:0.0	.	409	O95409	ZIC2_HUMAN	W	409;158	ENSP00000365514:R409W	ENSP00000365514:R409W	R	+	1	2	ZIC2	99435350	0.225000	0.23685	0.995000	0.50966	0.991000	0.79684	0.711000	0.25764	0.846000	0.35142	0.561000	0.74099	CGG	ZIC2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2	C	NM_007129		100637349	+1	no_errors	ENST00000376335	ensembl	human	known	70_37	missense	SNP	1.000	T
ZMPSTE24	10269	genome.wustl.edu	37	1	40737688	40737688	+	Silent	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:40737688G>A	ENST00000372759.3	+	6	915	c.750G>A	c.(748-750)acG>acA	p.T250T		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	250					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTCCTTTGACGAAGGTGTATG	0.333																																																	0													110.0	105.0	107.0					1																	40737688		2203	4300	6503	SO:0001819	synonymous_variant	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.750G>A	1.37:g.40737688G>A			B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Silent	SNP	pfam_Peptidase_M48	p.T250	ENST00000372759.3	37	c.750	CCDS449.1	1																																																																																			ZMPSTE24	-	pfam_Peptidase_M48		0.333	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMPSTE24	HGNC	protein_coding	OTTHUMT00000015766.1	G			40737688	+1	no_errors	ENST00000372759	ensembl	human	known	70_37	silent	SNP	0.943	A
ZMYM3	9203	genome.wustl.edu	37	X	70473060	70473060	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:70473060G>T	ENST00000353904.2	-	2	233	c.46C>A	c.(46-48)Cca>Aca	p.P16T	ZMYM3_ENST00000373982.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P16T|ZMYM3_ENST00000373981.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000373998.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P16T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	16					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)					GGCTTCTCTGGCAGGGTCAAT	0.552											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28.0	29.0	29.0					X																	70473060		1990	4157	6147	SO:0001583	missense	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.46C>A	X.37:g.70473060G>T	ENSP00000343909:p.Pro16Thr	1122	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.P16T	ENST00000353904.2	37	c.46	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	16.79	3.219566	0.58560	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.64	4.64	0.57946	.	0.000000	0.49916	D	0.000140	T	0.40719	0.1128	N	0.19112	0.55	0.36211	D	0.851342	D;D;D	0.71674	0.998;0.997;0.994	D;D;D	0.78314	0.987;0.991;0.981	T	0.55509	-0.8130	10	0.87932	D	0	-3.7351	15.0413	0.71793	0.0:0.0:1.0:0.0	.	16;16;16	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	T	16	ENSP00000322845:P16T;ENSP00000363110:P16T;ENSP00000343909:P16T;ENSP00000363096:P16T;ENSP00000363100:P16T;ENSP00000363094:P16T;ENSP00000363093:P16T;ENSP00000363090:P16T	ENSP00000322845:P16T	P	-	1	0	ZMYM3	70389785	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.802000	0.69122	1.898000	0.54952	0.287000	0.19450	CCA	ZMYM3	-	NULL		0.552	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	G	NM_201599		70473060	-1	no_errors	ENST00000373988	ensembl	human	known	70_37	missense	SNP	1.000	T
ZMYND12	84217	genome.wustl.edu	37	1	42898673	42898673	+	Intron	SNP	C	C	T	rs544026827		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:42898673C>T	ENST00000372565.3	-	7	1245				ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12							intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAGAAACATCGTGAGCATCT	0.443																																																	0																																										SO:0001627	intron_variant	84217			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.975+140G>A	1.37:g.42898673C>T			Q5VUS6|Q8TC87|Q96M51	RNA	SNP	-	NULL	ENST00000372565.3	37	NULL	CCDS467.1	1																																																																																			ZMYND12	-	-		0.443	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND12	HGNC	protein_coding	OTTHUMT00000019170.1	C	NM_032257		42898673	-1	no_errors	ENST00000475426	ensembl	human	known	70_37	rna	SNP	0.000	T
ZMYND15	84225	genome.wustl.edu	37	17	4647739	4647739	+	Missense_Mutation	SNP	G	G	A	rs145111729		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:4647739G>A	ENST00000433935.1	+	10	1717	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	ZMYND15_ENST00000592813.1_Missense_Mutation_p.E515K|ZMYND15_ENST00000573751.2_Missense_Mutation_p.E554K|ZMYND15_ENST00000269289.6_Missense_Mutation_p.E515K	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	554					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CGAAAGCGACGAGCAGCATTT	0.602																																																	0								G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	72.0	75.0	74.0		1660,1543	1.0	1.0	17	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZMYND15	NM_001136046.1,NM_032265.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	554/743,515/704	4647739	1,13005	2203	4300	6503	SO:0001583	missense	84225			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1660G>A	17.37:g.4647739G>A	ENSP00000391742:p.Glu554Lys		B4DXY5|I3L296	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.E554K	ENST00000433935.1	37	c.1660	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	G	1.199	-0.633138	0.03584	0.0	1.16E-4	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.44482	0.94;0.92	5.32	0.99	0.19807	.	0.555807	0.17380	N	0.176334	T	0.21347	0.0514	N	0.08118	0	0.20764	N	0.999857	B;B	0.25272	0.122;0.006	B;B	0.18561	0.022;0.003	T	0.13899	-1.0492	10	0.35671	T	0.21	-6.4793	11.6298	0.51166	0.1354:0.3348:0.5297:0.0	.	554;515	B4DXY5;Q9H091	.;ZMY15_HUMAN	K	554;515	ENSP00000391742:E554K;ENSP00000269289:E515K	ENSP00000269289:E515K	E	+	1	0	ZMYND15	4594488	1.000000	0.71417	0.999000	0.59377	0.512000	0.34134	1.098000	0.31000	0.080000	0.16959	-0.927000	0.02713	GAG	ZMYND15	-	NULL		0.602	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1	G	NM_032265		4647739	+1	no_errors	ENST00000433935	ensembl	human	known	70_37	missense	SNP	0.998	A
ZMYND8	23613	genome.wustl.edu	37	20	45855964	45855964	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr20:45855964C>T	ENST00000311275.7	-	18	3191	c.2938G>A	c.(2938-2940)Gaa>Aaa	p.E980K	ZMYND8_ENST00000458360.2_Missense_Mutation_p.E848K|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E980K|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E929K|ZMYND8_ENST00000446994.2_Missense_Mutation_p.E871K|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E902K|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E1007K|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E928K|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E1000K|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E954K|ZMYND8_ENST00000262975.4_Missense_Mutation_p.E934K|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E954K|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E980K	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	980					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)			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)			TGTTTCATTTCGGAGAGCTCT	0.512																																																	0													186.0	152.0	163.0					20																	45855964		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.2938G>A	20.37:g.45855964C>T	ENSP00000312237:p.Glu980Lys		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.E1007K	ENST00000311275.7	37	c.3019		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.632900|4.632900	0.87660|0.87660	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T|.	0.75477|.	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;0.4;-0.94|.	5.74|5.74	4.8|4.8	0.61643|0.61643	.|.	0.048659|.	0.85682|.	N|.	0.000000|.	T|T	0.72953|0.72953	0.3525|0.3525	M|M	0.72353|0.72353	2.195|2.195	0.53005|0.53005	D|D	0.999963|0.999963	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.036;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.999;0.999;1.0;0.999|.	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.87578|.	0.008;0.998;0.995;0.991;0.998;0.998;0.996;0.996;0.998;0.995;0.995;0.995;0.98;0.972;0.991;0.995|.	T|T	0.73458|0.73458	-0.3976|-0.3976	10|5	0.49607|.	T|.	0.09|.	-21.9244|-21.9244	14.7152|14.7152	0.69262|0.69262	0.0:0.9307:0.0:0.0693|0.0:0.9307:0.0:0.0693	.|.	848;1007;902;909;1000;934;929;954;954;980;871;929;928;873;882;980|.	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	K|Q	929;980;848;935;1001;954;980;1007;980;871;954;902;928|861	ENSP00000354166:E929K;ENSP00000312237:E980K;ENSP00000392964:E848K;ENSP00000335537:E954K;ENSP00000379577:E980K;ENSP00000439800:E1007K;ENSP00000348246:E980K;ENSP00000396725:E871K;ENSP00000418210:E954K;ENSP00000361093:E902K;ENSP00000443086:E928K|.	ENSP00000262975:E935K|.	E|R	-|-	1|2	0|0	ZMYND8|ZMYND8	45289371|45289371	1.000000|1.000000	0.71417|0.71417	0.698000|0.698000	0.30274|0.30274	0.978000|0.978000	0.69477|0.69477	7.770000|7.770000	0.85390|0.85390	1.434000|1.434000	0.47414|0.47414	0.585000|0.585000	0.79938|0.79938	GAA|CGA	ZMYND8	-	NULL		0.512	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	C	NM_183047		45855964	-1	no_errors	ENST00000536340	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF121	7675	genome.wustl.edu	37	19	9676775	9676775	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9676775T>G	ENST00000586602.1	-	6	1430	c.1014A>C	c.(1012-1014)aaA>aaC	p.K338N	ZNF121_ENST00000320451.6_Missense_Mutation_p.K338N			P58317	ZN121_HUMAN	zinc finger protein 121	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						ATATATACGGTTTCTCTCCAG	0.403																																																	0													102.0	93.0	96.0					19																	9676775		2203	4300	6503	SO:0001583	missense	7675			M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.1014A>C	19.37:g.9676775T>G	ENSP00000468643:p.Lys338Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K338N	ENST00000586602.1	37	c.1014		19	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611161	0.66558	.	.	ENSG00000197961	ENST00000320451	T	0.26067	1.76	1.27	0.177	0.15054	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43033	0.1229	M	0.71036	2.16	0.25599	N	0.986612	D	0.89917	1.0	D	0.87578	0.998	T	0.20306	-1.0279	9	0.72032	D	0.01	.	4.5473	0.12087	0.0:0.2092:0.0:0.7908	.	338	P58317	ZN121_HUMAN	N	338	ENSP00000326967:K338N	ENSP00000326967:K338N	K	-	3	2	ZNF121	9537775	0.001000	0.12720	0.473000	0.27253	0.921000	0.55340	-1.010000	0.03656	0.007000	0.14760	0.397000	0.26171	AAA	ZNF121	-	pfscan_Znf_C2H2		0.403	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	ZNF121	HGNC	protein_coding	OTTHUMT00000449910.1	T	NM_001008727		9676775	-1	no_errors	ENST00000320451	ensembl	human	known	70_37	missense	SNP	0.998	G
ZNF157	7712	genome.wustl.edu	37	X	47272521	47272521	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:47272521G>T	ENST00000377073.3	+	4	1135	c.1049G>T	c.(1048-1050)aGa>aTa	p.R350I		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	350					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AATCATCAAAGAACTCACACA	0.418																																																	0													43.0	38.0	40.0					X																	47272521		2203	4300	6503	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1049G>T	X.37:g.47272521G>T	ENSP00000366273:p.Arg350Ile		Q96LE9	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.R350I	ENST00000377073.3	37	c.1049	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174045	0.57692	.	.	ENSG00000147117	ENST00000377073	T	0.02446	4.29	3.18	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	M	0.62209	1.925	0.39608	D	0.969838	D	0.76494	0.999	D	0.68943	0.961	T	0.03095	-1.1073	9	0.56958	D	0.05	.	9.3997	0.38424	0.0:0.2161:0.7839:0.0	.	350	P51786	ZN157_HUMAN	I	350	ENSP00000366273:R350I	ENSP00000366273:R350I	R	+	2	0	ZNF157	47157465	0.004000	0.15560	1.000000	0.80357	0.987000	0.75469	0.548000	0.23314	0.690000	0.31570	0.600000	0.82982	AGA	ZNF157	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	G	NM_003446		47272521	+1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF16	7564	genome.wustl.edu	37	8	146156819	146156819	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:146156819G>A	ENST00000276816.4	-	4	1540	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	ZNF16_ENST00000394909.2_Missense_Mutation_p.R452W	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	452					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGAATTCTCCGATGCTGAATA	0.478																																																	0													83.0	81.0	82.0					8																	146156819		2203	4300	6503	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1354C>T	8.37:g.146156819G>A	ENSP00000276816:p.Arg452Trp		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R452W	ENST00000276816.4	37	c.1354	CCDS6437.1	8	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599273	0.28534	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.18810	2.19;2.19	3.88	2.95	0.34219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41811	0.1175	M	0.64404	1.975	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.09100	-1.0690	9	0.87932	D	0	.	11.6581	0.51330	0.0:0.0:0.8223:0.1777	.	452	P17020	ZNF16_HUMAN	W	452	ENSP00000276816:R452W;ENSP00000378369:R452W	ENSP00000276816:R452W	R	-	1	2	ZNF16	146127623	0.001000	0.12720	0.322000	0.25334	0.349000	0.29174	1.000000	0.29770	1.985000	0.57927	0.462000	0.41574	CGG	ZNF16	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1	G	NM_006958		146156819	-1	no_errors	ENST00000276816	ensembl	human	known	70_37	missense	SNP	0.044	A
ZNF180	7733	genome.wustl.edu	37	19	44981496	44981496	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:44981496C>A	ENST00000221327.4	-	5	1483	c.1202G>T	c.(1201-1203)aGa>aTa	p.R401I	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.R376I|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Missense_Mutation_p.R374I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R401I(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGTATGAGTTCTCTGATGGGA	0.448																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												2	Substitution - Missense(2)	large_intestine(2)											66.0	68.0	67.0					19																	44981496		2203	4300	6503	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1202G>T	19.37:g.44981496C>A	ENSP00000221327:p.Arg401Ile		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	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.R401I	ENST00000221327.4	37	c.1202	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640143	0.67244	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24908	1.83;1.83	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000344	T	0.56077	0.1961	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.66979	0.877;0.948;0.948	T	0.63332	-0.6661	10	0.87932	D	0	-11.7145	17.8877	0.88862	0.0:1.0:0.0:0.0	.	376;400;401	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	401;376	ENSP00000221327:R401I;ENSP00000375818:R376I	ENSP00000221327:R401I	R	-	2	0	ZNF180	49673336	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.735000	0.26115	2.499000	0.84300	0.591000	0.81541	AGA	ZNF180	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	C	NM_013256		44981496	-1	no_errors	ENST00000221327	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF189	7743	genome.wustl.edu	37	9	104171026	104171026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:104171026C>T	ENST00000339664.2	+	3	1105	c.976C>T	c.(976-978)Cga>Tga	p.R326*	ZNF189_ENST00000374861.3_Nonsense_Mutation_p.R312*|ZNF189_ENST00000259395.4_Nonsense_Mutation_p.R284*	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	326					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAAAGCCTTTCGATTAAGCAC	0.398																																																	0													91.0	96.0	94.0					9																	104171026		2203	4300	6503	SO:0001587	stop_gained	7743			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.976C>T	9.37:g.104171026C>T	ENSP00000342019:p.Arg326*		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R326*	ENST00000339664.2	37	c.976	CCDS6754.1	9	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518361	0.85495	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	.	.	.	4.79	3.66	0.41972	.	0.000000	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	10.3015	0.43654	0.8251:0.1749:0.0:0.0	.	.	.	.	X	312;326;284	.	ENSP00000259395:R284X	R	+	1	2	ZNF189	103210847	0.255000	0.24002	1.000000	0.80357	0.990000	0.78478	1.609000	0.36858	1.162000	0.42619	-0.262000	0.10625	CGA	ZNF189	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF189	HGNC	protein_coding	OTTHUMT00000053447.1	C	NM_003452		104171026	+1	no_errors	ENST00000339664	ensembl	human	known	70_37	nonsense	SNP	0.970	T
ZNF2	7549	genome.wustl.edu	37	2	95847075	95847075	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:95847075C>A	ENST00000340539.5	+	5	964	c.502C>A	c.(502-504)Ctc>Atc	p.L168I	ZNF2_ENST00000295210.6_Missense_Mutation_p.L130I|ZNF2_ENST00000398107.2_Missense_Mutation_p.L126I|ZNF2_ENST00000453539.2_Missense_Mutation_p.L181I|ZNF2_ENST00000425369.1_Missense_Mutation_p.L88I	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CAGGGAAATTCTCACTAAAGA	0.557																																																	0													55.0	64.0	61.0					2																	95847075		2090	4257	6347	SO:0001583	missense	7549			X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.502C>A	2.37:g.95847075C>A	ENSP00000345392:p.Leu168Ile		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	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.L168I	ENST00000340539.5	37	c.502	CCDS42712.1	2	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399189	0.25291	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.06371	3.31;3.47;3.32;3.44;3.47	5.23	3.36	0.38483	.	0.704213	0.12381	N	0.473889	T	0.05318	0.0141	N	0.22421	0.69	0.09310	N	1	B;B;B	0.16396	0.01;0.017;0.008	B;B;B	0.14023	0.01;0.01;0.005	T	0.34700	-0.9818	10	0.87932	D	0	-3.5855	8.1421	0.31089	0.1699:0.637:0.1932:0.0	.	130;126;167	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	I	126;168;88;130;181	ENSP00000381178:L126I;ENSP00000345392:L168I;ENSP00000406017:L88I;ENSP00000295210:L130I;ENSP00000411051:L181I	ENSP00000295210:L130I	L	+	1	0	ZNF2	95210802	0.010000	0.17322	0.001000	0.08648	0.009000	0.06853	0.768000	0.26590	0.836000	0.34901	0.655000	0.94253	CTC	ZNF2	-	NULL		0.557	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF2	HGNC	protein_coding	OTTHUMT00000338595.2	C	NM_021088		95847075	+1	no_errors	ENST00000340539	ensembl	human	known	70_37	missense	SNP	0.025	A
ZNF208	7757	genome.wustl.edu	37	19	22156286	22156286	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:22156286C>A	ENST00000397126.4	-	4	1698	c.1550G>T	c.(1549-1551)aGa>aTa	p.R517I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATGAATTCTCTTATGTTC	0.388																																																	0													14.0	14.0	14.0					19																	22156286		692	1589	2281	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1550G>T	19.37:g.22156286C>A	ENSP00000380315:p.Arg517Ile			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.R517I	ENST00000397126.4	37	c.1550	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	7.225	0.598180	0.13939	.	.	ENSG00000160321	ENST00000397126	T	0.24908	1.83	2.98	-5.96	0.02234	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33445	-0.9868	6	0.40728	T	0.16	.	5.0173	0.14343	0.5497:0.2714:0.0:0.179	.	.	.	.	I	517	ENSP00000380315:R517I	ENSP00000380315:R517I	R	-	2	0	ZNF208	21948126	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.497000	0.06428	-1.149000	0.02843	-3.138000	0.00060	AGA	ZNF208	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	C	NM_007153		22156286	-1	no_errors	ENST00000397126	ensembl	human	novel	70_37	missense	SNP	0.000	A
ZNF229	7772	genome.wustl.edu	37	19	44933581	44933581	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:44933581T>G	ENST00000588931.1	-	6	1808	c.1375A>C	c.(1375-1377)Aag>Cag	p.K459Q	ZNF229_ENST00000291187.4_Missense_Mutation_p.K453Q|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTGTAGGGCTTTTCTCCAGGG	0.577																																																	0													59.0	66.0	63.0					19																	44933581		2186	4297	6483	SO:0001583	missense	7772			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1375A>C	19.37:g.44933581T>G	ENSP00000466519:p.Lys459Gln		B2RWN3|Q59FV2|Q86WL9	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.K459Q	ENST00000588931.1	37	c.1375	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220041	0.39201	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.74	2.71	0.32032	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36193	0.0958	L	0.49640	1.575	0.22982	N	0.998473	P	0.50819	0.939	P	0.46237	0.508	T	0.16541	-1.0399	8	0.87932	D	0	.	7.9143	0.29808	0.0:0.1048:0.0:0.8952	.	459	Q9UJW7	ZN229_HUMAN	Q	459	.	ENSP00000291187:K459Q	K	-	1	0	ZNF229	49625421	0.633000	0.27181	0.001000	0.08648	0.016000	0.09150	3.311000	0.51919	0.339000	0.23719	0.496000	0.49642	AAG	ZNF229	-	pfscan_Znf_C2H2		0.577	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	T	NM_014518		44933581	-1	no_errors	ENST00000588931	ensembl	human	known	70_37	missense	SNP	0.908	G
ZNF253	56242	genome.wustl.edu	37	19	20002715	20002715	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:20002715G>T	ENST00000589717.1	+	4	751	c.659G>T	c.(658-660)aGa>aTa	p.R220I	ZNF253_ENST00000355650.4_Missense_Mutation_p.R144I|CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	220				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R220I(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACACATAAGAGAATTCATACC	0.378																																																	2	Substitution - Missense(2)	large_intestine(2)											37.0	41.0	39.0					19																	20002715		2169	4277	6446	SO:0001583	missense	56242			AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.659G>T	19.37:g.20002715G>T	ENSP00000468720:p.Arg220Ile		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	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.R220I	ENST00000589717.1	37	c.659	CCDS42532.1	19	.	.	.	.	.	.	.	.	.	.	g	5.642	0.303048	0.10678	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45597	0.1350	M	0.64260	1.97	0.46222	D	0.998932	B	0.29162	0.235	B	0.24974	0.057	T	0.10800	-1.0614	7	.	.	.	.	5.676	0.17749	0.0:0.0:0.686:0.314	.	220	O75346	ZN253_HUMAN	I	220	.	.	R	+	2	0	ZNF253	19863715	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.087000	0.11215	-0.892000	0.03935	-0.901000	0.02856	AGA	ZNF253	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF253	HGNC	protein_coding	OTTHUMT00000460802.1	G	NM_021047		20002715	+1	no_errors	ENST00000589717	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF229	7772	genome.wustl.edu	37	19	44934110	44934110	+	Silent	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:44934110C>T	ENST00000588931.1	-	6	1279	c.846G>A	c.(844-846)ccG>ccA	p.P282P	ZNF229_ENST00000291187.4_Silent_p.P276P|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTTGGATGCGGGGGAAGGT	0.443																																																	0													69.0	66.0	67.0					19																	44934110		1935	4134	6069	SO:0001819	synonymous_variant	7772			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.846G>A	19.37:g.44934110C>T			B2RWN3|Q59FV2|Q86WL9	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.P282	ENST00000588931.1	37	c.846	CCDS42574.1	19																																																																																			ZNF229	-	NULL		0.443	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	C	NM_014518		44934110	-1	no_errors	ENST00000588931	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF256	10172	genome.wustl.edu	37	19	58453782	58453782	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:58453782A>G	ENST00000282308.3	-	3	590	c.394T>C	c.(394-396)Tac>Cac	p.Y132H	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	132					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TGATGAAGGTATGCAGTAAAT	0.443																																					NSCLC(55;1313 1552 8040 11996)												0													258.0	224.0	235.0					19																	58453782		2203	4300	6503	SO:0001583	missense	10172			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.394T>C	19.37:g.58453782A>G	ENSP00000282308:p.Tyr132His		B2RA92|Q53Y85|Q9BV71	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.Y132H	ENST00000282308.3	37	c.394	CCDS12966.1	19	.	.	.	.	.	.	.	.	.	.	.	11.90	1.777097	0.31411	.	.	ENSG00000152454	ENST00000282308	T	0.27402	1.67	3.35	-4.18	0.03846	.	.	.	.	.	T	0.09423	0.0232	N	0.04355	-0.22	0.09310	N	1	P	0.45902	0.868	B	0.39706	0.307	T	0.15694	-1.0428	9	0.21540	T	0.41	.	1.5066	0.02487	0.1716:0.2321:0.1068:0.4895	.	132	Q9Y2P7	ZN256_HUMAN	H	132	ENSP00000282308:Y132H	ENSP00000282308:Y132H	Y	-	1	0	ZNF256	63145594	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-1.909000	0.01586	-0.701000	0.05063	0.383000	0.25322	TAC	ZNF256	-	NULL		0.443	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF256	HGNC	protein_coding	OTTHUMT00000466702.1	A			58453782	-1	no_errors	ENST00000282308	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF280B	140883	genome.wustl.edu	37	22	22842318	22842318	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:22842318A>C	ENST00000406426.1	-	4	2148	c.1406T>G	c.(1405-1407)tTt>tGt	p.F469C	ZNF280B_ENST00000360412.2_Missense_Mutation_p.F469C			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAAAGTTAAAAACTGTAGCCG	0.408																																																	0													109.0	108.0	109.0					22																	22842318		2203	4300	6503	SO:0001583	missense	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1406T>G	22.37:g.22842318A>C	ENSP00000385998:p.Phe469Cys			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F469C	ENST00000406426.1	37	c.1406	CCDS13799.1	22	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878771	0.72294	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.70749	-0.51;-0.51	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	D	0.87577	0.6212	H	0.94734	3.575	0.48901	D	0.999723	D	0.89917	1.0	D	0.91635	0.999	D	0.90574	0.4524	9	0.87932	D	0	-17.1	12.726	0.57170	1.0:0.0:0.0:0.0	.	469	Q86YH2	Z280B_HUMAN	C	469	ENSP00000385998:F469C;ENSP00000353586:F469C	ENSP00000353586:F469C	F	-	2	0	ZNF280B	21172318	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.980000	0.70516	2.172000	0.68678	0.533000	0.62120	TTT	ZNF280B	-	smart_Znf_C2H2-like		0.408	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280B	HGNC	protein_coding	OTTHUMT00000321170.2	A	NM_080764		22842318	-1	no_errors	ENST00000360412	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF280B	140883	genome.wustl.edu	37	22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr22:22842526C>T	ENST00000406426.1	-	4	1940	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E400K			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433																																																	0													117.0	111.0	113.0					22																	22842526		2203	4300	6503	SO:0001583	missense	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1198G>A	22.37:g.22842526C>T	ENSP00000385998:p.Glu400Lys			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E400K	ENST00000406426.1	37	c.1198	CCDS13799.1	22	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382835	0.82792	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.34859	1.34;1.34	4.85	3.84	0.44239	.	.	.	.	.	T	0.52025	0.1709	M	0.71920	2.185	0.47476	D	0.999439	D	0.64830	0.994	P	0.59643	0.861	T	0.55347	-0.8155	9	0.56958	D	0.05	-14.3647	11.0776	0.48040	0.0:0.9097:0.0:0.0903	.	400	Q86YH2	Z280B_HUMAN	K	400	ENSP00000385998:E400K;ENSP00000353586:E400K	ENSP00000353586:E400K	E	-	1	0	ZNF280B	21172526	1.000000	0.71417	0.907000	0.35723	0.861000	0.49209	6.799000	0.75160	1.417000	0.47077	0.655000	0.94253	GAA	ZNF280B	-	NULL		0.433	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280B	HGNC	protein_coding	OTTHUMT00000321170.2	C	NM_080764		22842526	-1	no_errors	ENST00000360412	ensembl	human	known	70_37	missense	SNP	0.998	T
ZNF283	284349	genome.wustl.edu	37	19	44352021	44352021	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:44352021G>T	ENST00000324461.7	+	7	1565	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	ZNF283_ENST00000588797.1_Missense_Mutation_p.R284I	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	423					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.R423I(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CAACATGAAAGAATTCATACT	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											66.0	75.0	72.0					19																	44352021		2198	4294	6492	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1268G>T	19.37:g.44352021G>T	ENSP00000327314:p.Arg423Ile		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	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.R423I	ENST00000324461.7	37	c.1268	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756537	0.49362	.	.	ENSG00000167637	ENST00000324461	T	0.24908	1.83	3.05	2.0	0.26442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35856	0.0946	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.10177	-1.0641	9	0.66056	D	0.02	.	5.8832	0.18866	0.1198:0.1982:0.682:0.0	.	423	Q8N7M2	ZN283_HUMAN	I	423	ENSP00000327314:R423I	ENSP00000327314:R423I	R	+	2	0	ZNF283	49043861	0.000000	0.05858	0.338000	0.25549	0.920000	0.55202	0.165000	0.16564	0.612000	0.30071	0.462000	0.41574	AGA	ZNF283	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	G	NM_181845		44352021	+1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.893	T
ZNF283	284349	genome.wustl.edu	37	19	44352726	44352726	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:44352726A>G	ENST00000324461.7	+	7	2270	c.1973A>G	c.(1972-1974)gAa>gGa	p.E658G	ZNF283_ENST00000588797.1_Missense_Mutation_p.E519G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	658					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(3)|lung(4)	8		Prostate(69;0.0352)				AAATATAACGAATGTGGGGAA	0.348																																																	0													71.0	76.0	74.0					19																	44352726		1908	4123	6031	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1973A>G	19.37:g.44352726A>G	ENSP00000327314:p.Glu658Gly		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	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.E658G	ENST00000324461.7	37	c.1973	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	A	10.95	1.494501	0.26774	.	.	ENSG00000167637	ENST00000324461	T	0.47177	0.85	2.78	0.578	0.17391	.	.	.	.	.	T	0.40448	0.1117	L	0.59967	1.855	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39461	-0.9613	9	0.72032	D	0.01	.	5.8416	0.18637	0.7429:0.0:0.2571:0.0	.	658	Q8N7M2	ZN283_HUMAN	G	658	ENSP00000327314:E658G	ENSP00000327314:E658G	E	+	2	0	ZNF283	49044566	0.000000	0.05858	0.008000	0.14137	0.263000	0.26337	0.231000	0.17872	-0.055000	0.13244	0.455000	0.32223	GAA	ZNF283	-	NULL		0.348	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	A	NM_181845		44352726	+1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.029	G
ZNF300	91975	genome.wustl.edu	37	5	150275824	150275824	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:150275824T>G	ENST00000274599.5	-	6	1397	c.977A>C	c.(976-978)gAt>gCt	p.D326A	ZNF300_ENST00000394226.2_Missense_Mutation_p.D326A|ZNF300_ENST00000446148.2_Missense_Mutation_p.D342A|ZNF300_ENST00000418587.2_Missense_Mutation_p.D290A|ZNF300_ENST00000427179.1_3'UTR	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	326					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(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGAACAATCATAAGGTTT	0.418																																																	0													81.0	86.0	84.0					5																	150275824		2202	4298	6500	SO:0001583	missense	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.977A>C	5.37:g.150275824T>G	ENSP00000274599:p.Asp326Ala		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	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.D342A	ENST00000274599.5	37	c.1025	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	T	9.063	0.995025	0.19043	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	3.59	2.42	0.29668	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05410	0.0143	N	0.01576	-0.805	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.33979	-0.9847	9	0.37606	T	0.19	.	3.6273	0.08117	0.0:0.1228:0.2289:0.6483	.	326	Q96RE9	ZN300_HUMAN	A	342;326;290;326	ENSP00000397178:D342A;ENSP00000274599:D326A;ENSP00000392593:D290A;ENSP00000377773:D326A	ENSP00000274599:D326A	D	-	2	0	ZNF300	150256017	0.000000	0.05858	0.974000	0.42286	0.995000	0.86356	-0.662000	0.05305	0.581000	0.29539	0.460000	0.39030	GAT	ZNF300	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		T	NM_052860		150275824	-1	no_errors	ENST00000446148	ensembl	human	known	70_37	missense	SNP	0.079	G
ZNF300P1	134466	genome.wustl.edu	37	5	150310854	150310854	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:150310854C>A	ENST00000520773.1	-	0	2467									zinc finger protein 300 pseudogene 1 (functional)																		AGTGTGAACTCTTTAATGTAT	0.413																																																	0																																												134466			AK096536		5q33.1	2014-09-11	2014-01-16		ENSG00000197083	ENSG00000197083		"""-"""	27032	pseudogene	pseudogene			"""zinc finger protein 300 pseudogene 1"""			24393131	Standard	NR_026867		Approved		uc003lsz.1		OTTHUMG00000154830		5.37:g.150310854C>A				RNA	SNP	-	NULL	ENST00000520773.1	37	NULL		5																																																																																			ZNF300P1	-	-		0.413	ZNF300P1-002	KNOWN	basic	processed_transcript	ZNF300P1	HGNC	pseudogene	OTTHUMT00000374771.1	C	NR_026867		150310854	-1	no_errors	ENST00000520773	ensembl	human	known	70_37	rna	SNP	0.999	A
ZNF304	57343	genome.wustl.edu	37	19	57869030	57869030	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:57869030G>A	ENST00000282286.5	+	3	1966	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	ZNF304_ENST00000598744.1_Missense_Mutation_p.R556H|ZNF304_ENST00000443917.2_Missense_Mutation_p.R645H|ZNF304_ENST00000391705.3_Missense_Mutation_p.R598H			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	598					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(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TTCTTTAGCCGCAACTCTGGC	0.478																																																	0													76.0	70.0	72.0					19																	57869030		2203	4300	6503	SO:0001583	missense	57343			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1793G>A	19.37:g.57869030G>A	ENSP00000282286:p.Arg598His			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.R598H	ENST00000282286.5	37	c.1793	CCDS12950.1	19	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789285	0.49997	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.15718	2.4;2.4;2.4	3.65	2.57	0.30868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18882	0.0453	N	0.25245	0.725	0.22185	N	0.999308	P;D	0.89917	0.859;1.0	B;P	0.61658	0.108;0.892	T	0.11203	-1.0597	9	0.12103	T	0.63	.	8.0331	0.30476	0.0:0.1748:0.6453:0.1798	.	598;645	Q9HCX3;E7EQD3	ZN304_HUMAN;.	H	598;598;645	ENSP00000282286:R598H;ENSP00000375586:R598H;ENSP00000401642:R645H	ENSP00000282286:R598H	R	+	2	0	ZNF304	62560842	0.000000	0.05858	0.920000	0.36463	0.988000	0.76386	-0.235000	0.09016	1.069000	0.40788	0.650000	0.86243	CGC	ZNF304	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF304	HGNC	protein_coding	OTTHUMT00000465785.1	G			57869030	+1	no_errors	ENST00000282286	ensembl	human	known	70_37	missense	SNP	0.751	A
ZNF329	79673	genome.wustl.edu	37	19	58640843	58640843	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:58640843A>C	ENST00000598312.1	-	4	261	c.28T>G	c.(28-30)Ttt>Gtt	p.F10V	ZNF329_ENST00000358067.4_Missense_Mutation_p.F10V	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	10					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)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CTCTCAGGAAAATTCCGAGTC	0.403																																																	0													123.0	127.0	126.0					19																	58640843		2203	4300	6503	SO:0001583	missense	79673			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.28T>G	19.37:g.58640843A>C	ENSP00000470008:p.Phe10Val		B3KR32|Q9H9R7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F10V	ENST00000598312.1	37	c.28	CCDS12972.1	19	.	.	.	.	.	.	.	.	.	.	A	0.279	-0.987365	0.02180	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.05580	3.42;3.42	4.58	-0.116	0.13555	.	0.833678	0.10157	N	0.708824	T	0.02342	0.0072	N	0.03608	-0.345	0.20563	N	0.999884	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	10	0.19590	T	0.45	-2.3945	3.3602	0.07184	0.1928:0.39:0.0:0.4172	.	10	Q86UD4	ZN329_HUMAN	V	10	ENSP00000350773:F10V;ENSP00000439527:F10V	ENSP00000350773:F10V	F	-	1	0	ZNF329	63332655	0.000000	0.05858	0.831000	0.32960	0.032000	0.12392	-0.547000	0.06055	-0.065000	0.13021	-0.275000	0.10095	TTT	ZNF329	-	NULL		0.403	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF329	HGNC	protein_coding	OTTHUMT00000466724.1	A	NM_024620		58640843	-1	no_errors	ENST00000358067	ensembl	human	known	70_37	missense	SNP	0.997	C
ZNF330	27309	genome.wustl.edu	37	4	142145644	142145644	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:142145644T>G	ENST00000262990.4	+	3	352	c.124T>G	c.(124-126)Tgt>Ggt	p.C42G	ZNF330_ENST00000421169.2_Missense_Mutation_p.N5K	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	42						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GTTACAGGAATGTGACAAGTG	0.264																																																	0													79.0	86.0	83.0					4																	142145644		2201	4295	6496	SO:0001583	missense	27309			AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.124T>G	4.37:g.142145644T>G	ENSP00000262990:p.Cys42Gly		B2RDA3	Missense_Mutation	SNP	pfam_NOA36	p.C42G	ENST00000262990.4	37	c.124	CCDS3754.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.576952|4.576952	0.86645|0.86645	.|.	.|.	ENSG00000109445|ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000503649;ENST00000512738|ENST00000421169	T;T;T;T|T	0.44482|0.41065	0.92;0.92;0.92;0.92|1.01	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47229|0.47229	0.1434|0.1434	M|M	0.80982|0.80982	2.52|2.52	0.43750|0.43750	D|D	0.996259|0.996259	D|B	0.69078|0.33694	0.997|0.421	D|B	0.81914|0.25140	0.995|0.058	T|T	0.52953|0.52953	-0.8506|-0.8506	10|9	0.87932|0.87932	D|D	0|0	-10.9876|-10.9876	16.8061|16.8061	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	42|5	Q9Y3S2|E9PDK6	ZN330_HUMAN|.	G|K	42|5	ENSP00000262990:C42G;ENSP00000422599:C42G;ENSP00000422966:C42G;ENSP00000422251:C42G|ENSP00000397397:N5K	ENSP00000262990:C42G|ENSP00000397397:N5K	C|N	+|+	1|3	0|2	ZNF330|ZNF330	142365094|142365094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.425000|7.425000	0.80255|0.80255	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	TGT|AAT	ZNF330	-	pfam_NOA36		0.264	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF330	HGNC	protein_coding	OTTHUMT00000257271.2	T	NM_014487		142145644	+1	no_errors	ENST00000262990	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF345	25850	genome.wustl.edu	37	19	37368187	37368187	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:37368187G>T	ENST00000529555.1	+	2	1243	c.455G>T	c.(454-456)gGg>gTg	p.G152V	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.G152V|ZNF345_ENST00000589046.1_Missense_Mutation_p.G152V			Q14585	ZN345_HUMAN	zinc finger protein 345	152					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGAATGTGGGAAAGCCTTT	0.423																																																	0													74.0	70.0	71.0					19																	37368187		2203	4300	6503	SO:0001583	missense	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.455G>T	19.37:g.37368187G>T	ENSP00000431202:p.Gly152Val			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G152V	ENST00000529555.1	37	c.455	CCDS12497.1	19	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010311	0.54361	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	T;T	0.23754	1.89;1.89	4.14	3.1	0.35709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55033	0.1895	M	0.91920	3.255	0.50467	D	0.99987	D	0.89917	1.0	D	0.85130	0.997	T	0.62671	-0.6805	8	.	.	.	.	9.6225	0.39730	0.1083:0.0:0.8917:0.0	.	152	Q14585	ZN345_HUMAN	V	152	ENSP00000431216:G152V;ENSP00000431202:G152V	.	G	+	2	0	ZNF345	42060027	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.446000	0.35090	2.280000	0.76307	0.561000	0.74099	GGG	ZNF345	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF345	HGNC	protein_coding	OTTHUMT00000388258.1	G			37368187	+1	no_errors	ENST00000420450	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF345	25850	genome.wustl.edu	37	19	37368458	37368458	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:37368458T>G	ENST00000529555.1	+	2	1514	c.726T>G	c.(724-726)ggT>ggG	p.G242G	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Silent_p.G242G|ZNF345_ENST00000589046.1_Silent_p.G242G			Q14585	ZN345_HUMAN	zinc finger protein 345	242					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGCAGTGGTTCGGCTCTTA	0.443																																																	0													79.0	77.0	78.0					19																	37368458		2203	4300	6503	SO:0001819	synonymous_variant	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.726T>G	19.37:g.37368458T>G				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G242	ENST00000529555.1	37	c.726	CCDS12497.1	19																																																																																			ZNF345	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF345	HGNC	protein_coding	OTTHUMT00000388258.1	T			37368458	+1	no_errors	ENST00000420450	ensembl	human	known	70_37	silent	SNP	0.027	G
ZNF347	84671	genome.wustl.edu	37	19	53652026	53652026	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53652026A>G	ENST00000334197.7	-	4	247	c.179T>C	c.(178-180)tTg>tCg	p.L60S	ZNF347_ENST00000452676.2_Missense_Mutation_p.L61S|ZNF347_ENST00000601804.1_Missense_Mutation_p.L2S|ZNF347_ENST00000601469.2_Missense_Mutation_p.L61S	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCCTTGCTCCAACATAGAGAT	0.423																																					Melanoma(64;205 1597 17324 45721)												0													204.0	188.0	194.0					19																	53652026		2203	4300	6503	SO:0001583	missense	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.179T>C	19.37:g.53652026A>G	ENSP00000334146:p.Leu60Ser		B3KU77|B9EG59|G5E9N4|Q8TCN1	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.L61S	ENST00000334197.7	37	c.182	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656560	0.29425	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.01005	5.45;5.45	1.82	1.82	0.25136	Krueppel-associated box (3);	.	.	.	.	T	0.03783	0.0107	M	0.90198	3.095	0.09310	N	1	D;P	0.61697	0.99;0.675	P;B	0.55260	0.772;0.074	T	0.28299	-1.0048	9	0.42905	T	0.14	.	5.68	0.17769	1.0:0.0:0.0:0.0	.	61;60	G5E9N4;Q96SE7	.;ZN347_HUMAN	S	60;61	ENSP00000334146:L60S;ENSP00000405218:L61S	ENSP00000334146:L60S	L	-	2	0	ZNF347	58343838	0.006000	0.16342	0.002000	0.10522	0.092000	0.18411	1.220000	0.32491	1.097000	0.41459	0.477000	0.44152	TTG	ZNF347	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	A	NM_032584		53652026	-1	no_errors	ENST00000452676	ensembl	human	known	70_37	missense	SNP	0.001	G
ZNF331	55422	genome.wustl.edu	37	19	54080602	54080602	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:54080602G>T	ENST00000253144.9	+	7	2121	c.788G>T	c.(787-789)aGa>aTa	p.R263I	ZNF331_ENST00000511593.2_Missense_Mutation_p.R263I|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511154.1_Missense_Mutation_p.R263I|ZNF331_ENST00000449416.1_Missense_Mutation_p.R263I|ZNF331_ENST00000512387.1_Missense_Mutation_p.R263I|ZNF331_ENST00000411977.2_Missense_Mutation_p.R263I|ZNF331_ENST00000513999.1_Missense_Mutation_p.R263I	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CAGCACAAGAGAATTCATAGT	0.443			T	?	follicular thyroid adenoma																																			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													59.0	64.0	62.0					19																	54080602		2203	4300	6503	SO:0001583	missense	55422			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.788G>T	19.37:g.54080602G>T	ENSP00000253144:p.Arg263Ile		Q96GJ4	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.R263I	ENST00000253144.9	37	c.788	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181259	0.78677	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.02446	4.29;4.29;4.29;4.29;4.29;4.29;4.29	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32970	N	0.005435	T	0.11750	0.0286	M	0.64997	1.995	0.45580	D	0.998524	D	0.89917	1.0	D	0.91635	0.999	T	0.01386	-1.1368	10	0.52906	T	0.07	.	13.245	0.60018	0.0:0.0:1.0:0.0	.	263	Q9NQX6	ZN331_HUMAN	I	263	ENSP00000253144:R263I;ENSP00000427439:R263I;ENSP00000393817:R263I;ENSP00000393336:R263I;ENSP00000421014:R263I;ENSP00000423156:R263I;ENSP00000421728:R263I	ENSP00000253144:R263I	R	+	2	0	ZNF331	58772414	0.016000	0.18221	0.947000	0.38551	0.896000	0.52359	1.893000	0.39758	2.049000	0.60858	0.563000	0.77884	AGA	ZNF331	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	HGNC	protein_coding	OTTHUMT00000371366.1	G	NM_018555		54080602	+1	no_errors	ENST00000253144	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF354C	30832	genome.wustl.edu	37	5	178506476	178506476	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:178506476G>T	ENST00000315475.6	+	5	1349	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	348					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(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AGGCATCAAAGAATCCATACA	0.423																																																	0													143.0	154.0	150.0					5																	178506476		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1043G>T	5.37:g.178506476G>T	ENSP00000324064:p.Arg348Ile		Q6P4P9|Q8NFX1	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.R348I	ENST00000315475.6	37	c.1043	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307499	0.60305	.	.	ENSG00000177932	ENST00000315475	T	0.24908	1.83	4.04	3.17	0.36434	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30727	0.0774	L	0.56199	1.76	0.44188	D	0.997001	D	0.52996	0.957	P	0.52909	0.713	T	0.04333	-1.0959	9	0.45353	T	0.12	-8.7618	5.1462	0.14987	0.1073:0.0:0.6892:0.2035	.	348	Q86Y25	Z354C_HUMAN	I	348	ENSP00000324064:R348I	ENSP00000324064:R348I	R	+	2	0	ZNF354C	178439082	0.000000	0.05858	0.969000	0.41365	0.992000	0.81027	0.098000	0.15189	1.033000	0.39918	0.591000	0.81541	AGA	ZNF354C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	G			178506476	+1	no_errors	ENST00000315475	ensembl	human	known	70_37	missense	SNP	0.963	T
ZNF391	346157	genome.wustl.edu	37	6	27369123	27369123	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:27369123G>T	ENST00000244576.4	+	3	1519	c.974G>T	c.(973-975)aGa>aTa	p.R325I	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	325					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.R325I(1)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ATTCATCAGAGAACTCATACC	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)											65.0	68.0	67.0					6																	27369123		2030	4233	6263	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.974G>T	6.37:g.27369123G>T	ENSP00000244576:p.Arg325Ile		B4DH77	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R325I	ENST00000244576.4	37	c.974	CCDS43429.1	6	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947983	0.53186	.	.	ENSG00000124613	ENST00000244576	T	0.24908	1.83	3.91	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27313	0.0670	L	0.60957	1.885	0.41659	D	0.989175	D	0.61697	0.99	D	0.66602	0.945	T	0.05616	-1.0874	9	0.66056	D	0.02	.	6.7838	0.23662	0.2387:0.0:0.7613:0.0	.	325	Q9UJN7	ZN391_HUMAN	I	325	ENSP00000244576:R325I	ENSP00000244576:R325I	R	+	2	0	ZNF391	27477102	0.003000	0.15002	0.996000	0.52242	0.505000	0.33919	0.500000	0.22562	0.610000	0.30035	0.557000	0.71058	AGA	ZNF391	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF391	HGNC	protein_coding	OTTHUMT00000040145.2	G	NM_001076781		27369123	+1	no_errors	ENST00000244576	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF404	342908	genome.wustl.edu	37	19	44376971	44376971	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:44376971T>G	ENST00000587539.1	-	3	1394	c.1395A>C	c.(1393-1395)aaA>aaC	p.K465N	ZNF404_ENST00000324394.6_Missense_Mutation_p.K463N	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	465					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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				ATACATAGGGTTTCAAACCAG	0.348																																																	0													37.0	40.0	39.0					19																	44376971		2141	4258	6399	SO:0001583	missense	342908			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1395A>C	19.37:g.44376971T>G	ENSP00000466051:p.Lys465Asn		A4FU30|K7ELF2	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.K465N	ENST00000587539.1	37	c.1395	CCDS59394.1	19	.	.	.	.	.	.	.	.	.	.	T	14.04	2.415682	0.42817	.	.	ENSG00000176222	ENST00000324394	T	0.26067	1.76	2.34	2.34	0.29019	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46927	0.1418	M	0.70903	2.155	0.26338	N	0.977415	D	0.89917	1.0	D	0.91635	0.999	T	0.19160	-1.0314	9	0.87932	D	0	.	9.3326	0.38032	0.0:0.0:0.0:1.0	.	465	Q494X3	ZN404_HUMAN	N	463	ENSP00000319479:K463N	ENSP00000319479:K463N	K	-	3	2	ZNF404	49068811	0.008000	0.16893	0.961000	0.40146	0.936000	0.57629	-0.353000	0.07691	1.060000	0.40578	0.438000	0.28831	AAA	ZNF404	-	pfscan_Znf_C2H2		0.348	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	HGNC	protein_coding	OTTHUMT00000460019.1	T	NM_001033719		44376971	-1	no_errors	ENST00000587539	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF41	7592	genome.wustl.edu	37	X	47307793	47307793	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:47307793C>A	ENST00000377065.4	-	5	2015	c.1376G>T	c.(1375-1377)aGa>aTa	p.R459I	ZNF41_ENST00000397050.2_Missense_Mutation_p.R469I|ZNF41_ENST00000313116.7_Missense_Mutation_p.R459I|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AGTATGAATTCTCTGATGTGT	0.453																																																	0													85.0	79.0	81.0					X																	47307793		2203	4300	6503	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1376G>T	X.37:g.47307793C>A	ENSP00000366265:p.Arg459Ile		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	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.R469I	ENST00000377065.4	37	c.1406	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834255	0.50951	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.24908	1.83;1.83;1.83	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38436	N	0.001693	T	0.40145	0.1105	L	0.49778	1.585	0.38259	D	0.941824	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.951;0.951;0.998;0.967;0.98	T	0.25745	-1.0123	10	0.41790	T	0.15	.	8.836	0.35113	0.0:0.7755:0.2245:0.0	.	459;461;469;493;501	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	I	459;459;469	ENSP00000315173:R459I;ENSP00000366265:R459I;ENSP00000380243:R469I	ENSP00000315173:R459I	R	-	2	0	ZNF41	47192737	0.002000	0.14202	1.000000	0.80357	0.942000	0.58702	0.114000	0.15520	2.246000	0.74042	0.600000	0.82982	AGA	ZNF41	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	C	NM_153380		47307793	-1	no_errors	ENST00000397050	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF41	7592	genome.wustl.edu	37	X	47307961	47307961	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:47307961T>A	ENST00000377065.4	-	5	1847	c.1208A>T	c.(1207-1209)aAa>aTa	p.K403I	ZNF41_ENST00000397050.2_Missense_Mutation_p.K413I|ZNF41_ENST00000313116.7_Missense_Mutation_p.K403I|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GGTATGAGTTTTCTGATGTAT	0.423																																																	0													90.0	83.0	85.0					X																	47307961		2203	4300	6503	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1208A>T	X.37:g.47307961T>A	ENSP00000366265:p.Lys403Ile		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	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.K413I	ENST00000377065.4	37	c.1238	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851495	0.51270	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.01092	5.35;5.35;5.35	3.57	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37530	N	0.002055	T	0.02649	0.0080	L	0.38838	1.175	0.22591	N	0.998959	D;D;D;D;D	0.89917	0.997;0.997;1.0;0.997;0.998	D;D;D;D;D	0.91635	0.931;0.931;0.999;0.931;0.959	T	0.42344	-0.9457	10	0.66056	D	0.02	.	5.4847	0.16743	0.0:0.4049:0.0:0.5951	.	403;405;413;437;445	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	I	403;403;413	ENSP00000315173:K403I;ENSP00000366265:K403I;ENSP00000380243:K413I	ENSP00000315173:K403I	K	-	2	0	ZNF41	47192905	0.000000	0.05858	0.991000	0.47740	0.995000	0.86356	-0.156000	0.10100	0.143000	0.18926	0.481000	0.45027	AAA	ZNF41	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	T	NM_153380		47307961	-1	no_errors	ENST00000397050	ensembl	human	known	70_37	missense	SNP	0.994	A
ZNF415	55786	genome.wustl.edu	37	19	53611640	53611640	+	Missense_Mutation	SNP	T	T	G	rs199741749		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53611640T>G	ENST00000500065.4	-	4	1991	c.1658A>C	c.(1657-1659)aAa>aCa	p.K553T	ZNF415_ENST00000448501.1_Missense_Mutation_p.K601T|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.K601T|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.K565T|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.K553T|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.K540T|ZNF415_ENST00000601493.1_Missense_Mutation_p.K323T	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	601					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TTAATTTCTTTTATAAGGTTT	0.348																																																	0													69.0	71.0	70.0					19																	53611640		2203	4300	6503	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1658A>C	19.37:g.53611640T>G	ENSP00000439435:p.Lys553Thr		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.K601T	ENST00000500065.4	37	c.1802	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648694	0.47258	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.16073	2.37;2.37;3.01;3.03;3.01;2.37	2.6	0.0292	0.14161	.	.	.	.	.	T	0.09992	0.0245	N	0.20766	0.605	0.09310	N	1	B;B;B;B;B;B	0.31837	0.051;0.231;0.03;0.051;0.051;0.342	B;B;B;B;B;B	0.31946	0.025;0.105;0.011;0.025;0.025;0.138	T	0.28902	-1.0029	9	0.59425	D	0.04	.	5.362	0.16093	0.1765:0.0:0.5265:0.297	.	553;601;601;553;540;565	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	T	553;553;601;565;601;540	ENSP00000243643:K553T;ENSP00000439435:K553T;ENSP00000396492:K601T;ENSP00000395055:K565T;ENSP00000388787:K601T;ENSP00000414601:K540T	ENSP00000243643:K553T	K	-	2	0	ZNF415	58303452	0.000000	0.05858	0.000000	0.03702	0.568000	0.35870	-1.372000	0.02570	-0.190000	0.10465	0.260000	0.18958	AAA	ZNF415	-	NULL		0.348	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	T	NM_018355		53611640	-1	no_errors	ENST00000448501	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF415	55786	genome.wustl.edu	37	19	53619657	53619657	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53619657G>T	ENST00000500065.4	-	3	378	c.45C>A	c.(43-45)ttC>ttA	p.F15L	ZNF415_ENST00000448501.1_5'UTR|ZNF415_ENST00000597748.1_Missense_Mutation_p.F15L|ZNF415_ENST00000595813.1_Missense_Mutation_p.F15L|ZNF415_ENST00000455735.2_5'UTR|ZNF415_ENST00000595193.1_Missense_Mutation_p.F15L|ZNF415_ENST00000421033.1_5'UTR|ZNF415_ENST00000594011.1_Missense_Mutation_p.F15L|ZNF415_ENST00000243643.4_Missense_Mutation_p.F15L|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000599261.1_Missense_Mutation_p.F15L|ZNF415_ENST00000597503.1_Missense_Mutation_p.F15L|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000600574.1_Missense_Mutation_p.F15L|ZNF415_ENST00000601493.1_Intron	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CATCTTGAGAGAATTCGATGG	0.433																																																	0													118.0	113.0	115.0					19																	53619657		2203	4300	6503	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.45C>A	19.37:g.53619657G>T	ENSP00000439435:p.Phe15Leu		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F15L	ENST00000500065.4	37	c.45	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104545	0.37145	.	.	ENSG00000170954	ENST00000243643;ENST00000500065	T;T	0.12879	2.64;2.64	2.94	1.89	0.25635	.	.	.	.	.	T	0.26011	0.0634	L	0.51914	1.62	0.21290	N	0.999739	D;P	0.76494	0.999;0.865	D;P	0.80764	0.994;0.452	T	0.05699	-1.0869	9	0.59425	D	0.04	.	5.7703	0.18249	0.1554:0.0:0.8446:0.0	.	15;15	F5H287;Q09FC8-5	.;.	L	15	ENSP00000243643:F15L;ENSP00000439435:F15L	ENSP00000243643:F15L	F	-	3	2	ZNF415	58311469	0.983000	0.35010	0.031000	0.17742	0.379000	0.30106	1.947000	0.40293	0.574000	0.29417	0.455000	0.32223	TTC	ZNF415	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.433	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	G	NM_018355		53619657	-1	no_errors	ENST00000243643	ensembl	human	known	70_37	missense	SNP	0.052	T
ZNF420	147923	genome.wustl.edu	37	19	37619728	37619728	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:37619728A>G	ENST00000337995.3	+	5	2050	c.1835A>G	c.(1834-1836)gAg>gGg	p.E612G	CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_3'UTR	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATACTGGTGAGAAGCCCTAT	0.433																																																	0													69.0	66.0	67.0					19																	37619728		2203	4300	6503	SO:0001583	missense	147923			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1835A>G	19.37:g.37619728A>G	ENSP00000338770:p.Glu612Gly		B2RDY6|Q96ML5	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.E612G	ENST00000337995.3	37	c.1835	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	A	15.18	2.758292	0.49468	.	.	ENSG00000197050	ENST00000337995	T	0.27557	1.66	4.28	4.28	0.50868	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40196	0.1107	L	0.37697	1.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13926	-1.0491	8	.	.	.	.	7.8581	0.29493	0.9001:0.0:0.0999:0.0	.	612	Q8TAQ5	ZN420_HUMAN	G	612	ENSP00000338770:E612G	.	E	+	2	0	ZNF420	42311568	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	3.789000	0.55454	1.793000	0.52555	0.533000	0.62120	GAG	ZNF420	-	pfscan_Znf_C2H2		0.433	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	A	NM_144689		37619728	+1	no_errors	ENST00000337995	ensembl	human	known	70_37	missense	SNP	0.998	G
ZNF417	147687	genome.wustl.edu	37	19	58420963	58420963	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:58420963A>C	ENST00000312026.5	-	3	847	c.683T>G	c.(682-684)aTt>aGt	p.I228S	ZNF417_ENST00000536263.1_Missense_Mutation_p.I29S|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.I227S	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	228					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(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTGGTGTGGAATAACTGAGTG	0.418																																																	0													15.0	16.0	16.0					19																	58420963		2041	4181	6222	SO:0001583	missense	147687			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.683T>G	19.37:g.58420963A>C	ENSP00000311319:p.Ile228Ser		B4DEU1	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.I228S	ENST00000312026.5	37	c.683	CCDS12965.1	19	.	.	.	.	.	.	.	.	.	.	.	5.917	0.353280	0.11182	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.28454	1.61;1.61	2.31	-0.095	0.13643	.	.	.	.	.	T	0.15955	0.0384	L	0.33245	0.995	0.09310	N	1	B;B	0.24426	0.103;0.0	B;B	0.19391	0.025;0.001	T	0.33624	-0.9861	9	0.07813	T	0.8	.	3.5145	0.07719	0.6303:0.2287:0.1411:0.0	.	228;228	F5H0M9;Q8TAU3	.;ZN417_HUMAN	S	228;29	ENSP00000311319:I228S;ENSP00000442760:I29S	ENSP00000311319:I228S	I	-	2	0	ZNF417	63112775	0.000000	0.05858	0.001000	0.08648	0.256000	0.26092	-0.515000	0.06290	-0.256000	0.09473	-0.782000	0.03352	ATT	ZNF417	-	NULL		0.418	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF417	HGNC	protein_coding	OTTHUMT00000466860.1	A	NM_152475		58420963	-1	no_errors	ENST00000312026	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF425	155054	genome.wustl.edu	37	7	148802632	148802632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:148802632C>A	ENST00000378061.2	-	4	463	c.331G>T	c.(331-333)Gaa>Taa	p.E111*		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	111					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E111Q(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CAATCCTCTTCTTTTGTCCTG	0.423																																																	1	Substitution - Missense(1)	large_intestine(1)											83.0	79.0	80.0					7																	148802632		2203	4300	6503	SO:0001587	stop_gained	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.331G>T	7.37:g.148802632C>A	ENSP00000367300:p.Glu111*		B3KPM1|Q08AG3	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E111*	ENST00000378061.2	37	c.331	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	8.295	0.818523	0.16607	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	.	.	.	2.45	-0.615	0.11587	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	6.4511	0.21903	0.0:0.6084:0.0:0.3916	.	.	.	.	X	111;133	.	ENSP00000367300:E111X	E	-	1	0	ZNF425	148433565	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.026000	0.13599	-0.334000	0.08463	-0.742000	0.03525	GAA	ZNF425	-	NULL		0.423	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	C	XM_088140		148802632	-1	no_errors	ENST00000378061	ensembl	human	known	70_37	nonsense	SNP	0.002	A
ZNF433	163059	genome.wustl.edu	37	19	12125837	12125837	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:12125837C>A	ENST00000344980.6	-	4	2015	c.1845G>T	c.(1843-1845)gaG>gaT	p.E615D	ZNF433_ENST00000419886.2_Missense_Mutation_p.E580D|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	615					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(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TATACGGTTTCTCTCCAGTGT	0.458																																																	0													87.0	92.0	91.0					19																	12125837		2201	4300	6501	SO:0001583	missense	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1845G>T	19.37:g.12125837C>A	ENSP00000339767:p.Glu615Asp		Q86VX3	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.E615D	ENST00000344980.6	37	c.1845	CCDS45983.1	19	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844475	0.71488	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.26810	1.71;1.71	1.41	0.174	0.15040	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22742	0.0549	L	0.33792	1.035	0.22880	N	0.998617	P	0.38455	0.632	B	0.43867	0.434	T	0.22243	-1.0222	9	0.72032	D	0.01	.	7.6561	0.28375	0.255:0.745:0.0:0.0	.	615	Q8N7K0	ZN433_HUMAN	D	580;615	ENSP00000393416:E580D;ENSP00000339767:E615D	ENSP00000339767:E615D	E	-	3	2	ZNF433	11986837	0.002000	0.14202	0.060000	0.19600	0.965000	0.64279	-0.109000	0.10840	0.093000	0.17368	0.305000	0.20034	GAG	ZNF433	-	pfscan_Znf_C2H2		0.458	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF433	HGNC	protein_coding	OTTHUMT00000403716.1	C	NM_152602		12125837	-1	no_errors	ENST00000344980	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF443	10224	genome.wustl.edu	37	19	12542059	12542059	+	Silent	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:12542059A>G	ENST00000301547.5	-	4	1124	c.927T>C	c.(925-927)taT>taC	p.Y309Y	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	309					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GTTTACATGTATAGGGTTTCT	0.428																																																	0													119.0	118.0	118.0					19																	12542059		2203	4298	6501	SO:0001819	synonymous_variant	10224			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.927T>C	19.37:g.12542059A>G				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.Y309	ENST00000301547.5	37	c.927	CCDS32918.1	19																																																																																			ZNF443	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	A	NM_005815		12542059	-1	no_errors	ENST00000301547	ensembl	human	known	70_37	silent	SNP	0.058	G
ZNF449	203523	genome.wustl.edu	37	X	134493904	134493904	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:134493904T>G	ENST00000339249.4	+	4	787	c.647T>G	c.(646-648)aTg>aGg	p.M216R		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	216					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCTAAAGAAATGAAACAATTA	0.323																																																	0													85.0	82.0	83.0					X																	134493904		2203	4299	6502	SO:0001583	missense	203523			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.647T>G	X.37:g.134493904T>G	ENSP00000339585:p.Met216Arg		Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.M216R	ENST00000339249.4	37	c.647	CCDS14649.1	X	.	.	.	.	.	.	.	.	.	.	T	11.08	1.533440	0.27387	.	.	ENSG00000173275	ENST00000339249	T	0.04970	3.52	4.67	3.42	0.39159	.	0.244297	0.28952	N	0.013610	T	0.03739	0.0106	N	0.19112	0.55	0.80722	D	1	B	0.19583	0.037	B	0.17722	0.019	T	0.41106	-0.9527	10	0.11794	T	0.64	.	8.0505	0.30575	0.1834:0.0:0.0:0.8166	.	216	Q6P9G9	ZN449_HUMAN	R	216	ENSP00000339585:M216R	ENSP00000339585:M216R	M	+	2	0	ZNF449	134321570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.472000	0.35376	1.868000	0.54150	0.425000	0.28330	ATG	ZNF449	-	NULL		0.323	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF449	HGNC	protein_coding	OTTHUMT00000058411.1	T	NM_152695		134493904	+1	no_errors	ENST00000339249	ensembl	human	known	70_37	missense	SNP	0.983	G
ZNF451	26036	genome.wustl.edu	37	6	56993563	56993563	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr6:56993563G>T	ENST00000370706.4	+	5	593	c.349G>T	c.(349-351)Gaa>Taa	p.E117*	RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E117*|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E117*|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	117					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)			TGGGTTACAAGAATTGGAATT	0.353																																																	0													104.0	99.0	101.0					6																	56993563		2203	4300	6503	SO:0001587	stop_gained	26036			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.349G>T	6.37:g.56993563G>T	ENSP00000359740:p.Glu117*		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E117*	ENST00000370706.4	37	c.349	CCDS43477.1	6	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843554	0.91197	.	.	ENSG00000112200	ENST00000510483;ENST00000370706;ENST00000357489;ENST00000491832	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.0894	17.0849	0.86609	0.0:0.0:1.0:0.0	.	.	.	.	X	89;117;117;117	.	ENSP00000350083:E117X	E	+	1	0	ZNF451	57101522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.803000	0.75180	2.107000	0.64212	0.655000	0.94253	GAA	ZNF451	-	NULL		0.353	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	HGNC	protein_coding	OTTHUMT00000041035.2	G	NM_015555		56993563	+1	no_errors	ENST00000370706	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ZNF469	84627	genome.wustl.edu	37	16	88498918	88498918	+	Silent	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:88498918T>G	ENST00000437464.1	+	2	4956	c.4956T>G	c.(4954-4956)gtT>gtG	p.V1652V	ZNF469_ENST00000565624.1_Silent_p.V1680V	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1652					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						AAGACCTGGTTTCTGGGGCTC	0.627																																																	0													26.0	29.0	28.0					16																	88498918		691	1590	2281	SO:0001819	synonymous_variant	84627			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.4956T>G	16.37:g.88498918T>G				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V1652	ENST00000437464.1	37	c.4956	CCDS45544.1	16																																																																																			ZNF469	-	NULL		0.627	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		T	NG_012236		88498918	+1	no_errors	ENST00000437464	ensembl	human	known	70_37	silent	SNP	0.000	G
ZNF479	90827	genome.wustl.edu	37	7	57188757	57188757	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:57188757T>G	ENST00000331162.4	-	5	635	c.365A>C	c.(364-366)aAa>aCa	p.K122T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	122					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)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAATTGTAATTTCTCATGTCC	0.388																																																	0													71.0	65.0	67.0					7																	57188757		1829	4082	5911	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.365A>C	7.37:g.57188757T>G	ENSP00000333776:p.Lys122Thr			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.K122T	ENST00000331162.4	37	c.365	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	t	5.471	0.271947	0.10349	.	.	ENSG00000185177	ENST00000331162	T	0.06768	3.26	1.6	0.285	0.15705	.	.	.	.	.	T	0.04543	0.0124	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.40251	-0.9573	9	0.59425	D	0.04	.	3.3246	0.07062	0.0:0.267:0.0:0.733	.	122	Q96JC4	ZN479_HUMAN	T	122	ENSP00000333776:K122T	ENSP00000333776:K122T	K	-	2	0	ZNF479	57192699	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	-0.606000	0.05654	-0.084000	0.12595	0.329000	0.21502	AAA	ZNF479	-	NULL		0.388	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	T	XM_291202		57188757	-1	no_errors	ENST00000331162	ensembl	human	known	70_37	missense	SNP	0.001	G
ZNF484	83744	genome.wustl.edu	37	9	95609789	95609789	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr9:95609789A>C	ENST00000375495.3	-	5	1428	c.1280T>G	c.(1279-1281)tTt>tGt	p.F427C	ZNF484_ENST00000395505.2_Missense_Mutation_p.F391C|ZNF484_ENST00000395506.3_Missense_Mutation_p.F429C|ZNF484_ENST00000332591.6_Missense_Mutation_p.F391C|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATGTGTGATAAAATGTGACTT	0.373																																																	0													74.0	76.0	75.0					9																	95609789		2203	4300	6503	SO:0001583	missense	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1280T>G	9.37:g.95609789A>C	ENSP00000364645:p.Phe427Cys		B1AL89|B4DRI2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F429C	ENST00000375495.3	37	c.1286	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	15.53	2.860068	0.51482	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16642	0.0400	L	0.33668	1.02	0.27013	N	0.964652	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.05500	-1.0881	9	0.87932	D	0	.	8.6465	0.34009	1.0:0.0:0.0:0.0	.	429;427	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	391;429;427;391	ENSP00000378881:F391C;ENSP00000378882:F429C;ENSP00000364645:F427C;ENSP00000364646:F391C	ENSP00000364646:F391C	F	-	2	0	ZNF484	94649610	0.864000	0.29904	1.000000	0.80357	0.993000	0.82548	5.855000	0.69510	1.352000	0.45808	0.446000	0.29264	TTT	ZNF484	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	A	XM_046861		95609789	-1	no_errors	ENST00000395506	ensembl	human	known	70_37	missense	SNP	0.809	C
ZNF502	91392	genome.wustl.edu	37	3	44762970	44762970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:44762970C>T	ENST00000296091.4	+	4	917	c.661C>T	c.(661-663)Cga>Tga	p.R221*	ZNF502_ENST00000449836.1_Nonsense_Mutation_p.R221*|ZNF502_ENST00000436624.2_Nonsense_Mutation_p.R221*	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R221*(1)		NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAAAACATTTCGATGTCGATC	0.398																																																	1	Substitution - Nonsense(1)	large_intestine(1)											160.0	166.0	164.0					3																	44762970		2203	4300	6503	SO:0001587	stop_gained	91392			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.661C>T	3.37:g.44762970C>T	ENSP00000296091:p.Arg221*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R221*	ENST00000296091.4	37	c.661	CCDS2719.1	3	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540358	0.65085	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624	.	.	.	4.7	-0.894	0.10563	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-2.004	6.2691	0.20945	0.6231:0.2127:0.0:0.1641	.	.	.	.	X	221	.	ENSP00000296091:R221X	R	+	1	2	ZNF502	44737974	0.000000	0.05858	0.042000	0.18584	0.995000	0.86356	-0.616000	0.05591	0.007000	0.14760	-0.182000	0.12963	CGA	ZNF502	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF502	HGNC	protein_coding	OTTHUMT00000256744.4	C	NM_033210		44762970	+1	no_errors	ENST00000296091	ensembl	human	known	70_37	nonsense	SNP	0.002	T
ZNF502	91392	genome.wustl.edu	37	3	44763337	44763338	+	Missense_Mutation	DNP	GA	GA	TC			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr3:44763337_44763338GA>TC	ENST00000296091.4	+	4	1284_1285	c.1028_1029GA>TC	c.(1027-1029)aGA>aTC	p.R343I	ZNF502_ENST00000449836.1_Missense_Mutation_p.R343I|ZNF502_ENST00000436624.2_Missense_Mutation_p.R343I	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	343					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)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CAGCATCAGAGAATTCATAGTG	0.406																																																	0																																										SO:0001583	missense	91392			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	Exception_encountered	3.37:g.44763337_44763338delinsTC	ENSP00000296091:p.Arg343Ile			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R343I|p.R343S	ENST00000296091.4	37	c.1028|c.1029	CCDS2719.1	3																																																																																			ZNF502	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.406	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF502	HGNC	protein_coding	OTTHUMT00000256744.4	G|A	NM_033210		44763337|44763338	+1	no_errors	ENST00000296091	ensembl	human	known	70_37	missense	SNP	1.000	T|C
ZNF507	22847	genome.wustl.edu	37	19	32873985	32873985	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:32873985A>T	ENST00000311921.4	+	6	3050	c.2858A>T	c.(2857-2859)aAt>aTt	p.N953I	ZNF507_ENST00000544431.1_Missense_Mutation_p.N957I|ZNF507_ENST00000355898.5_Missense_Mutation_p.N953I	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	953					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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CTAAACACAAATTAGGTGGAA	0.423																																																	0													65.0	61.0	62.0					19																	32873985		2203	4300	6503	SO:0001583	missense	22847			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2858A>T	19.37:g.32873985A>T	ENSP00000312277:p.Asn953Ile		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N953I	ENST00000311921.4	37	c.2858	CCDS32985.1	19	.	.	.	.	.	.	.	.	.	.	A	7.924	0.739312	0.15642	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.08984	3.35;3.35;3.03	5.92	1.43	0.22495	.	0.454411	0.25890	N	0.027640	T	0.06826	0.0174	L	0.44542	1.39	0.31303	N	0.688083	B	0.34103	0.437	B	0.32289	0.143	T	0.11966	-1.0566	10	0.87932	D	0	-20.314	5.4259	0.16425	0.5542:0.1398:0.306:0.0	.	953	Q8TCN5	ZN507_HUMAN	I	953;953;957	ENSP00000348162:N953I;ENSP00000312277:N953I;ENSP00000441549:N957I	ENSP00000312277:N953I	N	+	2	0	ZNF507	37565825	0.974000	0.33945	0.003000	0.11579	0.004000	0.04260	0.380000	0.20602	-0.076000	0.12775	-0.256000	0.11100	AAT	ZNF507	-	NULL		0.423	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	A	NM_014910		32873985	+1	no_errors	ENST00000311921	ensembl	human	known	70_37	missense	SNP	0.986	T
ZNF516	9658	genome.wustl.edu	37	18	74074245	74074245	+	3'UTR	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr18:74074245T>C	ENST00000443185.2	-	0	4017				ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516						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(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TATAGCATCTTCATTTATTTC	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.*208A>G	18.37:g.74074245T>C				RNA	SNP	-	NULL	ENST00000443185.2	37	NULL		18																																																																																			ZNF516	-	-		0.433	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding		T	NM_014643		74074245	-1	no_errors	ENST00000524431	ensembl	human	known	70_37	rna	SNP	0.112	C
ZNF518A	9849	genome.wustl.edu	37	10	97917657	97917657	+	RNA	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr10:97917657T>C	ENST00000534948.1	+	0	2435							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GGAAAGCAAGTTCAGAAAAAG	0.323																																																	0													110.0	114.0	113.0					10																	97917657		1841	4085	5926			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917657T>C			A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-		0.323	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		T	NM_014803		97917657	+1	no_errors	ENST00000316045	ensembl	human	known	70_37	rna	SNP	0.023	C
ZNF536	9745	genome.wustl.edu	37	19	30935924	30935924	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:30935924G>T	ENST00000355537.3	+	2	1602	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	485					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGGGGACAAGCACTCCCTCC	0.652																																																	0													35.0	38.0	37.0					19																	30935924		2203	4299	6502	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1455G>T	19.37:g.30935924G>T	ENSP00000347730:p.Lys485Asn		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K485N	ENST00000355537.3	37	c.1455	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	8.748	0.920618	0.17982	.	.	ENSG00000198597	ENST00000355537	T	0.16073	2.37	5.53	0.983	0.19767	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	L	0.58101	1.795	0.45580	D	0.998528	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.01591	-1.1317	10	0.51188	T	0.08	-34.2216	8.7182	0.34425	0.5177:0.0:0.4823:0.0	.	485;485	A7E228;O15090	.;ZN536_HUMAN	N	485	ENSP00000347730:K485N	ENSP00000347730:K485N	K	+	3	2	ZNF536	35627764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.811000	0.27198	0.288000	0.22398	0.655000	0.94253	AAG	ZNF536	-	NULL		0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	G	NM_014717		30935924	+1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	0.997	T
ZNF541	84215	genome.wustl.edu	37	19	48043494	48043494	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:48043494C>T	ENST00000391901.3	-	5	2560	c.2561G>A	c.(2560-2562)aGc>aAc	p.S854N	ZNF541_ENST00000314121.4_Missense_Mutation_p.S854N|ZNF541_ENST00000487275.1_5'UTR|ZNF541_ENST00000448976.1_Missense_Mutation_p.S854N			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	854					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						CATGTGGCTGCTCAGCCCTTT	0.557																																																	0													81.0	80.0	80.0					19																	48043494		692	1591	2283	SO:0001583	missense	84215			AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.2561G>A	19.37:g.48043494C>T	ENSP00000375770:p.Ser854Asn		Q8NDK8	Missense_Mutation	SNP	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.S854N	ENST00000391901.3	37	c.2561		19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.05|13.05	2.120904|2.120904	0.37436|0.37436	.|.	.|.	ENSG00000118156|ENSG00000118156	ENST00000263351|ENST00000391901;ENST00000314121;ENST00000448976	.|T;T;T	.|0.34072	.|1.38;1.38;1.38	5.4|5.4	3.24|3.24	0.37175|0.37175	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.|0.456273	.|0.22988	.|N	.|0.053233	T|T	0.20088|0.20088	0.0483|0.0483	N|N	0.19112|0.19112	0.55|0.55	0.25078|0.25078	N|N	0.99095|0.99095	.|B;B;B	.|0.17268	.|0.005;0.021;0.021	.|B;B;B	.|0.16722	.|0.003;0.016;0.009	T|T	0.22208|0.22208	-1.0223|-1.0223	5|10	.|0.13853	.|T	.|0.58	-19.3781|-19.3781	8.4042|8.4042	0.32605|0.32605	0.0:0.8083:0.0:0.1917|0.0:0.8083:0.0:0.1917	.|.	.|854;854;854	.|Q9H0D2;Q9H0D2-2;Q9H0D2-3	.|ZN541_HUMAN;.;.	T|N	445|854	.|ENSP00000375770:S854N;ENSP00000313258:S854N;ENSP00000410847:S854N	.|ENSP00000313258:S854N	A|S	-|-	1|2	0|0	ZNF541|ZNF541	52735306|52735306	0.986000|0.986000	0.35501|0.35501	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	0.090000|0.090000	0.15025|0.15025	0.791000|0.791000	0.33826|0.33826	0.561000|0.561000	0.74099|0.74099	GCA|AGC	ZNF541	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1	C	NM_032255		48043494	-1	no_errors	ENST00000314121	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF528	84436	genome.wustl.edu	37	19	52919122	52919122	+	Nonsense_Mutation	SNP	T	T	G	rs578002219		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:52919122T>G	ENST00000360465.3	+	7	1443	c.1017T>G	c.(1015-1017)taT>taG	p.Y339*	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GCCATTCATATCTAGCAGAAC	0.393																																																	0													61.0	61.0	61.0					19																	52919122		2203	4300	6503	SO:0001587	stop_gained	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1017T>G	19.37:g.52919122T>G	ENSP00000353652:p.Tyr339*		B3KPN4|Q86T88|Q96JK0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y339*	ENST00000360465.3	37	c.1017	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	T	28.8	4.952199	0.92660	.	.	ENSG00000167555	ENST00000360465	.	.	.	1.85	-2.97	0.05530	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0424	0.09758	0.1811:0.5416:0.0:0.2773	.	.	.	.	X	339	.	ENSP00000353652:Y339X	Y	+	3	2	ZNF528	57610934	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.187000	0.03067	-0.406000	0.07588	-0.415000	0.06103	TAT	ZNF528	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	T	NM_032423		52919122	+1	no_errors	ENST00000360465	ensembl	human	known	70_37	nonsense	SNP	0.001	G
ZNF525	170958	genome.wustl.edu	37	19	53884683	53884683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53884683C>A	ENST00000355326.3	+	1	5	c.5C>A	c.(4-6)tCa>tAa	p.S2*	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000467003.1_Nonsense_Mutation_p.S248*|ZNF525_ENST00000474037.1_Nonsense_Mutation_p.S284*			Q8N782	ZN525_HUMAN	zinc finger protein 525	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						AGTCAGATGTCATCCCTTACA	0.423																																																	0																																										SO:0001587	stop_gained	170958			AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000355326.3:c.5C>A	19.37:g.53884683C>A	ENSP00000408929:p.Ser2*		Q8TF23	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S2*	ENST00000355326.3	37	c.5		19	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604047	0.46423	.	.	ENSG00000203326	ENST00000474037;ENST00000467003;ENST00000355326	.	.	.	1.86	0.758	0.18432	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4988	0.16817	0.0:0.6717:0.0:0.3283	.	.	.	.	X	284;248;2	.	ENSP00000408929:S2X	S	+	2	0	ZNF525	58576495	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.155000	0.10115	0.117000	0.18138	0.298000	0.19748	TCA	ZNF525	-	pfscan_Znf_C2H2		0.423	ZNF525-201	KNOWN	basic	protein_coding	ZNF525	HGNC	protein_coding		C	NR_003699		53884683	+1	no_errors	ENST00000355326	ensembl	human	known	70_37	nonsense	SNP	0.000	A
AC006116.24	0	genome.wustl.edu	37	19	56888473	56888473	+	RNA	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56888473G>T	ENST00000591836.1	-	0	180				ZNF542_ENST00000490123.1_RNA																							CAGCATCAAAGAATCCACACG	0.398																																																	0																																												147947																															19.37:g.56888473G>T				RNA	SNP	-	NULL	ENST00000591836.1	37	NULL		19																																																																																			ZNF542	-	-		0.398	AC006116.24-001	KNOWN	basic	sense_intronic	ZNF542	HGNC	sense_intronic	OTTHUMT00000459747.1	G			56888473	+1	no_errors	ENST00000467807	ensembl	human	known	70_37	rna	SNP	1.000	T
ZNF560	147741	genome.wustl.edu	37	19	9577552	9577552	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9577552T>G	ENST00000301480.4	-	10	2284	c.2071A>C	c.(2071-2073)Aat>Cat	p.N691H		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	691					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)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CGAAAGGAATTTCCACATGCG	0.378																																																	0													131.0	133.0	132.0					19																	9577552		2203	4300	6503	SO:0001583	missense	147741			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.2071A>C	19.37:g.9577552T>G	ENSP00000301480:p.Asn691His		Q495S9|Q495T1	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.N691H	ENST00000301480.4	37	c.2071	CCDS12214.1	19	.	.	.	.	.	.	.	.	.	.	T	9.256	1.041903	0.19748	.	.	ENSG00000198028	ENST00000301480	T	0.15139	2.45	1.69	1.69	0.24217	.	.	.	.	.	T	0.10208	0.0250	N	0.17082	0.46	0.20764	N	0.999851	B	0.26876	0.162	B	0.24541	0.054	T	0.26360	-1.0105	9	0.87932	D	0	.	7.3583	0.26731	0.0:0.0:0.0:1.0	.	691	Q96MR9	ZN560_HUMAN	H	691	ENSP00000301480:N691H	ENSP00000301480:N691H	N	-	1	0	ZNF560	9438552	0.983000	0.35010	0.003000	0.11579	0.015000	0.08874	3.334000	0.52097	1.019000	0.39547	0.379000	0.24179	AAT	ZNF560	-	NULL		0.378	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF560	HGNC	protein_coding	OTTHUMT00000449901.1	T	NM_152476		9577552	-1	no_errors	ENST00000301480	ensembl	human	known	70_37	missense	SNP	0.910	G
ZNF561	93134	genome.wustl.edu	37	19	9721199	9721199	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9721199G>T	ENST00000302851.3	-	6	1501	c.1138C>A	c.(1138-1140)Ctt>Att	p.L380I	ZNF561_ENST00000354661.4_Missense_Mutation_p.L244I|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.L311I|ZNF561_ENST00000495503.1_5'Flank	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	380					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(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TGCTGAATAAGACTTGTGGAT	0.418																																																	0													117.0	110.0	113.0					19																	9721199		2203	4300	6503	SO:0001583	missense	93134			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1138C>A	19.37:g.9721199G>T	ENSP00000303915:p.Leu380Ile		B4E2Q8|Q6PJS0	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.L380I	ENST00000302851.3	37	c.1138	CCDS12216.2	19	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923088	0.33908	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.53857	0.6;0.6;0.6	1.1	-0.0107	0.13995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62134	0.2403	M	0.83118	2.625	0.09310	N	1	P	0.40970	0.734	P	0.50754	0.649	T	0.55903	-0.8067	9	0.72032	D	0.01	.	5.358	0.16071	0.2227:0.0:0.7773:0.0	.	380	Q8N587	ZN561_HUMAN	I	311;380;244	ENSP00000393074:L311I;ENSP00000303915:L380I;ENSP00000346687:L244I	ENSP00000303915:L380I	L	-	1	0	ZNF561	9582199	.	.	0.002000	0.10522	0.131000	0.20780	.	.	0.040000	0.15660	0.298000	0.19748	CTT	ZNF561	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF561	HGNC	protein_coding	OTTHUMT00000347272.2	G	NM_152289		9721199	-1	no_errors	ENST00000302851	ensembl	human	known	70_37	missense	SNP	0.005	T
ZNF585B	92285	genome.wustl.edu	37	19	37676174	37676174	+	Silent	SNP	G	G	A	rs543969932		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:37676174G>A	ENST00000532828.2	-	5	2516	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	ZNF585B_ENST00000531805.1_Silent_p.F700F|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Silent_p.F343F|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	755					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTCTGAACGAAGCCTTTCC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		18989	0.0		0.0	False		,,,				2504	0.001				Melanoma(93;882 1454 18863 28917 48427)												0													169.0	145.0	153.0					19																	37676174		2203	4300	6503	SO:0001819	synonymous_variant	92285			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2265C>T	19.37:g.37676174G>A			Q8IZD3|Q96JW6	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.F755	ENST00000532828.2	37	c.2265	CCDS12500.1	19																																																																																			ZNF585B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	G	NM_152279		37676174	-1	no_errors	ENST00000532828	ensembl	human	known	70_37	silent	SNP	0.452	A
ZNF570	148268	genome.wustl.edu	37	19	37974926	37974926	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:37974926T>G	ENST00000330173.1	+	5	931	c.402T>G	c.(400-402)taT>taG	p.Y134*	ZNF570_ENST00000388801.3_De_novo_Start_OutOfFrame|ZNF570_ENST00000586475.1_Nonsense_Mutation_p.Y190*	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGGGCTATTTTGAAAGGC	0.358																																																	0													131.0	131.0	131.0					19																	37974926		2203	4300	6503	SO:0001587	stop_gained	148268			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.402T>G	19.37:g.37974926T>G	ENSP00000331540:p.Tyr134*		A1L472|B4DMP1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y134*	ENST00000330173.1	37	c.402	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	T	25.5	4.649616	0.87958	.	.	ENSG00000171827	ENST00000330173	.	.	.	4.85	1.49	0.22878	.	0.718258	0.11431	N	0.564760	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4255	0.16423	0.0:0.1646:0.1477:0.6878	.	.	.	.	X	134	.	ENSP00000331540:Y134X	Y	+	3	2	ZNF570	42666766	0.052000	0.20516	0.003000	0.11579	0.140000	0.21249	0.145000	0.16157	0.068000	0.16574	-0.460000	0.05396	TAT	ZNF570	-	NULL		0.358	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	T	NM_144694		37974926	+1	no_errors	ENST00000330173	ensembl	human	known	70_37	nonsense	SNP	0.710	G
ZNF583	147949	genome.wustl.edu	37	19	56934722	56934722	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56934722G>T	ENST00000333201.9	+	5	905	c.695G>T	c.(694-696)aGa>aTa	p.R232I	ZNF583_ENST00000291598.7_Missense_Mutation_p.R232I|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R232I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTTCATCAGAGAATTCATACT	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											45.0	50.0	48.0					19																	56934722		2203	4297	6500	SO:0001583	missense	147949			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.695G>T	19.37:g.56934722G>T	ENSP00000388502:p.Arg232Ile		O14850|Q2NKK3	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.R232I	ENST00000333201.9	37	c.695	CCDS12943.1	19	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692434	0.68271	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.02446	4.29;4.29	4.43	-1.39	0.08997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000272	T	0.05914	0.0154	L	0.45422	1.42	0.45704	D	0.998612	D	0.76494	0.999	D	0.67548	0.952	T	0.42258	-0.9462	9	.	.	.	.	5.611	0.17406	0.3784:0.1299:0.4917:0.0	.	232	Q96ND8	ZN583_HUMAN	I	232	ENSP00000291598:R232I;ENSP00000388502:R232I	.	R	+	2	0	ZNF583	61626534	0.000000	0.05858	0.052000	0.19188	0.995000	0.86356	-2.160000	0.01279	-0.175000	0.10725	0.462000	0.41574	AGA	ZNF583	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1	G	NM_152478		56934722	+1	no_errors	ENST00000291598	ensembl	human	known	70_37	missense	SNP	0.936	T
ZNF583	147949	genome.wustl.edu	37	19	56935058	56935058	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:56935058G>T	ENST00000333201.9	+	5	1241	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	ZNF583_ENST00000291598.7_Missense_Mutation_p.R344I|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R344I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAGCATCAGAGAATTCATACA	0.413																																																	2	Substitution - Missense(2)	large_intestine(2)											116.0	123.0	121.0					19																	56935058		2203	4300	6503	SO:0001583	missense	147949			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1031G>T	19.37:g.56935058G>T	ENSP00000388502:p.Arg344Ile		O14850|Q2NKK3	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.R344I	ENST00000333201.9	37	c.1031	CCDS12943.1	19	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527511	0.64860	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.24908	1.83;1.83	4.33	0.753	0.18404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000196	T	0.50309	0.1608	M	0.81179	2.53	0.50813	D	0.999898	D	0.89917	1.0	D	0.80764	0.994	T	0.56080	-0.8038	9	.	.	.	.	15.2331	0.73407	0.0:0.5566:0.4434:0.0	.	344	Q96ND8	ZN583_HUMAN	I	344	ENSP00000291598:R344I;ENSP00000388502:R344I	.	R	+	2	0	ZNF583	61626870	0.000000	0.05858	0.640000	0.29408	0.996000	0.88848	-0.098000	0.11024	0.166000	0.19597	0.462000	0.41574	AGA	ZNF583	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1	G	NM_152478		56935058	+1	no_errors	ENST00000291598	ensembl	human	known	70_37	missense	SNP	0.968	T
ZNF549	256051	genome.wustl.edu	37	19	58048626	58048626	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:58048626C>T	ENST00000376233.3	+	4	435	c.254C>T	c.(253-255)gCg>gTg	p.A85V	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.A72V	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCTTTCTGCGCAAGGAGTG	0.453																																																	0													114.0	102.0	106.0					19																	58048626		2203	4300	6503	SO:0001583	missense	256051			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.254C>T	19.37:g.58048626C>T	ENSP00000365407:p.Ala85Val		B3KV91|O43336|Q8NAR4	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.A85V	ENST00000376233.3	37	c.254	CCDS56106.1	19	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.743933	0.00675	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.04970	3.54;3.52	2.28	-2.44	0.06502	Krueppel-associated box (1);	.	.	.	.	T	0.01558	0.0050	N	0.00422	-1.515	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47182	-0.9137	9	0.28530	T	0.3	.	6.475	0.22031	0.0:0.4175:0.0:0.5825	.	85;72	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	V	72;85	ENSP00000240719:A72V;ENSP00000365407:A85V	ENSP00000240719:A72V	A	+	2	0	ZNF549	62740438	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.030000	0.03581	-0.664000	0.05324	-0.812000	0.03155	GCG	ZNF549	-	pfscan_Krueppel-associated_box		0.453	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF549	HGNC	protein_coding	OTTHUMT00000466780.1	C	NM_153263		58048626	+1	no_errors	ENST00000376233	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF594	84622	genome.wustl.edu	37	17	5085175	5085175	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:5085175C>A	ENST00000399604.4	-	1	2517	c.2377G>T	c.(2377-2379)Gaa>Taa	p.E793*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.E793*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	793					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)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCCCACATTCTTTACATTCA	0.393																																																	0													182.0	180.0	181.0					17																	5085175		2004	4205	6209	SO:0001587	stop_gained	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.2377G>T	17.37:g.5085175C>A	ENSP00000382513:p.Glu793*		Q6RFS0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E793*	ENST00000399604.4	37	c.2377	CCDS42241.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.047042|6.047042	0.97231|0.97231	.|.	.|.	ENSG00000180626|ENSG00000180626	ENST00000399604|ENST00000381752	.|.	.|.	.|.	0.98|0.98	0.98|0.98	0.19750|0.19750	.|.	.|.	.|.	.|.	.|.	.|T	.|0.14917	.|0.0360	.|.	.|.	.|.	0.27127|0.27127	N|N	0.961986|0.961986	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.28618	.|-1.0038	.|5	0.44086|0.07325	T|T	0.13|0.83	.|.	7.5278|7.5278	0.27666|0.27666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	793|4	.|.	ENSP00000382513:E793X|ENSP00000371171:K4N	E|K	-|-	1|3	0|2	ZNF594|ZNF594	5025899|5025899	0.000000|0.000000	0.05858|0.05858	0.038000|0.038000	0.18304|0.18304	0.547000|0.547000	0.35210|0.35210	-1.390000|-1.390000	0.02528|0.02528	0.489000|0.489000	0.27749|0.27749	0.289000|0.289000	0.19496|0.19496	GAA|AAG	ZNF594	-	NULL		0.393	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	C	XM_290737		5085175	-1	no_errors	ENST00000399604	ensembl	human	known	70_37	nonsense	SNP	0.355	A
ZNF595	152687	genome.wustl.edu	37	4	85884	85884	+	3'UTR	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:85884T>C	ENST00000339368.6	+	0	693							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CAAACAAACATAAGATAAGAC	0.333																																																	0													32.0	34.0	33.0					4																	85884		2015	4194	6209	SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*690T>C	4.37:g.85884T>C				RNA	SNP	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-		0.333	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	T	NM_182524		85884	+1	no_errors	ENST00000339368	ensembl	human	known	70_37	rna	SNP	0.348	C
ZNF608	57507	genome.wustl.edu	37	5	123984032	123984032	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr5:123984032G>A	ENST00000306315.5	-	4	2480	c.2045C>T	c.(2044-2046)gCg>gTg	p.A682V	ZNF608_ENST00000504926.1_Missense_Mutation_p.A255V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	682							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ACTGTCTAACGCAGCCGTCAT	0.438																																																	0													112.0	115.0	114.0					5																	123984032		2203	4300	6503	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2045C>T	5.37:g.123984032G>A	ENSP00000307746:p.Ala682Val		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.A682V	ENST00000306315.5	37	c.2045	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	G	0.501	-0.870941	0.02570	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.41400	1.0;1.0	5.78	5.78	0.91487	.	0.400498	0.30293	N	0.009941	T	0.30665	0.0772	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08848	-1.0702	10	0.27082	T	0.32	-2.8953	20.0115	0.97452	0.0:0.0:1.0:0.0	.	682	Q9ULD9	ZN608_HUMAN	V	255;682;682;682	ENSP00000427657:A255V;ENSP00000307746:A682V	ENSP00000307746:A682V	A	-	2	0	ZNF608	124011931	0.984000	0.35163	0.013000	0.15412	0.261000	0.26267	3.856000	0.55964	2.727000	0.93392	0.551000	0.68910	GCG	ZNF608	-	NULL		0.438	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	G	XM_114432		123984032	-1	no_errors	ENST00000306315	ensembl	human	known	70_37	missense	SNP	0.012	A
ZNF610	162963	genome.wustl.edu	37	19	52869563	52869563	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:52869563C>A	ENST00000403906.3	+	6	1388	c.932C>A	c.(931-933)aCt>aAt	p.T311N	ZNF610_ENST00000327920.8_Missense_Mutation_p.T311N|ZNF610_ENST00000321287.8_Missense_Mutation_p.T311N|ZNF610_ENST00000601151.1_Missense_Mutation_p.T268N	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTAATCCATACTGGAGAGAAA	0.408																																																	0													52.0	50.0	50.0					19																	52869563		2203	4300	6503	SO:0001583	missense	162963			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.932C>A	19.37:g.52869563C>A	ENSP00000383922:p.Thr311Asn		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T311N	ENST00000403906.3	37	c.932	CCDS12851.1	19	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951668	0.34471	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.26067	1.76;1.76	1.41	1.41	0.22369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31734	0.0806	L	0.27975	0.815	0.24308	N	0.995099	P;D	0.53312	0.949;0.959	P;P	0.61397	0.756;0.888	T	0.13764	-1.0497	9	0.66056	D	0.02	.	9.7204	0.40300	0.0:1.0:0.0:0.0	.	268;311	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	N	311;268;311	ENSP00000383922:T311N;ENSP00000327597:T311N	ENSP00000324441:T268N	T	+	2	0	ZNF610	57561375	0.229000	0.23729	0.763000	0.31416	0.069000	0.16628	0.867000	0.27968	0.737000	0.32582	0.313000	0.20887	ACT	ZNF610	-	pfscan_Znf_C2H2		0.408	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	HGNC	protein_coding	OTTHUMT00000462880.1	C	NM_173530		52869563	+1	no_errors	ENST00000321287	ensembl	human	known	70_37	missense	SNP	0.998	A
ZNF610	162963	genome.wustl.edu	37	19	52869638	52869638	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:52869638G>T	ENST00000403906.3	+	6	1463	c.1007G>T	c.(1006-1008)aGa>aTa	p.R336I	ZNF610_ENST00000327920.8_Missense_Mutation_p.R336I|ZNF610_ENST00000321287.8_Missense_Mutation_p.R336I|ZNF610_ENST00000601151.1_Missense_Mutation_p.R293I	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AATCATCAGAGAAGTCACACG	0.393																																																	0													71.0	71.0	71.0					19																	52869638		2203	4300	6503	SO:0001583	missense	162963			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1007G>T	19.37:g.52869638G>T	ENSP00000383922:p.Arg336Ile		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R336I	ENST00000403906.3	37	c.1007	CCDS12851.1	19	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695896	0.30052	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.24908	1.83;1.83	1.58	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	L	0.48986	1.54	0.30167	N	0.80161	B;B	0.27013	0.166;0.1	B;B	0.24701	0.053;0.055	T	0.22068	-1.0227	9	0.72032	D	0.01	.	4.8353	0.13462	0.0:0.1979:0.403:0.3991	.	293;336	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	I	336;293;336	ENSP00000383922:R336I;ENSP00000327597:R336I	ENSP00000324441:R293I	R	+	2	0	ZNF610	57561450	0.000000	0.05858	0.237000	0.24090	0.409000	0.31022	-0.459000	0.06728	-0.829000	0.04268	0.313000	0.20887	AGA	ZNF610	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	HGNC	protein_coding	OTTHUMT00000462880.1	G	NM_173530		52869638	+1	no_errors	ENST00000321287	ensembl	human	known	70_37	missense	SNP	0.855	T
ZNF630	57232	genome.wustl.edu	37	X	47918395	47918395	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:47918395C>A	ENST00000409324.3	-	5	1662	c.1436G>T	c.(1435-1437)aGa>aTa	p.R479I	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Missense_Mutation_p.R355I|ZNF630_ENST00000442455.3_Missense_Mutation_p.R465I	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	479					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						AGTATGAAGTCTTTGATGGCC	0.418																																																	0													67.0	66.0	66.0					X																	47918395		2195	4287	6482	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.1436G>T	X.37:g.47918395C>A	ENSP00000386393:p.Arg479Ile		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.R479I	ENST00000409324.3	37	c.1436	CCDS35237.2	X	.	.	.	.	.	.	.	.	.	.	.	13.46	2.244721	0.39697	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.24908	1.83;1.83;1.83	2.41	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38401	0.1039	L	0.52266	1.64	0.32813	D	0.501701	D	0.89917	1.0	D	0.72625	0.978	T	0.46582	-0.9181	9	0.56958	D	0.05	.	6.5336	0.22339	0.0:0.8331:0.0:0.1669	.	479	Q2M218	ZN630_HUMAN	I	465;355;479	ENSP00000393163:R465I;ENSP00000354683:R355I;ENSP00000386393:R479I	ENSP00000354683:R355I	R	-	2	0	ZNF630	47803339	0.000000	0.05858	0.040000	0.18447	0.744000	0.42396	-0.208000	0.09371	0.258000	0.21686	0.544000	0.68410	AGA	ZNF630	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	C	NM_001037735		47918395	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	missense	SNP	0.899	A
ZNF630	57232	genome.wustl.edu	37	X	47918815	47918815	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:47918815C>A	ENST00000409324.3	-	5	1242	c.1016G>T	c.(1015-1017)aGa>aTa	p.R339I	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Missense_Mutation_p.R215I|ZNF630_ENST00000442455.3_Missense_Mutation_p.R325I	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	339					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						AGTATGGACTCTCTGATGAAC	0.428																																																	0													62.0	57.0	58.0					X																	47918815		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.1016G>T	X.37:g.47918815C>A	ENSP00000386393:p.Arg339Ile		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.R339I	ENST00000409324.3	37	c.1016	CCDS35237.2	X	.	.	.	.	.	.	.	.	.	.	.	15.03	2.711096	0.48517	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.24908	1.83;1.83;1.83	2.31	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47488	0.1448	M	0.78344	2.41	0.38809	D	0.955373	D	0.89917	1.0	D	0.78314	0.991	T	0.52170	-0.8611	9	0.54805	T	0.06	.	9.8164	0.40856	0.0:1.0:0.0:0.0	.	339	Q2M218	ZN630_HUMAN	I	325;215;339	ENSP00000393163:R325I;ENSP00000354683:R215I;ENSP00000386393:R339I	ENSP00000354683:R215I	R	-	2	0	ZNF630	47803759	0.000000	0.05858	0.893000	0.35052	0.950000	0.60333	-0.205000	0.09411	1.179000	0.42884	0.544000	0.68410	AGA	ZNF630	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	C	NM_001037735		47918815	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF644	84146	genome.wustl.edu	37	1	91406821	91406821	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:91406821C>A	ENST00000370440.1	-	3	307	c.90G>T	c.(88-90)aaG>aaT	p.K30N	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.K30N			Q9H582	ZN644_HUMAN	zinc finger protein 644	30					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CGGTGTTTATCTTCAAATCAT	0.313																																																	0													120.0	129.0	126.0					1																	91406821		2203	4298	6501	SO:0001583	missense	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.90G>T	1.37:g.91406821C>A	ENSP00000359469:p.Lys30Asn		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K30N	ENST00000370440.1	37	c.90	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273289	0.40194	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00612	6.22;6.22	5.9	5.9	0.94986	.	0.075814	0.56097	D	0.000028	T	0.00412	0.0013	L	0.27053	0.805	0.41759	D	0.989707	P	0.38922	0.651	B	0.32677	0.15	T	0.80134	-0.1509	10	0.72032	D	0.01	-11.173	20.2787	0.98501	0.0:1.0:0.0:0.0	.	30	Q9H582	ZN644_HUMAN	N	30	ENSP00000359469:K30N;ENSP00000337008:K30N	ENSP00000337008:K30N	K	-	3	2	ZNF644	91179409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.161000	0.42358	2.798000	0.96311	0.650000	0.86243	AAG	ZNF644	-	NULL		0.313	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	C	NM_032186		91406821	-1	no_errors	ENST00000337393	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF645	158506	genome.wustl.edu	37	X	22291431	22291431	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chrX:22291431G>A	ENST00000323684.1	+	1	367	c.323G>A	c.(322-324)cGa>cAa	p.R108Q		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	108	HYB domain.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						GCGCATAAACGAGGTTCTGTC	0.423																																																	0													83.0	69.0	74.0					X																	22291431		2203	4300	6503	SO:0001583	missense	158506			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.323G>A	X.37:g.22291431G>A	ENSP00000323348:p.Arg108Gln		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	pfscan_Znf_RING,pfscan_Znf_C2H2	p.R108Q	ENST00000323684.1	37	c.323	CCDS14205.1	X	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464181	0.43736	.	.	ENSG00000175809	ENST00000323684	T	0.32515	1.45	3.48	-1.63	0.08345	.	0.157513	0.43579	N	0.000550	T	0.14874	0.0359	L	0.46157	1.445	0.09310	N	1	P	0.46952	0.887	B	0.30855	0.121	T	0.29852	-0.9998	10	0.30854	T	0.27	.	4.7725	0.13162	0.4335:0.1566:0.4099:0.0	.	108	Q8N7E2	ZN645_HUMAN	Q	108	ENSP00000323348:R108Q	ENSP00000323348:R108Q	R	+	2	0	ZNF645	22201352	0.266000	0.24112	0.000000	0.03702	0.008000	0.06430	1.747000	0.38298	-0.560000	0.06102	-0.297000	0.09499	CGA	ZNF645	-	NULL		0.423	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF645	HGNC	protein_coding	OTTHUMT00000056037.1	G	NM_152577		22291431	+1	no_errors	ENST00000323684	ensembl	human	known	70_37	missense	SNP	0.003	A
ZNF648	127665	genome.wustl.edu	37	1	182025669	182025669	+	Missense_Mutation	SNP	G	G	A	rs562606540		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:182025669G>A	ENST00000339948.3	-	2	1684	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	493					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(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TGTTGGTGCCGCTTCAGGGTC	0.647																																					NSCLC(71;908 1374 5429 20458 35642)												0													55.0	49.0	51.0					1																	182025669		2203	4300	6503	SO:0001583	missense	127665			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1477C>T	1.37:g.182025669G>A	ENSP00000344129:p.Arg493Trp		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R493W	ENST00000339948.3	37	c.1477	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811938	0.50527	.	.	ENSG00000179930	ENST00000339948	T	0.26660	1.72	2.77	0.762	0.18454	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40791	0.1131	M	0.88704	2.975	0.33095	D	0.538504	D	0.71674	0.998	P	0.52109	0.69	T	0.54754	-0.8246	9	0.66056	D	0.02	.	5.3265	0.15908	0.0:0.202:0.3858:0.4122	.	493	Q5T619	ZN648_HUMAN	W	493	ENSP00000344129:R493W	ENSP00000344129:R493W	R	-	1	2	ZNF648	180292292	0.000000	0.05858	0.997000	0.53966	0.988000	0.76386	-0.574000	0.05868	0.192000	0.20272	-0.181000	0.13052	CGG	ZNF648	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	G	XM_060597		182025669	-1	no_errors	ENST00000339948	ensembl	human	known	70_37	missense	SNP	0.968	A
ZNF675	171392	genome.wustl.edu	37	19	23837076	23837076	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:23837076C>A	ENST00000359788.4	-	4	827	c.659G>T	c.(658-660)aGa>aTa	p.R220I	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	220					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R220I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTATAAATTCTTTTATGTTT	0.308																																																	1	Substitution - Missense(1)	large_intestine(1)											37.0	39.0	39.0					19																	23837076		2198	4294	6492	SO:0001583	missense	171392				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.659G>T	19.37:g.23837076C>A	ENSP00000352836:p.Arg220Ile		Q8N211	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.R220I	ENST00000359788.4	37	c.659	CCDS32981.1	19	.	.	.	.	.	.	.	.	.	.	.	13.60	2.286583	0.40494	.	.	ENSG00000197372	ENST00000359788	T	0.18502	2.21	0.916	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15392	0.0371	L	0.54965	1.715	0.53688	D	0.999972	B	0.14805	0.011	B	0.14023	0.01	T	0.05533	-1.0879	9	0.37606	T	0.19	.	8.5828	0.33640	0.0:1.0:0.0:0.0	.	220	Q8TD23	ZN675_HUMAN	I	220	ENSP00000352836:R220I	ENSP00000352836:R220I	R	-	2	0	ZNF675	23628916	0.000000	0.05858	0.247000	0.24249	0.243000	0.25628	0.111000	0.15458	0.300000	0.22699	0.305000	0.20034	AGA	ZNF675	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.308	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	C	NM_138330		23837076	-1	no_errors	ENST00000359788	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF649	65251	genome.wustl.edu	37	19	52394040	52394040	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:52394040C>A	ENST00000354957.3	-	5	1633	c.1349G>T	c.(1348-1350)aGa>aTa	p.R450I	ZNF577_ENST00000420592.1_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000412216.1_5'Flank|ZNF649_ENST00000600738.1_Missense_Mutation_p.R422I|ZNF577_ENST00000301399.5_5'Flank|ZNF577_ENST00000485702.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGAGTGTATTCTCTTATGTTT	0.453																																																	0													195.0	188.0	190.0					19																	52394040		2203	4300	6503	SO:0001583	missense	65251			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1349G>T	19.37:g.52394040C>A	ENSP00000347043:p.Arg450Ile		A8MYJ5|B2RDC4|Q9H9N2	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.R450I	ENST00000354957.3	37	c.1349	CCDS12843.1	19	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568061	0.28003	.	.	ENSG00000198093	ENST00000354957	T	0.10005	2.92	2.63	0.413	0.16401	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	L	0.38175	1.15	0.09310	N	0.999991	B	0.33964	0.434	B	0.25506	0.061	T	0.26430	-1.0103	9	0.54805	T	0.06	.	7.0216	0.24916	0.0:0.7524:0.0:0.2476	.	450	Q9BS31	ZN649_HUMAN	I	450	ENSP00000347043:R450I	ENSP00000347043:R450I	R	-	2	0	ZNF649	57085852	0.000000	0.05858	0.001000	0.08648	0.140000	0.21249	-1.000000	0.03693	-0.049000	0.13379	-0.490000	0.04691	AGA	ZNF649	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF649	HGNC	protein_coding	OTTHUMT00000461097.1	C	NM_023074		52394040	-1	no_errors	ENST00000354957	ensembl	human	known	70_37	missense	SNP	0.245	A
ZNF678	339500	genome.wustl.edu	37	1	227842267	227842267	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:227842267T>G	ENST00000343776.5	+	4	661	c.316T>G	c.(316-318)Ttt>Gtt	p.F106V	ZNF678_ENST00000397097.3_Missense_Mutation_p.F161V|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	106					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(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TGGCAGAAATTTTAGCTGGAG	0.348																																																	0													68.0	73.0	71.0					1																	227842267		2203	4299	6502	SO:0001583	missense	339500			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.316T>G	1.37:g.227842267T>G	ENSP00000344828:p.Phe106Val		Q8IVQ9	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.F161V	ENST00000343776.5	37	c.481		1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.971033	0.34754	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	T;T;T	0.28895	2.56;2.56;1.59	1.15	-0.0556	0.13809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33818	0.0876	L	0.42686	1.345	0.20074	N	0.999939	D	0.58970	0.984	P	0.55785	0.784	T	0.16928	-1.0386	9	0.72032	D	0.01	.	4.4496	0.11614	0.0:0.2179:0.0:0.7821	.	106	Q5SXM1	ZN678_HUMAN	V	106;161;161	ENSP00000344828:F106V;ENSP00000440403:F161V;ENSP00000394651:F161V	ENSP00000344828:F106V	F	+	1	0	ZNF678	225908890	0.837000	0.29446	0.001000	0.08648	0.000000	0.00434	2.872000	0.48467	-0.029000	0.13827	-0.322000	0.08575	TTT	ZNF678	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	T	NM_178549		227842267	+1	no_errors	ENST00000397097	ensembl	human	known	70_37	missense	SNP	0.355	G
ZNF699	374879	genome.wustl.edu	37	19	9406915	9406915	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9406915T>C	ENST00000591998.1	-	6	1393	c.1165A>G	c.(1165-1167)Aaa>Gaa	p.K389E	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Missense_Mutation_p.K389E			Q32M78	ZN699_HUMAN	zinc finger protein 699	389					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)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTATAGGGTTTCTCTCCAGTA	0.428																																																	0													78.0	84.0	82.0					19																	9406915		2199	4299	6498	SO:0001583	missense	374879			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1165A>G	19.37:g.9406915T>C	ENSP00000467723:p.Lys389Glu		Q8N9A1	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.K389E	ENST00000591998.1	37	c.1165	CCDS42495.1	19	.	.	.	.	.	.	.	.	.	.	t	17.93	3.508252	0.64410	.	.	ENSG00000196110	ENST00000308650	T	0.27104	1.69	3.28	3.28	0.37604	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.185798	0.26457	N	0.024277	T	0.37945	0.1022	M	0.76838	2.35	0.25972	N	0.982485	P	0.49559	0.925	P	0.50162	0.633	T	0.28299	-1.0048	10	0.72032	D	0.01	.	10.2416	0.43316	0.0:0.0:0.0:1.0	.	389	Q32M78	ZN699_HUMAN	E	389	ENSP00000311596:K389E	ENSP00000311596:K389E	K	-	1	0	ZNF699	9267915	0.968000	0.33430	0.987000	0.45799	0.962000	0.63368	1.935000	0.40173	1.748000	0.51833	0.449000	0.29647	AAA	ZNF699	-	pfscan_Znf_C2H2		0.428	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF699	HGNC	protein_coding	OTTHUMT00000449010.1	T	NM_198535		9406915	-1	no_errors	ENST00000308650	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF681	148213	genome.wustl.edu	37	19	23926771	23926771	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:23926771A>C	ENST00000402377.3	-	4	1722	c.1581T>G	c.(1579-1581)atT>atG	p.I527M	ZNF681_ENST00000395385.3_Missense_Mutation_p.I458M	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	527					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTCCAGTATGAATTTTCTTAT	0.373																																																	0													41.0	45.0	44.0					19																	23926771		2193	4299	6492	SO:0001583	missense	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1581T>G	19.37:g.23926771A>C	ENSP00000384000:p.Ile527Met		B3KVF7	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.I527M	ENST00000402377.3	37	c.1581	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	5.780	0.328256	0.10956	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.01025	5.43;5.43	1.51	0.392	0.16288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	L	0.46614	1.455	0.26108	N	0.980726	D	0.71674	0.998	D	0.67231	0.95	T	0.49551	-0.8928	9	0.66056	D	0.02	.	4.4401	0.11570	0.7729:0.0:0.2271:0.0	.	527	Q96N22	ZN681_HUMAN	M	527;458	ENSP00000384000:I527M;ENSP00000378783:I458M	ENSP00000378783:I458M	I	-	3	3	ZNF681	23718611	0.002000	0.14202	0.075000	0.20258	0.032000	0.12392	-0.254000	0.08781	0.663000	0.31027	0.260000	0.18958	ATT	ZNF681	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	A	NM_138286		23926771	-1	no_errors	ENST00000402377	ensembl	human	known	70_37	missense	SNP	0.999	C
ZNF702P	79986	genome.wustl.edu	37	19	53473006	53473006	+	RNA	SNP	A	A	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53473006A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							GTGATTAAAAACCTTGCCACA	0.343																																																	0													63.0	63.0	63.0					19																	53473006		876	1991	2867			79986																															19.37:g.53473006A>G				RNA	SNP	-	NULL	ENST00000600068.1	37	NULL		19																																																																																			ZNF702P	-	-		0.343	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ZNF702P	HGNC	processed_transcript	OTTHUMT00000463881.1	A			53473006	-1	no_errors	ENST00000270443	ensembl	human	known	70_37	rna	SNP	0.058	G
ZNF702P	79986	genome.wustl.edu	37	19	53473542	53473542	+	RNA	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53473542C>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TATATTTTTTCTCTCCTAAAT	0.348																																																	0													45.0	36.0	39.0					19																	53473542		692	1591	2283			79986																															19.37:g.53473542C>A				RNA	SNP	-	NULL	ENST00000600068.1	37	NULL		19																																																																																			ZNF702P	-	-		0.348	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ZNF702P	HGNC	processed_transcript	OTTHUMT00000463881.1	C			53473542	-1	no_errors	ENST00000270443	ensembl	human	known	70_37	rna	SNP	1.000	A
ZNF702P	79986	genome.wustl.edu	37	19	53473857	53473857	+	RNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53473857A>C	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							CATGCCTTTGATCATATCAGT	0.388																																																	0																																												79986																															19.37:g.53473857A>C				RNA	SNP	-	NULL	ENST00000600068.1	37	NULL		19																																																																																			ZNF702P	-	-		0.388	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ZNF702P	HGNC	processed_transcript	OTTHUMT00000463881.1	A			53473857	-1	no_errors	ENST00000270443	ensembl	human	known	70_37	rna	SNP	0.000	C
ALG1L9P	285407	genome.wustl.edu	37	11	71527750	71527750	+	RNA	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:71527750A>C	ENST00000508969.2	-	0	0				ZNF705E_ENST00000525199.1_RNA	NR_073387.1																						AGGATTGAATAAAGGCTTTCC	0.408																																																	0																																												100131539																															11.37:g.71527750A>C				RNA	SNP	-	NULL	ENST00000508969.2	37	NULL		11																																																																																			ZNF705E	-	-		0.408	CTD-2313N18.5-002	KNOWN	basic	processed_transcript	ZNF705E	HGNC	processed_transcript	OTTHUMT00000394764.1	A			71527750	-1	no_errors	ENST00000525199	ensembl	human	known	70_37	rna	SNP	0.595	C
ZNF705G	100131980	genome.wustl.edu	37	8	7217855	7217855	+	Splice_Site	SNP	C	C	A	rs542427871		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr8:7217855C>A	ENST00000400156.4	-	5	421		c.e5-1		ZNF705G_ENST00000400078.2_Splice_Site			A8MUZ8	Z705G_HUMAN	zinc finger protein 705G						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(9)	9						ATCTGGTACCCTGTTAGTGGA	0.378																																																	0													11.0	19.0	17.0					8																	7217855		655	1578	2233	SO:0001630	splice_region_variant	100131980				CCDS47773.1	8p23.1	2013-01-08			ENSG00000215372	ENSG00000215372		"""Zinc fingers, C2H2-type"", ""-"""	37134	protein-coding gene	gene with protein product							Standard	NM_001164457		Approved		uc022are.1	A8MUZ8	OTTHUMG00000165384	ENST00000400156.4:c.140-1G>T	8.37:g.7217855C>A				Splice_Site	SNP	-	e3-1	ENST00000400156.4	37	c.140-1		8	.	.	.	.	.	.	.	.	.	.	c	1.994	-0.431163	0.04669	.	.	ENSG00000215372	ENST00000400156;ENST00000400078	.	.	.	0.938	0.938	0.19500	.	.	.	.	.	.	.	.	.	.	.	0.23966	N	0.996324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3854	0.16215	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF705G	7205265	0.461000	0.25783	0.007000	0.13788	0.007000	0.05969	1.015000	0.29963	0.873000	0.35799	0.388000	0.25769	.	ZNF705G	-	-		0.378	ZNF705G-001	KNOWN	basic|appris_principal	protein_coding	ZNF705G	HGNC	protein_coding	OTTHUMT00000383776.1	C	XM_001720517	Intron	7217855	-1	no_errors	ENST00000400078	ensembl	human	known	70_37	splice_site	SNP	0.122	A
ZNF716	441234	genome.wustl.edu	37	7	57528744	57528744	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:57528744T>C	ENST00000420713.1	+	4	689	c.577T>C	c.(577-579)Tca>Cca	p.S193P		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	193					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)|kidney(1)|lung(20)|ovary(2)	24						CGATGGCAAATCATTTTGCAT	0.338																																																	0													77.0	66.0	69.0					7																	57528744		692	1591	2283	SO:0001583	missense	441234			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.577T>C	7.37:g.57528744T>C	ENSP00000394248:p.Ser193Pro			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.S193P	ENST00000420713.1	37	c.577	CCDS55112.1	7	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621545	0.28889	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.17054	2.3	0.195	0.195	0.15151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22666	0.0547	L	0.39326	1.205	0.09310	N	1	D	0.76494	0.999	P	0.59643	0.861	T	0.11275	-1.0594	9	0.66056	D	0.02	.	4.8229	0.13400	0.0:2.0E-4:0.0:0.9998	.	181	A6NP11	ZN716_HUMAN	P	193;181	ENSP00000394248:S193P	ENSP00000387687:S181P	S	+	1	0	ZNF716	57532686	0.000000	0.05858	0.235000	0.24058	0.234000	0.25298	-1.439000	0.02414	0.257000	0.21650	0.254000	0.18369	TCA	ZNF716	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	HGNC	protein_coding	OTTHUMT00000345309.1	T	NM_001159279		57528744	+1	no_errors	ENST00000420713	ensembl	human	known	70_37	missense	SNP	0.363	C
ZNF728	388523	genome.wustl.edu	37	19	23171152	23171152	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:23171152C>A	ENST00000594710.1	-	2	250	c.105G>T	c.(103-105)gaG>gaT	p.E35D		NM_001267716.1	NP_001254645.1	P0DKX0	ZN728_HUMAN	zinc finger protein 728	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										TTCTGTAGTTCTCTAACATCA	0.423																																																	0																																										SO:0001583	missense	388523			BC128130	CCDS59370.1	19p12	2014-02-14			ENSG00000269067	ENSG00000269067		"""Zinc fingers, C2H2-type"", ""-"""	32463	protein-coding gene	gene with protein product							Standard	NM_001267716		Approved		uc002nqz.2	P0DKX0	OTTHUMG00000183124	ENST00000594710.1:c.105G>T	19.37:g.23171152C>A	ENSP00000471593:p.Glu35Asp			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.E35D	ENST00000594710.1	37	c.105	CCDS59370.1	19																																																																																			ZNF728	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.423	ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF728	HGNC	protein_coding	OTTHUMT00000465176.1	C	NM_001267716		23171152	-1	no_errors	ENST00000594710	ensembl	human	novel	70_37	missense	SNP	0.893	A
ZNF732	654254	genome.wustl.edu	37	4	265510	265510	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr4:265510T>G	ENST00000419098.1	-	4	1146	c.1136A>C	c.(1135-1137)aAa>aCa	p.K379T		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	379					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(1)|lung(2)	3						ACTCTTATGTTTATTAAGGGT	0.383																																																	0													60.0	54.0	56.0					4																	265510		692	1591	2283	SO:0001583	missense	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1136A>C	4.37:g.265510T>G	ENSP00000415774:p.Lys379Thr			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.K379T	ENST00000419098.1	37	c.1136	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	T	0	-2.629979	0.00115	.	.	ENSG00000186777	ENST00000419098	T	0.07567	3.18	0.977	0.977	0.19733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	L	0.37850	1.14	0.09310	N	1	P	0.36183	0.542	B	0.38755	0.281	T	0.34875	-0.9811	9	0.10636	T	0.68	.	3.7266	0.08477	0.0:0.0:0.4015:0.5985	.	379	B4DXR9	ZN732_HUMAN	T	379	ENSP00000415774:K379T	ENSP00000415774:K379T	K	-	2	0	ZNF732	255510	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-3.446000	0.00468	0.338000	0.23692	0.329000	0.21502	AAA	ZNF732	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	T	NM_001137608		265510	-1	no_errors	ENST00000419098	ensembl	human	known	70_37	missense	SNP	0.013	G
ZNF749	388567	genome.wustl.edu	37	19	57955457	57955457	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:57955457T>C	ENST00000334181.4	+	3	1191	c.941T>C	c.(940-942)gTt>gCt	p.V314A	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	314					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(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GCTCATCTGGTTGGTCACCAG	0.438																																																	0													65.0	64.0	65.0					19																	57955457		2203	4300	6503	SO:0001583	missense	388567			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.941T>C	19.37:g.57955457T>C	ENSP00000333980:p.Val314Ala			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.V314A	ENST00000334181.4	37	c.941	CCDS33132.2	19	.	.	.	.	.	.	.	.	.	.	t	0.005	-2.172748	0.00315	.	.	ENSG00000186230	ENST00000334181	T	0.07021	3.23	1.59	-1.78	0.07957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02929	0.0087	N	0.10707	0.03	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.46456	-0.9190	9	0.09084	T	0.74	.	3.693	0.08353	0.0:0.2747:0.2788:0.4464	.	314	O43361	ZN749_HUMAN	A	314	ENSP00000333980:V314A	ENSP00000333980:V314A	V	+	2	0	ZNF749	62647269	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-4.139000	0.00287	-0.607000	0.05738	-0.756000	0.03474	GTT	ZNF749	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	T	NM_001023561		57955457	+1	no_errors	ENST00000334181	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF75A	7627	genome.wustl.edu	37	16	3358639	3358639	+	Intron	SNP	G	G	T	rs548858856		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr16:3358639G>T	ENST00000574298.1	+	1	158				TIGD7_ENST00000396862.1_5'Flank|LA16c-360H6.3_ENST00000574245.1_RNA|ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						CAAACTTCAAGAATTATGTCA	0.498																																																	0																																										SO:0001627	intron_variant	7627			X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.-316+2996G>T	16.37:g.3358639G>T			Q0VDI8|Q92669	RNA	SNP	-	NULL	ENST00000574298.1	37	NULL	CCDS10501.1	16																																																																																			ZNF75A	-	-		0.498	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF75A	HGNC	protein_coding	OTTHUMT00000251506.2	G	NM_153028		3358639	+1	no_errors	ENST00000498240	ensembl	human	known	70_37	rna	SNP	0.881	T
ZNF77	58492	genome.wustl.edu	37	19	2934814	2934814	+	Splice_Site	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:2934814C>T	ENST00000314531.4	-	4	404		c.e4-1			NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77						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(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTGACTTCTGTTCAAAAT	0.383																																																	0													76.0	74.0	75.0					19																	2934814		2203	4299	6502	SO:0001630	splice_region_variant	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.312-1G>A	19.37:g.2934814C>T			Q86XJ3|Q9NPP0	Splice_Site	SNP	-	e4-1	ENST00000314531.4	37	c.312-1	CCDS12099.1	19	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750192	0.49257	.	.	ENSG00000175691	ENST00000314531	.	.	.	2.77	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2924	0.49258	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF77	2885814	0.736000	0.28164	0.672000	0.29872	0.414000	0.31173	2.617000	0.46385	1.570000	0.49709	0.491000	0.48974	.	ZNF77	-	-		0.383	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	C	NM_021217	Intron	2934814	-1	no_errors	ENST00000314531	ensembl	human	known	70_37	splice_site	SNP	0.856	T
ZNF763	284390	genome.wustl.edu	37	19	12089292	12089292	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:12089292T>C	ENST00000358987.3	+	4	680	c.553T>C	c.(553-555)Tca>Cca	p.S185P	ZNF763_ENST00000343949.5_Missense_Mutation_p.S188P|ZNF763_ENST00000538752.1_Missense_Mutation_p.S205P|ZNF763_ENST00000545530.1_Missense_Mutation_p.S63P|ZNF763_ENST00000590798.1_Missense_Mutation_p.S205P			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TATTTCCCATTCAGGCATTCG	0.413																																																	0													116.0	119.0	118.0					19																	12089292		2202	4300	6502	SO:0001583	missense	284390			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.553T>C	19.37:g.12089292T>C	ENSP00000402017:p.Ser185Pro		B3KRU3|B4DRE7	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S205P	ENST00000358987.3	37	c.613		19	.	.	.	.	.	.	.	.	.	.	t	6.430	0.447548	0.12223	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	1.4	-0.116	0.13555	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26195	0.0639	L	0.42008	1.315	0.09310	N	1	B;B;D	0.58268	0.002;0.006;0.982	B;B;P	0.56960	0.006;0.006;0.81	T	0.14476	-1.0471	9	0.56958	D	0.05	.	4.5971	0.12334	0.3329:0.0:0.0:0.6671	.	205;185;188	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	P	205;188;63;185	ENSP00000438117:S205P;ENSP00000369774:S188P;ENSP00000446166:S63P;ENSP00000402017:S185P	ENSP00000369774:S188P	S	+	1	0	ZNF763	11950292	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.864000	0.04254	-0.717000	0.04955	0.164000	0.16699	TCA	ZNF763	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF763	HGNC	protein_coding	OTTHUMT00000344158.1	T	NM_001012753		12089292	+1	no_errors	ENST00000538752	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF780B	163131	genome.wustl.edu	37	19	40540448	40540448	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:40540448C>A	ENST00000434248.1	-	5	2383	c.2318G>T	c.(2317-2319)aGt>aTt	p.S773I	ZNF780B_ENST00000221355.6_Missense_Mutation_p.S625I	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	773					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTATGAATACTCTGAGGTTG	0.418																																																	0													85.0	90.0	88.0					19																	40540448		2202	4299	6501	SO:0001583	missense	163131			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.2318G>T	19.37:g.40540448C>A	ENSP00000391641:p.Ser773Ile		B9EH00	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.S773I	ENST00000434248.1	37	c.2318	CCDS46077.1	19	.	.	.	.	.	.	.	.	.	.	C	9.284	1.048803	0.19827	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.59906	0.23;0.23	2.46	-1.48	0.08745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33731	0.0873	N	0.19112	0.55	0.09310	N	1	B	0.30686	0.29	B	0.22880	0.042	T	0.18085	-1.0348	9	0.59425	D	0.04	.	3.9804	0.09492	0.0:0.3497:0.3817:0.2687	.	773	Q9Y6R6	Z780B_HUMAN	I	773;625	ENSP00000391641:S773I;ENSP00000221355:S625I	ENSP00000221355:S625I	S	-	2	0	ZNF780B	45232288	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.792000	0.00766	-0.140000	0.11394	-0.391000	0.06502	AGT	ZNF780B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	C	NM_001005851		40540448	-1	no_errors	ENST00000434248	ensembl	human	known	70_37	missense	SNP	0.002	A
ZNF773	374928	genome.wustl.edu	37	19	58018347	58018347	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:58018347G>T	ENST00000282292.4	+	4	1024	c.884G>T	c.(883-885)aGa>aTa	p.R295I	ZNF773_ENST00000598770.1_Missense_Mutation_p.R294I|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	295					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)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CAGCATCACAGAATCCACACT	0.423																																																	0													144.0	138.0	140.0					19																	58018347		2203	4300	6503	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.884G>T	19.37:g.58018347G>T	ENSP00000282292:p.Arg295Ile		Q96DL8	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.R295I	ENST00000282292.4	37	c.884	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055080	0.36277	.	.	ENSG00000152439	ENST00000282292	T	0.02446	4.29	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06280	0.0162	L	0.58810	1.83	0.22541	N	0.999003	D;P	0.61080	0.989;0.951	P;B	0.52267	0.694;0.313	T	0.32268	-0.9913	9	0.62326	D	0.03	.	6.628	0.22841	0.0:0.0:0.7193:0.2807	.	294;295	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	I	295	ENSP00000282292:R295I	ENSP00000282292:R295I	R	+	2	0	ZNF773	62710159	0.000000	0.05858	0.588000	0.28705	0.934000	0.57294	-0.340000	0.07821	0.987000	0.38709	0.305000	0.20034	AGA	ZNF773	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	G	NM_198542		58018347	+1	no_errors	ENST00000282292	ensembl	human	known	70_37	missense	SNP	0.140	T
ZNF800	168850	genome.wustl.edu	37	7	127014976	127014976	+	Silent	SNP	A	A	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:127014976A>C	ENST00000393313.1	-	5	1005	c.414T>G	c.(412-414)acT>acG	p.T138T	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Silent_p.T138T|ZNF800_ENST00000265827.3_Silent_p.T138T			Q2TB10	ZN800_HUMAN	zinc finger protein 800	138					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(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CATTTTGATTAGTTTCTATGG	0.353																																																	0													106.0	104.0	105.0					7																	127014976		2203	4300	6503	SO:0001819	synonymous_variant	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.414T>G	7.37:g.127014976A>C			Q9HBN0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T138	ENST00000393313.1	37	c.414	CCDS5795.1	7																																																																																			ZNF800	-	NULL		0.353	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	A	NM_176814		127014976	-1	no_errors	ENST00000265827	ensembl	human	known	70_37	silent	SNP	0.711	C
ZNF804A	91752	genome.wustl.edu	37	2	185802173	185802173	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:185802173T>G	ENST00000302277.6	+	4	2644	c.2050T>G	c.(2050-2052)Tat>Gat	p.Y684D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	684							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATACAACACTTATGATACTAT	0.308																																																	0													80.0	80.0	80.0					2																	185802173		2202	4294	6496	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2050T>G	2.37:g.185802173T>G	ENSP00000303252:p.Tyr684Asp		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.Y684D	ENST00000302277.6	37	c.2050	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	T	0.048	-1.260923	0.01445	.	.	ENSG00000170396	ENST00000302277	T	0.04862	3.54	4.84	-0.532	0.11890	.	0.863730	0.09864	N	0.745875	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48980	-0.8986	10	0.12430	T	0.62	-1.005	5.0567	0.14537	0.548:0.0:0.3121:0.1399	.	684	Q7Z570	Z804A_HUMAN	D	684	ENSP00000303252:Y684D	ENSP00000303252:Y684D	Y	+	1	0	ZNF804A	185510418	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.323000	0.19593	-0.010000	0.14271	-0.339000	0.08088	TAT	ZNF804A	-	NULL		0.308	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	T	NM_194250		185802173	+1	no_errors	ENST00000302277	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF804B	219578	genome.wustl.edu	37	7	88962847	88962847	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:88962847C>T	ENST00000333190.4	+	4	1160	c.551C>T	c.(550-552)aCc>aTc	p.T184I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	184							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAGCGGTCCACCATGCCAAAT	0.418										HNSCC(36;0.09)																																							0													115.0	111.0	112.0					7																	88962847		2203	4300	6503	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.551C>T	7.37:g.88962847C>T	ENSP00000329638:p.Thr184Ile		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.T184I	ENST00000333190.4	37	c.551	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	6.987	0.552273	0.13374	.	.	ENSG00000182348	ENST00000333190	T	0.05081	3.5	5.3	3.37	0.38596	.	1.117290	0.06646	N	0.761966	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.42068	-0.9473	10	0.05436	T	0.98	0.4451	4.4951	0.11833	0.0:0.6006:0.0:0.3994	.	184	A4D1E1	Z804B_HUMAN	I	184	ENSP00000329638:T184I	ENSP00000329638:T184I	T	+	2	0	ZNF804B	88800783	0.000000	0.05858	0.004000	0.12327	0.856000	0.48823	0.154000	0.16343	1.490000	0.48466	0.650000	0.86243	ACC	ZNF804B	-	NULL		0.418	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	C	NM_181646		88962847	+1	no_errors	ENST00000333190	ensembl	human	known	70_37	missense	SNP	0.007	T
ZNF812	729648	genome.wustl.edu	37	19	9800869	9800869	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:9800869C>A	ENST00000457674.2	-	5	1828	c.1310G>T	c.(1309-1311)aGa>aTa	p.R437I	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						AGTGTGAATTCTTTCATGTCT	0.393																																																	0																																										SO:0001583	missense	729648				CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.1310G>T	19.37:g.9800869C>A	ENSP00000395629:p.Arg437Ile			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.R437I	ENST00000457674.2	37	c.1310	CCDS54215.1	19	.	.	.	.	.	.	.	.	.	.	c	15.16	2.749591	0.49257	.	.	ENSG00000224689	ENST00000457674	T	0.10005	2.92	1.42	1.42	0.22433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27663	0.0680	M	0.76727	2.345	0.45172	D	0.998188	D	0.69078	0.997	D	0.81914	0.995	T	0.03524	-1.1028	9	0.56958	D	0.05	.	8.745	0.34580	0.0:1.0:0.0:0.0	.	437	P0C7V5	ZN812_HUMAN	I	437	ENSP00000395629:R437I	ENSP00000395629:R437I	R	-	2	0	ZNF812	9661869	0.000000	0.05858	0.048000	0.18961	0.177000	0.22998	-0.791000	0.04599	1.070000	0.40811	0.195000	0.17529	AGA	ZNF812	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF812	HGNC	protein_coding	OTTHUMT00000396726.1	C			9800869	-1	no_errors	ENST00000457674	ensembl	human	known	70_37	missense	SNP	0.955	A
ZNF816	125893	genome.wustl.edu	37	19	53453422	53453422	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53453422G>T	ENST00000357666.4	-	5	1906	c.1606C>A	c.(1606-1608)Cca>Aca	p.P536T	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.P536T|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	536					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CATTTGTATGGTTTTTCCCCA	0.398																																																	0													94.0	96.0	96.0					19																	53453422		2203	4300	6503	SO:0001583	missense	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1606C>A	19.37:g.53453422G>T	ENSP00000350295:p.Pro536Thr		A8K7H5|Q3KR39|Q659B3	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.P536T	ENST00000357666.4	37	c.1606	CCDS33096.1	19	.	.	.	.	.	.	.	.	.	.	-	11.85	1.760615	0.31137	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.16897	2.31;2.31	1.79	1.79	0.24919	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39172	0.1068	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32981	-0.9886	9	0.66056	D	0.02	.	10.5237	0.44934	0.0:0.0:1.0:0.0	.	536	Q0VGE8	ZN816_HUMAN	T	536	ENSP00000350295:P536T;ENSP00000403266:P536T	ENSP00000350295:P536T	P	-	1	0	ZNF816	58145234	0.002000	0.14202	0.450000	0.26969	0.112000	0.19704	0.345000	0.19979	0.965000	0.38133	0.205000	0.17691	CCA	ZNF816	-	pfscan_Znf_C2H2		0.398	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	G	NM_001031665		53453422	-1	no_errors	ENST00000357666	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF816	125893	genome.wustl.edu	37	19	53453865	53453865	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:53453865T>C	ENST00000357666.4	-	5	1463	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H388R|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	388					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GTGAAGTATATGATGGCATTG	0.393																																																	0													147.0	147.0	147.0					19																	53453865		2203	4300	6503	SO:0001583	missense	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1163A>G	19.37:g.53453865T>C	ENSP00000350295:p.His388Arg		A8K7H5|Q3KR39|Q659B3	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.H388R	ENST00000357666.4	37	c.1163	CCDS33096.1	19	.	.	.	.	.	.	.	.	.	.	-	1.375	-0.585004	0.03827	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.16897	2.31;2.31	1.85	-0.557	0.11800	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05273	0.0140	N	0.02120	-0.675	0.21740	N	0.999569	B	0.18741	0.03	B	0.24006	0.05	T	0.38329	-0.9666	9	0.30854	T	0.27	.	2.4056	0.04412	0.2181:0.3009:0.0:0.4811	.	388	Q0VGE8	ZN816_HUMAN	R	388	ENSP00000350295:H388R;ENSP00000403266:H388R	ENSP00000350295:H388R	H	-	2	0	ZNF816	58145677	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-1.558000	0.02164	-0.415000	0.07484	0.260000	0.18958	CAT	ZNF816	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	T	NM_001031665		53453865	-1	no_errors	ENST00000357666	ensembl	human	known	70_37	missense	SNP	0.274	C
ZNF814	730051	genome.wustl.edu	37	19	58384949	58384949	+	Silent	SNP	A	A	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:58384949A>T	ENST00000435989.2	-	3	2043	c.1809T>A	c.(1807-1809)ccT>ccA	p.P603P	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	603					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CACACTCATAAGGCCTCTCTC	0.473																																																	0													91.0	75.0	80.0					19																	58384949		692	1591	2283	SO:0001819	synonymous_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1809T>A	19.37:g.58384949A>T			A6NF35	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.P603	ENST00000435989.2	37	c.1809	CCDS46212.1	19																																																																																			ZNF814	-	pfscan_Znf_C2H2		0.473	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	A	XM_001725708		58384949	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	silent	SNP	0.312	T
ZNF862	643641	genome.wustl.edu	37	7	149557897	149557897	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr7:149557897G>A	ENST00000223210.4	+	7	1893	c.1648G>A	c.(1648-1650)Gac>Aac	p.D550N	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GATCTCCAGCGACCTCATGGC	0.512																																																	0													66.0	69.0	68.0					7																	149557897		2085	4216	6301	SO:0001583	missense	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1648G>A	7.37:g.149557897G>A	ENSP00000223210:p.Asp550Asn		A0AUL8	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.D550N	ENST00000223210.4	37	c.1648	CCDS47741.1	7	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667248	0.67814	.	.	ENSG00000106479	ENST00000223210	T	0.01076	5.37	4.98	4.98	0.66077	.	0.217321	0.32147	N	0.006519	T	0.02533	0.0077	M	0.76328	2.33	0.29412	N	0.861153	D	0.52996	0.957	B	0.43155	0.41	T	0.28933	-1.0028	10	0.42905	T	0.14	-31.0478	13.7753	0.63050	0.0:0.0:1.0:0.0	.	550	O60290	ZN862_HUMAN	N	550	ENSP00000223210:D550N	ENSP00000223210:D550N	D	+	1	0	ZNF862	149188830	1.000000	0.71417	0.981000	0.43875	0.973000	0.67179	3.908000	0.56355	2.320000	0.78422	0.655000	0.94253	GAC	ZNF862	-	NULL		0.512	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	HGNC	protein_coding	OTTHUMT00000350165.1	G	NM_001099220		149557897	+1	no_errors	ENST00000223210	ensembl	human	known	70_37	missense	SNP	0.993	A
ZNF880	400713	genome.wustl.edu	37	19	52887236	52887236	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:52887236G>A	ENST00000422689.2	+	4	418	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	135					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TAAACATGTCGAAAAACCTAT	0.308																																																	0													72.0	58.0	63.0					19																	52887236		692	1591	2283	SO:0001583	missense	400713			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.403G>A	19.37:g.52887236G>A	ENSP00000406318:p.Glu135Lys		B4DNA6	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.E135K	ENST00000422689.2	37	c.403	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048179	0.19827	.	.	ENSG00000221923	ENST00000422689	T	0.06371	3.31	1.46	-0.964	0.10326	.	.	.	.	.	T	0.04407	0.0121	L	0.39514	1.22	0.09310	N	1	P	0.52692	0.955	B	0.39805	0.31	T	0.35895	-0.9770	8	.	.	.	.	2.4596	0.04538	0.2354:0.3311:0.4335:0.0	.	135	Q6PDB4	ZN880_HUMAN	K	135	ENSP00000406318:E135K	.	E	+	1	0	ZNF880	57579048	0.150000	0.22732	0.001000	0.08648	0.001000	0.01503	0.605000	0.24179	-0.027000	0.13873	-0.233000	0.12211	GAA	ZNF880	-	NULL		0.308	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	G	NM_001145434		52887236	+1	no_errors	ENST00000422689	ensembl	human	known	70_37	missense	SNP	0.009	A
ZNF90	7643	genome.wustl.edu	37	19	20228640	20228640	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:20228640G>T	ENST00000418063.2	+	4	389	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	93					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GAGCCTAAAAGATTCCTTCCA	0.338																																																	0													101.0	92.0	95.0					19																	20228640		692	1591	2283	SO:0001583	missense	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.277G>T	19.37:g.20228640G>T	ENSP00000410466:p.Asp93Tyr		B9EH87	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.D93Y	ENST00000418063.2	37	c.277	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	G	9.949	1.219748	0.22373	.	.	ENSG00000213988	ENST00000418063	T	0.05025	3.51	0.81	0.81	0.18732	.	.	.	.	.	T	0.23094	0.0558	M	0.88906	2.99	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.05146	-1.0903	9	0.59425	D	0.04	.	4.7747	0.13173	0.0:0.0:1.0:0.0	.	93	Q03938	ZNF90_HUMAN	Y	93	ENSP00000410466:D93Y	ENSP00000410466:D93Y	D	+	1	0	ZNF90	20089640	0.022000	0.18835	0.027000	0.17364	0.066000	0.16364	0.159000	0.16442	0.181000	0.19994	0.184000	0.17185	GAT	ZNF90	-	NULL		0.338	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	G	NM_007138		20228640	+1	no_errors	ENST00000418063	ensembl	human	known	70_37	missense	SNP	0.020	T
ZNF98	148198	genome.wustl.edu	37	19	22574445	22574445	+	Missense_Mutation	SNP	G	G	T	rs577683093		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:22574445G>T	ENST00000357774.5	-	4	1713	c.1592C>A	c.(1591-1593)tCt>tAt	p.S531Y		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTTAAGAATAGAGGAGTTGTT	0.373																																																	0													50.0	43.0	45.0					19																	22574445		2118	4248	6366	SO:0001583	missense	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1592C>A	19.37:g.22574445G>T	ENSP00000350418:p.Ser531Tyr			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.S531Y	ENST00000357774.5	37	c.1592	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	4.543	0.100797	0.08731	.	.	ENSG00000197360	ENST00000357774	T	0.08193	3.12	0.81	-0.324	0.12706	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21103	0.0508	M	0.67700	2.07	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.07309	-1.0779	9	0.87932	D	0	.	6.1648	0.20384	0.2016:0.0:0.7984:0.0	.	531	A6NK75	ZNF98_HUMAN	Y	531	ENSP00000350418:S531Y	ENSP00000350418:S531Y	S	-	2	0	ZNF98	22366285	0.026000	0.19158	0.000000	0.03702	0.047000	0.14425	1.688000	0.37690	-0.066000	0.12998	0.289000	0.19496	TCT	ZNF98	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	G	NM_001098626		22574445	-1	no_errors	ENST00000357774	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF99	7652	genome.wustl.edu	37	19	22942310	22942310	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:22942310T>C	ENST00000596209.1	-	4	491	c.401A>G	c.(400-402)aAc>aGc	p.N134S	ZNF99_ENST00000397104.3_Missense_Mutation_p.N155S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	134					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)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCAACATTGGTTAAGTTTATT	0.303																																																	0													97.0	92.0	94.0					19																	22942310		1862	4095	5957	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.401A>G	19.37:g.22942310T>C	ENSP00000472969:p.Asn134Ser		M0R335	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.N155S	ENST00000596209.1	37	c.464	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	N	0.022	-1.414933	0.01145	.	.	ENSG00000213973	ENST00000397104	T	0.35605	1.3	1.18	-0.731	0.11151	.	.	.	.	.	T	0.25082	0.0609	L	0.58925	1.835	0.09310	N	1	B	0.25904	0.137	B	0.26202	0.067	T	0.34354	-0.9832	9	0.09843	T	0.71	.	2.0189	0.03505	0.2932:0.0:0.2943:0.4125	.	155	A8MXY4	ZNF99_HUMAN	S	155	ENSP00000380293:N155S	ENSP00000380293:N155S	N	-	2	0	ZNF99	22734150	.	.	0.003000	0.11579	0.013000	0.08279	.	.	-0.483000	0.06772	0.316000	0.21350	AAC	ZNF99	-	NULL		0.303	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	T	XM_065124		22942310	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF880	400713	genome.wustl.edu	37	19	52888452	52888452	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr19:52888452G>T	ENST00000422689.2	+	4	1634	c.1619G>T	c.(1618-1620)aGa>aTa	p.R540I		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	540					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AAACATGAGAGAATTCATACT	0.408																																																	0													58.0	54.0	56.0					19																	52888452		692	1591	2283	SO:0001583	missense	400713			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1619G>T	19.37:g.52888452G>T	ENSP00000406318:p.Arg540Ile		B4DNA6	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.R540I	ENST00000422689.2	37	c.1619	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162266	0.38217	.	.	ENSG00000221923	ENST00000422689	T	0.24908	1.83	1.79	-3.57	0.04612	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30039	0.0752	M	0.66297	2.02	0.27403	N	0.954786	D	0.56035	0.974	P	0.52823	0.71	T	0.22312	-1.0220	8	.	.	.	.	2.7981	0.05407	0.2805:0.0:0.3609:0.3586	.	540	Q6PDB4	ZN880_HUMAN	I	540	ENSP00000406318:R540I	.	R	+	2	0	ZNF880	57580264	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.468000	0.06656	-0.421000	0.07416	0.442000	0.29010	AGA	ZNF880	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	G	NM_001145434		52888452	+1	no_errors	ENST00000422689	ensembl	human	known	70_37	missense	SNP	0.709	T
ZSWIM2	151112	genome.wustl.edu	37	2	187693353	187693353	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr2:187693353T>G	ENST00000295131.2	-	9	1299	c.1260A>C	c.(1258-1260)aaA>aaC	p.K420N		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	420					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)			GATCTGGTTCTTTCTGCTTTG	0.323																																																	0													76.0	78.0	77.0					2																	187693353		2203	4300	6503	SO:0001583	missense	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.1260A>C	2.37:g.187693353T>G	ENSP00000295131:p.Lys420Asn		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.K420N	ENST00000295131.2	37	c.1260	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292837	0.23564	.	.	ENSG00000163012	ENST00000295131	T	0.22945	1.93	5.3	1.34	0.21922	.	0.494039	0.18897	N	0.128155	T	0.10766	0.0263	N	0.08118	0	0.21355	N	0.999716	B	0.17667	0.023	B	0.14023	0.01	T	0.19418	-1.0306	10	0.40728	T	0.16	-6.4395	4.9854	0.14187	0.0:0.1688:0.1556:0.6756	.	420	Q8NEG5	ZSWM2_HUMAN	N	420	ENSP00000295131:K420N	ENSP00000295131:K420N	K	-	3	2	ZSWIM2	187401598	0.935000	0.31712	0.970000	0.41538	0.408000	0.30992	0.926000	0.28804	0.419000	0.25927	0.482000	0.46254	AAA	ZSWIM2	-	NULL		0.323	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	T	NM_182521		187693353	-1	no_errors	ENST00000295131	ensembl	human	known	70_37	missense	SNP	0.896	G
ZW10	9183	genome.wustl.edu	37	11	113604472	113604472	+	Missense_Mutation	SNP	G	G	A	rs564542696		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr11:113604472G>A	ENST00000200135.3	-	16	2428	c.2284C>T	c.(2284-2286)Cgt>Tgt	p.R762C		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	762					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AACAAGGCACGAATTAAAGCT	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17822	0.0		0.0	False		,,,				2504	0.0																0													102.0	99.0	100.0					11																	113604472		2201	4296	6497	SO:0001583	missense	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.2284C>T	11.37:g.113604472G>A	ENSP00000200135:p.Arg762Cys		A1A528	Missense_Mutation	SNP	pfam_RZZ-complex_Zw10	p.R762C	ENST00000200135.3	37	c.2284	CCDS8363.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.118194	0.94385	.	.	ENSG00000086827	ENST00000200135	T	0.53423	0.62	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77859	-0.2431	10	0.87932	D	0	-10.092	19.5534	0.95331	0.0:0.0:1.0:0.0	.	762	O43264	ZW10_HUMAN	C	762	ENSP00000200135:R762C	ENSP00000200135:R762C	R	-	1	0	ZW10	113109682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.610000	0.88304	0.591000	0.81541	CGT	ZW10	-	NULL		0.413	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	G	NM_004724		113604472	-1	no_errors	ENST00000200135	ensembl	human	known	70_37	missense	SNP	1.000	A
ZYG11B	79699	genome.wustl.edu	37	1	53287173	53287173	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:53287173G>T	ENST00000294353.6	+	14	2252	c.2107G>T	c.(2107-2109)Gat>Tat	p.D703Y	ZYG11B_ENST00000443756.2_Missense_Mutation_p.D633Y	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	703										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CAACATCAAAGATCATGAACA	0.418																																																	0													100.0	86.0	91.0					1																	53287173		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.2107G>T	1.37:g.53287173G>T	ENSP00000294353:p.Asp703Tyr		Q8N2X3|Q9H8L8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D703Y	ENST00000294353.6	37	c.2107	CCDS30717.1	1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464046	0.43736	.	.	ENSG00000162378	ENST00000443756;ENST00000294353	T;T	0.50813	0.73;0.73	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.285663	0.39909	N	0.001232	T	0.56366	0.1980	L	0.40543	1.245	0.80722	D	1	D;B	0.64830	0.994;0.308	P;B	0.58820	0.846;0.179	T	0.58446	-0.7635	10	0.66056	D	0.02	.	15.4607	0.75353	0.0:0.1389:0.8611:0.0	.	633;703	B4DK95;Q9C0D3	.;ZY11B_HUMAN	Y	633;703	ENSP00000400522:D633Y;ENSP00000294353:D703Y	ENSP00000294353:D703Y	D	+	1	0	ZYG11B	53059761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.428000	0.59894	2.496000	0.84212	0.591000	0.81541	GAT	ZYG11B	-	superfamily_ARM-type_fold		0.418	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11B	HGNC	protein_coding	OTTHUMT00000024749.1	G	NM_024646		53287173	+1	no_errors	ENST00000294353	ensembl	human	known	70_37	missense	SNP	1.000	T
ZYG11A	440590	genome.wustl.edu	37	1	53352630	53352630	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr1:53352630C>A	ENST00000371528.1	+	13	2157	c.2009C>A	c.(2008-2010)tCt>tAt	p.S670Y	ZYG11A_ENST00000371532.1_Missense_Mutation_p.S328Y	NM_001004339.2	NP_001004339.2	Q6WRX3	ZY11A_HUMAN	zyg-11 family member A, cell cycle regulator	670										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	10						TGTTTTAGATCTTTCAAGACA	0.353																																																	0													200.0	155.0	169.0					1																	53352630		692	1591	2283	SO:0001583	missense	440590				CCDS44148.1	1p32.3	2013-01-17	2012-12-10		ENSG00000203995	ENSG00000203995		"""ZYG11 cell cycle regulator family"""	32058	protein-coding gene	gene with protein product			"""zyg-11 homolog A (C. elegans)"""				Standard	NM_001004339		Approved	ZYG11	uc001cuk.2	Q6WRX3	OTTHUMG00000008923	ENST00000371528.1:c.2009C>A	1.37:g.53352630C>A	ENSP00000360583:p.Ser670Tyr		A6NCK5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S670Y	ENST00000371528.1	37	c.2009	CCDS44148.1	1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968889	0.53614	.	.	ENSG00000203995	ENST00000371532;ENST00000371528	T;T	0.49139	0.79;0.79	4.98	4.98	0.66077	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70996	0.3288	M	0.79123	2.44	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.74609	-0.3608	10	0.87932	D	0	-12.9967	18.8132	0.92065	0.0:1.0:0.0:0.0	.	670	Q6WRX3	ZY11A_HUMAN	Y	328;670	ENSP00000360587:S328Y;ENSP00000360583:S670Y	ENSP00000360583:S670Y	S	+	2	0	ZYG11A	53125218	1.000000	0.71417	0.960000	0.40013	0.042000	0.13812	6.219000	0.72231	2.736000	0.93811	0.655000	0.94253	TCT	ZYG11A	-	superfamily_ARM-type_fold		0.353	ZYG11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11A	HGNC	protein_coding	OTTHUMT00000024856.3	C	NM_001004339		53352630	+1	no_errors	ENST00000371528	ensembl	human	known	70_37	missense	SNP	0.998	A
ZZEF1	23140	genome.wustl.edu	37	17	3969795	3969795	+	Nonsense_Mutation	SNP	C	C	A	rs539113171		TCGA-FU-A3HZ-01A-11D-A20U-09	TCGA-FU-A3HZ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed	2dd3e992-bac4-48ec-92b4-07797eb87746	g.chr17:3969795C>A	ENST00000381638.2	-	28	4319	c.4195G>T	c.(4195-4197)Gaa>Taa	p.E1399*		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1399							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCTTCTGCTTCATTCCCCAGG	0.502																																																	0													214.0	197.0	203.0					17																	3969795		2203	4300	6503	SO:0001587	stop_gained	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4195G>T	17.37:g.3969795C>A	ENSP00000371051:p.Glu1399*		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.E1399*	ENST00000381638.2	37	c.4195	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	43	10.070782	0.99330	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.38	5.38	0.77491	.	0.334038	0.31697	N	0.007214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-12.9636	19.1189	0.93353	0.0:1.0:0.0:0.0	.	.	.	.	X	1399	.	ENSP00000371051:E1399X	E	-	1	0	ZZEF1	3916544	0.973000	0.33851	0.659000	0.29680	0.244000	0.25665	3.775000	0.55349	2.511000	0.84671	0.561000	0.74099	GAA	ZZEF1	-	NULL		0.502	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	C	NM_015113		3969795	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	nonsense	SNP	0.562	A
